E9PB93 · E9PB93_HUMAN
- ProteinRNA polymerase II subunit D
- GenePOLR2D
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids104 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV104554133 | 2 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127853061G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127853061G>A Locations: - p.Leu2Phe (cosmic curated:ENST00000409698) - c.4C>T (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1287501421 | 6 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.127853049G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127853049G>A Locations: - p.Arg6Ter (Ensembl:ENST00000409698) - c.16C>T (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1382680796 | 8 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.127853042T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127853042T>A Locations: - p.Gln8Leu (Ensembl:ENST00000409698) - c.23A>T (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs201446894 | 11 | E>G | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.127853033T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127853033T>C Locations: - p.Glu11Gly (Ensembl:ENST00000409698) - c.32A>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV99761086 | 11 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127853034C>G Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127853034C>G Locations: - p.E11Q (NCI-TCGA:ENST00000409698) - p.Glu11Gln (cosmic curated:ENST00000409698) - c.31G>C (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55759044 | 12 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127853031T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127853031T>A Locations: - p.Ser12Cys (cosmic curated:ENST00000409698) - c.34A>T (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55759324 | 16 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127853019C>A Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127853019C>A Locations: - p.E16* (NCI-TCGA:ENST00000409698) - p.Glu16Ter (cosmic curated:ENST00000409698) - c.46G>T (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs199858444 | 18 | E>G | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.127853012T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127853012T>C Locations: - p.Glu18Gly (Ensembl:ENST00000409698) - c.53A>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs2104725134 | 18 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.127853013C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127853013C>T Locations: - p.Glu18Lys (Ensembl:ENST00000409698) - c.52G>A (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1690274938 | 20 | S>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.127853006G>C Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127853006G>C Locations: - p.Ser20Ter (Ensembl:ENST00000409698) - c.59C>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758372 | 20 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127853006G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127853006G>A Locations: - p.Ser20Leu (cosmic curated:ENST00000409698) - c.59C>T (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1240409947 | 22 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.127853001C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127853001C>T Locations: - p.V22I (NCI-TCGA:ENST00000409698) - p.Val22Ile (Ensembl:ENST00000409698) - c.64G>A (Ensembl:ENST00000409698) Source type: large scale study | |||||||
rs1690274818 | 24 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000002.12:g.127852994A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852994A>G Locations: - p.Met24Thr (Ensembl:ENST00000409698) - c.71T>C (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs367586307 | 24 | M>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000002.12:g.127852995T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852995T>C Locations: - p.Met24Val (Ensembl:ENST00000409698) - c.70A>G (Ensembl:ENST00000409698) Source type: large scale study | |||||||
rs758672688 | 28 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.127852981G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852981G>C Locations: - p.Asn28Lys (Ensembl:ENST00000409698) - c.84C>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs142734461 | 29 | Y>C | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.127852979T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852979T>C Locations: - p.Tyr29Cys (Ensembl:ENST00000409698) - c.86A>G (Ensembl:ENST00000409698) Source type: large scale study | |||||||
rs1236090878 | 29 | Y>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.127852980A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852980A>T Locations: - p.Tyr29Asn (Ensembl:ENST00000409698) - c.85T>A (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1690274478 | 32 | R>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.127852971G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852971G>A Locations: - p.Arg32Cys (Ensembl:ENST00000409698) - c.94C>T (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV99760913 | 32 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127852970C>T Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852970C>T Locations: - p.R32H (NCI-TCGA:ENST00000409698) - p.Arg32His (cosmic curated:ENST00000409698) - c.95G>A (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1207172744 | 33 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.127852968A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852968A>G Locations: - p.Phe33Leu (Ensembl:ENST00000409698) - c.97T>C (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs750986470 | 35 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000007963 (gnomAD) Accession: NC_000002.12:g.127852962G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852962G>A Locations: - p.R35C (NCI-TCGA:ENST00000409698) - p.Arg35Cys (Ensembl:ENST00000409698) - c.103C>T (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758804 rs779254562 | 35 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.466) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000002.12:g.127852961C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852961C>T Locations: - p.Arg35His (Ensembl:ENST00000409698) - c.104G>A (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758326 | 38 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127852952T>C Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852952T>C Locations: - p.N38S (NCI-TCGA:ENST00000409698) - p.Asn38Ser (cosmic curated:ENST00000409698) - c.113A>G (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758190 | 39 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127852950T>A Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852950T>A Locations: - p.R39* (NCI-TCGA:ENST00000409698) - p.Arg39Ter (cosmic curated:ENST00000409698) - c.115A>T (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1425292093 | 39 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.127852950T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852950T>C Locations: - p.Arg39Gly (Ensembl:ENST00000409698) - c.115A>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1558982164 | 40 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000002.12:g.127852945C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852945C>G Locations: - p.Glu40Asp (Ensembl:ENST00000409698) - c.120G>C (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs374268513 | 41 | T>I | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.758) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.127852943G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852943G>A Locations: - p.Thr41Ile (Ensembl:ENST00000409698) - c.122C>T (Ensembl:ENST00000409698) Source type: large scale study | |||||||
rs892956400 | 43 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.127852937G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852937G>A Locations: - p.Ala43Val (Ensembl:ENST00000409698) - c.128C>T (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758592 rs1446487220 | 44 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000002.12:g.127852934C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127852934C>T Locations: - p.S44N (NCI-TCGA:ENST00000409698) - p.Ser44Asn (Ensembl:ENST00000409698) - c.131G>A (Ensembl:ENST00000409698) Source type: large scale study | |||||||
COSV55758651 | 46 | R>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127852929G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127852929G>A Locations: - p.Arg46Cys (cosmic curated:ENST00000409698) - c.136C>T (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55759279 | 46 | R>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127852928C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127852928C>T Locations: - p.Arg46His (cosmic curated:ENST00000409698) - c.137G>A (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758205 | 51 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127850675G>A Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850675G>A Locations: - p.Q51* (NCI-TCGA:ENST00000409698) - p.Gln51Ter (cosmic curated:ENST00000409698) - c.151C>T (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs756165905 | 51 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.127850674T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850674T>C Locations: - p.Gln51Arg (Ensembl:ENST00000409698) - c.152A>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV108010155 | 53 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127850667C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127850667C>G Locations: - p.Lys53Asn (cosmic curated:ENST00000409698) - c.159G>C (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55759309 | 53 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127850668T>C Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850668T>C Locations: - p.K53R (NCI-TCGA:ENST00000409698) - p.Lys53Arg (cosmic curated:ENST00000409698) - c.158A>G (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs752956653 | 55 | H>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.127850662T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850662T>G Locations: - p.His55Pro (Ensembl:ENST00000409698) - c.164A>C (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs752956653 | 55 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.127850662T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850662T>C Locations: - p.His55Arg (Ensembl:ENST00000409698) - c.164A>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV104554146 | 55 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127850663G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127850663G>A Locations: - p.His55Tyr (cosmic curated:ENST00000409698) - c.163C>T (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1049860707 | 58 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.127850652C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850652C>A Locations: - p.Glu58Asp (Ensembl:ENST00000409698) - c.174G>T (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1690237490 | 61 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.127850645A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850645A>G Locations: - p.Cys61Arg (Ensembl:ENST00000409698) - c.181T>C (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs148033992 | 61 | C>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.127850644C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850644C>G Locations: - p.Cys61Ser (Ensembl:ENST00000409698) - c.182G>C (Ensembl:ENST00000409698) Source type: large scale study | |||||||
rs148033992 | 61 | C>Y | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.595) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.127850644C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850644C>T Locations: - p.Cys61Tyr (Ensembl:ENST00000409698) - c.182G>A (Ensembl:ENST00000409698) Source type: large scale study | |||||||
COSV55758505 | 64 | N>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127850635T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127850635T>A Locations: - p.Asn64Ile (cosmic curated:ENST00000409698) - c.191A>T (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758505 COSV55758505,COSV99761030 COSV99761030 rs1173877336 | 64 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000002.12:g.127850635T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850635T>C Locations: - p.N64S (NCI-TCGA:ENST00000409698) - p.Asn64Ser (Ensembl:ENST00000409698) - c.191A>G (Ensembl:ENST00000409698) Source type: large scale study | |||||||
rs1173877336 | 64 | N>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.127850635T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850635T>G Locations: - p.Asn64Thr (Ensembl:ENST00000409698) - c.191A>C (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs374104615 | 65 | L>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.127850633G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850633G>A Locations: - p.Leu65Phe (Ensembl:ENST00000409698) - c.193C>T (Ensembl:ENST00000409698) Source type: large scale study | |||||||
COSV55759546 | 68 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127850624C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127850624C>G Locations: - p.Glu68Gln (cosmic curated:ENST00000409698) - c.202G>C (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758840 | 71 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127850615C>T Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850615C>T Locations: - p.E71K (NCI-TCGA:ENST00000409698) - p.Glu71Lys (cosmic curated:ENST00000409698) - c.211G>A (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs145791963 | 73 | S>A | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.127850609A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850609A>C Locations: - p.Ser73Ala (Ensembl:ENST00000409698) - c.217T>G (Ensembl:ENST00000409698) Source type: large scale study | |||||||
rs773265255 | 75 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.127850602G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850602G>A Locations: - p.Ala75Val (Ensembl:ENST00000409698) - c.224C>T (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1203350813 | 77 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.127850597T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850597T>C Locations: - p.Ile77Val (Ensembl:ENST00000409698) - c.229A>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758662 | 78 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127850593G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127850593G>T Locations: - p.Pro78Gln (cosmic curated:ENST00000409698) - c.233C>A (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758453 rs141939117 | 79 | S>G | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000002.12:g.127850591T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127850591T>C Locations: - p.Ser79Gly (Ensembl:ENST00000409698) - c.235A>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV107246908 | 79 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127850590C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127850590C>A Locations: - p.Ser79Ile (cosmic curated:ENST00000409698) - c.236G>T (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1558980731 | 81 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000002.12:g.127848179C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848179C>G Locations: - p.Glu81Asp (Ensembl:ENST00000409698) - c.243G>C (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1246900545 | 83 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.127848175G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848175G>C Locations: - p.Arg83Gly (Ensembl:ENST00000409698) - c.247C>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758622 rs763805041 | 83 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.546) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000002.12:g.127848174C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848174C>T Locations: - p.Arg83Gln (Ensembl:ENST00000409698) - c.248G>A (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758237 rs1246900545 | 83 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.127848175G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848175G>A Locations: - p.R83W (NCI-TCGA:ENST00000409698) - p.Arg83Trp (Ensembl:ENST00000409698) - c.247C>T (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758772 | 86 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127848166C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127848166C>G Locations: - p.Asp86His (cosmic curated:ENST00000409698) - c.256G>C (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1380147095 | 87 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.34) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.127848163C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848163C>T Locations: - p.Glu87Lys (Ensembl:ENST00000409698) - c.259G>A (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758180 | 90 | Q>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127848153T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127848153T>C Locations: - p.Gln90Arg (cosmic curated:ENST00000409698) - c.269A>G (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1690185440 | 92 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000002.12:g.127848148T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848148T>C Locations: - p.Ile92Val (Ensembl:ENST00000409698) - c.274A>G (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55758293 | 93 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127848145G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127848145G>T Locations: - p.Leu93Ile (cosmic curated:ENST00000409698) - c.277C>A (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs531774328 | 93 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.127848145G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848145G>C Locations: - p.Leu93Val (Ensembl:ENST00000409698) - c.277C>G (Ensembl:ENST00000409698) Source type: large scale study | |||||||
rs1422076855 | 94 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000002.12:g.127848140A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848140A>T Locations: - p.Asp94Glu (Ensembl:ENST00000409698) - c.282T>A (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1478827154 | 94 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000002.12:g.127848142C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848142C>T Locations: - p.Asp94Asn (Ensembl:ENST00000409698) - c.280G>A (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1690185140 | 96 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.127848135A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848135A>G Locations: - p.Ile96Thr (Ensembl:ENST00000409698) - c.287T>C (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs1383859436 | 99 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.38) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.127848127T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848127T>G Locations: - p.Lys99Gln (Ensembl:ENST00000409698) - c.295A>C (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs775193880 | 100 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.127848124G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848124G>A Locations: - p.Arg100Cys (Ensembl:ENST00000409698) - c.298C>T (Ensembl:ENST00000409698) Source type: large scale study | |||||||
COSV99760901 | 100 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127848123C>T Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848123C>T Locations: - p.R100H (NCI-TCGA:ENST00000409698) - p.Arg100His (cosmic curated:ENST00000409698) - c.299G>A (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
rs771326394 | 100 | R>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.127848123C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848123C>A Locations: - p.Arg100Leu (Ensembl:ENST00000409698) - c.299G>T (Ensembl:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55759260 | 101 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127848120C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.127848120C>T Locations: - p.Ser101Asn (cosmic curated:ENST00000409698) - c.302G>A (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: | |||||||
COSV55759561 | 104 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.127848111T>C Consequence type: missense Cytogenetic band: 2q14.3 Genomic location: NC_000002.12:g.127848111T>C Locations: - p.Y104C (NCI-TCGA:ENST00000409698) - p.Tyr104Cys (cosmic curated:ENST00000409698) - c.311A>G (cosmic curated:ENST00000409698) Source type: large scale study Cross-references: |