H7C4Z7 · H7C4Z7_HUMAN
- ProteinWW domain containing transcription regulator 1
- GeneWWTR1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs562155104 | 2 | H>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149541057T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149541057T>A Locations: - p.His2Leu (Ensembl:ENST00000471586) - c.5A>T (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1430908857 | 2 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149541058G>T Codon: CAT/AAT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149541058G>T Locations: - p.His2Asn (Ensembl:ENST00000471586) - c.4C>A (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs750346406 | 3 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149541055A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149541055A>C Locations: - p.Ser3Ala (Ensembl:ENST00000471586) - c.7T>G (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs576709176 | 3 | S>Y | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149541054G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149541054G>T Locations: - p.Ser3Tyr (Ensembl:ENST00000471586) - c.8C>A (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1736076114 | 5 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149541047T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149541047T>G Locations: - p.Glu5Asp (Ensembl:ENST00000471586) - c.15A>C (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1168243977 | 5 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149541049C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149541049C>T Locations: - p.Glu5Lys (Ensembl:ENST00000471586) - c.13G>A (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1736075999 | 8 | W>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149541040A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149541040A>G Locations: - p.Trp8Arg (Ensembl:ENST00000471586) - c.22T>C (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs763877279 | 12 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149541027G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149541027G>A Locations: - p.Pro12Leu (Ensembl:ENST00000471586) - c.35C>T (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1560051207 | 14 | M>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149541021A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149541021A>T Locations: - p.Met14Lys (Ensembl:ENST00000471586) - c.41T>A (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1736075047 | 16 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149541016C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149541016C>G Locations: - p.Gly16Arg (Ensembl:ENST00000471586) - c.46G>C (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1735405514 | 17 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527966C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527966C>A Locations: - p.Lys17Asn (Ensembl:ENST00000471586) - c.51G>T (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1735405070 | 19 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527961G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527961G>A Locations: - p.Pro19Leu (Ensembl:ENST00000471586) - c.56C>T (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1735405285 | 19 | P>S | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527962G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527962G>A Locations: - p.Pro19Ser (Ensembl:ENST00000471586) - c.55C>T (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1357186435 | 22 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527951G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527951G>T Locations: - p.Asp22Glu (Ensembl:ENST00000471586) - c.66C>A (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1735404060 | 22 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527952T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527952T>C Locations: - p.Asp22Gly (Ensembl:ENST00000471586) - c.65A>G (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs767508554 | 22 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527953C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527953C>T Locations: - p.Asp22Asn (Ensembl:ENST00000471586) - c.64G>A (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1455119444 | 23 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527950T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527950T>A Locations: - p.Ser23Cys (Ensembl:ENST00000471586) - c.67A>T (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs373330023 | 23 | S>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527949C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527949C>G Locations: - p.Ser23Thr (Ensembl:ENST00000471586) - c.68G>C (Ensembl:ENST00000471586) Source type: large scale study | |||||||
rs773670232 | 24 | S>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527947A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527947A>C Locations: - p.Ser24Ala (Ensembl:ENST00000471586) - c.70T>G (Ensembl:ENST00000471586) Source type: large scale study | |||||||
rs773670232 | 24 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527947A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527947A>T Locations: - p.Ser24Thr (Ensembl:ENST00000471586) - c.70T>A (Ensembl:ENST00000471586) Source type: large scale study | |||||||
rs138550281 | 25 | P>L | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527943G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527943G>A Locations: - p.Pro25Leu (Ensembl:ENST00000471586) - c.74C>T (Ensembl:ENST00000471586) Source type: large scale study | |||||||
COSV62291656 rs1392783723 | 26 | W>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.149527939C>T Codon: TGG/TGA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527939C>T Locations: - p.Trp26Ter (Ensembl:ENST00000471586) - c.78G>A (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1006990612 | 26 | W>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527941A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527941A>C Locations: - p.Trp26Gly (Ensembl:ENST00000471586) - c.76T>G (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
COSV62293288 rs1387317716 rs1387317716,COSV62293288 | 26 | W>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: Yes Accession: NC_000003.12:g.149527940C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527940C>A Locations: - p.W26L (NCI-TCGA:ENST00000471586) - p.Trp26Leu (Ensembl:ENST00000471586) - c.77G>T (Ensembl:ENST00000471586) Source type: large scale study | |||||||
rs1006990612 | 26 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527941A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527941A>G Locations: - p.Trp26Arg (Ensembl:ENST00000471586) - c.76T>C (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs147102705 | 29 | R>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527931C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527931C>G Locations: - p.Arg29Thr (Ensembl:ENST00000471586) - c.86G>C (Ensembl:ENST00000471586) Source type: large scale study | |||||||
rs1234172355 | 33 | Q>* | TOPMed | ||||
Consequence: missense Somatic: No Accession: NC_000003.12:g.149527920G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527920G>A Locations: - p.Gln33Ter (Ensembl:ENST00000471586) - c.97C>T (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs747447921 | 33 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527918C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527918C>G Locations: - p.Gln33His (Ensembl:ENST00000471586) - c.99G>C (Ensembl:ENST00000471586) Source type: large scale study | |||||||
COSV62292660 rs776129502 | 34 | F>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: Yes Accession: NC_000003.12:g.149527915G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527915G>C Locations: - p.Phe34Leu (Ensembl:ENST00000471586) - c.102C>G (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs779744983 | 34 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527917A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527917A>C Locations: - p.Phe34Val (Ensembl:ENST00000471586) - c.100T>G (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs149464192 | 35 | R>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527912C>G, NC_000003.12:g.149527912C>A Codon: GCT/CCT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527912C>G, NC_000003.12:g.149527912C>A Locations: - p.Arg35Ser (Ensembl:ENST00000471586) - c.105G>C (Ensembl:ENST00000471586) - c.105G>T (Ensembl:ENST00000471586) Source type: large scale study | |||||||
rs1379807304 | 40 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527899G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527899G>A Locations: - p.His40Tyr (Ensembl:ENST00000471586) - c.118C>T (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1735400198 | 41 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527896G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527896G>C Locations: - p.Pro41Ala (Ensembl:ENST00000471586) - c.121C>G (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
COSV62293773 rs1735400198 | 41 | P>T | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: Yes Accession: NC_000003.12:g.149527896G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527896G>T Locations: - p.Pro41Thr (Ensembl:ENST00000471586) - c.121C>A (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
COSV104674025 rs746387674 | 42 | R>* | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.149527893G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527893G>A Locations: - p.Arg42Ter (Ensembl:ENST00000471586) - c.124C>T (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs757376560 | 42 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527892C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527892C>A Locations: - p.Arg42Leu (Ensembl:ENST00000471586) - c.125G>T (Ensembl:ENST00000471586) Source type: large scale study | |||||||
rs757376560 | 42 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000003.12:g.149527892C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527892C>T Locations: - p.Arg42Gln (Ensembl:ENST00000471586) - c.125G>A (Ensembl:ENST00000471586) Source type: large scale study | |||||||
rs28763914 | 43 | *>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000003.12:g.149527888T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527888T>A Locations: - p.Ter43CysextTer4 (Ensembl:ENST00000471586) - c.129A>T (Ensembl:ENST00000471586) Source type: large scale study Cross-references: | |||||||
rs1453914269 | 43 | *>R | TOPMed | ||||
Consequence: missense Somatic: No Accession: NC_000003.12:g.149527890A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.149527890A>G Locations: - p.Ter43ArgextTer4 (Ensembl:ENST00000471586) - c.127T>C (Ensembl:ENST00000471586) Source type: large scale study Cross-references: |