H3BRV9 · H3BRV9_HUMAN
- ProteinNuclear transport factor 2
- GeneNUTF2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids107 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV54645902 rs751898570 | 5 | P>T | cosmic curated ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000016.10:g.67865143C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865143C>A Locations: - p.Pro5Thr (Ensembl:ENST00000567105) - c.13C>A (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs1454818577 | 6 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000016.10:g.67865146A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865146A>C Locations: - p.Ile6Leu (Ensembl:ENST00000567105) - c.16A>C (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs1454818577 | 6 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000016.10:g.67865146A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865146A>G Locations: - p.Ile6Val (Ensembl:ENST00000567105) - c.16A>G (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs1480615586 | 15 | I>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67865173A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865173A>C Locations: - p.Ile15Leu (Ensembl:ENST00000567105) - c.43A>C (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs944287415 | 15 | I>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67865174T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865174T>A Locations: - p.Ile15Asn (Ensembl:ENST00000567105) - c.44T>A (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs2057962079 | 22 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.346) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.67865194T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865194T>C Locations: - p.Phe22Leu (Ensembl:ENST00000567105) - c.64T>C (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs781546269 | 25 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000016.10:g.67865203G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865203G>A Locations: - p.Asp25Asn (Ensembl:ENST00000567105) - c.73G>A (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs112015413 | 28 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.67865213A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865213A>T Locations: - p.Gln28Leu (Ensembl:ENST00000567105) - c.83A>T (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs112015413 | 28 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.67865213A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865213A>C Locations: - p.Gln28Pro (Ensembl:ENST00000567105) - c.83A>C (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs146730920 | 31 | A>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000016.10:g.67865221G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865221G>T Locations: - p.Ala31Ser (Ensembl:ENST00000567105) - c.91G>T (Ensembl:ENST00000567105) Source type: large scale study | |||||||
COSV54647638 COSV99534612 rs146730920 | 31 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.47) Somatic: Yes Population frequencies: - MAF: 0.000003982 (gnomAD) Accession: NC_000016.10:g.67865221G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865221G>A Locations: - p.A31T (NCI-TCGA:ENST00000567105) - p.Ala31Thr (Ensembl:ENST00000567105) - c.91G>A (Ensembl:ENST00000567105) Source type: large scale study | |||||||
rs996872875 | 32 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.67865225T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67865225T>C Locations: - p.Ile32Thr (Ensembl:ENST00000567105) - c.95T>C (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
COSV54647366 rs769916507 | 36 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: tolerated (0.52) Somatic: Yes Accession: NC_000016.10:g.67868346G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868346G>A Locations: - p.Ala36Thr (Ensembl:ENST00000567105) - c.106G>A (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
COSV54647426 rs780123868 | 36 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.21) Somatic: Yes Population frequencies: - MAF: 0.000007954 (gnomAD) Accession: NC_000016.10:g.67868347C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868347C>T Locations: - p.A36V (NCI-TCGA:ENST00000567105) - p.Ala36Val (Ensembl:ENST00000567105) - c.107C>T (Ensembl:ENST00000567105) Source type: large scale study | |||||||
rs1174798184 | 44 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000016.10:g.67868370C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868370C>G Locations: - p.Gln44Glu (Ensembl:ENST00000567105) - c.130C>G (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs755127384 | 46 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.67868378C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868378C>A Locations: - p.Phe46Leu (Ensembl:ENST00000567105) - c.138C>A (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs1018063125 | 49 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67868387A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868387A>T Locations: - p.Lys49Asn (Ensembl:ENST00000567105) - c.147A>T (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs2057988972 | 55 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67868404A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868404A>C Locations: - p.Lys55Thr (Ensembl:ENST00000567105) - c.164A>C (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs199682288 | 65 | Q>R | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.67868523A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868523A>G Locations: - p.Gln65Arg (Ensembl:ENST00000567105) - c.194A>G (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs528007247 | 67 | S>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.67868530C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868530C>A Locations: - p.Ser67Arg (Ensembl:ENST00000567105) - c.201C>A (Ensembl:ENST00000567105) Source type: large scale study | |||||||
rs769624135 | 69 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67868535C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868535C>T Locations: - p.Thr69Ile (Ensembl:ENST00000567105) - c.206C>T (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
COSV54645601 rs1198759694 | 70 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.15) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000016.10:g.67868537G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868537G>A Locations: - p.A70T (NCI-TCGA:ENST00000567105) - p.Ala70Thr (Ensembl:ENST00000567105) - c.208G>A (Ensembl:ENST00000567105) Source type: large scale study | |||||||
COSV54645249 rs1245639763 | 70 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.07) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000016.10:g.67868538C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868538C>T Locations: - p.A70V (NCI-TCGA:ENST00000567105) - p.Ala70Val (Ensembl:ENST00000567105) - c.209C>T (Ensembl:ENST00000567105) Source type: large scale study | |||||||
rs2057990385 | 80 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67868567T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868567T>C Locations: - p.Cys80Arg (Ensembl:ENST00000567105) - c.238T>C (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs767988860 | 82 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.67868573A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868573A>G Locations: - p.Ile82Val (Ensembl:ENST00000567105) - c.244A>G (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs1464755715 | 84 | M>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.67868579A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868579A>T Locations: - p.Met84Leu (Ensembl:ENST00000567105) - c.250A>T (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs1378555664 | 86 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000016.10:g.67868585G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67868585G>C Locations: - p.Val86Leu (Ensembl:ENST00000567105) - c.256G>C (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
COSV107265426 rs1244461222 | 91 | A>V | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: tolerated (0.41) Somatic: Yes Accession: NC_000016.10:g.67870801C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67870801C>T Locations: - p.Ala91Val (Ensembl:ENST00000567105) - c.272C>T (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs1356522365 | 95 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.67870813C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67870813C>T Locations: - p.Pro95Leu (Ensembl:ENST00000567105) - c.284C>T (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs773849589 | 96 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000016.10:g.67870815A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67870815A>G Locations: - p.Ile96Val (Ensembl:ENST00000567105) - c.286A>G (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs2058006208 | 102 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000016.10:g.67870834T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67870834T>C Locations: - p.Met102Thr (Ensembl:ENST00000567105) - c.305T>C (Ensembl:ENST00000567105) Source type: large scale study Cross-references: | |||||||
rs2151302093 | 105 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67870842T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67870842T>G Locations: - p.Leu105Val (Ensembl:ENST00000567105) - c.313T>G (Ensembl:ENST00000567105) Source type: large scale study Cross-references: |