A0A087WPE1 · A0A087WPE1_MOUSE
- ProteinBreast cancer 1, early onset
- GeneBrca1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids177 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs222901276 | 3 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000077.7:g.101415678C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415678C>A Locations: - p.Gly3Cys (Ensembl:ENSMUST00000191198) - c.7G>T (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs3389175275 | 4 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.101415675G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415675G>A Locations: - p.Leu4Phe (Ensembl:ENSMUST00000191198) - c.10C>T (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs3389198797 | 7 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000077.7:g.101415665G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415665G>A Locations: - p.Pro7Leu (Ensembl:ENSMUST00000191198) - c.20C>T (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs262237250 | 10 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000077.7:g.101415656T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415656T>C Locations: - p.His10Arg (Ensembl:ENSMUST00000191198) - c.29A>G (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs3389141007 | 17 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000077.7:g.101415635T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415635T>C Locations: - p.Glu17Gly (Ensembl:ENSMUST00000191198) - c.50A>G (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs3389207346 | 30 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.101415595A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415595A>T Locations: - p.Tyr30Ter (Ensembl:ENSMUST00000191198) - c.90T>A (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs3389203498 | 41 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000077.7:g.101415563T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415563T>A Locations: - p.Gln41Leu (Ensembl:ENSMUST00000191198) - c.122A>T (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs3389212701 | 48 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.101415541T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415541T>G Locations: - p.Lys48Asn (Ensembl:ENSMUST00000191198) - c.144A>C (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs252945637 | 65 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000077.7:g.101415491A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415491A>G Locations: - p.Leu65Pro (Ensembl:ENSMUST00000191198) - c.194T>C (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs259669471 | 93 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000077.7:g.101415407G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415407G>A Locations: - p.Ala93Val (Ensembl:ENSMUST00000191198) - c.278C>T (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs252392391 | 122 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000077.7:g.101415186C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415186C>T Locations: - p.Glu122Lys (Ensembl:ENSMUST00000191198) - c.364G>A (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs3413106935 | 141 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.101415128A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415128A>T Locations: - p.Ile141Asn (Ensembl:ENSMUST00000191198) - c.422T>A (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs3389167008 | 147 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000077.7:g.101415111G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415111G>A Locations: - p.His147Tyr (Ensembl:ENSMUST00000191198) - c.439C>T (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs28288697 | 149 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.101415105C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415105C>T Locations: - p.Val149Ile (Ensembl:ENSMUST00000191198) - c.445G>A (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs28288698 | 162 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.101415066C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415066C>T Locations: - p.Gly162Ser (Ensembl:ENSMUST00000191198) - c.484G>A (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: | |||||||
rs3389205931 | 165 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.101415056C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.101415056C>A Locations: - p.Ser165Ile (Ensembl:ENSMUST00000191198) - c.494G>T (Ensembl:ENSMUST00000191198) Source type: large scale study Cross-references: |