BRIP1 R762C
Gene Variant Detail

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Gene BRIP1
Variant R762C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRIP1 R762C does not lie within any known functional domains of the Brip1 protein (UniProt.org). R762C has been identified in sequencing studies (PMID: 29338072, PMID: 28235761, PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Sep 2025).
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 R762C

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Transcript NM_032043.3
gDNA chr17:g.61743108G>A
cDNA c.2284C>T
Protein p.R762C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_032043 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
XM_011525335 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61743108G>A c.2284C>T p.R762C RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRIP1 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline BRIP1 mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...