BRIP1 R762H
Gene Variant Detail

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Gene BRIP1
Variant R762H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRIP1 R762H does not lie within any known functional domains of the Brip1 protein (UniProt.org). R762H has been identified in sequencing studies (PMID: 30836094, PMID: 29338072, PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 R762H

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Transcript NM_032043.3
gDNA chr17:g.61743107C>T
cDNA c.2285G>A
Protein p.R762H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525335.4 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
XM_011525335 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
NM_032043 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61743107C>T c.2285G>A p.R762H RefSeq GRCh38/hg38

Filtering

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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries