BRIP1 R707C
Gene Variant Detail

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Gene BRIP1
Variant R707C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRIP1 R707C does not lie within any known functional domains of the Brip1 protein (UniProt.org). R707C confers a partial resistance to interstrand crosslinking agents in BRIP1-deficient cells in culture (PMID: 33619228), demonstrates inefficient DNA binding, reduced ATP hydrolysis, partially reduced helicase activity, and impaired dimerization, but retains the ability to unwind substrate at a reduced efficiency compared to wild-type protein in an in vitro assay (PMID: 29788478), and therefore, its effect on Brip1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 R707C

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Transcript NM_032043.3
gDNA chr17:g.61744570G>A
cDNA c.2119C>T
Protein p.R707C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_032043.3 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
XM_011525338.2 chr17:g.61693463G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61744570G>A c.2119C>T p.R707C RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries