BRIP1 R777C
Gene Variant Detail

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Gene BRIP1
Variant R777C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 R777C does not lie within any known functional domains of the Brip1 protein (UniProt.org). R777C demonstrates reduced protein stability and fails to rescue mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), and therefore, is predicted to lead to a loss of Brip1 protein function.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 R777C

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Transcript NM_032043.3
gDNA chr17:g.61743063G>A
cDNA c.2329C>T
Protein p.R777C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525335.4 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
XM_011525335 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
NM_032043 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61743063G>A c.2329C>T p.R777C RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References