BRIP1 S697F
Gene Variant Detail

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Gene BRIP1
Variant S697F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 S697F does not lie within any known functional domains of the Brip1 protein (UniProt.org). S697F does not confer resistance to interstrand crosslinking agents in a BRIP1 deficient cell line in culture (PMID: 33619228), 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 S697F

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Transcript NM_032043.3
gDNA chr17:g.61776408G>A
cDNA c.2090C>T
Protein p.S697F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017025200.1 chr17:g.61693432G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61776408G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61776408G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61776408G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61776408G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61776408G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
XM_017025201.1 chr17:g.61693432G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61776408G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61776408G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61776408G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61776408G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61776408G>A c.2090C>T p.S697F RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61776408G>A c.2090C>T p.S697F 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 S697F Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, Platinol (cisplatin) treatment inhibited viability of a cell line expressing BRIP1 S697F in culture (PMID: 33619228). 33619228