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Gene | BRIP1 |
Variant | L340F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRIP1 L340F lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L340F retains the ability to suppress replisome-associated G-quadruplex (G4) structures and to rescue mitomycin C-induced cell death of Brip1 knockout cells in culture, but results in reduced iron incorporation in an in vitro assay and decreased DNA helicase activity in culture (PMID: 32542039), and therefore, its effect on Brip1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 L340F |
Transcript | NM_032043.3 |
gDNA | chr17:g.61801375G>A |
cDNA | c.1018C>T |
Protein | p.L340F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011525335.4 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436902.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525336.3 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525336.2 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436901.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436899.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525341.3 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436904.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_017025203.1 | chr17:g.61685867_61685869delCTAinsTTT | c.1018_1020delCTAinsTTT | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525337.2 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_017025202.1 | chr17:g.61685867_61685869delCTAinsTTT | c.1018_1020delCTAinsTTT | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525332.4 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525333.4 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
NM_032043 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525333 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525336 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525334 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_017025203 | chr17:g.61685867_61685869delTAGinsAAA | c.1018_1020delCTAinsTTT | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525332.3 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525335 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525334.3 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436900.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436894.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436896.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_017025202 | chr17:g.61685867_61685869delTAGinsAAA | c.1018_1020delCTAinsTTT | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525340 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436895.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525333.3 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525340.4 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525339 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525337 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525332 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436897.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525341.4 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525340.3 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525341 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525334.2 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525339.3 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436893.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_011525339.4 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
XM_047436903.1 | chr17:g.61801375G>A | c.1018C>T | p.L340F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRIP1 L340F | Advanced Solid Tumor | no benefit | CX-5461 | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing BRIP1 L340F were not sensitive to CX-5461 induced growth inhibition in culture (PMID: 32542039). | 32542039 |