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Gene | BRIP1 |
Variant | C283R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BRIP1 C283R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C283R confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, defective unwinding of D-loop DNA substrates and G-quadruplex (G4) DNA secondary structures, failure to suppress accumulation of replisome-associated G4 structures and rescue mitomycin C-induced cell death of Brip1 knockout cells in culture (PMID: 32542039). |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 inact mut BRIP1 C283R |
Transcript | NM_032043.3 |
gDNA | chr17:g.61808538A>G |
cDNA | c.847T>C |
Protein | p.C283R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047436894.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525332.4 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525341.4 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525332 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436903.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436893.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525340.3 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436904.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525336.2 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525340 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525333.3 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525335.4 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436900.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525339.4 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525335 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525332.3 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436899.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525336 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436897.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525339.3 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525336.3 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
NM_032043 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525337 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525339 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436902.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525340.4 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436895.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436896.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525334.3 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525341.3 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525333.4 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525337.2 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525333 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_047436901.1 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525334 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525334.2 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
XM_011525341 | chr17:g.61808538A>G | c.847T>C | p.C283R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRIP1 C283R | Advanced Solid Tumor | sensitive | CX-5461 | Preclinical - Cell culture | Actionable | In a preclinical study, CX-5461 inhibited survival of transformed cells expressing BRIP1 C283R in culture (PMID: 32542039). | 32542039 |