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Gene | BRIP1 |
Variant | E795* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRIP1 E795* results in a premature truncation of the Brip1 protein at amino acid 795 of 1249 (UniProt.org). E795* demonstrates resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), however, due to the effects of other truncation mutations downstream of E795 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 inact mut BRIP1 E795* |
Transcript | NM_032043.3 |
gDNA | chr17:g.61716060C>A |
cDNA | c.2383G>T |
Protein | p.E795* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011525335.4 | chr17:g.61716060C>A | c.2383G>T | p.E795* | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61716060C>A | c.2383G>T | p.E795* | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61716060C>A | c.2383G>T | p.E795* | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61716060C>A | c.2383G>T | p.E795* | RefSeq | GRCh38/hg38 |
XM_047436900.1 | chr17:g.61716060C>A | c.2383G>T | p.E795* | RefSeq | GRCh38/hg38 |
XM_047436901.1 | chr17:g.61716060C>A | c.2383G>T | p.E795* | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61716060C>A | c.2383G>T | p.E795* | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61716060C>A | c.2383G>T | p.E795* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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