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Gene | BRIP1 |
Variant | K1146E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRIP1 K1146E does not lie within any known functional domains of the Brip1 protein (UniProt.org). K1146E confers a partial resistance to interstrand crosslinking agents compared to wild-type protein in BRIP1-deficient cells in culture (PMID: 33619228), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 K1146E |
Transcript | NM_032043.3 |
gDNA | chr17:g.61683610T>C |
cDNA | c.3436A>G |
Protein | p.K1146E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011525335.4 | chr17:g.61683610T>C | c.3436A>G | p.K1146E | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61683610T>C | c.3436A>G | p.K1146E | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61683610T>C | c.3436A>G | p.K1146E | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61683610T>C | c.3436A>G | p.K1146E | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61683610T>C | c.3436A>G | p.K1146E | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61683610T>C | c.3436A>G | p.K1146E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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