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Gene | BRIP1 |
Variant | R777C |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRIP1 R777C does not lie within any known functional domains of the Brip1 protein (UniProt.org). R777C demonstrates reduced protein stability and fails to rescue mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), 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 R777C |
Transcript | NM_032043.3 |
gDNA | chr17:g.61743063G>A |
cDNA | c.2329C>T |
Protein | p.R777C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |