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Gene | BRIP1 |
Variant | P991A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BRIP1 P991A lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). P991A confers a loss of function to the Brip1 protein as indicated by failure to interact with Brca1 and loss of Brip1 phosphorylation in culture (PMID: 14576433). |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 inact mut BRIP1 P991A |
Transcript | NM_032043.3 |
gDNA | chr17:g.61684075G>C |
cDNA | c.2971C>G |
Protein | p.P991A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |