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Gene | BRIP1 |
Variant | W335L |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRIP1 W335L lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). W335L does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), 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 W335L |
Transcript | NM_032043.3 |
gDNA | chr17:g.61801389C>A |
cDNA | c.1004G>T |
Protein | p.W335L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |