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Gene | BRIP1 |
Variant | G51* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRIP1 G51* results in a premature truncation of the Brip1 protein at amino acid 51 of 1249 (UniProt.org). G51* 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 G51* |
Transcript | NM_032043.3 |
gDNA | chr17:g.61859850C>A |
cDNA | c.151G>T |
Protein | p.G51* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |