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Gene | BRIP1 |
Variant | R798* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRIP1 R798* results in a premature truncation of the Brip1 protein at amino acid 798 of 1249 (UniProt.org). R798* has not been characterized, however, due to the effects of other truncation mutations downstream of R798 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 inact mut BRIP1 R798* |
Transcript | NM_032043.3 |
gDNA | chr17:g.61716051G>A |
cDNA | c.2392C>T |
Protein | p.R798* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |