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Gene | BARD1 |
Variant | R641Q |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BARD1 R641Q lies within BRCT domain 1 of the Bard1 protein (UniProt.org). R641Q results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture in one study (PMID: 30925164), and demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture in another study (PMID: 39387837), and therefore, its effect on Bard1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 R641Q |
Transcript | NM_000465.4 |
gDNA | chr2:g.214730490C>T |
cDNA | c.1922G>A |
Protein | p.R641Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |