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Gene | BARD1 |
Variant | I286V |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BARD1 I286V does not lie within any known functional domains of the Bard1 protein (UniProt.org). I286V demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 39387837), and therefore, is predicted to have no effect on Bard1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 I286V |
Transcript | NM_000465.4 |
gDNA | chr2:g.214781018T>C |
cDNA | c.856A>G |
Protein | p.I286V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |