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Gene | BARD1 |
Variant | T490I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BARD1 T490I lies within ANK repeat 2 of the Bard1 protein (UniProt.org). T490I 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 T490I |
Transcript | NM_000465.4 |
gDNA | chr2:g.214767581G>A |
cDNA | c.1469C>T |
Protein | p.T490I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |