Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | BARD1 |
Variant | L585I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BARD1 L585I lies within BRCT domain 1 of the Bard1 protein (UniProt.org). L585I 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 L585I |
Transcript | NM_000465.4 |
gDNA | chr2:g.214745779G>T |
cDNA | c.1753C>A |
Protein | p.L585I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |