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 | A460T |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | BARD1 A460T lies within ANK repeat 2 of the Bard1 protein (UniProt.org). A460T results in decreased homology-directed DNA repair activity, leads to increased sensitivity to DNA damaging agents in cell culture (PMID: 30925164). |
| Associated Drug Resistance | |
| Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 A460T |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214769249C>T |
| cDNA | c.1378G>A |
| Protein | p.A460T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000465.3 | chr2:g.214769249C>T | c.1378G>A | p.A460T | RefSeq | GRCh38/hg38 |
| NM_000465 | chr2:g.214769249C>T | c.1378G>A | p.A460T | RefSeq | GRCh38/hg38 |
| XM_047445350.1 | chr2:g.214769249C>T | c.1378G>A | p.A460T | RefSeq | GRCh38/hg38 |
| NM_000465.4 | chr2:g.214769249C>T | c.1378G>A | p.A460T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BARD1 A460T | loss of function | Olaparib |