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 | 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 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000465.4 | chr2:g.214767581G>A | c.1469C>T | p.T490I | RefSeq | GRCh38/hg38 |
| XM_047445350.1 | chr2:g.214767581G>A | c.1469C>T | p.T490I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|