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| Gene | BARD1 |
| Variant | Q581K |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | BARD1 Q581K lies within BRCT domain 1 of the Bard1 protein (UniProt.org). Q581K 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 Q581K |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214745791G>T |
| cDNA | c.1741C>A |
| Protein | p.Q581K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000465.4 | chr2:g.214745791G>T | c.1741C>A | p.Q581K | RefSeq | GRCh38/hg38 |
| XM_047445350.1 | chr2:g.214745791G>T | c.1741C>A | p.Q581K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BARD1 Q581K | no effect - predicted |