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| Gene | BARD1 |
| Variant | V695D |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | BARD1 V695D lies within BRCT domain 2 of the Bard1 protein (UniProt.org). V695D 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 V695D |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214728926A>T |
| cDNA | c.2084T>A |
| Protein | p.V695D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000465.4 | chr2:g.214728926A>T | c.2084T>A | p.V695D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BARD1 V695D | no effect - predicted |