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| Gene | BARD1 |
| Variant | P187A |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | BARD1 P187A does not lie within any known functional domains of the Bard1 protein (UniProt.org). P187A results in altered subcellular localization, decreased Brca1, Palb2, and Rad51c interaction, impaired homology-directed DNA repair activity, decreased DNA repair post-irradiation, decreased H2A ubiquitination, and increased sensitivity to olaparib and cisplatin treatment in cultured cells (PMID: 39387837). |
| Associated Drug Resistance | |
| Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 P187A |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214781315G>C |
| cDNA | c.559C>G |
| Protein | p.P187A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000465.4 | chr2:g.214781315G>C | c.559C>G | p.P187A | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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