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| Gene | BARD1 |
| Variant | R642G |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BARD1 R642G lies within BRCT domain 1 of the Bard1 protein (UniProt.org). R642G results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
BARD1 mutant BARD1 R642G |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214730488T>C |
| cDNA | c.1924A>G |
| Protein | p.R642G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001282543.2 | chr2:g.214730431T>C | c.1924A>G | p.R642G | RefSeq | GRCh38/hg38 |
| NM_000465 | chr2:g.214730488T>C | c.1924A>G | p.R642G | RefSeq | GRCh38/hg38 |
| NM_000465.3 | chr2:g.214730488T>C | c.1924A>G | p.R642G | RefSeq | GRCh38/hg38 |
| NM_001282543.1 | chr2:g.214730431T>C | c.1924A>G | p.R642G | RefSeq | GRCh38/hg38 |
| NM_001282543 | chr2:g.214730431T>C | c.1924A>G | p.R642G | RefSeq | GRCh38/hg38 |
| NM_000465.4 | chr2:g.214730488T>C | c.1924A>G | p.R642G | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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