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| Gene | BARD1 |
| Variant | N356I |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BARD1 N356I does not lie within any known functional domains of the Bard1 protein (UniProt.org). N356I retains the ability to bind Brca1 (PMID: 26350354), but 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 N356I |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214780807T>A |
| cDNA | c.1067A>T |
| Protein | p.N356I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000465 | chr2:g.214780807T>A | c.1067A>T | p.N356I | RefSeq | GRCh38/hg38 |
| NM_000465.3 | chr2:g.214780807T>A | c.1067A>T | p.N356I | RefSeq | GRCh38/hg38 |
| NM_000465.4 | chr2:g.214780807T>A | c.1067A>T | p.N356I | RefSeq | GRCh38/hg38 |
| XM_047445350.1 | chr2:g.214780807T>A | c.1067A>T | p.N356I | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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