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Gene | BARD1 |
Variant | R565C |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BARD1 R565C lies within BRCT domain 1 of the Bard1 protein (UniProt.org). R565C is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 R565C |
Transcript | NM_000465.4 |
gDNA | chr2:g.214745839G>A |
cDNA | c.1693C>T |
Protein | p.R565C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.3 | chr2:g.214745839G>A | c.1693C>T | p.R565C | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214745839G>A | c.1693C>T | p.R565C | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214745839G>A | c.1693C>T | p.R565C | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214745839G>A | c.1693C>T | p.R565C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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