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Gene | BARD1 |
Variant | C645R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BARD1 C645R lies within BRCT domain 1 of the Bard1 protein (UniProt.org). C645R confers a loss of function on the Bard1 protein as indicated by decreased Tp53 protein stability, loss of growth inhibition and apoptosis in cell culture (PMID: 16061562), decreased interaction with Obg like ATPase 1, Ola1 (PMID: 29858377), and pre-rRNA in an in vitro analysis, and inhibits localization to double strand breaks in culture (PMID: 37789001). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 C645R |
Transcript | NM_000465.4 |
gDNA | chr2:g.214730479A>G |
cDNA | c.1933T>C |
Protein | p.C645R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465 | chr2:g.214730479A>G | c.1933T>C | p.C645R | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214730479A>G | c.1933T>C | p.C645R | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214730479A>G | c.1933T>C | p.C645R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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