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Gene | BARD1 |
Variant | C53W |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BARD1 C53W lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C53W confers a loss of function to the Bard1 protein as demonstrated by loss of nucleosome binding and ubiquitination of histone H2A in in vitro assays (PMID: 29367421), and reduced transcriptional repression of the estrogen metabolism genes Cyp1a1 and Cyp3a4 (PMID: 29367421) and decreased homology-directed DNA repair activity in cultured cells (PMID: 30925164). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 C53W |
Transcript | NM_000465.4 |
gDNA | chr2:g.214797117A>C |
cDNA | c.159T>G |
Protein | p.C53W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017004613.1 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282543.2 | chr2:g.214792445A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282549 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282548.1 | chr2:g.214752555A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
XM_017004613.2 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
XM_017004614 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
XM_017004614.2 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282549.1 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
XM_017004614.1 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282543.1 | chr2:g.214792445A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282543 | chr2:g.214792445A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282548 | chr2:g.214752555A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282545.2 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282548.2 | chr2:g.214752555A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282545.1 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
XM_017004613 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282545 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
NM_001282549.2 | chr2:g.214797117A>C | c.159T>G | p.C53W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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