BARD1 C53W
Gene Variant Detail

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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

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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_017004614 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
XM_017004614.1 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_001282549.1 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
XM_017004613 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
XM_047445350.1 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
XM_017004613.1 chr2:g.214797117A>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 chr2:g.214797117A>C c.159T>G p.C53W RefSeq GRCh38/hg38
NM_001282543 chr2:g.214792445A>C c.159T>G p.C53W RefSeq GRCh38/hg38
NM_001282548.1 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
NM_001282545.2 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 chr2:g.214797117A>C c.159T>G p.C53W RefSeq GRCh38/hg38
NM_001282545.1 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_001282549.2 chr2:g.214797117A>C c.159T>G p.C53W RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References