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Gene | BARD1 |
Variant | C83R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BARD1 C83R lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C83R confers a loss of function to the Bard1 protein as demonstrated by impaired nucleosome binding and loss of histone H2A ubiquitination in in vitro assays and reduced transcriptional repression of the estrogen metabolism genes Cyp1a1 and Cyp3a4 in cultured cells (PMID: 29367421). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 C83R |
Transcript | NM_000465.4 |
gDNA | chr2:g.214792414A>G |
cDNA | c.247T>C |
Protein | p.C83R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282549.2 | chr2:g.214792414A>G | c.247T>C | p.C83R | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214792414A>G | c.247T>C | p.C83R | RefSeq | GRCh38/hg38 |
NM_001282549.1 | chr2:g.214792414A>G | c.247T>C | p.C83R | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214792414A>G | c.247T>C | p.C83R | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214792414A>G | c.247T>C | p.C83R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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