Gene Variant Detail

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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

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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

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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