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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.