BARD1 A40V
Gene Variant Detail

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Gene BARD1
Variant A40V
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions BARD1 A40V lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). A40V results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture in one study (PMID: 30925164), and demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture in another study (PMID: 39387837), and therefore, is predicted to have no effect on Bard1 protein function.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 A40V

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Transcript NM_000465.4
gDNA chr2:g.214809451G>A
cDNA c.119C>T
Protein p.A40V
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
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