BARD1 R658C
Gene Variant Detail

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Gene BARD1
Variant R658C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BARD1 R658C does not lie within any known functional domains of the Bard1 protein (UniProt.org). R658C demonstrates effects on Tp53 stability, cell growth and apoptosis (PMID: 16061562), and homology-directed DNA repair activity similar to wild-type Bard1 in one study (PMID: 39387837), but does not bind to or stabilize Nfkb1 p50 (PMID: 33024116), and results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 R658C

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Transcript NM_000465.4
gDNA chr2:g.214730440G>A
cDNA c.1972C>T
Protein p.R658C
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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