BARD1 S660R
Gene Variant Detail

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Gene BARD1
Variant S660R
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BARD1 S660R does not lie within any known functional domains of the Bard1 protein (UniProt.org). S660R results in decreased homology-directed DNA repair activity in cell culture (PMID: 30925164), and therefore, is predicted to lead to a loss of Bard1 protein function.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 S660R

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Transcript NM_000465.4
gDNA chr2:g.214730432G>C
cDNA c.1980C>G
Protein p.S660R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465 chr2:g.214730432G>C c.1980C>G p.S660R RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214730432G>C c.1980C>G p.S660R RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214730432G>C c.1980C>G p.S660R RefSeq 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries