BARD1 S551*
Gene Variant Detail

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Gene BARD1
Variant S551*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions BARD1 S551* results in a premature truncation of the Bard1 protein at amino acid 551 of 777 (UniProt.org). S551* 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 S551*

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Transcript NM_000465.4
gDNA chr2:g.214752472G>T
cDNA c.1652C>A
Protein p.S551*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.4 chr2:g.214752472G>T c.1652C>A p.S551* RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214752472G>T c.1652C>A p.S551* RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214752472G>T c.1652C>A p.S551* RefSeq GRCh38/hg38
NM_000465 chr2:g.214752472G>T c.1652C>A p.S551* 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References