BARD1 Q564*
Gene Variant Detail

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Gene BARD1
Variant Q564*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions BARD1 Q564* results in a premature truncation of the Bard1 protein at amino acid 564 of 777 (UniProt.org). Q564* confers a loss of function to Bard1 as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164), telomere abnormalities in patient cells, and increased sensitivity to olaparib and cisplatin treatment in cultured cells (PMID: 37688570).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 Q564*

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Transcript NM_000465.4
gDNA chr2:g.214745842G>A
cDNA c.1690C>T
Protein p.Q564*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465 chr2:g.214745842G>A c.1690C>T p.Q564* RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214745842G>A c.1690C>T p.Q564* RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214745842G>A c.1690C>T p.Q564* RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214745842G>A c.1690C>T p.Q564* 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
  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries