BARD1 Q564H
Gene Variant Detail

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Gene BARD1
Variant Q564H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BARD1 Q564H lies within BRCT domain 1 of the Bard1 protein (UniProt.org). Q564H results in decreased Tp53 protein stability, loss of growth inhibition and apoptosis in cell culture (PMID: 16061562) and a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 Q564H

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Transcript NM_000465.4
gDNA chr2:g.214745840C>A
cDNA c.1692G>T
Protein p.Q564H
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
  • 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.