BARD1 Q564H
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

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.

Transcript NM_000465.4
gDNA chr2:g.214745840C>A
cDNA c.1692G>T
Protein p.Q564H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465 chr2:g.214745840C>A c.1692G>T p.Q564H RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214745840C>A c.1692G>T p.Q564H RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214745840C>A c.1692G>T p.Q564H RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214745840C>A c.1692G>T p.Q564H 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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References