BARD1 V85M
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 V85M
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BARD1 V85M lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). V85M demonstrates Bard1 subcellular localization and Brca1, Palb2, and Rad51c interaction similar to wild-type Bard1, but results in impaired homology-directed DNA repair activity, decreased DNA repair post-irradiation, decreased H2A ubiquitination, and increased sensitivity to olaparib and cisplatin treatment in cultured cells (PMID: 39387837).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 V85M

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.214792408C>T
cDNA c.253G>A
Protein p.V85M
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.