BARD1 V695L
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 V695L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BARD1 V695L lies within BRCT domain 2 of the Bard1 protein (UniProt.org). The functional effect of V695L is conflicting, as it demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture in one study (PMID: 17848578), but decreased homology-directed DNA repair activity in another study (PMID: 30925164), and results in reduced growth inhibition and apoptosis (PMID: 16061562), and reduced Ola1 interaction, centrosomal amplification and localization of Bard1 in cell culture (PMID: 29858377), and decreased ability to activate Ola1 in an in vitro assay (PMID: 35134491).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 V695L

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.214728927C>G
cDNA c.2083G>C
Protein p.V695L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.3 chr2:g.214728927C>G c.2083G>C p.V695L RefSeq GRCh38/hg38
NM_000465 chr2:g.214728927C>G c.2083G>C p.V695L RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214728927C>G c.2083G>C p.V695L 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 Protein Effect Treatment Approaches
BARD1 V695L unknown