BARD1 N295S
Gene Variant Detail

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Gene BARD1
Variant N295S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BARD1 N295S does not lie within any known functional domains of the Bard1 protein (UniProt.org). N295S confers a loss of function on the Bard1 protein as indicated by decreased Tp53 protein stability, loss of growth inhibition and apoptosis in cell culture (PMID: 16061562).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 N295S

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Transcript NM_000465.4
gDNA chr2:g.214780990T>C
cDNA c.884A>G
Protein p.N295S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465 chr2:g.214780990T>C c.884A>G p.N295S RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214780990T>C c.884A>G p.N295S RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214780990T>C c.884A>G p.N295S RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214780990T>C c.884A>G p.N295S 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