BARD1 K312N
Gene Variant Detail

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Gene BARD1
Variant K312N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BARD1 K312N does not lie within any known functional domains of the Bard1 protein (UniProt.org). K312N 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 K312N

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Transcript NM_000465.4
gDNA chr2:g.214780938T>G
cDNA c.936A>C
Protein p.K312N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.3 chr2:g.214780938T>G c.936A>C p.K312N RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214780938T>G c.936A>C p.K312N RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214780938T>G c.936A>C p.K312N RefSeq GRCh38/hg38
NM_000465 chr2:g.214780938T>G c.936A>C p.K312N RefSeq GRCh38/hg38

Filtering

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  • 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")

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