BARD1 K209Efs*5
Gene Variant Detail

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Gene BARD1
Variant K209Efs*5
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions BARD1 K209Efs*5 indicates a shift in the reading frame starting at amino acid 209 and terminating 5 residues downstream causing a premature truncation of the 777 amino acid Bard1 protein (UniProt.org). K209Efs*5 has not been biochemically characterized however, due to the effects of other truncation mutations downstream of K209 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 K209Efs*5

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Transcript NM_000465.4
gDNA chr2:g.214781250dupC
cDNA c.624dupG
Protein p.K209Efs*5
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.4 chr2:g.214781250dupC c.624dupG p.K209Efs*5 RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214781250dupC c.624dupG p.K209Efs*5 RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214781250dupC c.624dupG p.K209Efs*5 RefSeq GRCh38/hg38
NM_000465 chr2:g.214781250dupC c.624dupG p.K209Efs*5 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 K209Efs*5 loss of function - predicted Olaparib