BARD1 V154fs
Gene Variant Detail

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Gene BARD1
Variant V154fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions BARD1 V154fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 154 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). V154fs results in a loss of Bard1 protein expression and decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 V154fs

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Transcript NM_000465.4
gDNA chr2:g.(214781414_214781415)
cDNA c.(460_459)
Protein p.V154fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.4 chr2:g.(214781414_214781415) c.(460_459) p.V154fs RefSeq GRCh38/hg38
NM_000465 chr2:g.(214781414_214781415) c.(460_459) p.V154fs RefSeq GRCh38/hg38
NM_000465.3 chr2:g.(214781414_214781415) c.(460_459) p.V154fs RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.(214781414_214781415) c.(460_459) p.V154fs RefSeq GRCh38/hg38

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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")

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