BARD1 R112*
Gene Variant Detail

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Gene BARD1
Variant R112*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions BARD1 R112* results in a premature truncation of the Bard1 protein at amino acid 112 of 777 (UniProt.org). R112* results in Bard1 expression similar to wild-type but decreased homology-directed repair activity, increased double-strand DNA breaks, and increased sensitivity to olaparib and cisplatin in cultured cells (PMID: 37688570).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 R112*

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Transcript NM_000465.4
gDNA chr2:g.214792327G>A
cDNA c.334C>T
Protein p.R112*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.4 chr2:g.214792327G>A c.334C>T p.R112* RefSeq GRCh38/hg38
NM_001282549.2 chr2:g.214792327G>A c.334C>T p.R112* RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214792327G>A c.334C>T p.R112* 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 R112* loss of function