BARD1 T343I
Gene Variant Detail

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Gene BARD1
Variant T343I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BARD1 T343I does not lie within any known functional domains of the Bard1 protein (UniProt.org). T343I has been associated with increased loss of heterozygosity (LOH) in patient samples and results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 T343I

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Transcript NM_000465.4
gDNA chr2:g.214780846G>A
cDNA c.1028C>T
Protein p.T343I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047445350.1 chr2:g.214780846G>A c.1028C>T p.T343I RefSeq GRCh38/hg38
NM_000465 chr2:g.214780846G>A c.1028C>T p.T343I RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214780846G>A c.1028C>T p.T343I RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214780846G>A c.1028C>T p.T343I 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 T343I unknown