BARD1 A40V
Gene Variant Detail

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Gene BARD1
Variant A40V
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions BARD1 A40V lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). A40V results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture in one study (PMID: 30925164), and demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture in another study (PMID: 39387837), and therefore, is predicted to have no effect on Bard1 protein function.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 A40V

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Transcript NM_000465.4
gDNA chr2:g.214809451G>A
cDNA c.119C>T
Protein p.A40V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282548.1 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282549.1 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
XM_017004613.2 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282545 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282543 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
XM_017004613 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
XM_017004613.1 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282548 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282545.1 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282545.2 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282549 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282543.1 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_000465 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282549.2 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
XM_017004614.2 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282548.2 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
XM_017004614.1 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_001282543.2 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
XM_017004614 chr2:g.214809451G>A c.119C>T p.A40V RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214809451G>A c.119C>T p.A40V 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")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
BARD1 A40V no effect - predicted