BARD1 S241C
Gene Variant Detail

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Gene BARD1
Variant S241C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions BARD1 S241C lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). S241C demonstrates homology-directed DNA repair activity (PMID: 30925164, PMID: 33623049), subcellular localization, genome stability, and ubiquitin ligase activity similar to wild-type Bard1 in culture (PMID: 33623049), and therefore, is predicted to have no effect on Bard1 protein function.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 S241C

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Transcript NM_000465.4
gDNA chr2:g.214781152G>C
cDNA c.722C>G
Protein p.S241C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.3 chr2:g.214781152G>C c.722C>G p.S241C RefSeq GRCh38/hg38
NM_001282548.2 chr2:g.214728879T>A c.721A>T p.S241C RefSeq GRCh38/hg38
NM_000465 chr2:g.214781152G>C c.722C>G p.S241C RefSeq GRCh38/hg38
NM_001282548.1 chr2:g.214728879T>A c.721A>T p.S241C RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214781152G>C c.722C>G p.S241C RefSeq GRCh38/hg38
NM_001282548 chr2:g.214728879T>A c.721A>T p.S241C RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214781152G>C c.722C>G p.S241C RefSeq GRCh38/hg38

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  • 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

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