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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 |
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_000465.4 | 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 |
XM_047445350.1 | 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 |
NM_000465 | 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_000465.3 | chr2:g.214781152G>C | c.722C>G | p.S241C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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