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Gene | BARD1 |
Variant | S660R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BARD1 S660R does not lie within any known functional domains of the Bard1 protein (UniProt.org). S660R is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 S660R |
Transcript | NM_000465.4 |
gDNA | chr2:g.214730432G>C |
cDNA | c.1980C>G |
Protein | p.S660R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.3 | chr2:g.214730432G>C | c.1980C>G | p.S660R | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214730432G>C | c.1980C>G | p.S660R | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214730432G>C | c.1980C>G | p.S660R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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