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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 results in decreased homology-directed DNA repair activity in cell culture (PMID: 30925164), and therefore, is predicted to lead to a loss of Bard1 protein function. |
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 |