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Gene | BARD1 |
Variant | P24S |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | BARD1 P24S does not lie within any known functional domains of the Bard1 protein (UniProt.org). P24S demonstrates similar homology-directed DNA repair activity (PMID: 39387837), cell growth and apoptosis (PMID: 16061562), genome stability, ubiquitin-conjugation, Brca1 and Rad51 foci formation, and DNA damage response as wild-type Bard1 in cultured cells, and is not transforming in Tp53-null cells in a mouse model (PMID: 33623049). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 P24S |
Transcript | NM_000465.4 |
gDNA | chr2:g.214809500G>A |
cDNA | c.70C>T |
Protein | p.P24S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |