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Gene | PALB2 |
Variant | L931P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 L931P lies within WD repeat 2 of the Palb2 protein (UniProt.org). L931P does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 L931P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23624051A>G |
cDNA | c.2792T>C |
Protein | p.L931P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |