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Gene | PALB2 |
Variant | Q559R |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PALB2 Q559R lies within the DNA-binding region of the Palb2 protein (UniProt.org). Q559R is a common Palb2 polymorphism (PMID: 23977390, PMID: 21165770), results in homologous recombination similar to wild-type Palb2 (PMID: 33169439, PMID: 33964450) and does not demonstrate reduced homology-directed DNA repair activity in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 Q559R |
Transcript | NM_024675.4 |
gDNA | chr16:g.23634870T>C |
cDNA | c.1676A>G |
Protein | p.Q559R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |