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Gene | PALB2 |
Variant | L35P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 L35P lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L35P confers a loss of function to the Palb2 protein as demonstrated by a loss of Brca1 binding, Rad51 foci formation, and homology-directed DNA repair activity in cultured cells, and failure to rescue PARP inhibitor sensitivity in PALB2-null cells (PMID: 28319063, PMID: 31586400, PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 L35P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23638074A>G |
cDNA | c.104T>C |
Protein | p.L35P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |