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Gene | PALB2 |
Variant | R153W |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PALB2 R153W lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). R153W results in homology-directed DNA repair activity similar to wild-type Palb2 in cultured cells (PMID: 35853885), and therefore, is predicted to have no effect on Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 R153W |
Transcript | NM_024675.4 |
gDNA | chr16:g.23636089T>A |
cDNA | c.457A>T |
Protein | p.R153W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |