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Gene | PALB2 |
Variant | R37C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 R37C lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). R37C results in homology-directed DNA repair activity similar to wild-type in cultured cells in one study (PMID: 31636395), but decreased homology-directed DNA repair activity in another study (PMID: 33811135), and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 R37C |
Transcript | NM_024675.4 |
gDNA | chr16:g.23637952G>A |
cDNA | c.109C>T |
Protein | p.R37C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |