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Gene | PALB2 |
Variant | P1097R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 P1097R lies within WD repeat 5 of the Palb2 protein (UniProt.org). P1097R results in decreased homology-directed DNA repair activity in cultured cells (PMID: 33964450), and therefore, is predicted to lead to a loss of Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 P1097R |
Transcript | NM_024675.4 |
gDNA | chr16:g.23607924G>C |
cDNA | c.3290C>G |
Protein | p.P1097R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |