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Gene | PALB2 |
Variant | T413S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 T413S lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). T413S results in impaired chromatin binding (PMID: 29387807, PMID: 32041954), supports Rad51 foci but not gamma-H2AX foci formation in response to genotoxic stress, and fails to rescue genotoxic sensitivity in PALB2-null cells in culture (PMID: 29387807). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 T413S |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635309T>A |
cDNA | c.1237A>T |
Protein | p.T413S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |