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Gene | PALB2 |
Variant | V410A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 V410A lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). V410A results in decreased chromatin binding in an in vitro assay (PMID: 32041954), 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 V410A |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635317A>G |
cDNA | c.1229T>C |
Protein | p.V410A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |