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Gene | POLE |
Variant | A463V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | POLE A463V lies within the exonuclease domain of the Pole protein (PMID: 29352080). A463V has been identified in the scientific literature (PMID: 35398880, PMID: 29056344), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
POLE mutant POLE A463V |
Transcript | NM_006231.4 |
gDNA | chr12:g.132673249G>A |
cDNA | c.1388C>T |
Protein | p.A463V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |