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Gene | POLE |
Variant | S297Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | POLE S297Y lies within the exonuclease domain of the Pole protein (PMID: 29352080). S297Y has been identified in the scientific literature (PMID: 35398880), 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 S297Y |
Transcript | NM_006231.4 |
gDNA | chr12:g.132676565G>T |
cDNA | c.890C>A |
Protein | p.S297Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |