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| Gene | POLE |
| Variant | C333S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | POLE C333S lies within the exonuclease domain of the Pole protein (PMID: 29352080). C333S has been identified in the scientific literature (PMID: 35817971), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Aug 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
POLE mutant POLE C333S |
| Transcript | NM_006231.4 |
| gDNA | chr12:g.132676117A>T |
| cDNA | c.997T>A |
| Protein | p.C333S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011534799.2 | chr12:g.132676117A>T | c.997T>A | p.C333S | RefSeq | GRCh38/hg38 |
| XM_011534795.3 | chr12:g.132676117A>T | c.997T>A | p.C333S | RefSeq | GRCh38/hg38 |
| XM_047429018.1 | chr12:g.132676117A>T | c.997T>A | p.C333S | RefSeq | GRCh38/hg38 |
| XM_011534799.3 | chr12:g.132676117A>T | c.997T>A | p.C333S | RefSeq | GRCh38/hg38 |
| NM_006231.3 | chr12:g.132676117A>T | c.997T>A | p.C333S | RefSeq | GRCh38/hg38 |
| XM_011534795.4 | chr12:g.132676117A>T | c.997T>A | p.C333S | RefSeq | GRCh38/hg38 |
| NM_006231.4 | chr12:g.132676117A>T | c.997T>A | p.C333S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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