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| Gene | POLE |
| Variant | A456P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | POLE A456P lies within the exonuclease domain of the Pole protein (PMID: 29352080). A456P has been identified in the scientific literature (PMID: 31829442, PMID: 31624068, PMID: 34910396), but has not been biochemically characterized, and therefore, its effect on Pole protein function is unknown (PubMed, Sep 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
POLE mutant POLE A456P |
| Transcript | NM_006231.4 |
| gDNA | chr12:g.132673271C>G |
| cDNA | c.1366G>C |
| Protein | p.A456P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011534795.4 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| XM_047429018.1 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| NM_006231 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| XM_011534802.3 | chr12:g.132643473C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| NM_006231.3 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| XM_011534800 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| XM_011534795.3 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| XM_011534799.2 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| XM_011534795 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| XM_011534799.3 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| XM_011534799 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| XM_011534802 | chr12:g.132643473C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| NM_006231.4 | chr12:g.132673271C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| XM_011534802.4 | chr12:g.132643473C>G | c.1366G>C | p.A456P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| POLE A456P | unknown |