POLE
Universal Cellular Machinery · DNA Replication & Telomere Maintenance
Why does the location of a POLE variant matter?
POLE encodes the catalytic component of DNA polymerase epsilon, which participates in DNA replication and repair. Changes affecting different functions of this protein can have different consequences, so all variants should not receive one risk label.
- Common Gene Name
- DNA polymerase epsilon, catalytic subunit
- NCBI Gene ID
- 5426
- Chromosome
- 12
Clinical Evidence Status
Actionability report availableEstablished disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (2 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| POLE-related polyposis and colorectal cancer syndrome | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2023-07-05 |
| POLE and POLD1 associated susceptibility to CRC | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2022-02-09 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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