POLE2 Chromosome 14
DNA polymerase epsilon 2, accessory subunit
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What This Gene Does
DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
DNA polymerases
Locus Type
gene with protein product
Location
14q21.3
Ensembl
ENSG00000100479
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS546224864 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751563432 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755132837 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759022429 | Health Risk | Conflicting classifications of pathogenicity | — |