POLE2 DNA polymerase epsilon 2, accessory subunit
Gene ID: 5427, updated on 7-Apr-2024Gene type: protein coding
Also known as: DPE2
- See all available tests in GTR for this gene
- Go to complete Gene record for POLE2
- Go to Variation Viewer for POLE2 variants
Summary
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]
Genomic context
- Location:
- 14q21.3
- Sequence:
- Chromosome: 14; NC_000014.9 (49643555..49688214, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POLE2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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