POLE
Chr 12DNA polymerase epsilon, catalytic subunit
Also known as: CRCS12, FILS, IMAGEI, POLE1
This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POLE · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer
RECRUITINGPrevalence of Germline Alterations in Actionable Genes in Endometrial Cancer
NOT YET RECRUITINGPrecision Medicine Applied to the Study of Endometrial Cancer: Application of NGS for Molecular Classification
NOT YET RECRUITINGA Study to Learn More About How Well Sevabertinib Works and How Safe it is Compared With Standard Treatment, in Participants Who Have Advanced Non-small Cell Lung Cancer (NSCLC) With Mutations of the Human Epidermal Growth Factor Receptor 2 (HER2)
RECRUITINGGlobal Patient Registry to Monitor Long-term Safety and Effectiveness of Increlex® in Children and Adolescents With Severe Primary Insulin-like Growth Factor-1 Deficiency (SPIGFD).
RECRUITINGImproving Endometrial Cancer Assessment by Combining Genomic Profiling and Surgical Assessment
RECRUITINGRefining Fertility-sparing Treatment in Endometrial Carcinoma Based on Molecular Classification
RECRUITINGShanghai Child and Adolescent Large-scale Eye Study -High Myopia Registration
ENROLLING BY INVITATIONKPMNG Study of MOlecular Profiling Guided Therapy Based on Genomic Alterations in Advanced Solid Tumors II
RECRUITINGCanadian Profiling and Targeted Agent Utilization Trial (CAPTUR)
RECRUITINGFamilial Adenomatous Poliposys Italian Network (Rete Italiana Poliposi Adenomatosa Familiare)
ACTIVE NOT RECRUITINGPrevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools