POLE Chromosome 12
DNA polymerase epsilon, catalytic subunit
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What This Gene Does
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]
Gene Info
Gene Group
DNA polymerases
Locus Type
gene with protein product
Location
12q24.33
Ensembl
ENSG00000177084
Associated Conditions (47)
Programmed death ligand-1 (PD-L1) blocking antibody response
Hereditary cancer-predisposing syndrome
Colorectal cancer
susceptibility to
12
Polymerase proofreading-related adenomatous polyposis
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Intrauterine growth retardation
metaphyseal dysplasia
adrenal hypoplasia congenita
genital anomalies
and immunodeficiency
POLE-related disorder
Neoplasm
Endometrioid adenocarcinoma
Familial colorectal cancer type X
10
Familial colorectal cancer
Hereditary cancer
Carcinoma of colon
+27 more conditions
Key Variants
RS1555229108
drug response
Programmed death ligand-1 (PD-L1) blocking antibody response, Programmed death ligand-1 (PD-L1) blocking antibody response
Drug Response
RS1000912264
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
Health Risk
RS1003504532
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1004972253
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis, Hereditary cancer-predisposing syndrome
Health Risk
RS1010746038
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1011427549
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1012418859
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1014146082
Conflicting classifications of pathogenicity
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Colorectal cancer, susceptibility to
Health Risk
RS1018143132
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 12
Health Risk
RS1028428160
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Intrauterine growth retardation, metaphyseal dysplasia
Health Risk
RS1032311596
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 12
Health Risk
RS1036643774
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (1210)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS761329565 | Health Risk | Pathogenic | Colorectal cancer, susceptibility to, 12 |
| RS765702675 | Health Risk | Pathogenic | — |
| RS767254003 | Health Risk | Pathogenic | — |
| RS769948095 | Health Risk | Pathogenic | — |
| RS773908359 | Health Risk | Pathogenic | — |
| RS775140280 | Health Risk | Pathogenic | — |
| RS781360770 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS903152944 | Health Risk | Pathogenic | — |
| RS2042021811 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS762985435 | Health Risk | Pathogenic/Likely pathogenic | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita |