POLE Chromosome 12

DNA polymerase epsilon, catalytic subunit
1210 variants 1 Drug Response 1209 Health Risk

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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
RS2042628623 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042746339 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS2042772263 Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Hereditary cancer-predisposing syndrome, POLE-related disorder
RS2042823464 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042846526 Health Risk Conflicting classifications of pathogenicity —
RS2042861410 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042945374 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042958349 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042972341 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2043025774 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2043045437 Health Risk Conflicting classifications of pathogenicity —
RS2043084432 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2043086264 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2043122997 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2043123482 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2043133987 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2043138492 Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita
RS2043139110 Health Risk Conflicting classifications of pathogenicity —
RS2043148194 Health Risk Conflicting classifications of pathogenicity —
RS2043160442 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2043162603 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135947998 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135949491 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135958616 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135962410 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135975361 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135995555 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS2136011317 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136012123 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136020791 Health Risk Conflicting classifications of pathogenicity —
RS2136027025 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136029186 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138427647 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138460253 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138460365 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138464484 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138475576 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138484952 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138511721 Health Risk Conflicting classifications of pathogenicity —
RS2138523727 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS2138525867 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138530347 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138535474 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138604919 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138615621 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138615931 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138660154 Health Risk Conflicting classifications of pathogenicity —
RS2138677703 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138689635 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138690983 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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