PRKDC Chromosome 8
Protein kinase, DNA-activated, catalytic subunit
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What This Gene Does
This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Armadillo like helical domain containing|Phosphatidylinositol 3-kinase-related kinase family"
Locus Type
gene with protein product
Location
8q11.21
Ensembl
ENSG00000253729
Associated Conditions (3)
Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC-related disorder
Immunodeficiency 26 without neurologic abnormalities
Key Variants
RS1037182844
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS1308530637
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS1438382972
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS1463023336
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS1490966994
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS191531119
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS199731143
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS200126714
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS200729621
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS200774352
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS201214138
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
RS201231274
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder, Severe combined immunodeficiency due to DNA-PKcs deficiency
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587777686 | Health Risk | Pathogenic | Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |