PRKCD Chromosome 3
Protein kinase C delta
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What This Gene Does
The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"C2 domain containing protein kinases|Protein kinase C family"
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000163932
Associated Conditions (4)
Autoimmune lymphoproliferative syndrome
type III caused by mutation in PRKCD
Inborn genetic diseases
Lymphoma
Key Variants
RS141992569
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome
Health Risk
RS144572650
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Inborn genetic diseases
Health Risk
RS146289210
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Inborn genetic diseases
Health Risk
RS150331740
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome
Health Risk
RS199785209
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome
Health Risk
RS2107257487
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome
Health Risk
RS33911937
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome
Health Risk
RS35891605
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome
Health Risk
RS374605708
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome
Health Risk
RS606231297
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome
Health Risk
RS781836069
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Inborn genetic diseases
Health Risk
RS782214291
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141992569 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS144572650 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Inborn genetic diseases |
| RS146289210 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Inborn genetic diseases |
| RS150331740 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS199785209 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS2107257487 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS33911937 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS35891605 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS374605708 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS606231297 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS781836069 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Inborn genetic diseases |
| RS782214291 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS782612523 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS879255393 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Inborn genetic diseases |
| RS1295207359 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS1703450134 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS2471094850 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS2471106746 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS1553669486 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS1559629912 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS2107257357 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS2107263484 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS2107267894 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS2471099139 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS398122958 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Lymphoma |
| RS576747810 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Lymphoma |
| RS606231296 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |
| RS781824115 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Autoimmune lymphoproliferative syndrome |