PRKRA Chromosome 2
Protein activator of interferon induced protein kinase EIF2AK2
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What This Gene Does
This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
Gene Info
Gene Group
RISC loading complex subunits
Locus Type
gene with protein product
Location
2q31.2
Ensembl
ENSG00000180228
Associated Conditions (3)
Dystonia 16
Inborn genetic diseases
PRKRA-related disorder
Key Variants
RS1235471739
Conflicting classifications of pathogenicity
Dystonia 16, Dystonia 16
Health Risk
RS148050153
Conflicting classifications of pathogenicity
Dystonia 16, Inborn genetic diseases, Dystonia 16
Health Risk
RS181793341
Conflicting classifications of pathogenicity
Dystonia 16, Dystonia 16
Health Risk
RS3997877
Conflicting classifications of pathogenicity
Dystonia 16, Dystonia 16
Health Risk
RS3997879
Conflicting classifications of pathogenicity
Dystonia 16, Dystonia 16
Health Risk
RS763093482
Conflicting classifications of pathogenicity
Dystonia 16, Dystonia 16
Health Risk
RS775832077
Likely pathogenic
Dystonia 16, Dystonia 16
Health Risk
RS730880307
Pathogenic
Dystonia 16, Dystonia 16
Health Risk
RS121434410
Pathogenic/Likely pathogenic
Dystonia 16, PRKRA-related disorder, Dystonia 16
Health Risk
RS752452731
Pathogenic/Likely pathogenic
Dystonia 16, Dystonia 16
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1235471739 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 16, Dystonia 16 |
| RS148050153 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 16, Inborn genetic diseases, Dystonia 16 |
| RS181793341 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 16, Dystonia 16 |
| RS3997877 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 16, Dystonia 16 |
| RS3997879 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 16, Dystonia 16 |
| RS763093482 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 16, Dystonia 16 |
| RS775832077 | Health Risk | Likely pathogenic | Dystonia 16, Dystonia 16 |
| RS730880307 | Health Risk | Pathogenic | Dystonia 16, Dystonia 16 |
| RS121434410 | Health Risk | Pathogenic/Likely pathogenic | Dystonia 16, PRKRA-related disorder, Dystonia 16 |
| RS752452731 | Health Risk | Pathogenic/Likely pathogenic | Dystonia 16, Dystonia 16 |