Varaico: Literature-Extracted Genetic Variants

PRKRA

150 papers

RefSeq Summary

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. ...

Pfam Domains

dsrmaa 35–99UCSCDouble-stranded RNA binding motif

dsrmaa 127–192UCSCDouble-stranded RNA binding motif

Gene Aliases

HGNC Name

protein activator of interferon induced protein kinase EIF2AK2

HGNC Alias Symbols

PACT; HSD14; DYT16

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003690.5

p.S221A

c.661T>G

Surrounding Variants

36 papers

NM_003690.5

p.P222L

c.665C>T

1 paper

NM_003690.5

p.R219ins4

c.655_656ins12

1 paper

NM_003690.5

p.G223G

c.669T>A

1 paper

NM_003690.5

p.E224G

c.671A>G

4 papers

NM_003690.5

p.I226N

c.677T>A

1 paper

NM_003690.5

p.C213_T214delFs

c.638_641del4

1 paper

NM_003690.5

p.N227S

c.680A>G

1 paper

NM_003690.5

p.T214N

c.641C>A

7 papers

NM_003690.5

p.C213F

c.638G>T

8 papers

NM_003690.5

p.C213R

c.637T>C

1 paper

NM_003690.5

p.L229L

c.685C>T

1 paper

NM_003690.5

p.H209Y

c.625C>T