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

2 papers

NM_003690.5

p.Y42Y

c.126C>T

Surrounding Variants

1 paper

NM_003690.5

p.G43C

c.127G>T

1 paper

NM_003690.5

p.G43S

c.127G>A

1 paper

NM_001139517.1

p.K34*

c.100A>T

1 paper

NM_003690.5

p.M44delFs

c.131_132delCA

1 paper

NM_003690.5

p.T46I

c.137C>T

1 paper

NM_003690.5

p.V38insFs

c.112_113ins8

1 paper

NM_003690.5

p.Q37del1

c.109_111delCTG

2 papers

NM_003690.5

p.K47R

c.140A>G

1 paper

NM_003690.5

p.T34T

c.102A>T

1 paper

NM_003690.5

p.T34I

c.101C>T

4 papers

NM_003690.5

p.T34S

c.100A>T

1 paper

NM_003690.5

p.C54Y

c.161G>A