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.T239A

c.715A>G

Surrounding Variants

1 paper

NM_003690.5

p.D240G

c.719A>G

1 paper

NM_003690.5

p.P237ins4

c.710_711ins12

1 paper

NM_003690.5

p.P237ins4

c.710_711ins12

2 papers

NM_003690.5

p.S235T

c.704G>C

1 paper

NM_003690.5

p.E247K

c.739G>A

1 paper

NM_003690.5

p.L229L

c.685C>T

1 paper

NM_003690.5

p.N227S

c.680A>G

1 paper

NM_003690.5

p.E251ins4

c.752_753ins12

1 paper

NM_003690.5

p.E251ins11

c.752_753ins33

4 papers

NM_003690.5

p.I226N

c.677T>A

1 paper

NM_003690.5

p.E224G

c.671A>G

1 paper

NM_003690.5

p.F254L

c.760T>C