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

10 papers

NM_003690.5

p.P127L

c.380C>T

Surrounding Variants

5 papers

NM_003690.5

p.S130P

c.388T>C

1 paper

NM_003690.5

p.Q124*

c.370C>T

1 paper

NM_003690.5

p.D116_S118del0

c.346_354del9

1 paper

NM_003690.5

p.L113*

c.338T>A

1 paper

NM_003690.5

p.V109_D111del3

c.325_332del9

1 paper

NM_003690.5

p.D111H

c.331G>C

1 paper

NM_003690.5

p.C106R

c.316T>C

1 paper

NM_003690.5

p.C106Splc

c.318-2A>T

1 paper

NM_003690.5

p.Q132_E133Splc

c.397-20G>T

1 paper

NM_003690.5

p.Q132_E133Splc

c.397-11T>G

1 paper

NM_003690.5

p.Q132_E133Splc

c.397-5T>C

1 paper

NM_003690.5

p.L147L

c.441T>C