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.M1_S2insFs

c.3_4ins7

Surrounding Variants

1 paper

NM_003690.5

p.M1_S2insFs

c.3_4ins7

1 paper

NM_003690.5

p.S2insFs

c.5_6ins44

1 paper

NM_003690.5

p.M1insFs

c.1_2ins47

1 paper

NM_003690.5

p.Q3*

c.7C>T

4 papers

NM_003690.5

p.M1L

c.1A>T

1 paper

NM_003690.5

p.M1V

c.1A>G

6 papers

NM_003690.5

p.M1L

c.1A>C

1 paper

NM_003690.5

p.Q3H

c.9G>C

1 paper

NM_003690.5

p.Q3Q

c.9G>A

1 paper

NM_003690.5

p.S4S

c.12C>T

1 paper

NM_003690.5

p.R7fs

c.19_20fs

2 papers

NM_003690.5

p.A8fs

c.22_23fs