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.E80V

c.239A>T

Surrounding Variants

1 paper

NM_003690.5

p.G81V

c.242G>T

1 paper

NM_003690.5

p.G79Splc

c.236-6A>G

1 paper

NM_003690.5

p.K85E

c.253A>G

1 paper

NM_003690.5

p.R90G

c.268A>G

1 paper

NM_003690.5

p.R90I

c.269G>T

6 papers

NM_003690.5

p.H89delFs

c.266_267delAT

1 paper

NM_003690.5

p.R90_A91insFs

c.270_271ins10

1 paper

NM_003690.5

p.R90_A91insFs

c.270_271ins31

1 paper

NM_003690.5

p.E93*

c.277G>T

1 paper

NM_003690.5

p.I96V

c.286A>G

2 papers

NM_003690.5

p.I96M

c.288A>G

1 paper

NM_003690.5

p.I98V

c.292A>G