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.Q132_E133Splc

c.397-5T>C

Surrounding Variants

1 paper

NM_003690.5

p.Q132_E133Splc

c.397-11T>G

1 paper

NM_003690.5

p.Q132_E133Splc

c.397-20G>T

1 paper

NM_003690.5

p.L147L

c.441T>C

1 paper

NM_003690.5

p.E150A

c.449A>C

1 paper

NM_003690.5

p.P153S

c.457C>T

1 paper

NM_003690.5

p.E158delFs

c.474delT

1 paper

NM_003690.5

p.T161insFs

c.482_483ins49

1 paper

NM_003690.5

p.T161T

c.483A>T

1 paper

NM_003690.5

p.R164K

c.491G>A

1 paper

NM_003690.5

p.T171P

c.511A>C

1 paper

NM_003690.5

p.G172Splc

c.514+2T>A

5 papers

NM_003690.5

p.S130P

c.388T>C