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.F254L

c.762T>A

Surrounding Variants

1 paper

NM_003690.5

p.F254L

c.762T>G

1 paper

NM_003690.5

p.F254L

c.760T>C

1 paper

NM_003690.5

p.E251ins4

c.752_753ins12

1 paper

NM_003690.5

p.E251ins11

c.752_753ins33

1 paper

NM_003690.5

p.T257_Y258delFs

c.771_772delAT

1 paper

NM_003690.5

p.D260G

c.779A>G

3 papers

NM_003690.5

p.D262Splc

c.784+1G>A

1 paper

NM_003690.5

p.E247K

c.739G>A

1 paper

NM_003690.5

p.D262Splc

c.784+6A>T

1 paper

NM_003690.5

p.D240G

c.719A>G

1 paper

NM_003690.5

p.T239A

c.715A>G

1 paper

NM_003690.5

p.P237ins4

c.710_711ins12