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

3 papers

NM_003690.5

p.P11L

c.32C>T

Surrounding Variants

1 paper

NM_003690.5

p.A10insFs

c.29_30ins7

1 paper

NM_003690.5

p.A10P

c.28G>C

1 paper

NM_003690.5

p.E9V

c.26A>T

3 papers

NM_003690.5

p.A8fs

c.22_23fs

4 papers

NM_003690.5

p.A8delFs

c.22_23delGC

2 papers

NM_003690.5

p.A8fs

c.22_23fs

1 paper

NM_003690.5

p.R7fs

c.19_20fs

1 paper

NM_003690.5

p.R15R

c.45C>G

1 paper

NM_003690.5

p.D17G

c.50A>G

1 paper

NM_003690.5

p.S4S

c.12C>T

1 paper

NM_003690.5

p.Q3H

c.9G>C

1 paper

NM_003690.5

p.Q3Q

c.9G>A