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.P64S

c.190C>T

Surrounding Variants

2 papers

NM_003690.5

p.I61I

c.183A>T

1 paper

NM_003690.5

p.F66F

c.198C>T

1 paper

NM_003690.5

p.F68L

c.202T>C

1 paper

NM_003690.5

p.V59V

c.177G>C

1 paper

NM_003690.5

p.F68L

c.204C>G

1 paper

NM_003690.5

p.F68L

c.204C>A

3 papers

NM_003690.5

p.D58G

c.173A>G

1 paper

NM_003690.5

p.S57Y

c.170C>A

2 papers

NM_003690.5

p.V72F

c.214G>T

1 paper

NM_003690.5

p.R56*

c.166A>T

1 paper

NM_003690.5

p.C54Y

c.161G>A

1 paper

NM_003690.5

p.C77R

c.229T>C