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

2 papers

NM_003690.5

p.S22R

c.66T>A

Surrounding Variants

2 papers

NM_003690.5

p.S22R

c.66T>G

1 paper

NM_003690.5

p.S22G

c.64A>G

2 papers

NM_003690.5

p.S22R

c.64A>C

1 paper

NM_003690.5

p.G24E

c.71G>A

1 paper

NM_003690.5

p.S22Splc

c.66-6T>C

1 paper

NM_003690.5

p.S22Splc

c.66-7T>C

1 paper

NM_003690.5

p.S22Splc

c.66-8T>A

1 paper

NM_003690.5

p.K25R

c.74A>G

1 paper

NM_003690.5

p.S22Splc

c.66-14T>A

1 paper

NM_003690.5

p.A29_K30ins7

c.85_89ins21

1 paper

NM_003690.5

p.S22Splc

c.66-30G>A

4 papers

NM_003690.5

p.T34S

c.100A>T