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

1–12 of 150 variants

36 papers

NM_003690.5

p.P222L

c.665C>T

10 papers

NM_003690.5

p.P127L

c.380C>T

8 papers

NM_003690.5

p.C213R

c.637T>C

7 papers

NM_003690.5

p.C213F

c.638G>T

6 papers

NM_003690.5

p.M1L

c.1A>C

6 papers

NM_003690.5

p.H89delFs

c.266_267delAT

5 papers

NM_003690.5

p.N102S

c.305A>G

5 papers

NM_003690.5

p.S130P

c.388T>C

4 papers

NM_003690.5

p.M1L

c.1A>T

4 papers

NM_003690.5

p.A8delFs

c.22_23delGC

4 papers

NM_003690.5

p.T34S

c.100A>T

4 papers

NM_003690.5

p.C77S

c.229T>A