Varaico: Literature-Extracted Genetic Variants

EIF2AK4

371 papers

RefSeq Summary

This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The en...

Pfam Domains

RWDaa 21–134UCSCRWD domain

Pkinaseaa 325–539UCSCProtein kinase domain

Pkinaseaa 590–661UCSCProtein kinase domain

Pkinaseaa 789–1001UCSCProtein kinase domain

tRNA-synt_Hisaa 1056–1381UCSCHistidyl-tRNA synthetase

HGTP_anticodon2aa 1393–1648UCSCAnticodon binding domain of tRNAs

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2 alpha kinase 4

HGNC Alias Symbols

GCN2; KIAA1338

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

41 papers

NM_001013703.4

p.S808G

c.2422A>G

Surrounding Variants

9 papers

NM_001013703.4

p.E803V

c.2408A>T

1 paper

NM_001013703.4

p.M802I

c.2406G>A

1 paper

NM_001013703.4

p.M802I

c.2406G>C

1 paper

NM_001013703.4

p.M802I

c.2406G>T

1 paper

NM_001013703.4

p.M802V

c.2404A>G

1 paper

NM_001013703.4

p.Q816R

c.2447A>G

1 paper

NM_001013703.4

p.Y819fs

c.2455_2456fs

1 paper

NM_001013703.4

p.Y819delFs

c.2457delT

4 papers

NM_001013703.4

p.R820*

c.2458C>T

1 paper

NM_001013703.4

p.V823A

c.2468T>C

1 paper

NM_001013703.4

p.L825F

c.2473C>T

1 paper

NM_001013703.4

p.R830*

c.2488C>T