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

1–12 of 410 variants

41 papers

NM_001013703.4

p.S808G

c.2422A>G

13 papers

NM_001013703.4

p.P1115L

c.3344C>T

10 papers

NM_001013703.4

p.V464delFs

c.1392delT

10 papers

NM_001013703.4

p.D736_E738ins1

c.2208_2213dup6

9 papers

NM_001013703.4

p.E803V

c.2408A>T

7 papers

NM_001013703.4

p.V385insFs

c.1153dupG

7 papers

NM_001013703.4

p.R465fs

c.1393_1394fs

7 papers

NM_001013703.4

p.R1256*

c.3766C>T

7 papers

NM_001013703.4

p.G1306C

c.3916G>T

6 papers

NM_001013703.4

p.I441L

c.1321A>C

6 papers

NM_001013703.4

p.R463*

c.1387C>T

6 papers

NM_001013703.4

p.P1611_K1612insFs

c.4833_4836dup4