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

6 papers

NM_001013703.4

p.R463*

c.1387C>T

Surrounding Variants

2 papers

NM_001013703.4

p.R463fs

c.1387_1388fs

1 paper

NM_001013703.4

p.R463Q

c.1388G>A

10 papers

NM_001013703.4

p.V464delFs

c.1392delT

7 papers

NM_001013703.4

p.R465fs

c.1393_1394fs

2 papers

NM_001013703.4

p.R465C

c.1393C>T

3 papers

NM_001013703.4

p.R465fs

c.1393_1394fs

1 paper

NM_001013703.4

p.E460E

c.1380G>A

1 paper

NM_001013703.4

p.C454*

c.1362C>A

1 paper

NM_001013703.4

p.T475A

c.1423A>G

1 paper

NM_001013703.4

p.T475M

c.1424C>T

1 paper

NM_001013703.4

p.K448E

c.1342A>G

1 paper

NM_001013703.4

p.K478E

c.1432A>G