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

1 paper

NM_001013703.4

p.L508F

c.1524A>T

Surrounding Variants

1 paper

NM_001013703.4

p.L508F

c.1524A>C

1 paper

NM_001013703.4

p.Q513E

c.1537C>G

1 paper

NM_001013703.4

p.Q495L

c.1484A>T

1 paper

NM_001013703.4

p.L491F

c.1471C>T

1 paper

NM_001013703.4

p.L491delFs

c.1472_1473delTC

2 papers

NM_001013703.4

p.L489P

c.1466T>C

1 paper

NM_001013703.4

p.R483C

c.1447C>T

1 paper

NM_001013703.4

p.K478E

c.1432A>G

1 paper

NM_001013703.4

p.T475M

c.1424C>T

1 paper

NM_001013703.4

p.T475A

c.1423A>G

7 papers

NM_001013703.4

p.R465fs

c.1393_1394fs

2 papers

NM_001013703.4

p.R465C

c.1393C>T