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

2 papers

NM_001013703.4

p.A698T

c.2092G>A

Surrounding Variants

1 paper

NM_001013703.4

p.P686P

c.2058G>A

1 paper

NM_001013703.4

p.W711C

c.2133G>C

1 paper

NM_001013703.4

p.W711C

c.2133G>T

1 paper

NM_001013703.4

p.T713insFs

c.2137_2138dupAC

3 papers

NM_001013703.4

p.S712_T713insFs

c.2136_2139dup4

1 paper

NM_001013703.4

p.T713insFs

c.2138dupC

4 papers

NM_001013703.4

p.S714fs

c.2140_2141fs

1 paper

NM_001013703.4

p.S718*

c.2153C>A

1 paper

NM_001013703.4

p.A676S

c.2026G>T

1 paper

NM_001013703.4

p.L675L

c.2025G>C

1 paper

NM_001013703.4

p.L675V

c.2023C>G

2 papers

NM_001013703.4

p.P674S

c.2020C>T