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.V1632L

c.4894G>T

Surrounding Variants

1 paper

NM_001013703.4

p.V1632L

c.4894G>C

1 paper

NM_001013703.4

p.V1634delFs

c.4901_4902delTG

1 paper

NM_001013703.4

p.V1634fs

c.4900_4901fs

2 papers

NM_001013703.4

p.L1637P

c.4910T>C

1 paper

NM_001013703.4

p.Y1638Y

c.4914C>T

3 papers

NM_001013703.4

p.K1631Splc

c.4892+1G>T

1 paper

NM_001013703.4

p.Y1624C

c.4871A>G

1 paper

NM_001013703.4

p.L1618F

c.4854A>C

1 paper

NM_001013703.4

p.L1618F

c.4854A>T

4 papers

NM_001013703.4

p.Q1613fs

c.4837_4838fs

1 paper

NM_001013703.4

p.K1612insFs

c.4836dupG

1 paper

NM_001013703.4

p.P1611_K1612insFs

c.4833_4834ins4