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

7 papers

NM_001013703.4

p.V385insFs

c.1153dupG

Surrounding Variants

1 paper

NM_001013703.4

p.S383fs

c.1147_1148fs

2 papers

NM_001013703.4

p.V385fs

c.1153_1154fs

1 paper

NM_001013703.4

p.V385fs

c.1153_1154fs

1 paper

NM_001013703.4

p.H381Y

c.1141C>T

1 paper

NM_001013703.4

p.D371N

c.1111G>A

1 paper

NM_001013703.4

p.D370N

c.1108G>A

1 paper

NM_001013703.4

p.I397I

c.1191C>T

1 paper

NM_001013703.4

p.R403R

c.1209C>A

1 paper

NM_001013703.4

p.R403R

c.1209C>G

1 paper

NM_001013703.4

p.A363P

c.1087G>C

1 paper

NM_001013703.4

p.R360C

c.1078C>T

1 paper

NM_001013703.4

p.A407V

c.1220C>T