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.R1091Q

c.3272G>A

Surrounding Variants

1 paper

NM_001013703.4

p.R1091*

c.3271C>T

2 papers

NM_001013703.4

p.Q1082*

c.3244C>T

1 paper

NM_001013703.4

p.G1109R

c.3325G>A

1 paper

NM_001013703.4

p.G1109R

c.3325G>C

1 paper

NM_001013703.4

p.M1110R

c.3329T>G

1 paper

NM_001013703.4

p.P1115H

c.3344C>A

13 papers

NM_001013703.4

p.P1115L

c.3344C>T

1 paper

NM_001013703.4

p.R1119P

c.3356G>C

1 paper

NM_001013703.4

p.G1079Splc

c.3235+24G>A

1 paper

NM_001013703.4

p.R1073H

c.3218G>A

1 paper

NM_001013703.4

p.R1073L

c.3218G>T

2 papers

NM_001013703.4

p.R1073C

c.3217C>T