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.E1296Q

c.3886G>C

Surrounding Variants

1 paper

NM_001013703.4

p.L1295R

c.3884T>G

1 paper

NM_001013703.4

p.K1289T

c.3866A>C

7 papers

NM_001013703.4

p.G1306C

c.3916G>T

3 papers

NM_001013703.4

p.Q1268*

c.3802C>T

7 papers

NM_001013703.4

p.R1256*

c.3766C>T

2 papers

NM_001013703.4

p.K1336R

c.4007A>G

1 paper

NM_001013703.4

p.G1349R

c.4045G>A

1 paper

NM_001013703.4

p.G1349R

c.4045G>C

1 paper

NM_001013703.4

p.G1349E

c.4046G>A

1 paper

NM_001013703.4

p.Y1352Y

c.4056T>C

2 papers

NM_001013703.4

p.L1355_I1356Splc

c.4065+1G>C

1 paper

NM_001013703.4

p.L1355_I1356Splc

c.4065+261A>T