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.K634R

c.1901A>G

Surrounding Variants

1 paper

NM_001013703.4

p.L640_R642del3

c.1918_1925del9

1 paper

NM_001013703.4

p.R642G

c.1924C>G

4 papers

NM_001013703.4

p.L643R

c.1928T>G

1 paper

NM_001013703.4

p.P622S

c.1864C>T

1 paper

NM_001013703.4

p.I648F

c.1942A>T

4 papers

NM_001013703.4

p.K619R

c.1856A>G

1 paper

NM_001013703.4

p.A617P

c.1849G>C

1 paper

NM_001013703.4

p.L611S

c.1832T>C

1 paper

NM_001013703.4

p.K610R

c.1829A>G

1 paper

NM_001013703.4

p.V607G

c.1820T>G

1 paper

NM_001013703.4

p.K606_V607Splc

c.1819-16C>G

2 papers

NM_001013703.4

p.P674S

c.2020C>T