Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.V59I

EIF2AK3

596 papers

RefSeq Summary

The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation ...

Pfam Domains

Pkinaseaa 593–676UCSCProtein kinase domain
Pkinaseaa 864–1077UCSCProtein kinase domain

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2 alpha kinase 3

HGNC Alias Symbols

PEK; PERK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004836.7
p.V59I
c.175G>A
Surrounding Variants
6 papers
NM_004836.7
p.V59G
c.176T>G
1 paper
NM_004836.7
p.V59A
c.176T>C
1 paper
NM_004836.7
p.R58R
c.174A>G
1 paper
NM_004836.7
p.P53_R58del0
c.159_173del15
1 paper
NM_004836.7
p.A56A
c.168G>C
1 paper
NM_004836.7
p.S55*
c.164C>G
1 paper
NM_004836.7
p.S55*
c.164C>A
1 paper
NM_004836.7
p.S55A
c.163T>G
1 paper
NM_004836.7
p.R58_A62del0
c.172_186del15
1 paper
NM_004836.7
p.G63D
c.188G>A
1 paper
NM_004836.7
p.P53L
c.158C>T
2 papers
NM_004836.7
p.P53R
c.158C>G
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