Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.M888I

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.M888I
c.2664G>A
Surrounding Variants
1 paper
NM_004836.7
p.M888I
c.2664G>T
1 paper
NM_004836.7
p.M888I
c.2664G>C
1 paper
NM_004836.7
p.Q887Q
c.2661A>G
1 paper
NM_004836.7
p.C891C
c.2673C>T
1 paper
NM_004836.7
p.Y883C
c.2648A>G
1 paper
NM_004836.7
p.V882L
c.2644G>T
1 paper
NM_004836.7
p.V882L
c.2644G>C
1 paper
NM_004836.7
p.K881K
c.2643G>A
1 paper
NM_004836.7
p.N895N
c.2685C>T
1 paper
NM_004836.7
p.L896V
c.2686C>G
1 paper
NM_004836.7
p.K897E
c.2689A>G
1 paper
NM_004836.7
p.S879P
c.2635T>C
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