Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.I921I

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.I921I
c.2763C>T
Surrounding Variants
1 paper
NM_004836.7
p.A922S
c.2764G>T
1 paper
NM_004836.7
p.A922T
c.2764G>A
1 paper
NM_004836.7
p.A922V
c.2765C>T
1 paper
NM_004836.7
p.A922A
c.2766A>G
1 paper
NM_004836.7
p.Q920*
c.2758C>T
1 paper
NM_004836.7
p.E923E
c.2769G>A
1 paper
NM_004836.7
p.L919L
c.2757G>A
1 paper
NM_004836.7
p.L919L
c.2755C>T
1 paper
NM_004836.7
p.F918F
c.2754C>T
1 paper
NM_004836.7
p.A924A
c.2772A>C
1 paper
NM_004836.7
p.E926K
c.2776G>A
1 paper
NM_004836.7
p.I917F
c.2749A>T
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