Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.Q762H

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
3 papers
NM_004836.7
p.Q762H
c.2286G>C
Surrounding Variants
3 papers
NM_004836.7
p.Q762H
c.2286G>T
1 paper
NM_004836.7
p.Q762Q
c.2286G>A
1 paper
NM_004836.7
p.S764R
c.2290A>C
1 paper
NM_004836.7
p.S764N
c.2291G>A
1 paper
NM_004836.7
p.L761F
c.2281C>T
1 paper
NM_004836.7
p.S764R
c.2292T>G
1 paper
NM_004836.7
p.S764R
c.2292T>A
1 paper
NM_004836.7
p.C765S
c.2293T>A
1 paper
NM_004836.7
p.C765S
c.2294G>C
1 paper
NM_004836.7
p.L766F
c.2296C>T
1 paper
NM_004836.7
p.A758P
c.2272G>C
1 paper
NM_004836.7
p.T767R
c.2300C>G
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