Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.Q166R

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
15 papers
NM_004836.7
p.Q166R
c.497A>G
Surrounding Variants
1 paper
NM_004836.7
p.Q166delins
c.496_497delinsTG
1 paper
NM_004836.7
p.Q166*
c.496C>T
2 papers
NM_004836.7
p.W164_D165delFs
c.492_495del4
2 papers
NM_004836.7
p.D165_Q166delFs
c.495_498del4
1 paper
NM_004836.7
p.D165fs
c.493_494fs
3 papers
NM_004836.7
p.W164*
c.492G>A
4 papers
NM_004836.7
p.W164*
c.491G>A
1 paper
NM_004836.7
p.W164R
c.490T>C
1 paper
NM_004836.7
p.W164R
c.490T>A
3 papers
NM_004836.7
p.G159delFs
c.475delC
1 paper
NM_004836.7
p.G159_T173del15
c.475_518del45
1 paper
NM_004836.7
p.D158V
c.473A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."