Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.K553E

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.K553E
c.1657A>G
Surrounding Variants
1 paper
NM_004836.7
p.R552R
c.1656G>A
2 papers
NM_004836.7
p.Q551Q
c.1653A>G
1 paper
NM_004836.7
p.R550_Q551Splc
c.1651-4T>G
1 paper
NM_004836.7
p.R550_Q551Splc
c.1651-4T>C
1 paper
NM_004836.7
p.Q558E
c.1672C>G
1 paper
NM_004836.7
p.R550_Q551Splc
c.1651-11C>T
1 paper
NM_004836.7
p.T561S
c.1681A>T
1 paper
NM_004836.7
p.T561I
c.1682C>T
1 paper
NM_004836.7
p.T561S
c.1682C>G
1 paper
NM_004836.7
p.R550_Q551Splc
c.1651-21T>A
1 paper
NM_004836.7
p.R550_Q551Splc
c.1651-23G>A
1 paper
NM_004836.7
p.N563D
c.1687A>G
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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."