Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.N563D

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.N563D
c.1687A>G
Surrounding Variants
1 paper
NM_004836.7
p.N563T
c.1688A>C
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.Y565H
c.1693T>C
1 paper
NM_004836.7
p.T561S
c.1681A>T
1 paper
NM_004836.7
p.Y565C
c.1694A>G
3 papers
NM_004836.7
p.Y565*
c.1695T>G
1 paper
NM_004836.7
p.Y565Y
c.1695T>C
3 papers
NM_004836.7
p.Y565*
c.1695T>A
1 paper
NM_004836.7
p.D566N
c.1696G>A
2 papers
NM_004836.7
p.Y565delFs
c.1694_1695delAT
7 papers
NM_004836.7
p.D566V
c.1697A>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."