Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.K430E

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.K430E
c.1288A>G
Surrounding Variants
1 paper
NM_004836.7
p.W431G
c.1291T>G
1 paper
NM_004836.7
p.W431*
c.1292G>A
2 papers
NM_004836.7
p.W431*
c.1293G>A
1 paper
NM_004836.7
p.T428K
c.1283C>A
2 papers
NM_004836.7
p.T428A
c.1282A>G
1 paper
NM_004836.7
p.K432R
c.1295A>G
1 paper
NM_004836.7
p.P427L
c.1280C>T
1 paper
NM_004836.7
p.P425R
c.1274C>G
1 paper
NM_004836.7
p.H436Y
c.1306C>T
1 paper
NM_004836.7
p.H436Splc
c.1306+1G>C
1 paper
NM_004836.7
p.H436Splc
c.1306+1G>A
1 paper
NM_004836.7
p.I423insFs
c.1267dupA
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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."