Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.A52T

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.A52T
c.154G>A
Surrounding Variants
1 paper
NM_004836.7
p.A52S
c.154G>T
1 paper
NM_004836.7
p.A51T
c.151G>A
1 paper
NM_004836.7
p.P53L
c.158C>T
2 papers
NM_004836.7
p.P53R
c.158C>G
1 paper
NM_004836.7
p.A50A
c.150C>G
1 paper
NM_004836.7
p.S55A
c.163T>G
1 paper
NM_004836.7
p.S55*
c.164C>G
1 paper
NM_004836.7
p.S55*
c.164C>A
1 paper
NM_004836.7
p.A56A
c.168G>C
1 paper
NM_004836.7
p.G46fs
c.136_137fs
1 paper
NM_004836.7
p.F45L
c.135C>G
1 paper
NM_004836.7
p.F45L
c.135C>A
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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."