Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.M390T

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.M390T
c.1169T>C
Surrounding Variants
1 paper
NM_004836.7
p.M390L
c.1168A>T
1 paper
NM_004836.7
p.M390L
c.1168A>C
1 paper
NM_004836.7
p.Y391H
c.1171T>C
1 paper
NM_004836.7
p.Y391Y
c.1173T>C
2 papers
NM_004836.7
p.G389R
c.1165G>C
2 papers
NM_004836.7
p.G389R
c.1165G>A
1 paper
NM_004836.7
p.G389Splc
c.1166-5T>C
1 paper
NM_004836.7
p.G389Splc
c.1166-7G>C
1 paper
NM_004836.7
p.G389Splc
c.1166-8T>C
1 paper
NM_004836.7
p.Q394Q
c.1182G>A
1 paper
NM_004836.7
p.G389Splc
c.1166-13C>G
1 paper
NM_004836.7
p.Y396C
c.1187A>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."