Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.M1insFs

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
2 papers
NM_004836.7
p.M1insFs
c.2dupT
Surrounding Variants
1 paper
NM_004836.7
p.M1I
c.3G>T
1 paper
NM_004836.7
p.M1I
c.3G>A
1 paper
NM_004836.7
p.M1L
c.1A>T
4 papers
NM_004836.7
p.M1V
c.1A>G
1 paper
NM_004836.7
p.M1L
c.1A>C
1 paper
NM_004836.7
p.R3H
c.8G>A
1 paper
NM_004836.7
p.A4V
c.11C>T
1 paper
NM_004836.7
p.I5fs
c.13_14fs
1 paper
NM_004836.7
p.A4delFs
c.12delG
1 paper
NM_004836.7
p.S6ins1
c.16_17insAAT
4 papers
NM_004836.7
p.P7delFs
c.21delC
1 paper
NM_004836.7
p.L9P
c.26T>C
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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."