Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.F743L

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.F743L
c.2229C>G
Surrounding Variants
1 paper
NM_004836.7
p.F743L
c.2229C>A
1 paper
NM_004836.7
p.F743L
c.2227T>C
1 paper
NM_004836.7
p.E742E
c.2226A>G
1 paper
NM_004836.7
p.E742A
c.2225A>C
1 paper
NM_004836.7
p.M746T
c.2237T>C
1 paper
NM_004836.7
p.L741L
c.2221C>T
1 paper
NM_004836.7
p.D747_H748insAG
c.2239_2243ins6
1 paper
NM_004836.7
p.D747H
c.2239G>C
1 paper
NM_004836.7
p.D747G
c.2240A>G
1 paper
NM_004836.7
p.E749E
c.2247G>A
1 paper
NM_004836.7
p.Q737Q
c.2211G>A
1 paper
NM_004836.7
p.I751T
c.2252T>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."