Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.S719R

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.S719R
c.2157C>G
Surrounding Variants
1 paper
NM_004836.7
p.S719R
c.2157C>A
1 paper
NM_004836.7
p.R718_S719del1
c.2154_2156delCTT
1 paper
NM_004836.7
p.S719insFs
c.2156_2157insA
1 paper
NM_004836.7
p.S719N
c.2156G>A
1 paper
NM_004836.7
p.S719R
c.2155A>C
1 paper
NM_004836.7
p.S719_R720del1
c.2157_2159delCTG
1 paper
NM_004836.7
p.R718S
c.2154A>T
1 paper
NM_004836.7
p.R718R
c.2154A>G
1 paper
NM_004836.7
p.R718S
c.2154A>C
3 papers
NM_004836.7
p.R718delFs
c.2153delC
1 paper
NM_004836.7
p.R718I
c.2153G>T
1 paper
NM_004836.7
p.S721Y
c.2162C>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."