Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3

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
1–12 of 1430 variants
18 papers
NM_004836.7
p.S136C
c.407C>G
15 papers
NM_004836.7
p.Q166R
c.497A>G
13 papers
NM_004836.7
p.W522*
c.1565G>A
13 papers
NM_004836.7
p.W522*
c.1566G>A
13 papers
NM_004836.7
p.A704S
c.2110G>T
9 papers
NM_004836.7
p.E524_I525delFs
c.1570_1573del4
8 papers
NM_004836.7
p.E420delFs
c.1259delT
8 papers
NM_004836.7
p.W521*
c.1562G>A
8 papers
NM_004836.7
p.W521*
c.1563G>A
8 papers
NM_004836.7
p.R903*
c.2707C>T
7 papers
NM_004836.7
p.L21del1
c.61_62delCAG
7 papers
NM_004836.7
p.D566V
c.1697A>T
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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."