Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.R541C

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.R541C
c.1621C>T
Surrounding Variants
1 paper
NM_004836.7
p.R541H
c.1622G>A
1 paper
NM_004836.7
p.R542G
c.1624A>G
2 papers
NM_004836.7
p.L543F
c.1627C>T
1 paper
NM_004836.7
p.I539F
c.1615A>T
1 paper
NM_004836.7
p.L543fs
c.1627_1628fs
1 paper
NM_004836.7
p.T537del1
c.1609_1610delCGT
1 paper
NM_004836.7
p.T537T
c.1611G>A
1 paper
NM_004836.7
p.T536_T537del1
c.1608_1610delGTT
2 papers
NM_004836.7
p.T537M
c.1610C>T
1 paper
NM_004836.7
p.T537K
c.1610C>A
1 paper
NM_004836.7
p.T536T
c.1608A>G
3 papers
NM_004836.7
p.P546P
c.1638T>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."