Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.Q495_V498del4

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.Q495_V498del4
c.1483_1493del12
Surrounding Variants
1 paper
NM_004836.7
p.R499S
c.1497A>T
1 paper
NM_004836.7
p.R499S
c.1497A>C
1 paper
NM_004836.7
p.V498I
c.1492G>A
1 paper
NM_004836.7
p.L501P
c.1502T>C
1 paper
NM_004836.7
p.I496I
c.1488T>A
1 paper
NM_004836.7
p.L501L
c.1503C>T
4 papers
NM_004836.7
p.D502N
c.1504G>A
2 papers
NM_004836.7
p.R492_Q495del4
c.1474_1484del12
1 paper
NM_004836.7
p.Q495K
c.1483C>A
1 paper
NM_004836.7
p.T494T
c.1482A>G
1 paper
NM_004836.7
p.N503ins2
c.1508_1509ins6
1 paper
NM_004836.7
p.T494I
c.1481C>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."