Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.L517I

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.L517I
c.1549C>A
Surrounding Variants
1 paper
NM_004836.7
p.V516L
c.1546G>C
1 paper
NM_004836.7
p.L519V
c.1555T>G
1 paper
NM_004836.7
p.D514V
c.1541A>T
1 paper
NM_004836.7
p.K513K
c.1539G>A
1 paper
NM_004836.7
p.K513delFs
c.1538delT
8 papers
NM_004836.7
p.W521*
c.1562G>A
8 papers
NM_004836.7
p.W521*
c.1563G>A
2 papers
NM_004836.7
p.P515_H520delFs
c.1544_1559del16
13 papers
NM_004836.7
p.W522*
c.1565G>A
1 paper
NM_004836.7
p.R511R
c.1533C>T
13 papers
NM_004836.7
p.W522*
c.1566G>A
1 paper
NM_004836.7
p.R511H
c.1532G>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."