Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.D756_D770del15

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.D756_D770del15
c.2266_2309del45
Surrounding Variants
1 paper
NM_004836.7
p.E772V
c.2315A>T
1 paper
NM_004836.7
p.D770H
c.2308G>C
1 paper
NM_004836.7
p.C769*
c.2307T>A
3 papers
NM_004836.7
p.D768_C769delFs
c.2304_2305delAG
1 paper
NM_004836.7
p.T767R
c.2300C>G
1 paper
NM_004836.7
p.T767K
c.2300C>A
1 paper
NM_004836.7
p.M776K
c.2327T>A
1 paper
NM_004836.7
p.M776I
c.2328G>T
1 paper
NM_004836.7
p.M776I
c.2328G>C
1 paper
NM_004836.7
p.M776I
c.2328G>A
1 paper
NM_004836.7
p.L766F
c.2296C>T
1 paper
NM_004836.7
p.D777Y
c.2329G>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."