Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.H549D

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.H549D
c.1645C>G
Surrounding Variants
1 paper
NM_004836.7
p.H549Y
c.1645C>T
1 paper
NM_004836.7
p.P548L
c.1643C>T
1 paper
NM_004836.7
p.H547Q
c.1641T>G
1 paper
NM_004836.7
p.H547Q
c.1641T>A
1 paper
NM_004836.7
p.R550K
c.1649G>A
1 paper
NM_004836.7
p.R550S
c.1650G>T
1 paper
NM_004836.7
p.R550S
c.1650G>C
1 paper
NM_004836.7
p.R550_Q551Splc
c.1650+1G>C
1 paper
NM_004836.7
p.R550_Q551Splc
c.1650+1G>A
1 paper
NM_004836.7
p.H547Y
c.1639C>T
1 paper
NM_004836.7
p.H545_P546delFs
c.1635_1638del4
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."