Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.R698L

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.R698L
c.2093G>T
Surrounding Variants
1 paper
NM_004836.7
p.R698H
c.2093G>A
1 paper
NM_004836.7
p.R698C
c.2092C>T
1 paper
NM_004836.7
p.I697insFs
c.2091dupA
2 papers
NM_004836.7
p.R698S
c.2092C>A
1 paper
NM_004836.7
p.M700V
c.2098A>G
1 paper
NM_004836.7
p.M700T
c.2099T>C
1 paper
NM_004836.7
p.M700K
c.2099T>A
1 paper
NM_004836.7
p.V695I
c.2083G>A
1 paper
NM_004836.7
p.P702A
c.2104C>G
2 papers
NM_004836.7
p.S694*
c.2081C>G
2 papers
NM_004836.7
p.S694*
c.2081C>A
1 paper
NM_004836.7
p.P702P
c.2106T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."