Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.V72L

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.V72L
c.214G>C
Surrounding Variants
1 paper
NM_004836.7
p.V72L
c.214G>T
1 paper
NM_004836.7
p.V72M
c.214G>A
1 paper
NM_004836.7
p.E73D
c.219G>T
3 papers
NM_004836.7
p.E69*
c.205G>T
1 paper
NM_004836.7
p.A67V
c.200C>T
3 papers
NM_004836.7
p.A67T
c.199G>A
2 papers
NM_004836.7
p.L78P
c.233T>C
1 paper
NM_004836.7
p.V65E
c.194T>A
1 paper
NM_004836.7
p.P79L
c.236C>T
1 paper
NM_004836.7
p.A64A
c.192C>A
4 papers
NM_004836.7
p.A61_G63del3
c.181_188del9
1 paper
NM_004836.7
p.G63D
c.188G>A
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