Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.H128H

EIF2B1

82 papers

RefSeq Summary

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis...

Pfam Domains

IF-2Baa 15–293UCSCInitiation factor 2 subunit family

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2B subunit alpha

HGNC Alias Symbols

EIF-2Balpha; EIF-2B; EIF2BA; EIF2Balpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001414.4
p.H128H
c.384C>T
Surrounding Variants
2 papers
NM_001414.4
p.R132T
c.395G>C
1 paper
NM_001414.4
p.R136K
c.407G>A
1 paper
NM_001414.4
p.A143V
c.428C>T
1 paper
NM_001414.4
p.A143A
c.429G>A
3 papers
NM_001414.4
p.R147*
c.439C>T
1 paper
NM_001414.4
p.S149T
c.446G>C
2 papers
NM_001414.4
p.V150G
c.449T>G
1 paper
NM_001414.4
p.Y151_V152delFs
c.453_454delCG
1 paper
NM_001414.4
p.D158H
c.472G>C
1 paper
NM_001414.4
p.G161Splc
c.482+1G>T
1 paper
NM_001414.4
p.G161Splc
c.482+2C>A
1 paper
NM_001414.4
p.G161Splc
c.483-24A>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."