Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.N213S

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
4 papers
NM_001414.4
p.N213S
c.638A>G
Surrounding Variants
1 paper
NM_001414.4
p.Q214R
c.641A>G
1 paper
NM_001414.4
p.I210M
c.630T>G
1 paper
NM_001414.4
p.C218F
c.653G>T
1 paper
NM_001414.4
p.A219D
c.656C>A
1 paper
NM_001414.4
p.Q222_K224delFs
c.665_671del7
1 paper
NM_001414.4
p.V229V
c.687T>G
1 paper
NM_001414.4
p.E231K
c.691G>A
1 paper
NM_001414.4
p.L238H
c.713T>A
3 papers
NM_001414.4
p.F239V
c.715T>G
1 paper
NM_001414.4
p.P240S
c.718C>T
1 paper
NM_001414.4
p.L241R
c.722T>G
1 paper
NM_001414.4
p.D245Y
c.733G>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."