Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.N208Y

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
12 papers
NM_001414.4
p.N208Y
c.622A>T
Surrounding Variants
1 paper
NM_001414.4
p.V200_I206del7
c.598_617del21
2 papers
NM_001414.4
p.I206T
c.617T>C
1 paper
NM_001414.4
p.G204del1
c.610_611delTCC
1 paper
NM_001414.4
p.G204_G205delFs
c.610_613del4
1 paper
NM_001414.4
p.G205E
c.614G>A
1 paper
NM_001414.4
p.N203_G204Fs
c.607_612delinsTGFs
1 paper
NM_001414.4
p.N203N
c.609C>T
6 papers
NM_001414.4
p.E198K
c.592G>A
2 papers
NM_001414.4
p.D191N
c.571G>A
1 paper
NM_001414.4
p.G184D
c.551G>A
1 paper
NM_001414.4
p.G184insFs
c.551dupG
1 paper
NM_001414.4
p.G184D
c.551G>A
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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."