Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.Y275C

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
7 papers
NM_001414.4
p.Y275C
c.824A>G
Surrounding Variants
5 papers
NM_001414.4
p.P278R
c.833C>G
1 paper
NM_001414.4
p.H270Y
c.808C>T
1 paper
NM_001414.4
p.E268*
c.802G>T
1 paper
NM_001414.4
p.Q264Fs
c.792delinsACAFs
1 paper
NM_001414.4
p.L288P
c.863T>C
2 papers
NM_001414.4
p.V290M
c.868G>A
1 paper
NM_001414.4
p.A260T
c.778G>A
2 papers
NM_001414.4
p.L291L
c.871C>T
1 paper
NM_001414.4
p.P293S
c.877C>T
1 paper
NM_001414.4
p.P293L
c.878C>T
1 paper
NM_001414.4
p.P293del1
c.877_879delGGG
1 paper
NM_001414.4
p.T256fs
c.766_767fs
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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."