Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.Y126*

EIF2B2

165 papers

RefSeq Summary

This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq...

Pfam Domains

IF-2Baa 27–333UCSCInitiation factor 2 subunit family

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2B subunit beta

HGNC Alias Symbols

EIF-2Bbeta; EIF2Bbeta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014239.4
p.Y126*
c.378T>G
Surrounding Variants
1 paper
NM_014239.4
p.Y126*
c.378T>A
1 paper
NM_014239.4
p.A127G
c.380C>G
7 papers
NM_014239.4
p.A127V
c.380C>T
3 papers
NM_014239.4
p.H125Q
c.375T>A
1 paper
NM_014239.4
p.L129F
c.385C>T
1 paper
NM_014239.4
p.L129H
c.386T>A
1 paper
NM_014239.4
p.Q130*
c.388C>T
1 paper
NM_014239.4
p.S123N
c.368G>A
1 paper
NM_014239.4
p.L112L
c.334C>T
1 paper
NM_014239.4
p.Q105R
c.314A>G
2 papers
NM_014239.4
p.R95Splc
c.284+5G>T
1 paper
NM_014239.4
p.R95Splc
c.284+1G>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."