Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.E37*

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.E37*
c.109G>T
Surrounding Variants
1 paper
NM_014239.4
p.E32A
c.95A>C
3 papers
NM_014239.4
p.S31T
c.91T>A
1 paper
NM_014239.4
p.G26S
c.76G>A
2 papers
NM_014239.4
p.G26R
c.76G>C
1 paper
NM_014239.4
p.E20delFs
c.60delG
1 paper
NM_014239.4
p.F18delFs
c.54delC
1 paper
NM_014239.4
p.S12L
c.35C>T
1 paper
NM_014239.4
p.L11S
c.32T>C
4 papers
NM_014239.4
p.M1I
c.3G>A
3 papers
NM_014239.4
p.M1I
c.3G>C
4 papers
NM_014239.4
p.M1I
c.3G>T
1 paper
NM_014239.4
p.M1insFs
c.1_2insT
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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."