Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.G39Splc

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.G39Splc
c.115+1G>A
Surrounding Variants
1 paper
NM_001414.4
p.R36_D37ins5
c.106_110ins15
1 paper
NM_001414.4
p.L34F
c.102G>T
1 paper
NM_001414.4
p.L34F
c.102G>C
1 paper
NM_001414.4
p.L34W
c.101T>G
1 paper
NM_001414.4
p.E32A
c.95A>C
1 paper
NM_001414.4
p.L30S
c.89T>C
1 paper
NM_001414.4
p.T29K
c.86C>A
1 paper
NM_001414.4
p.I27N
c.80T>A
1 paper
NM_001414.4
p.S22L
c.65C>T
1 paper
NM_001414.4
p.M14T
c.41T>C
1 paper
NM_001414.4
p.Q13fs
c.37_38fs
1 paper
NM_001414.4
p.S12_Q13insFs
c.36_37ins5
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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."