Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.K110E

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
3 papers
NM_001414.4
p.K110E
c.328A>G
Surrounding Variants
1 paper
NM_001414.4
p.R108_N109del1
c.323_325delTTC
1 paper
NM_001414.4
p.R108G
c.322A>G
2 papers
NM_001414.4
p.A123A
c.369G>A
1 paper
NM_001414.4
p.Y86_I94delFs
c.256_281del26
1 paper
NM_001414.4
p.I94T
c.281T>C
1 paper
NM_001414.4
p.M93I
c.279G>T
1 paper
NM_001414.4
p.M93I
c.279G>C
1 paper
NM_001414.4
p.M93I
c.279G>A
1 paper
NM_001414.4
p.I92T
c.275T>C
5 papers
NM_001414.4
p.K91E
c.271A>G
2 papers
NM_001414.4
p.S87F
c.260C>T
1 paper
NM_001414.4
p.S84S
c.252C>T
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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."