Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5

EIF2B5

231 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

W2aa 641–720UCSCeIF4-gamma/eIF5/eIF2-epsilon

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2B subunit epsilon

HGNC Alias Symbols

EIF2Bepsilon; EIF-2B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 309 variants
105 papers
NM_003907.3
p.R113H
c.338G>A
39 papers
NM_003907.3
p.T91A
c.271A>G
38 papers
NM_003907.3
p.R195H
c.584G>A
24 papers
NM_003907.3
p.R299H
c.896G>A
20 papers
NM_003907.3
p.R269Q
c.806G>A
20 papers
NM_003907.3
p.G386V
c.1157G>T
16 papers
NM_003907.3
p.V73G
c.218T>G
16 papers
NM_003907.3
p.R269*
c.805C>T
15 papers
NM_003907.3
p.L106F
c.318A>C
15 papers
NM_003907.3
p.L106F
c.318A>T
15 papers
NM_003907.3
p.R195C
c.583C>T
15 papers
NM_003907.3
p.R315C
c.943C>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."