Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.R113H

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
Selected Variant
105 papers
NM_003907.3
p.R113H
c.338G>A
Surrounding Variants
3 papers
NM_003907.3
p.R113S
c.337C>A
12 papers
NM_003907.3
p.R113C
c.337C>T
1 paper
NM_003907.3
p.T115A
c.343A>G
1 paper
NM_003907.3
p.S116_S130del15
c.346_389del45
4 papers
NM_003907.3
p.W111R
c.331T>A
4 papers
NM_003907.3
p.W111R
c.331T>C
1 paper
NM_003907.3
p.K110K
c.330G>A
2 papers
NM_003907.3
p.R121Q
c.362G>A
6 papers
NM_003907.3
p.L127P
c.380T>C
2 papers
NM_003907.3
p.Y128C
c.383A>G
2 papers
NM_003907.3
p.R129*
c.385C>T
1 paper
NM_003907.3
p.S130L
c.389C>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."