Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.R269Q

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
20 papers
NM_003907.3
p.R269Q
c.806G>A
Surrounding Variants
1 paper
NM_003907.3
p.R269P
c.806G>C
8 papers
NM_003907.3
p.R269L
c.806G>T
3 papers
NM_003907.3
p.R269G
c.805C>G
16 papers
NM_003907.3
p.R269*
c.805C>T
6 papers
NM_003907.3
p.D270H
c.808G>C
1 paper
NM_003907.3
p.T268I
c.803C>T
1 paper
NM_003907.3
p.Q267*
c.799C>T
1 paper
NM_003907.3
p.F264L
c.792T>A
2 papers
NM_003907.3
p.F264Fs
c.792delinsACAFs
1 paper
NM_003907.3
p.F264L
c.792T>G
1 paper
NM_003907.3
p.R274Q
c.821G>A
1 paper
NM_003907.3
p.F264L
c.790T>C
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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."