Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.V318I

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
1 paper
NM_003907.3
p.V318I
c.952G>A
Surrounding Variants
1 paper
NM_003907.3
p.V318D
c.953T>A
3 papers
NM_003907.3
p.Y319C
c.956A>G
8 papers
NM_003907.3
p.R316Q
c.947G>A
13 papers
NM_003907.3
p.R315H
c.944G>A
7 papers
NM_003907.3
p.R315G
c.943C>G
15 papers
NM_003907.3
p.R315C
c.943C>T
1 paper
NM_003907.3
p.T322S
c.965C>G
1 paper
NM_003907.3
p.V313_R316delFs
c.939_948del10
8 papers
NM_003907.3
p.P323S
c.967C>T
1 paper
NM_003907.3
p.P323L
c.968C>T
2 papers
NM_003907.3
p.D312G
c.935A>G
3 papers
NM_003907.3
p.C310F
c.929G>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."