Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.M305L

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
11 papers
NM_003907.3
p.M305L
c.913A>T
Surrounding Variants
8 papers
NM_003907.3
p.M305L
c.913A>C
1 paper
NM_003907.3
p.M305K
c.914T>A
2 papers
NM_003907.3
p.H304P
c.911A>C
1 paper
NM_003907.3
p.H304R
c.911A>G
3 papers
NM_003907.3
p.M305I
c.915G>A
3 papers
NM_003907.3
p.M305I
c.915G>C
3 papers
NM_003907.3
p.M305I
c.915G>T
1 paper
NM_003907.3
p.A308T
c.922G>A
13 papers
NM_003907.3
p.V309L
c.925G>C
3 papers
NM_003907.3
p.C310F
c.929G>T
24 papers
NM_003907.3
p.R299H
c.896G>A
2 papers
NM_003907.3
p.D312G
c.935A>G
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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."