Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.A204V

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
2 papers
NM_003907.3
p.A204V
c.611C>T
Surrounding Variants
3 papers
NM_003907.3
p.A204_V205delFs
c.610_613del4
2 papers
NM_003907.3
p.V203_A204Fs
c.607_612delinsTGFs
2 papers
NM_003907.3
p.T208S
c.622A>T
1 paper
NM_003907.3
p.N200_D206del7
c.598_617del21
8 papers
NM_003907.3
p.E198K
c.592G>A
1 paper
NM_003907.3
p.R211G
c.631A>G
1 paper
NM_003907.3
p.H197H
c.591C>T
2 papers
NM_003907.3
p.R211S
c.633G>C
2 papers
NM_003907.3
p.R211S
c.633G>T
1 paper
NM_003907.3
p.V212D
c.635T>A
38 papers
NM_003907.3
p.R195H
c.584G>A
15 papers
NM_003907.3
p.R195C
c.583C>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."