Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.A204Fs

EIF2B2

165 papers

RefSeq Summary

This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq...

Pfam Domains

IF-2Baa 27–333UCSCInitiation factor 2 subunit family

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2B subunit beta

HGNC Alias Symbols

EIF-2Bbeta; EIF2Bbeta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_014239.4
p.A204Fs
c.612delinsTGFs
Surrounding Variants
12 papers
NM_014239.4
p.M203fs
c.607_608fs
1 paper
NM_014239.4
p.A204_V205delFs
c.610_613del4
2 papers
NM_014239.4
p.M203_A204Fs
c.607_612delinsTGFs
2 papers
NM_014239.4
p.M203_S208Fs
c.607_622delinsTGFs
2 papers
NM_014239.4
p.E202fs
c.604_605fs
1 paper
NM_014239.4
p.E202delFs
c.605delA
4 papers
NM_014239.4
p.G200A
c.599G>C
25 papers
NM_014239.4
p.G200V
c.599G>T
1 paper
NM_014239.4
p.A210S
c.628G>T
1 paper
NM_014239.4
p.E213A
c.638A>C
41 papers
NM_014239.4
p.E213G
c.638A>G
2 papers
NM_014239.4
p.T218I
c.653C>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."