Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.F197V

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
1 paper
NM_014239.4
p.F197V
c.589T>G
Surrounding Variants
2 papers
NM_014239.4
p.F197L
c.589T>C
2 papers
NM_014239.4
p.F197L
c.591C>A
2 papers
NM_014239.4
p.F197L
c.591C>G
5 papers
NM_014239.4
p.P196S
c.586C>T
1 paper
NM_014239.4
p.Q199Q
c.597G>A
1 paper
NM_014239.4
p.H188Y
c.562C>T
1 paper
NM_014239.4
p.K184fs
c.550_551fs
1 paper
NM_014239.4
p.K184insFs
c.551_552insA
5 papers
NM_014239.4
p.R183fs
c.547_548fs
11 papers
NM_014239.4
p.R183*
c.547C>T
3 papers
NM_014239.4
p.A182V
c.545C>T
1 paper
NM_014239.4
p.V174I
c.520G>A
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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."