Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.E304*

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.E304*
c.910G>T
Surrounding Variants
1 paper
NM_014239.4
p.E304Q
c.910G>C
1 paper
NM_014239.4
p.E304_K305del1
c.911_913delAGA
1 paper
NM_014239.4
p.K305*
c.913A>T
1 paper
NM_014239.4
p.K305K
c.915G>A
12 papers
NM_014239.4
p.V308M
c.922G>A
1 paper
NM_014239.4
p.F313_V316delFs
c.939_948del10
1 paper
NM_014239.4
p.D314E
c.942C>A
1 paper
NM_014239.4
p.D314E
c.942C>G
8 papers
NM_014239.4
p.V316D
c.947T>A
1 paper
NM_014239.4
p.P317S
c.949C>T
1 paper
NM_014239.4
p.T322S
c.965C>G
1 paper
NM_014239.4
p.S326P
c.976T>C
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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."