Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B4

EIF2B4

112 papers

RefSeq Summary

Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delt...

Pfam Domains

IF-2Baa 239–530UCSCInitiation factor 2 subunit family

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2B subunit delta

HGNC Alias Symbols

EIF2Bdelta; EIF-2B; DKFZP586J0119

Papers
RefSeq ID
Protein change
DNA change
1–12 of 119 variants
12 papers
NM_001034116.2
p.R374C
c.1120C>T
11 papers
NM_001034116.2
p.R209Q
c.626G>A
11 papers
NM_001034116.2
p.P243L
c.728C>T
9 papers
NM_001034116.2
p.Y489H
c.1465T>C
8 papers
NM_001034116.2
p.R357Q
c.1070G>A
8 papers
NM_001034116.2
p.C465R
c.1393T>C
7 papers
NM_001034116.2
p.R483W
c.1447C>T
6 papers
NM_001034116.2
p.R357W
c.1069C>T
6 papers
NM_001034116.2
p.R364Q
c.1091G>A
6 papers
NM_001034116.2
p.A391D
c.1172C>A
5 papers
NM_001034116.2
p.R467W
c.1399C>T
4 papers
NM_001034116.2
p.R209*
c.625C>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."