Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B4
Variant:p.P244L

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
Selected Variant
1 paper
NM_001034116.2
p.P244L
c.731C>T
Surrounding Variants
1 paper
NM_001034116.2
p.P243P
c.729G>A
12 papers
NM_001034116.2
p.P243L
c.728C>T
NM_015636.4
p.P242L
c.725C>T
2 papers
NM_001034116.2
p.T242I
c.725C>T
1 paper
NM_172195.4
p.N274Y
c.820A>T
1 paper
NM_001034116.2
p.L256V
c.766C>G
1 paper
NM_001034116.2
p.L233F
c.699G>C
1 paper
NM_001034116.2
p.A232T
c.694G>A
1 paper
NM_015636.4
p.L229L
c.687T>G
4 papers
NM_001034116.2
p.A228V
c.683C>T
1 paper
NM_001034116.2
p.R225Q
c.674G>A
2 papers
NM_001034116.2
p.L269L
c.805C>T
1 paper
NM_001034116.2
p.L269V
c.805C>G
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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."