Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.G386V

EIF2B5

231 papers

RefSeq Summary

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis...

Pfam Domains

W2aa 641–720UCSCeIF4-gamma/eIF5/eIF2-epsilon

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2B subunit epsilon

HGNC Alias Symbols

EIF2Bepsilon; EIF-2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
20 papers
NM_003907.3
p.G386V
c.1157G>T
Surrounding Variants
2 papers
NM_003907.3
p.G386D
c.1157G>A
1 paper
NM_003907.3
p.I385T
c.1154T>C
10 papers
NM_003907.3
p.I385V
c.1153A>G
5 papers
NM_003907.3
p.G386Splc
c.1156+13G>A
1 paper
NM_003907.3
p.I379F
c.1135A>T
8 papers
NM_003907.3
p.N376D
c.1126A>G
1 paper
NM_003907.3
p.S370R
c.1110C>A
1 paper
NM_003907.3
p.S370R
c.1110C>G
1 paper
NM_003907.3
p.S370R
c.1108A>C
2 papers
NM_003907.3
p.G369V
c.1106G>T
2 papers
NM_003907.3
p.G363S
c.1087G>A
1 paper
NM_003907.3
p.E357Q
c.1069G>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."