Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.D154A

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
1 paper
NM_003907.3
p.D154A
c.461A>C
Surrounding Variants
1 paper
NM_003907.3
p.D154N
c.460G>A
1 paper
NM_003907.3
p.G153R
c.457G>A
1 paper
NM_003907.3
p.G153R
c.457G>C
4 papers
NM_003907.3
p.I156M
c.468C>G
1 paper
NM_003907.3
p.Y152fs
c.454_455fs
1 paper
NM_003907.3
p.V151A
c.452T>C
2 papers
NM_003907.3
p.V151_Y152delFs
c.453_454delGT
4 papers
NM_003907.3
p.L150R
c.449T>G
2 papers
NM_003907.3
p.I159V
c.475A>G
1 paper
NM_003907.3
p.S146F
c.437C>T
1 paper
NM_003907.3
p.S146P
c.436T>C
2 papers
NM_003907.3
p.V144L
c.430G>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."