Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.N326_F327del1

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.N326_F327del1
c.977_979delACT
Surrounding Variants
1 paper
NM_003907.3
p.P323L
c.968C>T
8 papers
NM_003907.3
p.P323S
c.967C>T
1 paper
NM_003907.3
p.T322S
c.965C>G
1 paper
NM_003907.3
p.Q333delFs
c.997delC
3 papers
NM_003907.3
p.Y319C
c.956A>G
1 paper
NM_003907.3
p.Q333fs
c.997_998fs
1 paper
NM_003907.3
p.V318D
c.953T>A
1 paper
NM_003907.3
p.S334G
c.1000A>G
1 paper
NM_003907.3
p.V318I
c.952G>A
6 papers
NM_003907.3
p.C335S
c.1003T>A
3 papers
NM_003907.3
p.C335R
c.1003T>C
8 papers
NM_003907.3
p.C335S
c.1004G>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."