Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.F72L

EIF2B1

82 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

IF-2Baa 15–293UCSCInitiation factor 2 subunit family

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2B subunit alpha

HGNC Alias Symbols

EIF-2Balpha; EIF-2B; EIF2BA; EIF2Balpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001414.4
p.F72L
c.216C>G
Surrounding Variants
1 paper
NM_001414.4
p.F72L
c.216C>A
3 papers
NM_001414.4
p.L73R
c.218T>G
1 paper
NM_001414.4
p.F72L
c.214T>C
1 paper
NM_001414.4
p.F75S
c.224T>C
1 paper
NM_001414.4
p.S67_G69delFs
c.200_206del7
1 paper
NM_001414.4
p.S77N
c.230G>A
3 papers
NM_001414.4
p.A79V
c.236C>T
1 paper
NM_001414.4
p.D60_V63del0
c.179_187del9
1 paper
NM_001414.4
p.Y83delFs
c.247delA
1 paper
NM_001414.4
p.S84F
c.251C>T
1 paper
NM_001414.4
p.S84S
c.252C>T
1 paper
NM_001414.4
p.D60H
c.178G>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."