Varaico: Literature-Extracted Genetic Variants

Gene:EMG1
Variant:p.A34T

EMG1

42 papers

RefSeq Summary

This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for...

Pfam Domains

EMG1aa 45–238UCSCEMG1/NEP1 methyltransferase

Gene Aliases

HGNC Name

EMG1 N1-specific pseudouridine methyltransferase

HGNC Alias Symbols

C2F; NEP1; Grcc2f

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006331.8
p.A34T
c.100G>A
Surrounding Variants
1 paper
NM_006331.8
p.A34G
c.101C>G
1 paper
NM_006331.8
p.L32L
c.96A>G
2 papers
NM_006331.8
p.R42insFs
c.124_125insG
1 paper
NM_006331.8
p.R42S
c.126G>C
1 paper
NM_006331.8
p.R42S
c.126G>T
1 paper
NM_006331.8
p.A19S
c.55G>T
1 paper
NM_006331.8
p.E12V
c.35A>T
1 paper
NM_006331.8
p.R11C
c.31C>T
1 paper
NM_006331.8
p.A3A
c.9G>A
1 paper
NM_006331.8
p.R84Q
c.251G>A
13 papers
NM_006331.8
p.D86G
c.257A>G
2 papers
NM_006331.8
p.T124_R125insG
c.370_374ins3
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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."