Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.M1R

COQ2

198 papers

RefSeq Summary

This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzy...

Pfam Domains

UbiAaa 89–348UCSCUbiA prenyltransferase family

Gene Aliases

HGNC Name

coenzyme Q2, polyprenyltransferase

HGNC Alias Symbols

CL640; FLJ26072

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001358921.2
p.M1R
c.2T>G
Surrounding Variants
1 paper
NM_001358921.2
p.M1I
c.3G>T
1 paper
NM_001358921.2
p.M1insFs
c.2dupT
2 papers
NM_015697.9
p.G53S
c.157G>A
1 paper
NM_001358921.2
p.G3D
c.8G>A
1 paper
NM_001358921.2
p.G3insFs
c.7dupG
1 paper
NM_015697.9
p.S54W
c.161C>G
1 paper
NM_015697.9
p.R55*
c.163C>T
1 paper
NM_001358921.2
p.R5L
c.14G>T
1 paper
NM_001358921.2
p.A7insFs
c.20_21insG
1 paper
NM_015697.9
p.A43G
c.128C>G
3 papers
NM_015697.9
p.F59insFs
c.176dupT
1 paper
NM_015697.9
p.A60fs
c.178_179fs
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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."