Varaico: Literature-Extracted Genetic Variants

Gene:COQ2

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
1–12 of 259 variants
19 papers
NM_001358921.2
p.V343A
c.1028T>C
19 papers
NM_015697.9
p.V393A
c.1178T>C
13 papers
NM_001358921.2
p.M78V
c.232A>G
12 papers
NM_015697.9
p.V66L
c.196G>T
12 papers
NM_015697.9
p.M128V
c.382A>G
12 papers
NM_001358921.2
p.R337*
c.1009C>T
11 papers
NM_015697.9
p.P157S
c.469C>T
9 papers
NM_015697.9
p.V66L
c.196G>C
9 papers
NM_015697.9
p.V343A
c.1028T>C
8 papers
NM_015697.9
p.S107T
c.320G>C
8 papers
NM_015697.9
p.N228S
c.683A>G
8 papers
NM_001358921.2
p.Y247C
c.740A>G
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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."