Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.R173C

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_015697.9
p.R173C
c.517C>T
Surrounding Variants
8 papers
NM_015697.9
p.R173H
c.518G>A
NM_001358921.2
p.R123H
c.368G>A
1 paper
NM_001358921.2
p.G124R
c.370G>A
1 paper
NM_001358921.2
p.G124V
c.371G>T
1 paper
NM_001358921.2
p.G126S
c.376G>A
1 paper
NM_001358921.2
p.G126D
c.377G>A
1 paper
NM_001358921.2
p.C127S
c.380G>C
5 papers
NM_001358921.2
p.T128A
c.382A>G
1 paper
NM_001358921.2
p.N130D
c.388A>G
1 paper
NM_001358921.2
p.S113_L114delins
c.338_341delinsG
1 paper
NM_001358921.2
p.M132V
c.394A>G
6 papers
NM_015697.9
p.M182R
c.545T>G
NM_001358921.2
p.M132R
c.395T>G
1 paper
NM_015697.9
p.S163F
c.488C>T
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