Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.G40D

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.G40D
c.119G>A
Surrounding Variants
2 papers
NM_015697.9
p.P96insFs
c.288dupC
1 paper
NM_015697.9
p.A97fs
c.289_290fs
1 paper
NM_001358921.2
p.A47G
c.140C>G
1 paper
NM_001358921.2
p.A32T
c.94G>A
2 papers
NM_015697.9
p.P99H
c.296C>A
2 papers
NM_001358921.2
p.A30P
c.88G>C
1 paper
NM_015697.9
p.F79L
c.237C>G
1 paper
NM_015697.9
p.F79L
c.237C>A
1 paper
NM_015697.9
p.F79L
c.235T>C
1 paper
NM_001358921.2
p.R52S
c.154C>A
1 paper
NM_001358921.2
p.G53R
c.157G>C
1 paper
NM_001358921.2
p.G53R
c.157G>A
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