Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.R54H

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.R54H
c.161G>A
Surrounding Variants
1 paper
NM_001358921.2
p.G53R
c.157G>C
1 paper
NM_001358921.2
p.G53R
c.157G>A
1 paper
NM_015697.9
p.L106H
c.317T>A
1 paper
NM_001358921.2
p.R52S
c.154C>A
8 papers
NM_015697.9
p.S107T
c.320G>C
NM_001358921.2
p.S57T
c.170G>C
2 papers
NM_015697.9
p.S109T
c.325T>A
2 papers
NM_015697.9
p.P99H
c.296C>A
1 paper
NM_001358921.2
p.S59insFs
c.177dupC
1 paper
NM_001358921.2
p.A60fs
c.178_179fs
1 paper
NM_001358921.2
p.A47G
c.140C>G
2 papers
NM_015697.9
p.P96insFs
c.288dupC
1 paper
NM_015697.9
p.A97fs
c.289_290fs
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