Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.P285R

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.P285R
c.854C>G
Surrounding Variants
3 papers
NM_001358921.2
p.L234fs
c.700_701fs
6 papers
NM_001358921.2
p.L234delFs
c.701delA
1 paper
NM_001358921.2
p.L236F
c.706C>T
1 paper
NM_001358921.2
p.L234fs
c.700_701fs
1 paper
NM_001358921.2
p.C233_L234ins5
c.699_700ins15
1 paper
NM_001358921.2
p.C233Y
c.698G>A
1 paper
NM_001358921.2
p.V232I
c.694G>A
1 paper
NM_015697.9
p.G290R
c.868G>A
1 paper
NM_001358921.2
p.G240E
c.719G>A
1 paper
NM_001358921.2
p.D229A
c.686A>C
3 papers
NM_001358921.2
p.C228R
c.682T>C
NM_015697.9
p.C278R
c.832T>C
1 paper
NM_001358921.2
p.G226G
c.678T>A
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