Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.G165*

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.G165*
c.493G>T
Surrounding Variants
1 paper
NM_001358921.2
p.L167delFs
c.500delA
1 paper
NM_001358921.2
p.T168I
c.503C>T
1 paper
NM_001358921.2
p.A170G
c.509C>G
1 paper
NM_001358921.2
p.A170insFs
c.508dupG
1 paper
NM_015697.9
p.L221P
c.662T>C
2 papers
NM_001358921.2
p.Q158*
c.472C>T
1 paper
NM_001358921.2
p.L174P
c.521T>C
1 paper
NM_015697.9
p.G202R
c.604G>C
1 paper
NM_015697.9
p.G202R
c.604G>A
1 paper
NM_001358921.2
p.N178I
c.533A>T
13 papers
NM_015697.9
p.N228S
c.683A>G
NM_001358921.2
p.N178S
c.533A>G
1 paper
NM_015697.9
p.S231I
c.692G>T
NM_001358921.2
p.S181I
c.542G>T
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