Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.V66L

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
11 papers
NM_015697.9
p.V66L
c.196G>C
NM_001358921.2
p.V16L
c.46G>C
Surrounding Variants
14 papers
NM_015697.9
p.V66L
c.196G>T
NM_001358921.2
p.V16L
c.46G>T
1 paper
NM_001358921.2
p.A17fs
c.49_50fs
1 paper
NM_001358921.2
p.R14Q
c.41G>A
1 paper
NM_001358921.2
p.A17A
c.51A>G
1 paper
NM_001358921.2
p.A17fs
c.49_50fs
1 paper
NM_001358921.2
p.L18M
c.52C>A
1 paper
NM_015697.9
p.A69fs
c.205_206fs
1 paper
NM_001358921.2
p.G12delFs
c.35delC
1 paper
NM_001358921.2
p.W20_L21insG
c.58_62ins3
1 paper
NM_001358921.2
p.G12fs
c.34_35fs
1 paper
NM_001358921.2
p.L21L
c.61C>T
1 paper
NM_001358921.2
p.A10A
c.30G>A
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