Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.Y247C

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
12 papers
NM_001358921.2
p.Y247C
c.740A>G
NM_015697.9
p.Y297C
c.890A>G
Surrounding Variants
2 papers
NM_015697.9
p.D298D
c.894T>C
1 paper
NM_001358921.2
p.M242_L245delFs
c.726_735del10
5 papers
NM_015697.9
p.T294I
c.881C>T
NM_001358921.2
p.T244I
c.731C>T
9 papers
NM_001358921.2
p.A252V
c.755C>T
NM_015697.9
p.A302V
c.905C>T
1 paper
NM_001358921.2
p.Q254*
c.760C>T
1 paper
NM_001358921.2
p.G240E
c.719G>A
1 paper
NM_015697.9
p.G290R
c.868G>A
1 paper
NM_001358921.2
p.L236F
c.706C>T
1 paper
NM_015697.9
p.P285R
c.854C>G
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.L234fs
c.700_701fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."