Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.T192A

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.T192A
c.574A>G
Surrounding Variants
1 paper
NM_015697.9
p.V191L
c.571G>C
NM_001358921.2
p.V141L
c.421G>C
1 paper
NM_001358921.2
p.T144I
c.431C>T
1 paper
NM_001358921.2
p.N146S
c.437A>G
12 papers
NM_015697.9
p.R197H
c.590G>A
NM_001358921.2
p.R147H
c.440G>A
1 paper
NM_015697.9
p.G202R
c.604G>C
1 paper
NM_015697.9
p.G202R
c.604G>A
2 papers
NM_001358921.2
p.Q158*
c.472C>T
1 paper
NM_001358921.2
p.G165*
c.493G>T
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
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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."