Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.L162F

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
2 papers
NM_015697.9
p.L162F
c.484C>T
Surrounding Variants
1 paper
NM_001358921.2
p.M111delFs
c.332delA
1 paper
NM_015697.9
p.S163F
c.488C>T
1 paper
NM_001358921.2
p.S113_L114delins
c.338_341delinsG
3 papers
NM_001358921.2
p.W109*
c.326G>A
3 papers
NM_001358921.2
p.W109R
c.325T>A
12 papers
NM_015697.9
p.P157S
c.469C>T
NM_001358921.2
p.P107S
c.319C>T
2 papers
NM_001358921.2
p.F106Y
c.317T>A
1 paper
NM_015697.9
p.R173C
c.517C>T
8 papers
NM_015697.9
p.R173H
c.518G>A
NM_001358921.2
p.R123H
c.368G>A
1 paper
NM_001358921.2
p.G124R
c.370G>A
1 paper
NM_001358921.2
p.G124V
c.371G>T
1 paper
NM_001358921.2
p.G98insFs
c.293dupG
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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."