Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.G272V

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.G272V
c.815G>T
Surrounding Variants
1 paper
NM_001358921.2
p.G272E
c.815G>A
5 papers
NM_015697.9
p.T325A
c.973A>G
NM_001358921.2
p.T275A
c.823A>G
3 papers
NM_001358921.2
p.K276delFs
c.827delT
1 paper
NM_001358921.2
p.T267T
c.801G>A
2 papers
NM_015697.9
p.T317A
c.949A>G
NM_001358921.2
p.T267A
c.799A>G
3 papers
NM_001358921.2
p.W278R
c.832T>C
2 papers
NM_015697.9
p.S330S
c.990C>T
2 papers
NM_015697.9
p.G331S
c.991G>A
1 paper
NM_015697.9
p.G331G
c.993C>T
3 papers
NM_001358921.2
p.L261fs
c.781_782fs
1 paper
NM_001358921.2
p.V284I
c.850G>A
1 paper
NM_001358921.2
p.V284delFs
c.851delA
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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."