Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.G331S

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.G331S
c.991G>A
Surrounding Variants
2 papers
NM_015697.9
p.S330S
c.990C>T
1 paper
NM_015697.9
p.G331G
c.993C>T
3 papers
NM_001358921.2
p.W278R
c.832T>C
1 paper
NM_001358921.2
p.V284I
c.850G>A
1 paper
NM_001358921.2
p.V284delFs
c.851delA
3 papers
NM_001358921.2
p.K276delFs
c.827delT
1 paper
NM_001358921.2
p.A285E
c.854C>A
1 paper
NM_001358921.2
p.M286V
c.856A>G
5 papers
NM_015697.9
p.T325A
c.973A>G
NM_001358921.2
p.T275A
c.823A>G
2 papers
NM_015697.9
p.G338E
c.1013G>A
1 paper
NM_001358921.2
p.V284_L287del4
c.850_860del12
1 paper
NM_001358921.2
p.G272V
c.815G>T
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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."