Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.N331K

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.N331K
c.993T>G
Surrounding Variants
2 papers
NM_015697.9
p.N386H
c.1156A>C
2 papers
NM_015697.9
p.N386I
c.1157A>T
19 papers
NM_015697.9
p.R387*
c.1159C>T
NM_001358921.2
p.R337*
c.1009C>T
1 paper
NM_015697.9
p.R387Q
c.1160G>A
6 papers
NM_001358921.2
p.R325G
c.973A>G
5 papers
NM_015697.9
p.G390A
c.1169G>C
NM_001358921.2
p.G340A
c.1019G>C
2 papers
NM_015697.9
p.L371Q
c.1112T>A
NM_001358921.2
p.L321Q
c.962T>A
36 papers
NM_001358921.2
p.V343A
c.1028T>C
NM_015697.9
p.V393A
c.1178T>C
1 paper
NM_015697.9
p.Y369Y
c.1107C>T
1 paper
NM_001358921.2
p.Y319C
c.956A>G
1 paper
NM_001358921.2
p.I318N
c.953T>A
1 paper
NM_001358921.2
p.G346V
c.1037G>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."