Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.M78V

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
23 papers
NM_001358921.2
p.M78V
c.232A>G
NM_015697.9
p.M128V
c.382A>G
Surrounding Variants
5 papers
NM_015697.9
p.M128L
c.382A>T
6 papers
NM_015697.9
p.M128R
c.383T>G
1 paper
NM_001358921.2
p.R79G
c.235C>G
2 papers
NM_015697.9
p.R126G
c.376C>G
1 paper
NM_001358921.2
p.L75delFs
c.224delA
1 paper
NM_015697.9
p.L130L
c.390G>A
1 paper
NM_001358921.2
p.D81Y
c.241G>T
1 paper
NM_001358921.2
p.Y74insFs
c.221_222ins8
1 paper
NM_001358921.2
p.P70S
c.208C>T
1 paper
NM_001358921.2
p.R69R
c.207C>G
1 paper
NM_015697.9
p.R119H
c.356G>A
2 papers
NM_015697.9
p.P118S
c.352C>T
NM_001358921.2
p.P68S
c.202C>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."