Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.P118S

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.P118S
c.352C>T
NM_001358921.2
p.P68S
c.202C>T
Surrounding Variants
1 paper
NM_015697.9
p.R119H
c.356G>A
1 paper
NM_001358921.2
p.R69R
c.207C>G
1 paper
NM_001358921.2
p.P70S
c.208C>T
1 paper
NM_001358921.2
p.V63_V64del1
c.189_191delACC
1 paper
NM_015697.9
p.V113_V114delins
c.338_341delinsG
1 paper
NM_001358921.2
p.A62P
c.184G>C
1 paper
NM_001358921.2
p.Y74insFs
c.221_222ins8
1 paper
NM_001358921.2
p.L75delFs
c.224delA
1 paper
NM_001358921.2
p.S59insFs
c.177dupC
1 paper
NM_001358921.2
p.A60fs
c.178_179fs
2 papers
NM_015697.9
p.R126G
c.376C>G
2 papers
NM_015697.9
p.S109T
c.325T>A
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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."