Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.M182R
Back to variants list

COQ2

NM_015697.9:p.M182R

Associated Papers

Prenatal Diagnosis of COQ2 Variants in Suspected Coenzyme Q10 Deficiency.

Feng Z et al.

Kidney International Reports, 2025

An AlphaFold Structure Analysis of COQ2 as Key a Component of the Coenzyme Q Synthesis Complex.

Vargas-Pérez MLÁ et al.

Antioxidants (basel, Switzerland), 2024

Cellular Models for Primary CoQ Deficiency Pathogenesis Study.

Santos-Ocaña C et al.

International Journal of Molecular Sciences, 2021

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.

Abdelhakim AH et al.

Orphanet Journal of Rare Diseases, 2020

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Desbats MA et al.

Human Molecular Genetics, 2016

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

Desbats MA et al.

European Journal of Human Genetics : Ejhg, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."