Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS2
Variant:p.R118Q
Back to variants list

NDUFS2

NM_001377299.1:p.R118Q

Associated Papers

Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.

Epifane-de-Assunção MC et al.

Molecular Neurobiology, 2025

Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.

Ősz F et al.

Antioxidants (basel, Switzerland), 2025

Disease models of Leigh syndrome: From yeast to organoids.

Henke MT et al.

Journal of Inherited Metabolic Disease, 2024

Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.

Barshad G et al.

Scientific Reports, 2019

Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency.

Ehinger JK et al.

Nature Communications, 2016

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Tuppen HA et al.

Brain : a Journal of Neurology, 2010

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."