Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.M21V
Back to variants list

MFN2

NM_014874.4:p.M21V

Associated Papers

Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.

Joaquim M et al.

Journal of Cell Science, 2025

The Balance of MFN2 and OPA1 in Mitochondrial Dynamics, Cellular Homeostasis, and Disease.

Zanfardino P et al.

Biomolecules, 2025

The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.

Zaman M et al.

Frontiers in Cell and Developmental Biology, 2022

Structure, function, and regulation of mitofusin-2 in health and disease.

Chandhok G et al.

Biological Reviews of the Cambridge Philosophical Society, 2018

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.

Guillet V et al.

Neurogenetics, 2010

Mitochondrial dynamics in mammalian health and disease.

Liesa M et al.

Physiological Reviews, 2009

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.

Loiseau D et al.

Annals of Neurology, 2007

Leber's optic neuropathy and Charcot-Marie-Tooth disease. Report of a case.

McCluskey DJ et al.

Journal of Clinical Neuro-ophthalmology, 1986

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."