Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R274Q
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MFN2

NM_014874.4:p.R274Q

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

A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.

Franco A et al.

Elife, 2023

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

Zaman M et al.

Frontiers in Cell and Developmental Biology, 2022

Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.

Beręsewicz M et al.

Scientific Reports, 2018

30442897 (PubMed )
Supplement: 41598_2018_35133_MOESM1_ESM.docx

The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.

Beręsewicz M et al.

Plos One, 2017

Mitochondrial dynamics in mammalian health and disease.

Liesa M et al.

Physiological Reviews, 2009

Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations.

Detmer SA et al.

The Journal of Cell Biology, 2007

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

Engelfried K et al.

Bmc Medical Genetics, 2006

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Kijima K et al.

Human Genetics, 2005

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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."