Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R275W
Back to variants list

MFN2

NM_014874.4:p.R275W

Associated Papers

Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.

Zheng Y et al.

Brain : a Journal of Neurology, 2025

39423307 (PubMed )
Supplement: awae324_supplementary_data.zip › brain-2024-01629-File013-v2.xlsx › Sheet1

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.

Ferreira T et al.

Journal of Neurology, 2024

A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.

Franco A et al.

Elife, 2023

37910431 (PubMed )
Supplement: elife-84235-fig1-data1.xlsx › Sheet1

Polyubiquitination of apurinic/apyrimidinic endonuclease 1 by Parkin.

Scott TL et al.

Molecular Carcinogenesis, 2017

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."