Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.G359D
Back to variants list

DNM2

NM_001005361.3:p.G359D

Associated Papers

Muscle-Specific DNM2 Overexpression Improves Charcot-Marie-Tooth Disease In Vivo and Reveals a Narrow Therapeutic Window in Skeletal Muscle.

Goret M et al.

International Journal of Molecular Sciences, 2026

The dynamin Vps1 mediates Atg9 transport to the sites of autophagosome formation.

Arlt H et al.

The Journal of Biological Chemistry, 2023

A new mutation in DNM2 gene in a large Italian family.

Lopergolo D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.

Pereira JA et al.

Human Molecular Genetics, 2020

Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.

Massana Muñoz X et al.

Human Molecular Genetics, 2019

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.

Zhao M et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018

Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.

Chen S et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2018

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."