Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.V375G
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DNM2

NM_001005361.3:p.V375G

Associated Papers

A novel DNM2 variant associated with centronuclear myopathy: a case report.

Rimoldi M et al.

Frontiers in Genetics, 2025

40259930 (PubMed )
Supplement: DataSheet1.pdf

[The dynamin-2-gene related centronuclear myopathy].

Bitoun M

Medecine Sciences : M/s, 2023

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

Arlt H et al.

The Journal of Biological Chemistry, 2023

Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.

Laiman J et al.

Current Opinion in Cell Biology, 2023

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

Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.

Hohendahl A et al.

Journal of Structural Biology, 2016

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.

Sambuughin N et al.

Bmc Neurology, 2015

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Fattori F et al.

Journal of Neurology, 2015

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.

Catteruccia M et al.

Neuromuscular Disorders : Nmd, 2013

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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."