Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.R364C
Back to variants list

DNM2

NM_001005361.3:p.R364C

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

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

Laiman J et al.

Current Opinion in Cell Biology, 2023

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.

Biancalana V et al.

Acta Neuropathologica Communications, 2018

Novel dynamin 2 mutations in adult T-cell acute lymphoblastic leukemia.

Ge Z et al.

Oncology Letters, 2016

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."