Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.G358R
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DNM1

NM_004408.4:p.G358R

Associated Papers

Biophysical analysis of an oligomerization-attenuated variant of the Leishmania donovani dynamin-1-like protein.

Wuyts E et al.

Molecular and Biochemical Parasitology, 2025

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

Laiman J et al.

Current Opinion in Cell Biology, 2023

Insights into dynamin-associated disorders through analysis of equivalent mutations in the yeast dynamin Vps1.

Moustaq L et al.

Microbial Cell (graz, Austria), 2016

Crystal structure of the dynamin tetramer.

Reubold TF et al.

Nature, 2015

Dynamin-2 function and dysfunction along the secretory pathway.

González-Jamett AM et al.

Frontiers in Endocrinology, 2013

Structural insights into dynamin-mediated membrane fission.

Faelber K et al.

Structure (london, England : 1993), 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J et al.

Human Mutation, 2012

Crystal structure of nucleotide-free dynamin.

Faelber K et al.

Nature, 2011

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

Koutsopoulos OS et al.

Plos One, 2011

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.

Kenniston JA et al.

The Embo Journal, 2010

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