Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.T65A
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DNM1

NM_004408.4:p.T65A

Associated Papers

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

Arlt H et al.

The Journal of Biological Chemistry, 2023

Eps15R and clathrin regulate EphB2-mediated cell repulsion.

Evergren E et al.

Traffic (copenhagen, Denmark), 2018

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Unknown Author

American Journal of Human Genetics, 2014

Dynamin-2 in nervous system disorders.

González-Jamett AM et al.

Journal of Neurochemistry, 2014

Dynamin-catalyzed membrane fission requires coordinated GTP hydrolysis.

Liu YW et al.

Plos One, 2013

A feedback loop between dynamin and actin recruitment during clathrin-mediated endocytosis.

Taylor MJ et al.

Plos Biology, 2012

A new role for the dynamin GTPase in the regulation of fusion pore expansion.

Anantharam A et al.

Molecular Biology of the Cell, 2011

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

Kenniston JA et al.

The Embo Journal, 2010

hSef potentiates EGF-mediated MAPK signaling through affecting EGFR trafficking and degradation.

Ren Y et al.

Cellular Signalling, 2008

Dynamin GTPase domain mutants that differentially affect GTP binding, GTP hydrolysis, and clathrin-mediated endocytosis.

Song BD et al.

The Journal of Biological Chemistry, 2004

Transforming growth factor beta activates Smad2 in the absence of receptor endocytosis.

Lu Z et al.

The Journal of Biological Chemistry, 2002

GTPase activity of dynamin and resulting conformation change are essential for endocytosis.

Marks B et al.

Nature, 2001

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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."