Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.Y597F
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DNM2

NM_001005361.3:p.Y597F

Associated Papers

Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease.

Tassin TC et al.

Frontiers in Cellular Neuroscience, 2021

Dynamin-2 Regulates Postsynaptic Cytoskeleton Organization and Neuromuscular Junction Development.

Lin SS et al.

Cell Reports, 2020

Opposite roles of FAP-1 and dynamin in the regulation of Fas (CD95) translocation to the cell surface and susceptibility to Fas ligand-mediated apoptosis.

Ivanov VN et al.

The Journal of Biological Chemistry, 2006

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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."