Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.C417S
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MTMR2

NM_016156.6:p.C417S

Associated Papers

Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth.

Sawade L et al.

Nature Communications, 2020

Myotubularin related protein-2 and its phospholipid substrate PIP2 control Piezo2-mediated mechanotransduction in peripheral sensory neurons.

Narayanan P et al.

Elife, 2018

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.

Vaccari I et al.

Plos Genetics, 2011

Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site.

Franklin NE et al.

The Journal of Biological Chemistry, 2011

The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling.

Berger P et al.

Journal of Cellular and Molecular Medicine, 2011

The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic.

Lee HW et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2.

Berger P et al.

Human Molecular Genetics, 2006

Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.

Begley MJ et al.

Molecular Cell, 2003

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

Berger P et al.

Human Molecular Genetics, 2002

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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."