Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.S58A
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MTMR2

NM_016156.6:p.S58A

Associated Papers

Endosomal PI(3)P regulation by the COMMD/CCDC22/CCDC93 (CCC) complex controls membrane protein recycling.

Singla A et al.

Nature Communications, 2019

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.

Raess MA et al.

Human Molecular Genetics, 2017

Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes.

Franklin NE et al.

Journal of Cell Science, 2013

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

Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization.

Goryunov D et al.

Journal of Neurochemistry, 2008

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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."