Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN2
Variant:p.A424P
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MCOLN2

NM_153259.4:p.A424P

Associated Papers

Cryo-EM structure of mouse TRPML2 in lipid nanodiscs.

Song X et al.

The Journal of Biological Chemistry, 2022

The S4---S5 linker - gearbox of TRP channel gating.

Hofmann L et al.

Cell Calcium, 2017

The mucolipin-2 (TRPML2) ion channel: a tissue-specific protein crucial to normal cell function.

Cuajungco MP et al.

Pflugers Archiv : European Journal of Physiology, 2016

Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.

Zeevi DA et al.

Journal of Cell Science, 2010

Constitutive activity of the human TRPML2 channel induces cell degeneration.

Lev S et al.

The Journal of Biological Chemistry, 2010

The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.

Samie MA et al.

Pflugers Archiv : European Journal of Physiology, 2009

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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."