Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.R427P
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MCOLN1

NM_020533.3:p.R427P

Associated Papers

Structure of mammalian endolysosomal TRPML1 channel in nanodiscs.

Chen Q et al.

Nature, 2017

Lysosomal calcium signalling regulates autophagy through calcineurin and ​TFEB.

Medina DL et al.

Nature Cell Biology, 2015

PI(3,5)P(2) controls membrane trafficking by direct activation of mucolipin Ca(2+) release channels in the endolysosome.

Dong XP et al.

Nature Communications, 2010

Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis.

Dong XP et al.

The Journal of Biological Chemistry, 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."