Varaico: Literature-Extracted Genetic Variants

Gene:TPCN1
Variant:p.L273P
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TPCN1

NM_017901.6:p.L273P

Associated Papers

Electrophysiology of Endolysosomal Two-Pore Channels: A Current Account.

Patel S et al.

Cells, 2022

Localized TPC1-mediated Ca2+ release from endolysosomes contributes to myoseptal junction development in zebrafish.

Rice KL et al.

Journal of Cell Science, 2022

Iron overload causes endolysosomal deficits modulated by NAADP-regulated 2-pore channels and RAB7A.

Fernández B et al.

Autophagy, 2016

Poring over two-pore channel pore mutants.

Penny CJ et al.

Messenger (los Angeles, Calif. : Print), 2015

Leucine-rich repeat kinase 2 regulates autophagy through a calcium-dependent pathway involving NAADP.

Gómez-Suaga P et al.

Human Molecular Genetics, 2012

Domain assembly of NAADP-gated two-pore channels.

Churamani D et al.

The Biochemical Journal, 2012

Essential requirement for two-pore channel 1 in NAADP-mediated calcium signaling.

Brailoiu E et al.

The Journal of Cell Biology, 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."