Varaico: Literature-Extracted Genetic Variants

Gene:TPCN2
Variant:p.L265P
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TPCN2

NM_139075.4:p.L265P

Associated Papers

ABE9 fused to SpRY Cas9 nickase enables precise generation of bystander free mouse models.

Ong JK et al.

Scientific Reports, 2026

Lysosomal TPC2 channels disrupt Ca2+ entry and dopaminergic function in models of LRRK2-Parkinson's disease.

Gregori M et al.

The Journal of Cell Biology, 2025

Rab7a is an enhancer of TPC2 activity regulating melanoma progression through modulation of the GSK3β/β-Catenin/MITF-axis.

Abrahamian C et al.

Nature Communications, 2024

P-selectin-dependent leukocyte adhesion is governed by endolysosomal two-pore channel 2.

Goretzko J et al.

Cell Reports, 2023

Segregated cation flux by TPC2 biases Ca2+ signaling through lysosomes.

Yuan Y et al.

Nature Communications, 2022

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

Patel S et al.

Cells, 2022

Lsm12 is an NAADP receptor and a two-pore channel regulatory protein required for calcium mobilization from acidic organelles.

Zhang J et al.

Nature Communications, 2021

The name tells the story: Two-pore channels.

Stokłosa P et al.

Cell Calcium, 2020

Agonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal function.

Gerndt S et al.

Elife, 2020

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

An NAADP-gated two-pore channel targeted to the plasma membrane uncouples triggering from amplifying Ca2+ signals.

Brailoiu E et al.

The Journal of Biological Chemistry, 2010

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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."