Varaico: Literature-Extracted Genetic Variants

Gene:TPCN2
Variant:p.V34A
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TPCN2

NM_139075.4:p.V34A

Associated Papers

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

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

Fernández B et al.

Autophagy, 2016

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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."