Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.S461A
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MCOLN1

NM_020533.3:p.S461A

Associated Papers

Differential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants.

Rue BE et al.

The Journal of Biological Chemistry, 2026

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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."