Varaico: Literature-Extracted Genetic Variants

Gene:TPCN2
Variant:p.N687S
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TPCN2

NM_139075.4:p.N687S

Associated Papers

OCA2 deficiency enhances TPC2 channel activity to reduce melanosomal pH and pigment production.

Wang Y et al.

The Journal of Investigative Dermatology, 2025

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.

Nagy N et al.

International Journal of Molecular Sciences, 2024

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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."