Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.Q36L
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GNPTAB

NM_024312.5:p.Q36L

Associated Papers

LYSET facilitates integration of both the N- and C-terminal transmembrane helices/cytoplasmic domains of GlcNAc-1-phosphotransferase.

Doray B et al.

Molecular Biology of the Cell, 2025

Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins.

Pechincha C et al.

Science (new York, N.y.), 2022

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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."