Varaico: Literature-Extracted Genetic Variants

Gene:VPS33A
Variant:p.I256L
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VPS33A

NM_022916.6:p.I256L

Associated Papers

Impaired biogenesis of renin granules in juxtaglomerular cells of Vps33a (D251E) mutant mice.

Wang H et al.

Journal of Cell Science, 2025

The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

Bowman SL et al.

Traffic (copenhagen, Denmark), 2019

Sec1/Munc18 protein Vps33 binds to SNARE domains and the quaternary SNARE complex.

Lobingier BT et al.

Molecular Biology of the Cell, 2012

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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."