Varaico: Literature-Extracted Genetic Variants

Gene:RAB33B
Variant:p.Q92L
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RAB33B

NM_031296.3:p.Q92L

Associated Papers

Mutations in the Rab33b protein that lead to the skeletal disease Smith-McCort dysplasia result in unstable proteins and altered autophagy function.

Parisi SR et al.

European Journal of Cell Biology, 2026

Two specific interactions of GATE16 with TRPML3 and RAB33B regulate autophagy.

Park J et al.

Scientific Reports, 2025

ATG16L1 adopts a dual-binding site mode to interact with WIPI2b in autophagy.

Gong X et al.

Science Advances, 2023

RAB33B recruits the ATG16L1 complex to the phagophore via a noncanonical RAB binding protein.

Pantoom S et al.

Autophagy, 2021

Multitasking Rab Proteins in Autophagy and Membrane Trafficking: A Focus on Rab33b.

Morgan NE et al.

International Journal of Molecular Sciences, 2019

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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."