Varaico: Literature-Extracted Genetic Variants

Gene:ARL13B
Variant:p.T35N
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ARL13B

NM_001174150.2:p.T35N

Associated Papers

Knocking out ARL13B completely abolishes primary ciliogenesis in cell lines.

Mahajan D et al.

Scientific Reports, 2025

Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia.

Shi P et al.

Cells, 2023

The Joubert syndrome protein ARL13B binds tubulin to maintain uniform distribution of proteins along the ciliary membrane.

Revenkova E et al.

Journal of Cell Science, 2018

Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF).

Ivanova AA et al.

The Journal of Biological Chemistry, 2017

Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.

Nozaki S et al.

Journal of Cell Science, 2017

Arl13b regulates Shh signaling from both inside and outside the cilium.

Mariani LE et al.

Molecular Biology of the Cell, 2016

A function for the Joubert syndrome protein Arl13b in ciliary membrane extension and ciliary length regulation.

Lu H et al.

Developmental Biology, 2015

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.

Cevik S et al.

Plos Genetics, 2013

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.

Humbert MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion.

Duldulao NA et al.

Development (cambridge, England), 2009

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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."