Varaico: Literature-Extracted Genetic Variants

Gene:ARL13B
Variant:p.R200C
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ARL13B

NM_001174150.2:p.R200C

Associated Papers

Knocking out ARL13B completely abolishes primary ciliogenesis in cell lines.

Mahajan D et al.

Scientific Reports, 2025

Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting.

Suciu SK et al.

Genetics, 2021

Primary Cilia Signaling Promotes Axonal Tract Development and Is Disrupted in Joubert Syndrome-Related Disorders Models.

Guo J et al.

Developmental Cell, 2019

The Ciliary Protein Arl13b Functions Outside of the Primary Cilium in Shh-Mediated Axon Guidance.

Ferent J et al.

Cell Reports, 2019

The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment.

Hanke-Gogokhia C et al.

The Journal of Biological Chemistry, 2017

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.

Rafiullah R et al.

European Journal of Human Genetics : Ejhg, 2017

Primary Cilia Signaling Shapes the Development of Interneuronal Connectivity.

Guo J et al.

Developmental Cell, 2017

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

Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts.

Li Y et al.

Journal of the American Society of Nephrology : Jasn, 2016

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

Mariani LE et al.

Molecular Biology of the Cell, 2016

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG et al.

Journal of Medical Genetics, 2016

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Thomas S et al.

European Journal of Human Genetics : Ejhg, 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

Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex.

Higginbotham H et al.

Developmental 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."