Varaico: Literature-Extracted Genetic Variants

Gene:ARL13B
Variant:p.Y86C
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ARL13B

NM_001174150.2:p.Y86C

Associated Papers

Knocking out ARL13B completely abolishes primary ciliogenesis in cell lines.

Mahajan D et al.

Scientific Reports, 2025

Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China.

Ying L et al.

Bmc Pediatrics, 2022

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

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

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

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

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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."