Varaico: Literature-Extracted Genetic Variants

Gene:ARL6
Variant:p.T31R
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ARL6

NM_001278293.3:p.T31R

Associated Papers

Development of a versatile HPLC-based method to evaluate the activation status of small GTPases.

Araki M et al.

The Journal of Biological Chemistry, 2021

Bardet-Biedl syndrome 3 protein promotes ciliary exit of the signaling protein phospholipase D via the BBSome.

Liu YX et al.

Elife, 2021

Reproduction Function in Male Patients With Bardet Biedl Syndrome.

Koscinski I et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.

Gouronc A et al.

Clinical Genetics, 2020

Structure and activation mechanism of the BBSome membrane protein trafficking complex.

Singh SK et al.

Elife, 2020

Requirement of IFT-B-BBSome complex interaction in export of GPR161 from cilia.

Nozaki S et al.

Biology Open, 2019

The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3.

Liew GM et al.

Developmental Cell, 2014

Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

Su X et al.

Human Molecular Genetics, 2014

BBS mutational analysis: a strategic approach.

Billingsley G et al.

Ophthalmic Genetics, 2011

21463199 (PubMed )
Supplement: supplement_1.pdf

ARF family G proteins and their regulators: roles in membrane transport, development and disease.

Donaldson JG et al.

Nature Reviews. Molecular Cell Biology, 2011

Rabs and other small GTPases in ciliary transport.

Lim YS et al.

Biology of the Cell, 2011

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.

Pretorius PR et al.

Human Molecular Genetics, 2011

The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.

Jin H et al.

Cell, 2010

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling.

Wiens CJ et al.

The Journal of Biological Chemistry, 2010

Biochemical characterization of missense mutations in the Arf/Arl-family small GTPase Arl6 causing Bardet-Biedl syndrome.

Kobayashi T et al.

Biochemical and Biophysical Research Communications, 2009

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Fan Y et al.

Nature Genetics, 2004

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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."