Varaico: Literature-Extracted Genetic Variants

Gene:ARL6
Variant:p.Q73L
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ARL6

NM_001278293.3:p.Q73L

Associated Papers

Mapping the global interactome of the ARF family reveals spatial organization in cellular signaling pathways.

Quirion L et al.

Journal of Cell Science, 2024

38606629 (PubMed )
Supplement: joces-137-262140-s1.pdf

Mapping the global interactome of the ARF family reveals spatial organization in cellular signaling pathways.

Quirion L et al.

Biorxiv : the Preprint Server for Biology, 2024

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

31471295 (PubMed )
Supplement: biolopen-8-043786-s1.pdf

BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex.

Nozaki S et al.

Plos One, 2018

A recombinant BBSome core complex and how it interacts with ciliary cargo.

Klink BU et al.

Elife, 2017

Structural basis for membrane targeting of the BBSome by ARL6.

Mourão A et al.

Nature Structural & Molecular Biology, 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

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.

Zhang Q et al.

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

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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."