Varaico: Literature-Extracted Genetic Variants

Gene:RABL2B
Variant:p.Q80L
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RABL2B

NM_001130919.3:p.Q80L

Associated Papers

Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet-Biedl syndrome-like ciliary defects.

Tasaki K et al.

Human Molecular Genetics, 2023

CEP19-RABL2-IFT-B axis controls BBSome-mediated ciliary GPCR export.

Zhou Z et al.

Molecular Biology of the Cell, 2022

Rabl2 GTP hydrolysis licenses BBSome-mediated export to fine-tune ciliary signaling.

Duan S et al.

The Embo Journal, 2021

RABL2 positively controls localization of GPCRs in mammalian primary cilia.

Dateyama I et al.

Journal of Cell Science, 2019

The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.

Kanie T et al.

Developmental Cell, 2017

Gating Ciliary Transport.

Sánchez I et al.

Developmental Cell, 2017

RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly.

Nishijima Y et al.

Molecular Biology of the Cell, 2017

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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."