Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.R53W
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AIPL1

NM_014336.5:p.R53W

Associated Papers

Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.

Galieva A et al.

International Journal of Molecular Sciences, 2025

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.

Sacristan-Reviriego A et al.

Scientific Reports, 2020

AIPL1: A specialized chaperone for the phototransduction effector.

Yadav RP et al.

Cellular Signalling, 2017

Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.

Gopalakrishna KN et al.

The Journal of Biological Chemistry, 2016

Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.

Majumder A et al.

The Journal of Biological Chemistry, 2013

Structural studies on AIPL1 and its functional interactions with NUB1 to identify key interacting residues in LCA4.

Muthukumaran S et al.

Journal of Ocular Biology, Diseases, and Informatics, 2012

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.

Akey DT et al.

Human Molecular Genetics, 2002

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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."