Varaico: Literature-Extracted Genetic Variants

Gene:PANX1
Variant:p.R217H
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PANX1

NM_015368.4:p.R217H

Associated Papers

Pannexins in the musculoskeletal system: new targets for development and disease progression.

Luo Y et al.

Bone Research, 2024

Cryo-EM structures of pannexin 1 and 3 reveal differences among pannexin isoforms.

Hussain N et al.

Nature Communications, 2024

Differential activation of mouse and human Panx1 channel variants.

Cibelli A et al.

Plos One, 2023

Pannexin 1 Transgenic Mice: Human Diseases and Sleep-Wake Function Revision.

Battulin N et al.

International Journal of Molecular Sciences, 2021

Mutational effects of Pannexin 1 R217H depend on the carboxyl-terminus.

Purohit R et al.

Biochemical and Biophysical Research Communications, 2021

Pannexin 1 mutation found in melanoma tumor reduces phosphorylation, glycosylation, and trafficking of the channel-forming protein.

Nouri-Nejad D et al.

Molecular Biology of the Cell, 2021

Structure and Function of Cochlear Gap Junctions and Implications for the Translation of Cochlear Gene Therapies.

Wu X et al.

Frontiers in Cellular Neuroscience, 2019

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction.

Shao Q et al.

The Journal of Biological Chemistry, 2016

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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."