Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R170G
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CFTR

NM_000492.4:p.R170G

Associated Papers

Target Identification with Live-Cell Photoaffinity Labeling and Mechanism of Action Elucidation of ARN23765, a Highly Potent CFTR Corrector.

Romeo E et al.

Journal of Medicinal Chemistry, 2025

Analysis of AlphaMissense data in different protein groups and structural context.

Tordai H et al.

Scientific Data, 2024

Folding correctors can restore CFTR posttranslational folding landscape by allosteric domain-domain coupling.

Soya N et al.

Nature Communications, 2023

Folding correctors can restore CFTR posttranslational folding landscape by allosteric domain-domain coupling.

Soya N et al.

Biorxiv : the Preprint Server for Biology, 2023

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

Co-Translational Folding of the First Transmembrane Domain of ABC-Transporter CFTR is Supported by Assembly with the First Cytosolic Domain.

Kleizen B et al.

Journal of Molecular Biology, 2021

Role of Protein Kinase A-Mediated Phosphorylation in CFTR Channel Activity Regulation.

Della Sala A et al.

Frontiers in Physiology, 2021

Correctors of the Major Cystic Fibrosis Mutant Interact through Membrane-Spanning Domains.

Laselva O et al.

Molecular Pharmacology, 2018

Mutation-specific downregulation of CFTR2 variants by gating potentiators.

Avramescu RG et al.

Human Molecular Genetics, 2017

Attenuation of Phosphorylation-dependent Activation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by Disease-causing Mutations at the Transmission Interface.

Chin S et al.

The Journal of Biological Chemistry, 2017

From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Veit G et al.

Molecular Biology of the Cell, 2016

Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression.

Veit G et al.

Science Translational Medicine, 2014

Mechanism-based corrector combination restores ΔF508-CFTR folding and function.

Okiyoneda T et al.

Nature Chemical Biology, 2013

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

Chen JM et al.

Molecular Biology and Evolution, 2001

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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."