Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D567A
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CFTR

NM_000492.4:p.D567A

Associated Papers

Unraveling the Mechanism of Action, Binding Sites, and Therapeutic Advances of CFTR Modulators: A Narrative Review.

Baroni D

Current Issues in Molecular Biology, 2025

PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR.

Ferreira FC et al.

European Journal of Pharmacology, 2024

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

ABC-transporter CFTR folds with high fidelity through a modular, stepwise pathway.

Im J et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Identification of novel F508del-CFTR traffic correctors among triazole derivatives.

Bacalhau M et al.

European Journal of Pharmacology, 2023

Pharmacological chaperone-rescued cystic fibrosis CFTR-F508del mutant overcomes PRAF2-gated access to endoplasmic reticulum exit sites.

Saha K et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Proteomics and Metabolomics for Cystic Fibrosis Research.

Liessi N et al.

International Journal of Molecular Sciences, 2020

Folding Status Is Determinant over Traffic-Competence in Defining CFTR Interactors in the Endoplasmic Reticulum.

Santos JD et al.

Cells, 2019

Revertants, low temperature, and correctors reveal the mechanism of F508del-CFTR rescue by VX-809 and suggest multiple agents for full correction.

Farinha CM et al.

Chemistry & Biology, 2013

COPII machinery cooperates with ER-localized Hsp40 to sequester misfolded membrane proteins into ER-associated compartments.

Kakoi S et al.

Molecular Biology of the Cell, 2013

Targets for cystic fibrosis therapy: proteomic analysis and correction of mutant cystic fibrosis transmembrane conductance regulator.

Collawn JF et al.

Expert Review of Proteomics, 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."