Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S495P
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CFTR

NM_000492.4:p.S495P

Associated Papers

Trikafta restores thermodynamic coupling between two nucleotide binding domains for potentiating CFTR activity.

Wang G

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2026

Effects of Point Mutations on the Thermal Stability of the NBD1 Domain of hCFTR.

Lublin L et al.

Journal of Chemical Information and Modeling, 2025

Allosteric inhibition of CFTR gating by CFTRinh-172 binding in the pore.

Gao X et al.

Nature Communications, 2024

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

Soya N et al.

Nature Communications, 2023

37891162 (PubMed )
Supplement: 41467_2023_42586_MOESM1_ESM.pdf

CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.

McDonald EF et al.

Acs Chemical Biology, 2023

Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator.

Bahia MS et al.

Journal of Chemical Information and Modeling, 2021

Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination.

Veit G et al.

Jci Insight, 2020

Structural stability of purified human CFTR is systematically improved by mutations in nucleotide binding domain 1.

Yang Z et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Substitution of Yor1p NBD1 residues improves the thermal stability of Human Cystic Fibrosis Transmembrane Conductance Regulator.

Xavier BM et al.

Protein Engineering, Design & Selection : Peds, 2017

Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

Vernon RM et al.

The Journal of Biological Chemistry, 2017

Thermal unfolding simulations of NBD1 domain variants reveal structural motifs associated with the impaired folding of F508del-CFTR.

Estácio SG et al.

Molecular Biosystems, 2016

Deletion of Phenylalanine 508 in the First Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator Increases Conformational Exchange and Inhibits Dimerization.

Chong PA et al.

The Journal of Biological Chemistry, 2015

Restoration of NBD1 thermal stability is necessary and sufficient to correct ∆F508 CFTR folding and assembly.

He L et al.

Journal of Molecular Biology, 2015

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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."