Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S1359A
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CFTR

NM_000492.4:p.S1359A

Associated Papers

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

Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Ivey G et al.

Plos One, 2020

A novel triple combination of pharmacological chaperones improves F508del-CFTR correction.

Carlile GW et al.

Scientific Reports, 2018

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

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

Direct Binding of the Corrector VX-809 to Human CFTR NBD1: Evidence of an Allosteric Coupling between the Binding Site and the NBD1:CL4 Interface.

Hudson RP et al.

Molecular Pharmacology, 2017

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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."