Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q1280E
Back to variants list

CFTR

NM_000492.4:p.Q1280E

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

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

Carlile GW et al.

Scientific Reports, 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

Development and characterization of synthetic antibodies binding to the cystic fibrosis conductance regulator.

Gakhal AK et al.

Mabs, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."