Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.C524S
Back to variants list

CFTR

NM_000492.4:p.C524S

Associated Papers

Trafficking and function of the cystic fibrosis transmembrane conductance regulator: a complex network of posttranslational modifications.

McClure ML et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 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

Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.

Alexander C et al.

Biochemistry, 2009

CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore.

Serrano JR et al.

Biophysical Journal, 2006

Insight in eukaryotic ABC transporter function by mutation analysis.

Frelet A et al.

Febs Letters, 2006

The DeltaF508 mutation disrupts packing of the transmembrane segments of the cystic fibrosis transmembrane conductance regulator.

Chen EY et al.

The Journal of Biological Chemistry, 2004

Cysteine residues in the nucleotide binding domains regulate the conductance state of CFTR channels.

Harrington MA et al.

Biophysical Journal, 2002

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."