Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S686A
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CFTR

NM_000492.4:p.S686A

Associated Papers

Changes in the R-region interactions depend on phosphorylation and contribute to PKA and PKC regulation of the cystic fibrosis transmembrane conductance regulator chloride channel.

Poroca DR et al.

Faseb Bioadvances, 2020

Role of tyrosine phosphorylation in the muscarinic activation of the cystic fibrosis transmembrane conductance regulator (CFTR).

Billet A et al.

The Journal of Biological Chemistry, 2013

AMP-activated protein kinase phosphorylation of the R domain inhibits PKA stimulation of CFTR.

King JD et al.

American Journal of Physiology. Cell Physiology, 2009

Cystic fibrosis transmembrane conductance regulator: a chloride channel gated by ATP binding and hydrolysis.

Bompadre SG et al.

Sheng Li Xue Bao : [acta Physiologica Sinica], 2007

Capsaicin potentiates wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride-channel currents.

Ai T et al.

Molecular Pharmacology, 2004

Stimulatory and inhibitory protein kinase C consensus sequences regulate the cystic fibrosis transmembrane conductance regulator.

Chappe V et al.

Proceedings of the National Academy of Sciences of the United States of America, 2004

Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA.

Chappe V et al.

The Journal of Physiology, 2003

PKC-mediated stimulation of amphibian CFTR depends on a single phosphorylation consensus site. insertion of this site confers PKC sensitivity to human CFTR.

Button B et al.

The Journal of General Physiology, 2001

Control of CFTR channel gating by phosphorylation and nucleotide hydrolysis.

Gadsby DC et al.

Physiological Reviews, 1999

Regulation of the cystic fibrosis transmembrane conductance regulator Cl- channel by negative charge in the R domain.

Berger HA et al.

The Japanese Journal of Physiology, 1994

Regulation of the cystic fibrosis transmembrane conductance regulator Cl- channel by negative charge in the R domain.

Rich DP et al.

The Journal of Biological Chemistry, 1993

Protein kinase A (PKA) still activates CFTR chloride channel after mutagenesis of all 10 PKA consensus phosphorylation sites.

Chang XB et al.

The Journal of Biological Chemistry, 1993

Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel.

Cheng SH et al.

Cell, 1991

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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."