Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S422A
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CFTR

NM_000492.4:p.S422A

Associated Papers

Platelet CFTR inhibition enhances arterial thrombosis via increasing intracellular Cl- concentration and activation of SGK1 signaling pathway.

Yang HY et al.

Acta Pharmacologica Sinica, 2022

A mutational approach to dissect the functional role of the putative CFTR "PTM-CODE".

D'Amore C et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021

STRUCTURE, GATING, AND REGULATION OF THE CFTR ANION CHANNEL.

Csanády L et al.

Physiological Reviews, 2019

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

CFTR mutations altering CFTR fragmentation.

Tosoni K et al.

The Biochemical Journal, 2013

Contribution of casein kinase 2 and spleen tyrosine kinase to CFTR trafficking and protein kinase A-induced activity.

Luz S et al.

Molecular and Cellular Biology, 2011

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

Functional roles of nonconserved structural segments in CFTR's NH2-terminal nucleotide binding domain.

Csanády L et al.

The Journal of General Physiology, 2005

Control of CFTR channel gating by phosphorylation and nucleotide hydrolysis.

Gadsby DC et al.

Physiological Reviews, 1999

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."