Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S707A
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CFTR

NM_000492.4:p.S707A

Associated Papers

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677473 (PubMed )
Supplement: media-1.xlsx › ST3

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

PKC phosphorylation modulates PKA-dependent binding of the R domain to other domains of CFTR.

Seavilleklein G et al.

American Journal of Physiology. Cell Physiology, 2008

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

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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."