Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S511A
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CFTR

NM_000492.4:p.S511A

Associated Papers

A defective flexible loop contributes to the processing and gating defects of the predominant cystic fibrosis-causing mutation.

Chen X et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

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

Inhibition of protein kinase CK2 closes the CFTR Cl channel, but has no effect on the cystic fibrosis mutant deltaF508-CFTR.

Treharne KJ et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2009

Protein kinase CK2, cystic fibrosis transmembrane conductance regulator, and the deltaF508 mutation: F508 deletion disrupts a kinase-binding site.

Treharne KJ et al.

The Journal of Biological Chemistry, 2007

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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."