Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y1219F
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CFTR

NM_000492.4:p.Y1219F

Associated Papers

Synergistic Potentiation of Cystic Fibrosis Transmembrane Conductance Regulator Gating by Two Chemically Distinct Potentiators, Ivacaftor (VX-770) and 5-Nitro-2-(3-Phenylpropylamino) Benzoate.

Lin WY et al.

Molecular Pharmacology, 2016

A single amino acid substitution in CFTR converts ATP to an inhibitory ligand.

Lin WY et al.

The Journal of General Physiology, 2014

A stable ATP binding to the nucleotide binding domain is important for reliable gating cycle in an ABC transporter CFTR.

Shimizu H et al.

The Journal of Physiological Sciences : Jps, 2010

The two ATP binding sites of cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics.

Zhou Z et al.

The Journal of General Physiology, 2006

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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."