Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I37R
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CFTR

NM_000492.4:p.I37R

Associated Papers

Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.

Blevings PJ et al.

The Ulster Medical Journal, 2025

Novel gain-of-function mutants identify a critical region within CFTR membrane-spanning domain 2 controlling cAMP-dependent and ATP-independent channel activation.

Castanier S et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Molecular Dynamics and Theratyping in Airway and Gut Organoids Reveal R352Q-CFTR Conductance Defect.

Wong SL et al.

American Journal of Respiratory Cell and Molecular Biology, 2022

Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Wong SL et al.

Iscience, 2022

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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."