Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K381*
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CFTR

NM_000492.4:p.K381*

Associated Papers

Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.

Burgel PR et al.

Eclinicalmedicine, 2025

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Ahting S et al.

International Journal of Molecular Sciences, 2025

40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants__genomic_info

Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.

Mei-Zahav M et al.

Erj Open Research, 2025

39811546 (PubMed )
Supplement: 00587-2024.SUPPLEMENT.pdf

A uniquely efficacious type of CFTR corrector with complementary mode of action.

Marchesin V et al.

Science Advances, 2024

ABC-transporter CFTR folds with high fidelity through a modular, stepwise pathway.

Im J et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Comprehensive mapping of cystic fibrosis mutations to CFTR protein identifies mutation clusters and molecular docking predicts corrector binding site.

Molinski SV et al.

Proteins, 2018

Correctors of the Major Cystic Fibrosis Mutant Interact through Membrane-Spanning Domains.

Laselva O et al.

Molecular Pharmacology, 2018

The investigational Cystic Fibrosis drug Trimethylangelicin directly modulates CFTR by stabilizing the first membrane-spanning domain.

Laselva O et al.

Biochemical Pharmacology, 2016

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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."