Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A554E
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CFTR

NM_000492.4:p.A554E

Associated Papers

General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.

Tedman A et al.

Elife, 2025

41379933 (PubMed )
Supplement: elife-107180-supp1.xlsx › CANX_KO_Counts

Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.

Rafique H et al.

Journal of Computer-aided Molecular Design, 2025

Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.

Papadakis L et al.

Erj Open Research, 2025

41189580 (PubMed )
Supplement: 00007-2025.SUPPLEMENT.pdf

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.

Tedman A et al.

Biorxiv : the Preprint Server for Biology, 2025

40964320 (PubMed )
Supplement: media-1.pdf

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Conti J et al.

Children (basel, Switzerland), 2022

Discovery of CFTR modulators for the treatment of cystic fibrosis.

Lopes-Pacheco M et al.

Expert Opinion on Drug Discovery, 2021

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

Functional analysis of mutations in the putative binding site for cystic fibrosis transmembrane conductance regulator potentiators. Interaction between activation and inhibition.

Zegarra-Moran O et al.

The Journal of Biological Chemistry, 2007

Identification of 12 novel mutations in the CFTR gene.

Audrézet MP et al.

Human Molecular Genetics, 1993

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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."