Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E54A
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CFTR

NM_000492.4:p.E54A

Associated Papers

Trikafta rescues F508del-CFTR by tightening specific phosphorylation-dependent interdomain interactions.

Wang G

Biorxiv : the Preprint Server for Biology, 2025

The structures of protein kinase A in complex with CFTR: Mechanisms of phosphorylation and noncatalytic activation.

Fiedorczuk K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

A conserved WXXE motif is an apical delivery determinant of ABC transporter C subfamily isoforms.

Haque MS et al.

Cell Structure and Function, 2023

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

A cluster of negative charges at the amino terminal tail of CFTR regulates ATP-dependent channel gating.

Fu J et al.

The Journal of Physiology, 2001

Cysteine substitutions reveal dual functions of the amino-terminal tail in cystic fibrosis transmembrane conductance regulator channel gating.

Fu J et al.

The Journal of Biological Chemistry, 2001

CFTR chloride channel regulation by an interdomain interaction.

Naren AP et al.

Science (new York, N.y.), 1999

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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."