Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y517C
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CFTR

NM_000492.4:p.Y517C

Associated Papers

Prevalence and phenotype of food allergy in children with cystic fibrosis.

Nguyen HP et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2025

Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.

Chandane P et al.

Lung India : Official Organ of Indian Chest Society, 2025

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 comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

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

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.

Singh M et al.

Respirology (carlton, Vic.), 2015

Molecular basis of cystic fibrosis disease: an Indian perspective.

Prasad R et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2010

Identification and characterization of CFTR gene mutations in Indian CF patients.

Sharma N et al.

Annals of Human Genetics, 2009

The role of the STAS domain in the function and biogenesis of a sulfate transporter as probed by random mutagenesis.

Shibagaki N et al.

The Journal of Biological Chemistry, 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."