Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q1313K
Back to variants list

CFTR

NM_000492.4:p.Q1313K

Associated Papers

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

First real-world study of fetal therapy with CFTR modulators in cystic fibrosis: Report from the MODUL-CF study.

Bonnel AS et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Pranke I et al.

Erj Open Research, 2018

29497617 (PubMed )
Supplement: 00080-2017_supp.pdf

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

Chen JM et al.

Molecular Biology and Evolution, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."