Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F1257L
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CFTR

NM_000492.4:p.F1257L

Associated Papers

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677473 (PubMed )
Supplement: media-1.xlsx › ST3

Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Ivey G et al.

Plos One, 2020

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

Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

Vernon RM et al.

The Journal of Biological Chemistry, 2017

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

Spectrum of CFTR gene sequence variants in a northern Portugal population.

Grangeia A et al.

Pulmonology, 0

Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases.

Michels M et al.

Genetics and Molecular Biology, 0

31808782 (PubMed )
Supplement: 1415-4757-GMB-42-3-2018-0148-suppl1.pdf
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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."