Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y1307N
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CFTR

NM_000492.4:p.Y1307N

Associated Papers

Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator.

Bahia MS et al.

Journal of Chemical Information and Modeling, 2021

A novel triple combination of pharmacological chaperones improves F508del-CFTR correction.

Carlile GW et al.

Scientific Reports, 2018

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

Direct Binding of the Corrector VX-809 to Human CFTR NBD1: Evidence of an Allosteric Coupling between the Binding Site and the NBD1:CL4 Interface.

Hudson RP et al.

Molecular Pharmacology, 2017

Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins.

Da Paula AC et al.

The Journal of Biological Chemistry, 2010

Development and characterization of synthetic antibodies binding to the cystic fibrosis conductance regulator.

Gakhal AK et al.

Mabs, 0

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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."