Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q220R
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CFTR

NM_000492.4:p.Q220R

Associated Papers

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

Impact of cholesterol and Lumacaftor on the folding of CFTR helical hairpins.

Schenkel M et al.

Biochimica Et Biophysica Acta. Biomembranes, 2023

CFTR transmembrane segments are impaired in their conformational adaptability by a pathogenic loop mutation and dynamically stabilized by Lumacaftor.

Krainer G et al.

The Journal of Biological Chemistry, 2020

Structural effects of extracellular loop mutations in CFTR helical hairpins.

Chang YH et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.

Cheung JC et al.

Biochemistry, 2008

Role of the extracellular loop in the folding of a CFTR transmembrane helical hairpin.

Wehbi H et al.

Biochemistry, 2007

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

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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."