Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.N900D
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CFTR

NM_000492.4:p.N900D

Associated Papers

Transcytosis maintains CFTR apical polarity in the face of constitutive and mutation-induced basolateral missorting.

Bidaud-Meynard A et al.

Journal of Cell Science, 2019

Trafficking and function of the cystic fibrosis transmembrane conductance regulator: a complex network of posttranslational modifications.

McClure ML et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2016

Alteration of CFTR transmembrane span integration by disease-causing mutations.

Patrick AE et al.

Molecular Biology of the Cell, 2011

21998193 (PubMed )
Supplement: supp_E11-05-0396_CombinedSupMats.pdf

Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.

Cholon DM et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2010

N-glycans are direct determinants of CFTR folding and stability in secretory and endocytic membrane traffic.

Glozman R et al.

The Journal of Cell Biology, 2009

Role of N-linked oligosaccharides in the biosynthetic processing of the cystic fibrosis membrane conductance regulator.

Chang XB et al.

Journal of Cell Science, 2008

Domain interdependence in the biosynthetic assembly of CFTR.

Cui L et al.

Journal of Molecular Biology, 2007

A novel CFTR disease-associated mutation causes addition of an extra N-linked oligosaccharide.

Hämmerle MM et al.

Glycoconjugate Journal, 2000

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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."