Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D1152A
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CFTR

NM_000492.4:p.D1152A

Associated Papers

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

VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level.

Cui G et al.

Scientific Reports, 2019

Potentiators exert distinct effects on human, murine, and Xenopus CFTR.

Cui G et al.

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

Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.

Cui G et al.

The Journal of Biological Chemistry, 2013

Differential contribution of TM6 and TM12 to the pore of CFTR identified by three sulfonylurea-based blockers.

Cui G et al.

Pflugers Archiv : European Journal of Physiology, 2012

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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."