Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P99A
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CFTR

NM_000492.4:p.P99A

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-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

Molecular dynamics study of Cl- permeation through cystic fibrosis transmembrane conductance regulator (CFTR).

Zeng ZW et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Contribution of the eighth transmembrane segment to the function of the CFTR chloride channel pore.

Negoda A et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Direct comparison of the functional roles played by different transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Ge N et al.

The Journal of Biological Chemistry, 2004

Structure and function of the CFTR chloride channel.

Sheppard DN et al.

Physiological Reviews, 1999

Contribution of proline residues in the membrane-spanning domains of cystic fibrosis transmembrane conductance regulator to chloride channel function.

Sheppard DN et al.

The Journal of Biological Chemistry, 1996

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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."