Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.W202C
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CFTR

NM_000492.4:p.W202C

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

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

29581173 (PubMed )
Supplement: JGP_201711946_TableS1.pdf

Cytoplasmic pathway followed by chloride ions to enter the CFTR channel pore.

El Hiani Y et al.

Cellular and Molecular Life Sciences : Cmls, 2016

Channel-lining residues in the M3 membrane-spanning segment of the cystic fibrosis transmembrane conductance regulator.

Akabas MH

Biochemistry, 1998

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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."