Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E92D
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CFTR

NM_000492.4:p.E92D

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

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

Functionally additive fixed positive and negative charges in the CFTR channel pore control anion binding and conductance.

Linsdell P et al.

The Journal of Biological Chemistry, 2022

VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

Ren HY et al.

Molecular Biology of the Cell, 2013

23924900 (PubMed )
Supplement: supp_E13-05-0240v1_CombinedSupMats.pdf
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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."