Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E92A
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CFTR

NM_000492.4:p.E92A

Associated Papers

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Kondratyeva E et al.

Frontiers in Genetics, 2024

39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1

A Novel Mutation in Cystic Fibrosis Presenting as Pseudo Bartter Syndrome: A Case Report.

Shah S et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2023

Amplifiers co-translationally enhance CFTR biosynthesis via PCBP1-mediated regulation of CFTR mRNA.

Dukovski D et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2020

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

Mechanisms of CFTR Folding at the Endoplasmic Reticulum.

Kim SJ et al.

Frontiers in Pharmacology, 2012

p97 functions as an auxiliary factor to facilitate TM domain extraction during CFTR ER-associated degradation.

Carlson EJ et al.

The Embo Journal, 2006

Co- and posttranslational translocation mechanisms direct cystic fibrosis transmembrane conductance regulator N terminus transmembrane assembly.

Lu Y et al.

The Journal of Biological Chemistry, 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."