Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E504Q
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CFTR

NM_000492.4:p.E504Q

Associated Papers

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

Structural Insights into the Catalytic Cycle of a Bacterial Multidrug ABC Efflux Pump.

Javed W et al.

Journal of Molecular Biology, 2022

The conserved glutamate residue adjacent to the Walker-B motif is the catalytic base for ATP hydrolysis in the ATP-binding cassette transporter BmrA.

Orelle C et al.

The Journal of Biological Chemistry, 2003

Functional domain analysis of the yeast ABC transporter Ycf1p by site-directed mutagenesis.

Falcón-Pérez JM et al.

The Journal of Biological Chemistry, 1999

Frontiers in research on cystic fibrosis: understanding its molecular and chemical basis and relationship to the pathogenesis of the disease.

Ko YH et al.

Journal of Bioenergetics and Biomembranes, 1997

Modeling of nucleotide binding domains of ABC transporter proteins based on a F1-ATPase/recA topology: structural model of the nucleotide binding domains of the cystic fibrosis transmembrane conductance regulator (CFTR).

Bianchet MA et al.

Journal of Bioenergetics and Biomembranes, 1997

Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.

Verlingue C et al.

Human Mutation, 1995

Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation.

Angelicheva D et al.

Human Mutation, 1994

Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.

Ivaschenko TE et al.

Human Genetics, 1993

Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future.

Baranov VS

Journal of Medical Genetics, 1993

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

Tsui LC

Human Mutation, 1992

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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."