Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A9
Variant:p.V622L
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SLC26A9

NM_052934.4:p.V622L

Associated Papers

Disorder within order: Identification of the disordered loop of STAS domain as the inhibitory domain in SLC26A9 chloride channel.

Chen AP et al.

The Journal of Biological Chemistry, 2025

Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.

Calvete O et al.

Cells, 2021

34944008 (PubMed )
Supplement: cells-10-03500-s001.zip › Supplemental_Table_S2.pdf

SLC26A9 Gene Is Associated With Lung Function Response to Ivacaftor in Patients With Cystic Fibrosis.

Corvol H et al.

Frontiers in Pharmacology, 2018

Role of the SLC26A9 Chloride Channel as Disease Modifier and Potential Therapeutic Target in Cystic Fibrosis.

Balázs A et al.

Frontiers in Pharmacology, 2018

Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.

Rapp C et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9.

Chen AP et al.

Human Mutation, 2012

Characterization of the L683P mutation of SLC26A9 in Xenopus oocytes.

Avella M et al.

Biochimica Et Biophysica Acta, 2011

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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."