Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A9
Variant:p.V744M
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SLC26A9

NM_052934.4:p.V744M

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

Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Andres EM et al.

Brain Sciences, 2021

35053791 (PubMed )
Supplement: brainsci-12-00047-s001.zip › brainsci-1490268_Tables_S1-7_Dec29-2021.xlsx › Table_S1._137variants

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

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S15

Characterization of SLC26A9 in patients with CF-like lung disease.

Bakouh N et al.

Human Mutation, 2013

Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9.

Chen AP et al.

Human Mutation, 2012

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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."