Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A9
Variant:p.L683P
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SLC26A9

NM_052934.4:p.L683P

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

The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation.

Luo S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

The role of the STAS domain in SLC26A9 for chloride ion transporter function.

Omori S et al.

Biophysical Journal, 2024

38773769 (PubMed )
Supplement: mmc3.pdf

Functional studies of deafness-associated pendrin and prestin variants.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

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

Balázs A et al.

Frontiers in Pharmacology, 2018

CFTR channel in oocytes from Xenopus laevis and its regulation by xShroom1 protein.

Palma AG et al.

Pflugers Archiv : European Journal of Physiology, 2016

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

STAS domain structure and function.

Sharma AK et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011

The SLC26 gene family of anion transporters and channels.

Alper SL et al.

Molecular Aspects of Medicine, 0

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