Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.Q295R
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SLC5A1

NM_000343.4:p.Q295R

Associated Papers

A new link between insulinoma and congenital glucose-galactose malabsorption.

Prinzi A et al.

Endocrine Oncology (bristol, England), 2025

Structural insights into genetic variants of Na(+)/glucose cotransporter SGLT1 causing glucose-galactose malabsorption: vSGLT as a model structure.

Raja M et al.

Cell Biochemistry and Biophysics, 2012

Molecular basis for glucose-galactose malabsorption.

Wright EM et al.

Cell Biochemistry and Biophysics, 2002

Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.

Lam JT et al.

Biochimica Et Biophysica Acta, 1999

Neutralization of conservative charged transmembrane residues in the Na+/glucose cotransporter SGLT1.

Panayotova-Heiermann M et al.

Biochemistry, 1998

The Molecular Physiology of Sodium- and Proton-Coupled Solute Transporters.

Steel A et al.

News in Physiological Sciences : an International Journal of Physiology Produced Jointly by the International Union of Physiological Sciences and the American Physiological Society, 1998

Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.

Martín MG et al.

Nature Genetics, 1996

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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."