Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.C355S
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SLC5A1

NM_000343.4:p.C355S

Associated Papers

Structure and mechanism of the SGLT family of glucose transporters.

Han L et al.

Nature, 2022

Structural basis of inhibition of the human SGLT2-MAP17 glucose transporter.

Niu Y et al.

Nature, 2022

The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree.

Lostao MP et al.

Function (oxford, England), 2021

Identification of a disulfide bridge linking the fourth and the seventh extracellular loops of the Na+/glucose cotransporter.

Gagnon DG et al.

The Journal of General Physiology, 2006

Cys351 and Cys361 of the Na+/glucose cotransporter are important for both function and cell-surface expression.

Xia X et al.

Archives of Biochemistry and Biophysics, 2005

Intestinal absorption in health and disease--sugars.

Wright EM et al.

Best Practice & Research. Clinical Gastroenterology, 2003

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

I. Glucose galactose malabsorption.

Wright EM

The American Journal of Physiology, 1998

Compound missense mutations in the sodium/D-glucose cotransporter result in trafficking defects.

Martín MG et al.

Gastroenterology, 1997

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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."