Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.V15F
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SI

NM_001041.4:p.V15F

Associated Papers

Correction: Congenital sucrase-isomaltase mutations worsen IBS-linked V15F dysfunction and trafficking.

Unknown Author

Gut, 2026

The Associations of Sucrase-Isomaltase Hypomorphic Variants With Long-Term Outcomes and Dietary Intake in an Australian Irritable Bowel Syndrome Population Educated on the FODMAP Diet: A Cross-Sectional and Retrospective Study.

Silva H et al.

United European Gastroenterology Journal, 2026

Congenital sucrase-isomaltase mutations worsen IBS-linked V15F dysfunction and trafficking.

Tannous S et al.

Gut, 2025

Sucrase-isomaltase hypomorphic variant Val15Phe affects the response to a sucrose challenge test in patients with IBS.

Zamfir-Taranu A et al.

Gut, 2025

43 G > T polymorphism in the sucrase-isomaltase gene in the Chinese population prevents the glucose-lowering effect of acarbose.

Huang J et al.

Clinical Biochemistry, 2025

Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients.

Zamfir-Taranu A et al.

Gut, 2024

Adult sucrase-isomaltase deficiency masquerading as IBS.

Foley A et al.

Gut, 2022

Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders.

Deb C et al.

Journal of Pediatric Gastroenterology and Nutrition, 2021

Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.

Zhou J et al.

Frontiers in Pediatrics, 2021

34926337 (PubMed )
Supplement: Table_1.xls › Sheet1

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.

Husein DM et al.

Nutrients, 2020

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.

Henström M et al.

Gut, 2018

The clinical consequences of sucrase-isomaltase deficiency.

Cohen SA

Molecular and Cellular Pediatrics, 2016

Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.

Sander P et al.

Human Mutation, 2006

Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum.

Ritz V et al.

Gastroenterology, 2003

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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."