Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A2
Variant:p.P417R
Back to variants list

SLC2A2

NM_000340.2:p.P417R

Associated Papers

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.

Grünert SC et al.

Genes, 2021

Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.

Sharari S et al.

International Journal of Molecular Sciences, 2020

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development.

Michau A et al.

The Journal of Biological Chemistry, 2013

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

Grünert SC et al.

Molecular Genetics and Metabolism, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."