Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.E329Q
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SLC2A1

NM_006516.4:p.E329Q

Associated Papers

Co-evolution of alpha-helical transmembrane protein residues: large-scale variant profiling and complete mutational landscape of 2277 known PDB entries representing 504 unique human protein sequences.

Karagöl T et al.

Journal of Molecular Evolution, 2025

40993375 (PubMed )
Supplement: 239_2025_10262_MOESM2_ESM.xlsx › Sheet1

Unsupervised learning reveals landscape of local structural motifs across protein classes.

Derry A et al.

Bioinformatics (oxford, England), 2025

40569048 (PubMed )
Supplement: btaf377_supplementary_data.zip › Supplementary_material_PDF.pdf

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

Mastrangelo M et al.

European Journal of Pediatrics, 2024

38954008 (PubMed )
Supplement: 431_2024_5657_MOESM2_ESM.xlsx › Valutazione_varianti

TXNIP-mediated crosstalk between oxidative stress and glucose metabolism.

Kim S et al.

Plos One, 2024

The role of salt bridge networks in the stability of the yeast hexose transporter 1.

Kim JH et al.

Biochimica Et Biophysica Acta. General Subjects, 2023

Structural comparison of GLUT1 to GLUT3 reveal transport regulation mechanism in sugar porter family.

Custódio TF et al.

Life Science Alliance, 2021

Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.

Raja M et al.

The Journal of Membrane Biology, 2020

New insights into GluT1 mechanics during glucose transfer.

Galochkina T et al.

Scientific Reports, 2019

Development of a rapid functional assay that predicts GLUT1 disease severity.

Zaman SM et al.

Neurology. Genetics, 2018

Genetic Analysis of Signal Generation by the Rgt2 Glucose Sensor of Saccharomyces cerevisiae.

Scharff-Poulsen P et al.

G3 (bethesda, Md.), 2018

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Molecular Dynamics Simulations of the Human Glucose Transporter GLUT1.

Park MS

Plos One, 2015

Crystal structure of the human glucose transporter GLUT1.

Deng D et al.

Nature, 2014

Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.

Ramm-Pettersen A et al.

Developmental Medicine and Child Neurology, 2013

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Leen WG et al.

Brain : a Journal of Neurology, 2010

Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.

Wang D et al.

Pediatric Research, 2008

Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function.

Schürmann A et al.

Biochemistry, 1997

Highlighting membrane protein structure and function: A celebration of the Protein Data Bank.

Li F et al.

The Journal of Biological Chemistry, 0

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