Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.G150R
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SLC37A4

NM_001164277.2:p.G150R

Associated Papers

Structural basis of G6P/Pi transport and inhibition in SLC37A4.

Zhou D et al.

Nature Structural & Molecular Biology, 2026

Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.

Xia Z et al.

Nature Communications, 2025

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.

Kong SW et al.

Npj Genomic Medicine, 2025

40021654 (PubMed )
Supplement: 41525_2025_480_MOESM1_ESM.pdf

Molecular biology and gene therapy for glycogen storage disease type Ib.

Chou JY et al.

Journal of Inherited Metabolic Disease, 2018

Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.

Chen SY et al.

Molecular Genetics and Metabolism, 2008

Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.

Almqvist J et al.

Biochemistry, 2004

Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

Chen LY et al.

Human Molecular Genetics, 2002

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Matern D et al.

European Journal of Pediatrics, 2002

Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.

Chen LY et al.

The Journal of Biological Chemistry, 2000

Transmembrane topology of human glucose 6-phosphate transporter.

Pan CJ et al.

The Journal of Biological Chemistry, 1999

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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."