Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.G376S
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SLC37A4

NM_001164277.2:p.G376S

Associated Papers

Structures of human glucose-6-phosphate transporter reveal reciprocal antiport mechanism driving glucose-6-phosphate and inorganic phosphate exchange.

Wang Q et al.

Nature Communications, 2025

41381426 (PubMed )
Supplement: 41467_2025_66386_MOESM1_ESM.pdf

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

Xia Z et al.

Nature Communications, 2025

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

Chou JY et al.

Journal of Inherited Metabolic Disease, 2018

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

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

The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic.

Chen SY et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

Melis D et al.

European Journal of Pediatrics, 2005

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

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Veiga-da-Cunha M et al.

European Journal of Human Genetics : Ejhg, 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."