Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.C176R
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SLC37A4

NM_001164277.2:p.C176R

Associated Papers

Structural insight into the glucose-6-phosphate transport by G6PT1 and inhibition mechanism of CGA.

Chen Q et al.

Science Advances, 2026

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

Zhou D et al.

Nature Structural & Molecular Biology, 2026

Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.

Wang Z et al.

The Journal of International Medical Research, 2023

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

The SLC37 family of sugar-phosphate/phosphate exchangers.

Chou JY et al.

Current Topics in Membranes, 2014

Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib.

Pan CJ et al.

Molecular Genetics and Metabolism, 2009

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

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

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

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."