Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.Q133P
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SLC37A4

NM_001164277.2:p.Q133P

Associated Papers

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

Chen Q et al.

Science Advances, 2026

A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.

Xu Q et al.

Molecular Genetics & Genomic Medicine, 2021

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII

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

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

The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate.

Pan CJ et al.

Human Genetics, 2003

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

The SLC37 family of phosphate-linked sugar phosphate antiporters.

Chou JY et al.

Molecular Aspects of Medicine, 0

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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."