Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.T255I
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G6PC1

NM_000151.4:p.T255I

Associated Papers

The induced-fit and catalytic mechanisms of human G6PC1.

Chen Q et al.

Cell Discovery, 2025

Structural insights into glucose-6-phosphate recognition and hydrolysis by human G6PC1.

Xia Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Integrative analysis of pathogenic variants in glucose-6-phosphatase based on an AlphaFold2 model.

Sinclair M et al.

Pnas Nexus, 2024

Molecular mechanisms of catalytic inhibition for active site mutations in glucose-6-phosphatase catalytic subunit 1 linked to glycogen storage disease.

Sinclair M et al.

Biorxiv : the Preprint Server for Biology, 2023

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Chou JY et al.

Human Mutation, 2008

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

Ki CS et al.

Clinical Genetics, 2004

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

Shieh JJ et al.

The Journal of Biological Chemistry, 2002

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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."