Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.A241T
Back to variants list

G6PC1

NM_000151.4:p.A241T

Associated Papers

The induced-fit and catalytic mechanisms of human G6PC1.

Chen Q et al.

Cell Discovery, 2025

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

Chou JY et al.

Human Mutation, 2008

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

Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.

Trioche P et al.

Human Mutation, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."