Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.G270R
Back to variants list

G6PC1

NM_000151.4:p.G270R

Associated Papers

The induced-fit and catalytic mechanisms of human G6PC1.

Chen Q et al.

Cell Discovery, 2025

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.

Lin SR et al.

Molecular Genetics and Metabolism, 2015

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

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."