Varaico: Literature-Extracted Genetic Variants

Gene:G6PC2
Variant:p.Q16H
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G6PC2

NM_021176.3:p.Q16H

Associated Papers

Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose.

Overway EM et al.

The Journal of Biological Chemistry, 2022

Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression.

Boortz KA et al.

Plos One, 2016

Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction.

Edghill EL et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2009

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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."