Varaico: Literature-Extracted Genetic Variants

Gene:G6PC2
Variant:p.S30F
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G6PC2

NM_021176.3:p.S30F

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

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

Yalçıntepe S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

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

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Wessel J et al.

Nature Communications, 2015

25631608 (PubMed )
Supplement: ncomms6897-s1.pdf

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.

Mahajan A et al.

Plos Genetics, 2015

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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."