Varaico: Literature-Extracted Genetic Variants

Gene:G6PC2
Variant:p.H177Y
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G6PC2

NM_021176.3:p.H177Y

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program.

DiCorpo D et al.

Communications Biology, 2022

35902682 (PubMed )
Supplement: 42003_2022_3702_MOESM1_ESM.pdf

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

Glucose metabolism-related gene polymorphisms as the risk predictors of type 2 diabetes.

Li C et al.

Diabetology & Metabolic Syndrome, 2020

The Genetic Basis of Metabolic Disease.

Barroso I et al.

Cell, 2019

Susceptibility to type 2 diabetes may be modulated by haplotypes in G6PC2, a target of positive selection.

Al-Daghri NM et al.

Bmc Evolutionary Biology, 2017

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

Recent advances in understanding the genetic architecture of type 2 diabetes.

Mohlke KL et al.

Human Molecular Genetics, 2015

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation.

Horikoshi M et al.

Plos Genetics, 2015

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

Wessel J et al.

Nature Communications, 2015

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

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Service SK et al.

Plos Genetics, 2014

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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."