Varaico: Literature-Extracted Genetic Variants

Gene:G6PC2
Variant:p.Y207S
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G6PC2

NM_021176.3:p.Y207S

Associated Papers

Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.

Willems SM et al.

Wellcome Open Research, 2023

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

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM et al.

Bmc Medical Genetics, 2016

28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

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

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

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction.

Bonnefond A et al.

Diabetologia, 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."