Varaico: Literature-Extracted Genetic Variants

Gene:GIPR
Variant:p.E354Q
Back to variants list

GIPR

NM_000164.4:p.E354Q

Associated Papers

Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.

Abner E et al.

Nature Communications, 2025

41062462 (PubMed )
Supplement: 41467_2025_64006_MOESM6_ESM.xlsx › Figure1a

Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific Expression.

Bernardino Garcia CA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

G protein-coupled receptor (GPCR) pharmacogenomics.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Obesity Variants in the GIPR Gene Are not Associated With Risk of Fracture or Bone Mineral Density.

Styrkarsdottir U et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Characterization of genetic variants of GIPR reveals a contribution of β-arrestin to metabolic phenotypes.

Kizilkaya HS et al.

Nature Metabolism, 2024

An integrative framework to prioritize genes in more than 500 loci associated with body mass index.

Hemerich D et al.

American Journal of Human Genetics, 2024

38754426 (PubMed )
Supplement: mmc2.xlsx › Table_S3

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Genetically proxied impaired GIPR signaling and risk of 6 cancers.

Rogers M et al.

Iscience, 2023

GIPR rs10423928 and bone mineral density in postmenopausal women in Shanghai.

Zhang L et al.

Endocrine Connections, 2022

Genetically Predicted Glucose-Dependent Insulinotropic Polypeptide (GIP) Levels and Cardiovascular Disease Risk Are Driven by Distinct Causal Variants in the GIPR Region.

Bowker N et al.

Diabetes, 2021

Functional Characterization of the Obesity-Linked Variant of the β3-Adrenergic Receptor.

Haji E et al.

International Journal of Molecular Sciences, 2021

Loss of Function Glucose-Dependent Insulinotropic Polypeptide Receptor Variants Are Associated With Alterations in BMI, Bone Strength and Cardiovascular Outcomes.

Kizilkaya HS et al.

Frontiers in Cell and Developmental Biology, 2021

Enhanced agonist residence time, internalization rate and signalling of the GIP receptor variant [E354Q] facilitate receptor desensitization and long-term impairment of the GIP system.

Gabe MBN et al.

Basic & Clinical Pharmacology & Toxicology, 2020

Molecular interactions of full-length and truncated GIP peptides with the GIP receptor - A comprehensive review.

Gabe MBN et al.

Peptides, 2020

Evaluation of a rare glucose-dependent insulinotropic polypeptide receptor variant in a patient with diabetes.

Jacobi SF et al.

Diabetes, Obesity & Metabolism, 2019

The role of GPCRs in bone diseases and dysfunctions.

Luo J et al.

Bone Research, 2019

[The role of single nucleotide polymorphisms in GIPR gene in the changes of secretion in hormones and adipokines in patients with obesity with type 2 diabetes].

Skuratovskaia DA et al.

Biomeditsinskaia Khimiia, 2018

Genetic Variability of the Glucose-Dependent Insulinotropic Peptide Gene Is Involved in the Premature Coronary Artery Disease in a Chinese Population with Type 2 Diabetes.

Ma X et al.

Journal of Diabetes Research, 2018

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11

Association of incretin receptors genetic polymorphisms with type 2 diabetes mellitus in Egyptian patients.

Shalaby SM et al.

The Journal of Gene Medicine, 2017

Glucose-dependent insulinotropic polypeptide (GIP) and GIP receptor (GIPR) genes: An association analysis of polymorphisms and bone in young and elderly women.

Garg G et al.

Bone Reports, 2016

Searching for the physiological role of glucose-dependent insulinotropic polypeptide.

Holst JJ et al.

Journal of Diabetes Investigation, 2016

The COL1A1 SP1 polymorphism is associated with lower bone mineral density in patients treated with valproic acid.

Villegas-Martínez I et al.

Pharmacogenetics and Genomics, 2016

Genetic studies of body mass index yield new insights for obesity biology.

Locke AE et al.

Nature, 2015

A naturally occurring GIP receptor variant undergoes enhanced agonist-induced desensitization, which impairs GIP control of adipose insulin sensitivity.

Mohammad S et al.

Molecular and Cellular Biology, 2014

A functional amino acid substitution in the glucose-dependent insulinotropic polypeptide receptor (GIPR) gene is associated with lower bone mineral density and increased fracture risk.

Torekov SS et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Association of genetic variants of the incretin-related genes with quantitative traits and occurrence of type 2 diabetes in Japanese.

Enya M et al.

Molecular Genetics and Metabolism Reports, 2014

Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.

Duan J et al.

Scientific Reports, 2013

23422947 (PubMed )
Supplement: srep01318-s2.xls › S7

Pleiotropic effects of GIP on islet function involve osteopontin.

Lyssenko V et al.

Diabetes, 2011

Physiologic characterization of type 2 diabetes-related loci.

Grarup N et al.

Current Diabetes Reports, 2010

Genetic variants affecting incretin sensitivity and incretin secretion.

Müssig K et al.

Diabetologia, 2010

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Speliotes EK et al.

Nature Genetics, 2010

Association of variants in gastric inhibitory polypeptide receptor gene with impaired glucose homeostasis in obese children and adolescents from Berlin.

Sauber J et al.

European Journal of Endocrinology, 2010

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.

Saxena R et al.

Nature Genetics, 2010

Pharmacological characterization of human incretin receptor missense variants.

Fortin JP et al.

The Journal of Pharmacology and Experimental Therapeutics, 2010

Gastric inhibitory polypeptide receptor: association analyses for obesity of several polymorphisms in large study groups.

Vogel CI et al.

Bmc Medical Genetics, 2009

1–50 of 55 papers
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."