Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.E354Q
Back to variants list

EHMT1

NM_024757.5:p.E354Q

Associated Papers

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

Kizilkaya HS et al.

Nature Metabolism, 2024

38871982 (PubMed )
Supplement: 42255_2024_1061_MOESM11_ESM.xlsx › ED_Fig._1a-b

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 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

Pharmacological characterization of human incretin receptor missense variants.

Fortin JP et al.

The Journal of Pharmacology and Experimental Therapeutics, 2010

Typical Danish Caucasian type 2 diabetic patients do not commonly carry genetic variants in GIP and GLP-1 encoding regions of the proGIP and proglucagon genes.

Ørskov C et al.

Regulatory Peptides, 2004

Discovery of amino acid variants in the human glucose-dependent insulinotropic polypeptide (GIP) receptor: the impact on the pancreatic beta cell responses and functional expression studies in Chinese hamster fibroblast cells.

Almind K et al.

Diabetologia, 1998

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."