Varaico: Literature-Extracted Genetic Variants

Gene:MTNR1B
Variant:p.R316H
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MTNR1B

NM_005959.5:p.R316H

Associated Papers

Rare MTNR1B variants causing diminished MT2 signalling associate with elevated HbA1c levels but not with type 2 diabetes.

Sørensen KV et al.

Diabetologia, 2025

Structural Elements Directing G Proteins and β-Arrestin Interactions with the Human Melatonin Type 2 Receptor Revealed by Natural Variants.

Plouffe B et al.

Acs Pharmacology & Translational Science, 2022

Type 2 diabetes-associated variants of the MT2 melatonin receptor affect distinct modes of signaling.

Karamitri A et al.

Science Signaling, 2018

High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias.

Waterfall JJ et al.

Nature Genetics, 2014

24241536 (PubMed )
Supplement: NIHMS533714-supplement-2.xls › allNovelNotinCleanNormalsProtAl

Minireview: Toward the establishment of a link between melatonin and glucose homeostasis: association of melatonin MT2 receptor variants with type 2 diabetes.

Karamitri A et al.

Molecular Endocrinology (baltimore, Md.), 2013

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes.

Bonnefond A et al.

Nature Genetics, 2012

[Involvement of melatonin MT2 receptor mutants in type 2 diabetes development].

Karamitri A et al.

Medecine Sciences : M/s, 0

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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."