Varaico: Literature-Extracted Genetic Variants

Gene:MTNR1B
Variant:p.R231H
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MTNR1B

NM_005959.5:p.R231H

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

40064676 (PubMed )
Supplement: 125_2025_6381_MOESM1_ESM.xlsx › ESM_Table_1

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Fagius J et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023

37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants

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

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

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

Karamitri A et al.

Science Signaling, 2018

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

Bonnefond A et al.

Nature Genetics, 2012

Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.

Chaste P et al.

Plos One, 2010

MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans.

Andersson EA et al.

Diabetes, 2010

[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."