Varaico: Literature-Extracted Genetic Variants

Gene:MTNR1B
Variant:p.K243R
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MTNR1B

NM_005959.5:p.K243R

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

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

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

Mutation screening of melatonin-related genes in patients with autism spectrum disorders.

Jonsson L et al.

Bmc Medical Genomics, 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."