Varaico: Literature-Extracted Genetic Variants

Gene:MTNR1B
Variant:p.V124I
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MTNR1B

NM_005959.5:p.V124I

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

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva AV et al.

Bmc Medical Genomics, 2020

32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat4

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S9_CC-1_coding_SNVs

Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients.

Yang Z et al.

Brain & Development, 2016

[Genetic analysis and genes relating synaptic function for autism spectrum disorder].

Yamagata T et al.

No to Hattatsu = Brain and Development, 2014

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."