Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.M626I
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TSHR

NM_000369.5:p.M626I

Associated Papers

Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.

Yamichannaiah C et al.

Clinical Endocrinology, 2025

Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.

Suput Omladic J et al.

Medicina (kaunas, Lithuania), 2021

Sensitive Sequencing Analysis Suggests Thyrotropin Receptor and Guanine Nucleotide-Binding Protein G Subunit Alpha as Sole Driver Mutations in Hot Thyroid Nodules.

Stephenson A et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

Common activation mechanism of class A GPCRs.

Zhou Q et al.

Elife, 2019

31855179 (PubMed )
Supplement: elife-50279-fig7-data1.xlsx › Sheet1

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.

Jaeschke H et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.

Larsen CC et al.

International Journal of Pediatric Endocrinology, 2014

25873976 (PubMed )
Supplement: 13633_2014_366_MOESM1_ESM.docx

Mechanism of inverse agonist action of sarpogrelate at the constitutively active mutant of human 5-HT2A receptor revealed by molecular modeling.

Hossain M et al.

Biological & Pharmaceutical Bulletin, 2012

Prolonged inappropriate TSH suppression during hypothyroidism after thyroid ablation in a patient with nonautoimmune familial hyperthyroidism.

Jaeschke H et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2011

Shared sporadic and somatic thyrotropin receptor mutations display more active in vitro activities than familial thyrotropin receptor mutations.

Lueblinghoff J et al.

Thyroid : Official Journal of the American Thyroid Association, 2011

Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.

Hébrant A et al.

European Journal of Endocrinology, 2011

Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism.

Gozu HI et al.

Molecular and Cellular Endocrinology, 2010

Identification and evaluation of constitutively active thyroid stimulating hormone receptor mutations.

Lado-Abeal J et al.

Methods in Enzymology, 2010

Thyroid gene expression in familial nonautoimmune hyperthyroidism shows common characteristics with hyperfunctioning autonomous adenomas.

Hébrant A et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.

Tao YX

Pharmacology & Therapeutics, 2008

Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.

Chester J et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008

TSH signalling and cancer.

García-Jiménez C et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2007

GRIS: glycoprotein-hormone receptor information system.

Van Durme J et al.

Molecular Endocrinology (baltimore, Md.), 2006

Single amino acid residue determinants of non-peptide antagonist binding to the corticotropin-releasing factor1 (CRF1) receptor.

Hoare SR et al.

Biochemical Pharmacology, 2006

Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).

Ringkananont U et al.

Molecular Endocrinology (baltimore, Md.), 2006

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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."