Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.I630L
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TSHR

NM_000369.5:p.I630L

Associated Papers

Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.

Andrianus S et al.

Diagnostic Cytopathology, 2023

Locally invasive classical papillary thyroid carcinoma with TSH receptor I568T mutation: case report.

Nguyen J et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

Role of tissue and circulating microRNAs and DNA as biomarkers in medullary thyroid cancer.

Chiacchiarini M et al.

Pharmacology & Therapeutics, 2021

Common activation mechanism of class A GPCRs.

Zhou Q et al.

Elife, 2019

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

Molecular Variants and Their Risks for Malignancy in Cytologically Indeterminate Thyroid Nodules.

Goldner WS et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted Sequencing.

Ciampi R et al.

Iscience, 2019

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.

Pagan M et al.

Bmc Bioinformatics, 2016

26818556 (PubMed )
Supplement: 12859_2015_849_MOESM5_ESM.pdf

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

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

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_MOESM2_ESM.docx

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

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

Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy.

Bertalan R et al.

Thyroid : Official Journal of the American Thyroid Association, 2010

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

Lado-Abeal J et al.

Methods in Enzymology, 2010

Cases of borderline in vitro constitutive thyrotropin receptor activity: how to decide whether a thyrotropin receptor mutation is constitutively active or not?

Mueller S et al.

Thyroid : Official Journal of the American Thyroid Association, 2009

Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain.

Palos-Paz F et al.

European Journal of Endocrinology, 2008

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

Tao YX

Pharmacology & Therapeutics, 2008

Mutations in the thyrotropin receptor signal transduction pathway in the hyperfunctioning thyroid nodules from multinodular goiters: a study in the Turkish population.

Gozu H et al.

Endocrine Journal, 2005

Two novel mutations in the sixth transmembrane segment of the thyrotropin receptor gene causing hyperfunctioning thyroid nodules.

Gozu H et al.

Thyroid : Official Journal of the American Thyroid Association, 2005

Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.

Shenker A

Receptors & Channels, 2002

The TSH receptor and its role in thyroid disease.

Kopp P

Cellular and Molecular Life Sciences : Cmls, 2001

Functional characterization of five constitutively activating thyrotrophin receptor mutations.

Wonerow P et al.

Clinical Endocrinology, 2000

Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma.

Tonacchera M et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters.

Holzapfel HP et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas.

Parma J et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

Constitutively activating mutations of the thyrotropin receptor and thyroid disease.

Führer D et al.

European Journal of Medical Research, 1996

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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."