Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.L512R
Back to variants list

TSHR

NM_000369.5:p.L512R

Associated Papers

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

Andrianus S et al.

Diagnostic Cytopathology, 2023

TSH-β gene polymorphism in Saudi patients with thyroid cancer: A case-control study.

AlRasheed MM

Saudi Pharmaceutical Journal : Spj : the Official Publication of the Saudi Pharmaceutical Society, 2022

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

Nguyen J et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

The Thyrotropin Receptor Mutation Database Update.

Stephenson A et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

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

Analytical and Clinical Validation of Expressed Variants and Fusions From the Whole Transcriptome of Thyroid FNA Samples.

Angell TE et al.

Frontiers in Endocrinology, 2019

Hyperthyroidism and Papillary Thyroid Carcinoma in Thyrotropin Receptor D633H Mutant Mice.

Jaeschke H et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

Clinical Significance of Thyroid-Stimulating Hormone Receptor Gene Mutations and/or Sodium-Iodine Symporter Gene Overexpression in Indeterminate Thyroid Fine Needle Biopsies.

Guan H et al.

Frontiers in Endocrinology, 2018

Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism.

Roberts SA et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017

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

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

Lack of in vitro constitutive activity for four previously reported TSH receptor mutations identified in patients with nonautoimmune hyperthyroidism and hot thyroid carcinomas.

Jaeschke H et al.

Clinical Endocrinology, 2010

Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.

Biebermann H et al.

Frontiers in Bioscience (landmark Edition), 2010

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

Lado-Abeal J et al.

Methods in Enzymology, 2010

Prevalence of TSH receptor and Gsalpha mutations in 45 autonomously functioning thyroid nodules in Japan.

Nishihara E et al.

Endocrine Journal, 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

Similar prevalence of somatic TSH receptor and Gsalpha mutations in toxic thyroid nodules in geographical regions with different iodine supply in Turkey.

Gozu HI et al.

European Journal of Endocrinology, 2006

Follicular carcinoma presenting as autonomous functioning thyroid nodule and containing an activating mutation of the TSH receptor (T620I) and a mutation of the Ki-RAS (G12C) genes.

Niepomniszcze H et al.

Thyroid : Official Journal of the American Thyroid Association, 2006

TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.

Karges B et al.

The Journal of Endocrinology, 2005

Does a Leu 512 Arg thyrotropin receptor mutation cause an autonomously functioning papillary carcinoma?

Gozu H et al.

Thyroid : Official Journal of the American Thyroid Association, 2004

Oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in the Japanese population.

Vanvooren V et al.

European Journal of Endocrinology, 2002

Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.

Shenker A

Receptors & Channels, 2002

Detection of thyroid-stimulating hormone receptor and Gsalpha mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis.

Trülzsch B et al.

Journal of Molecular Medicine (berlin, Germany), 2001

A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient.

Kosugi S et al.

European Journal of Endocrinology, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."