Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.F631I
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TSHR

NM_000369.5:p.F631I

Associated Papers

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

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

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

The Thyrotropin Receptor Mutation Database Update.

Stephenson A et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

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

Jaeschke H et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

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

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents.

Eszlinger M et al.

Molecular and Cellular Endocrinology, 2014

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

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

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

Lado-Abeal J et al.

Methods in Enzymology, 2010

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

Tao YX

Pharmacology & Therapeutics, 2008

TSH signalling and cancer.

García-Jiménez C et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2007

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

A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism.

Nwosu BU et al.

Thyroid : Official Journal of the American Thyroid Association, 2006

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

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

Two somatic TSH receptor mutations in a patient with toxic metastasising follicular thyroid carcinoma and non-functional lung metastases.

Führer D et al.

Endocrine-related Cancer, 2003

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