Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.T620I
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TSHR

NM_000369.5:p.T620I

Associated Papers

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

Nguyen J et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

Hyperfunctioning Papillary Thyroid Carcinoma with a BRAF Mutation: The First Case Report and a Literature Review.

Shinkai S et al.

European Thyroid Journal, 2021

The Thyrotropin Receptor Mutation Database Update.

Stephenson A et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

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

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

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 of a paired box gene 8-peroxisome proliferator-activated receptor gamma (PAX8-PPARgamma) rearrangement mosaicism in a patient with an autonomous functioning follicular thyroid carcinoma bearing an activating mutation in the TSH receptor.

Lado-Abeal J et al.

Endocrine-related Cancer, 2010

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

Lado-Abeal J et al.

Methods in Enzymology, 2010

Fatal outcome of a young woman with papillary thyroid carcinoma and graves' disease: possible implication of "cross-signalling" mechanism.

Cross GA et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 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

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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."