Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.T632A
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TSHR

NM_000369.5:p.T632A

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

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

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

Jaeschke H et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

Cancer risk and clinicopathological characteristics of thyroid nodules harboring thyroid-stimulating hormone receptor gene mutations.

Mon SY et al.

Diagnostic Cytopathology, 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

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

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

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

Nishihara E et al.

Endocrine Journal, 2009

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

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

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 thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter.

Tonacchera M et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Genetic analysis of the TSH receptor gene in differentiated human thyroid carcinomas.

Cetani F et al.

Journal of Endocrinological Investigation, 1999

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