Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.L677V
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TSHR

NM_000369.5:p.L677V

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

The Thyrotropin Receptor Mutation Database Update.

Stephenson A et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

The genetic evolution of metastatic uveal melanoma.

Shain AH et al.

Nature Genetics, 2019

31253977 (PubMed )
Supplement: NIHMS1529305-supplement-5.xlsx › Sheet1

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 › dbSNP

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

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

Tao YX

Pharmacology & Therapeutics, 2008

The TSH receptor and its role in thyroid disease.

Kopp P

Cellular and Molecular Life Sciences : Cmls, 2001

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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."