Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.T620S
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TSHR

NM_000369.5:p.T620S

Associated Papers

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

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

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

Deletions in the third intracellular loop of the thyrotropin receptor. A new mechanism for constitutive activation.

Wonerow P et al.

The Journal of Biological Chemistry, 1998

Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules.

Führer D et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in Japan.

Takeshita A et al.

The Journal of Clinical Endocrinology and Metabolism, 1995

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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."