Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.C672W
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TSHR

NM_000369.5:p.C672W

Associated Papers

Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.

Yamichannaiah C et al.

Clinical Endocrinology, 2025

Severe Phenotype of De Novo TSHR Activating Pathogenic Variants.

Torrey AC et al.

Case Reports in Endocrinology, 2025

The Thyrotropin Receptor Mutation Database Update.

Stephenson A et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation.

Oliver-Petit I et al.

Clinical Case Reports, 2017

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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."