Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.L665V
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TSHR

NM_000369.5:p.L665V

Associated Papers

Structure and activation of the TSH receptor transmembrane domain.

Núñez Miguel R et al.

Auto- Immunity Highlights, 2017

A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.

Jaeschke H et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Mutations that silence constitutive signaling activity in the allosteric ligand-binding site of the thyrotropin receptor.

Haas AK et al.

Cellular and Molecular Life Sciences : Cmls, 2011

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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."