Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.I486F
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LHCGR

NM_000233.4:p.I486F

Associated Papers

The hinge region of human thyroid-stimulating hormone (TSH) receptor operates as a tunable switch between hormone binding and receptor activation.

Majumdar R et al.

Plos One, 2012

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

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

Tao YX

Pharmacology & Therapeutics, 2008

Interactions between the extracellular domain and the extracellular loops as well as the 6th transmembrane domain are necessary for TSH receptor activation.

Neumann S et al.

European Journal of Endocrinology, 2005

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."