Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.A593P
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TSHR

NM_000369.5:p.A593P

Associated Papers

Pharmacoperone drugs: targeting misfolded proteins causing lysosomal storage-, ion channels-, and G protein-coupled receptors-associated conformational disorders.

Hou ZS et al.

Expert Review of Clinical Pharmacology, 2018

Structure and activation of the TSH receptor transmembrane domain.

Núñez Miguel R et al.

Auto- Immunity Highlights, 2017

Loss-of-Function Mutations in the Human Luteinizing Hormone Receptor Predominantly Cause Intracellular Retention.

Newton CL et al.

Endocrinology, 2016

Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.

Ulloa-Aguirre A et al.

Molecular and Cellular Endocrinology, 2014

From molecular details of the interplay between transmembrane helices of the thyrotropin receptor to general aspects of signal transduction in family a G-protein-coupled receptors (GPCRs).

Kleinau G et al.

The Journal of Biological Chemistry, 2011

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.

Chan WY

Molecular Genetics and Metabolism, 1998

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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."