Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.I635V
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TSHR

NM_000369.5:p.I635V

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

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

Shared sporadic and somatic thyrotropin receptor mutations display more active in vitro activities than familial thyrotropin receptor mutations.

Lueblinghoff J et al.

Thyroid : Official Journal of the American Thyroid Association, 2011

Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.

Biebermann H et al.

Frontiers in Bioscience (landmark Edition), 2010

Identification and evaluation of constitutively active thyroid stimulating hormone receptor mutations.

Lado-Abeal J et al.

Methods in Enzymology, 2010

Identification and functional characterization of two novel activating thyrotropin receptor mutants in toxic thyroid follicular adenomas.

Castro I et al.

Thyroid : Official Journal of the American Thyroid Association, 2009

Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain.

Palos-Paz F et al.

European Journal of Endocrinology, 2008

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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."