Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.S281T
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TSHR

NM_000369.5:p.S281T

Associated Papers

Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.

Andrianus S et al.

Diagnostic Cytopathology, 2023

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Two rare TSH receptor amino acid substitutions in toxic thyroid adenomas.

Nanba K et al.

Endocrine Journal, 2012

Defining structural and functional dimensions of the extracellular thyrotropin receptor region.

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

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

Lado-Abeal J et al.

Methods in Enzymology, 2010

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

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

Tao YX

Pharmacology & Therapeutics, 2008

An aromatic environment in the vicinity of serine 281 is a structural requirement for thyrotropin receptor function.

Jaeschke H et al.

Endocrinology, 2006

Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.

Matsushima N et al.

Cellular and Molecular Life Sciences : Cmls, 2005

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

Effects of mutations involving the highly conserved S281HCC motif in the extracellular domain of the thyrotropin (TSH) receptor on TSH binding and constitutive activity.

Ho SC et al.

Endocrinology, 2001

Alterations of neonatal thyroid function.

Grüters A et al.

Acta Paediatrica (oslo, Norway : 1992). Supplement, 1999

[Disorders caused by mutations of the thyrotropin receptor].

Kosugi S

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998

Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas.

Parma J et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

Constitutive activation of the TSH receptor by spontaneous mutations affecting the N-terminal extracellular domain.

Duprez L et al.

Febs Letters, 1997

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