Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.D633A
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TSHR

NM_000369.5:p.D633A

Associated Papers

Thyrotropin, Hyperthyroidism, and Bone Mass.

Kim SM et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene.

Cho WK et al.

Annals of Pediatric Endocrinology & Metabolism, 2018

Structure and activation of the TSH receptor transmembrane domain.

Núñez Miguel R et al.

Auto- Immunity Highlights, 2017

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

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

A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.

Kohn B et al.

Thyroid : Official Journal of the American Thyroid Association, 2009

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

Tao YX

Pharmacology & Therapeutics, 2008

GRIS: glycoprotein-hormone receptor information system.

Van Durme J et al.

Molecular Endocrinology (baltimore, Md.), 2006

Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).

Ringkananont U et al.

Molecular Endocrinology (baltimore, Md.), 2006

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

Role of cleavage and shedding in human thyrotropin receptor function and trafficking.

Quellari M et al.

European Journal of Biochemistry, 2003

Activation of the cAMP pathway by the TSH receptor involves switching of the ectodomain from a tethered inverse agonist to an agonist.

Vlaeminck-Guillem V et al.

Molecular Endocrinology (baltimore, Md.), 2002

A conserved Asn in transmembrane helix 7 is an on/off switch in the activation of the thyrotropin receptor.

Govaerts C et al.

The Journal of Biological Chemistry, 2001

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

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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."