Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.Y601F
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TSHR

NM_000369.5:p.Y601F

Associated Papers

Sensitive Sequencing Analysis Suggests Thyrotropin Receptor and Guanine Nucleotide-Binding Protein G Subunit Alpha as Sole Driver Mutations in Hot Thyroid Nodules.

Stephenson A et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

Molecular and structural effects of inverse agonistic mutations on signaling of the thyrotropin receptor--a basally active GPCR.

Kleinau G et al.

Cellular and Molecular Life Sciences : Cmls, 2008

Substitutions of tyrosine 601 in the human thyrotropin receptor result in increase or loss of basal activation of the cyclic adenosine monophosphate pathway and disrupt coupling to Gq/11.

Arseven OK et al.

Thyroid : Official Journal of the American Thyroid Association, 2000

A conserved tyrosine residue (Y601) in transmembrane domain 5 of the human thyrotropin receptor serves as a molecular switch to determine G-protein coupling.

Biebermann H et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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."