Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.I640V
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TSHR

NM_000369.5:p.I640V

Associated Papers

Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.

Yamichannaiah C et al.

Clinical Endocrinology, 2025

Familial Nonautoimmune Hyperthyroidism Due to a TSH Receptor Gene Pathogenic Variant.

Takahashi S et al.

Jcem Case Reports, 2024

Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.

Makkonen K et al.

Jci Insight, 2024

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab3

Cancer risk and clinicopathological characteristics of thyroid nodules harboring thyroid-stimulating hormone receptor gene mutations.

Mon SY et al.

Diagnostic Cytopathology, 2018

Signaling-sensitive amino acids surround the allosteric ligand binding site of the thyrotropin receptor.

Kleinau G et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010

Contacts between extracellular loop two and transmembrane helix six determine basal activity of the thyroid-stimulating hormone receptor.

Kleinau G et al.

The Journal of Biological Chemistry, 2007

[Malignant hyperthermia (MH)].

Hata T

Ryoikibetsu Shokogun Shirizu, 1996

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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."