Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.D474E
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TSHR

NM_000369.5:p.D474E

Associated Papers

Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism.

Kara C et al.

European Thyroid Journal, 2023

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.

Cangul H et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

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

Aspartate-474 in the first exoplasmic loop of the thyrotropin receptor is crucial for receptor activation.

Kosugi S et al.

Febs Letters, 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."