Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.N674D
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TSHR

NM_000369.5:p.N674D

Associated Papers

GRIS: glycoprotein-hormone receptor information system.

Van Durme J et al.

Molecular Endocrinology (baltimore, Md.), 2006

A free carboxylate oxygen in the side chain of position 674 in transmembrane domain 7 is necessary for TSH receptor activation.

Neumann S et al.

Molecular Endocrinology (baltimore, Md.), 2001

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

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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."