Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.N431I
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FSHR

NM_000145.4:p.N431I

Associated Papers

Mechanism of hormone and allosteric agonist mediated activation of follicle stimulating hormone receptor.

Duan J et al.

Nature Communications, 2023

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

Extracellular loop 3 substitutions K589N and A590S in FSH receptor increase FSH-induced receptor internalization and along with S588T substitution exhibit impaired ERK1/2 phosphorylation.

Banerjee AA et al.

Archives of Biochemistry and Biophysics, 2018

Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.

Ulloa-Aguirre A et al.

Handbook of Experimental Pharmacology, 2018

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Normal testicular function without detectable follicle-stimulating hormone. A novel mutation in the follicle-stimulating hormone receptor gene leading to apparent constitutive activity and impaired agonist-induced desensitization and internalization.

Casas-González P et al.

Molecular and Cellular Endocrinology, 2012

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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."