Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.M512I
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FSHR

NM_000145.4:p.M512I

Associated Papers

The Impact of FSHR Mutations on Female Ovarian Function and Pregnancy Outcomes: A Systematic Review.

Qu Z et al.

Biology of Reproduction, 2025

Functional Divergence for N-Linked Glycosylation Sites in Equine Lutropin/Choriogonadotropin Receptors.

Byambaragchaa M et al.

Current Issues in Molecular Biology, 2025

The N-Linked Glycosylation Site N201 in eel Lutropin/Choriogonadotropin Receptor Is Uniquely Indispensable for cAMP Responsiveness and Receptor Surface Loss, but Not pERK1/2 Activity.

Byambaragchaa M et al.

Current Issues in Molecular Biology, 2025

The N-Linked Glycosylation Asn191 and Asn199 Sites Are Controlled Differently Between PKA Signal Transduction and pEKR1/2 Activity in Equine Follicle-Stimulating Hormone Receptor.

Kim SH et al.

Current Issues in Molecular Biology, 2025

Rescue of Cell Surface Expression and Signaling of Mutant Follicle-Stimulating Hormone Receptors.

Hanyroup S et al.

Endocrinology, 2021

Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.

Ulloa-Aguirre A et al.

International Journal of Molecular Sciences, 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

First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome.

Hugon-Rodin J et al.

Bmc Medical Genetics, 2017

Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome.

Uchida S et al.

Plos One, 2013

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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."