Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.S202G
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PROKR2

NM_144773.4:p.S202G

Associated Papers

Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.

Stamou MI et al.

Human Genetics, 2025

Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease.

Lattanzi R et al.

Life (basel, Switzerland), 2024

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.

Wang X et al.

Human Molecular Genetics, 2023

Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.

Martinez-Mayer J et al.

Frontiers in Endocrinology, 2023

GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-Center Experience and Systematic Literature Review.

Patil VA et al.

Neuroendocrinology, 2022

Analysis of role of aromatic residues in extracellular loop 2 of Prokineticin receptor 2 in ligand binding probed with genetically encoded photo-crosslinkers.

Fullone MR et al.

Biochimica Et Biophysica Acta. Biomembranes, 2021

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Miraoui H et al.

American Journal of Human Genetics, 2013

Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.

McCabe MJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

PROK2/PROKR2 Signaling and Kallmann Syndrome.

Dodé C et al.

Frontiers in Endocrinology, 2013

G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

Expanding the phenotype and genotype of female GnRH deficiency.

Shaw ND et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism.

Abreu AP et al.

Neuroendocrinology, 2010

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.

Balasubramanian R et al.

Neuroendocrinology, 2010

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.

Raivio T et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."