Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.R248W
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PROKR2

NM_144773.4:p.R248W

Associated Papers

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

Lattanzi R et al.

Life (basel, Switzerland), 2024

PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

Kardelen AD et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.

Martinez-Mayer J et al.

Frontiers in Endocrinology, 2023

Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.

Hu B et al.

Frontiers in Oncology, 2021

34434896 (PubMed )
Supplement: DataSheet_2.xlsx › S3

Genetic causes of isolated and combined pituitary hormone deficiency.

Giordano M

Best Practice & Research. Clinical Endocrinology & Metabolism, 2016

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.

Asakura Y et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2015

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.

Goh G et al.

Nature Genetics, 2014

24747643 (PubMed )
Supplement: NIHMS577752-supplement-1.pdf
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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."