Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.K388E
Back to variants list

GCM2

NM_004752.4:p.K388E

Associated Papers

Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism.

Iacobone M et al.

Updates in Surgery, 2025

A Knock-In Mouse Model of the Gcm2 Variant p.Y392S Develops Normal Parathyroid Glands.

Parekh VI et al.

Journal of the Endocrine Society, 2023

Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single-center study.

Song A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

Clinical and genetic analysis of atypical parathyroid adenoma compared with parathyroid carcinoma and benign lesions in a Chinese cohort.

Chen Y et al.

Frontiers in Endocrinology, 2023

GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.

Vincze S et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.

Park HS et al.

Frontiers in Endocrinology, 2022

Five patients with disorders of calcium metabolism presented with GCM2 gene variants.

García-Castaño A et al.

Scientific Reports, 2021

Germline GCM2 Mutation Screening in Chinese Primary Hyperparathyroidism Patients.

Song A et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2020

Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism.

Guan B et al.

Journal of the Endocrine Society, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."