Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.Q251E
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GCM2

NM_004752.4:p.Q251E

Associated Papers

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

Iacobone M et al.

Updates in Surgery, 2025

Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism.

Tolkin L et al.

Journal of the Endocrine Society, 2023

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

Guan B et al.

Journal of the Endocrine Society, 2017

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Guan B et al.

American Journal of Human Genetics, 2016

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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."