Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.R222*
Back to variants list

CDC73

NM_024529.5:p.R222*

Associated Papers

Adolescent primary hyperparathyroidism.

Sharma A et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2025

A Comparative Genomic Analysis of Parathyroid Adenomas and Carcinomas Harboring Heterozygous Germline CDC73 Mutations.

Li Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.

Öfverholm I et al.

Cancers, 2024

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.

Gheorghe AM et al.

International Journal of Molecular Sciences, 2024

Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.

Tora R et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Genotype-Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism.

Sharma A et al.

Calcified Tissue International, 2022

Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma.

Mao X et al.

International Journal of Genomics, 2021

Parathyroid Carcinoma.

Cetani F et al.

Frontiers of Hormone Research, 2019

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L et al.

Human Mutation, 2017

Update on parathyroid carcinoma.

Cetani F et al.

Journal of Endocrinological Investigation, 2016

Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese.

Kong J et al.

Clinical Endocrinology, 2014

[CDC73 gene mutation and parafibromin expression status of parathyroid carcinoma in Chinese].

Kong J et al.

Zhonghua Yi Xue Za Zhi, 2013

Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism.

Bricaire L et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Novel HRPT2/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomas.

Wang O et al.

Plos One, 2012

Absence of nucleolar parafibromin immunoreactivity in subsets of parathyroid malignant tumours.

Juhlin CC et al.

Virchows Archiv : an International Journal of Pathology, 2011

[Clinical and molecular genetic analyses for a sporadic parathyroid carcinoma].

Wang CY et al.

Zhonghua Yi Xue Za Zhi, 2010

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

Newey PJ et al.

Human Mutation, 2010

The effect of disease-associated HRPT2 mutations on splicing.

Hahn MA et al.

The Journal of Endocrinology, 2009

HRPT2 gene analysis and the diagnosis of parathyroid carcinoma.

Cetani F et al.

Expert Review of Endocrinology & Metabolism, 2008

Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.

Marsh DJ et al.

Expert Opinion on Medical Diagnostics, 2007

Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene.

Zhao J et al.

Oncogene, 2007

Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.

Shattuck TM et al.

The New England Journal of Medicine, 2003

Targeted Next-Generation Sequencing of MEN 1, RET, CDC 73, and CDKNIB Genes in Familial Primary Hyperparathyroidism: A Study from Northern India.

Qadir A et al.

Indian Journal of Endocrinology and Metabolism, 0

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."