Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.R76*
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CDC73

NM_024529.5:p.R76*

Associated Papers

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

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 Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma.

Mao X et al.

International Journal of Genomics, 2021

33778063 (PubMed )
Supplement: 6666257.f1.zip › Supplemental_Table_2__1_.pdf

Genetic profiling as a clinical tool in advanced parathyroid carcinoma.

Kutahyalioglu M et al.

Journal of Cancer Research and Clinical Oncology, 2019

Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.

Clarke CN et al.

Journal of the Endocrine Society, 2019

Parathyroid Carcinoma.

Cetani F et al.

Frontiers of Hormone Research, 2019

A Young Male with Parafibromin-Deficient Parathyroid Carcinoma Due to a Rare Germline HRPT2/CDC73 Mutation.

Kapur A et al.

Endocrine Pathology, 2018

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.

van der Tuin K et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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

Cardoso L et al.

Human Mutation, 2017

Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome.

Sun W et al.

Scientific Reports, 2017

29142233 (PubMed )
Supplement: 41598_2017_15715_MOESM1_ESM.pdf

Update on parathyroid carcinoma.

Cetani F et al.

Journal of Endocrinological Investigation, 2016

The tumor suppressor CDC73 interacts with the ring finger proteins RNF20 and RNF40 and is required for the maintenance of histone 2B monoubiquitination.

Hahn MA et al.

Human Molecular Genetics, 2012

Genome-wide and locus specific alterations in CDC73/HRPT2-mutated parathyroid tumors.

Sulaiman L et al.

Plos One, 2012

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors.

Siu WK et al.

Familial Cancer, 2011

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

Juhlin CC et al.

Virchows Archiv : an International Journal of Pathology, 2011

Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses.

Cavaco BM et al.

Endocrine Pathology, 2011

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

Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin.

Hahn MA et al.

Oncogene, 2005

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

Shattuck TM et al.

The New England Journal of Medicine, 2003

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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."