Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.Y54*
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CDC73

NM_024529.5:p.Y54*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Primary exploration of cell-free DNA in the plasma of patients with parathyroid neoplasms using next-generation sequencing.

Zheng Q et al.

Cancer Cell International, 2025

40075389 (PubMed )
Supplement: 12935_2025_3699_MOESM2_ESM.xlsx › Sheet1

Molecular Genetic Aspects of Sporadic Multiglandular Primary Hyperparathyroidism.

Včelák J et al.

Physiological Research, 2023

Genomic Profiling Reveals the Variant Landscape of Sporadic Parathyroid Adenomas in Chinese Population.

Tao X et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Genomic and transcriptomic profiling reveal molecular characteristics of parathyroid carcinoma.

Jo SY et al.

Experimental & Molecular Medicine, 2023

37121965 (PubMed )
Supplement: 12276_2023_968_MOESM1_ESM.pdf

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

Parathyroid Tumors: Molecular Signatures.

Marini F et al.

International Journal of Molecular Sciences, 2021

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

The genomic profile of parathyroid carcinoma based on whole-genome sequencing.

Hu Y et al.

International Journal of Cancer, 2020

Preliminary exploration of potential molecular therapeutic targets in recurrent and metastatic parathyroid carcinomas.

Cui M et al.

International Journal of Cancer, 2019

Parathyroid Carcinoma.

Cetani F et al.

Frontiers of Hormone Research, 2019

Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas.

Wei Z et al.

Endocrinology, 2018

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

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

Kong J et al.

Zhonghua Yi Xue Za Zhi, 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

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

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

Wang CY et al.

Zhonghua Yi Xue Za Zhi, 2010

CDC73/HRPT2 CpG island hypermethylation and mutation of 5'-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors.

Hahn MA et al.

Endocrine-related Cancer, 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

Accuracy of combined protein gene product 9.5 and parafibromin markers for immunohistochemical diagnosis of parathyroid carcinoma.

Howell VM et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation.

Cetani F et al.

Endocrine-related Cancer, 2007

Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.

Howell VM et al.

The Journal of Molecular Diagnostics : Jmd, 2006

Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias.

Gill AJ et al.

The American Journal of Surgical Pathology, 2006

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."