Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.K34Q
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CDC73

NM_024529.5:p.K34Q

Associated Papers

Mutational landscape of cancer-driver genes across human cancers.

Sinkala M

Scientific Reports, 2023

37550388 (PubMed )
Supplement: 41598_2023_39608_MOESM6_ESM.xlsx › Sheet1

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

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

Cytoplasmic parafibromin/hCdc73 targets and destabilizes p53 mRNA to control p53-mediated apoptosis.

Jo JH et al.

Nature Communications, 2014

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

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

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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."