Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R133C
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RET

NM_020975.6:p.R133C

Associated Papers

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.

Tabata J et al.

Cancer Research, 2022

36166639 (PubMed )
Supplement: can-22-0834_supplementary_table_s1_suppst1.xlsx › Supplementary_Table_S1

An integrative pan cancer analysis of RET aberrations and their potential clinical implications.

Zhou L et al.

Scientific Reports, 2022

35978072 (PubMed )
Supplement: 41598_2022_17791_MOESM3_ESM.xlsx › table

Association between somatic RET mutations and clinical and genetic characteristics in patients with metastatic colorectal cancer.

Yang YZ et al.

Cancer Medicine, 2021

ctDNA detected by ddPCR reveals changes in tumour load in metastatic malignant melanoma treated with bevacizumab.

Forthun RB et al.

Scientific Reports, 2019

31767937 (PubMed )
Supplement: 41598_2019_53917_MOESM2_ESM.xlsx › Supplementary_Table_1

Diagnostic value of partial exome sequencing in developmental disorders.

Gieldon L et al.

Plos One, 2018

Genetic testing in the clinical care of patients with pheochromocytoma and paraganglioma.

Rana HQ et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2014

Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations.

Ngo DN et al.

Journal of Pediatric Surgery, 2012

Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions.

Ghosh RP et al.

The Journal of Biological Chemistry, 2008

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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."