Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R120*
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VHL

NM_000551.4:p.R120*

Associated Papers

Evaluation of Bridge Capture technology for mutation profiling in liquid biopsies of metastatic colorectal cancer patients.

Ganesan A et al.

Scientific Reports, 2025

40595931 (PubMed )
Supplement: 41598_2025_4827_MOESM3_ESM.xlsx › Patient__10

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

Exploring the anticancer potential of hydrogen sulfide and BAY‑876 on clear cell renal cell carcinoma cells: Uncovering novel mutations in VHL and KDR genes among ccRCC patients.

Hamadamin PS et al.

Molecular and Clinical Oncology, 2024

38332991 (PubMed )
Supplement: Supplementary_Data4.xlsx › Gene_mutationsMon_Jul_10_22_36_

Genomic profiles of renal cell carcinoma in a small Chinese cohort.

Tai S et al.

Frontiers in Oncology, 2023

37427096 (PubMed )
Supplement: Table_1.xls › Sheet1

Paediatric pancreatic neuroendocrine tumours in von Hippel-Lindau disease.

O'Toole SM et al.

Endocrine-related Cancer, 2018

Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution.

Fisher R et al.

Genome Biology, 2014

VHL gene alterations in Italian patients with isolated renal cell carcinomas.

Muscarella LA et al.

The International Journal of Biological Markers, 2013

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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."