Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R182K
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VHL

NM_000551.4:p.R182K

Associated Papers

Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT2GRATE Oncology Consortium.

Koeller DR et al.

Cancers, 2025

Lysine deserts and cullin-RING ligase receptors: Navigating untrodden paths in proteostasis.

Szulc NA et al.

Iscience, 2023

Differences in actionable genomic alterations between brain metastases and non‑brain metastases in patients with non‑small cell lung cancer.

Nian R et al.

International Journal of Oncology, 2022

35796015 (PubMed )
Supplement: Supplementary_Data6.xlsx › Sheet1

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s007.xlsx › Unweighted_ClinVar_Muts

Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.

Minervini G et al.

Plos Computational Biology, 2019

30943211 (PubMed )
Supplement: pcbi.1006478.s001.xlsx › AlignGVGD

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Analyses of Potential Predictive Markers and Response to Targeted Therapy in Patients with Advanced Clear-cell Renal Cell Carcinoma.

Song Y et al.

Chinese Medical Journal, 2015

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Gossage L et al.

Human Molecular Genetics, 2014

24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp_table.xlsx › Supplementary_Table_2A

Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications.

Kim HJ et al.

The Laryngoscope, 2013

VHL genetic alteration in CCRCC does not determine de-regulation of HIF, CAIX, hnRNP A2/B1 and osteopontin.

Nyhan MJ et al.

Cellular Oncology (dordrecht, Netherlands), 2011

VHL genetic alteration in CCRCC does not determine de-regulation of HIF, CAIX, hnRNP A2/B1 and osteopontin.

Nyhan MJ et al.

Analytical Cellular Pathology (amsterdam), 2010

Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.

Zhang J et al.

Journal of Cancer Research and Clinical Oncology, 2008

[Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome].

Zhang J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

[Analysis of two single nucleotide polymorphisms in von Hippel-Lindau gene and detection of loss of heterozygosity in Chinese sporadic renal cell carcinoma].

Liu N et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

Mutation of the von Hippel-Lindau (VHL) gene in human colorectal carcinoma: association with cytoplasmic accumulation of hypoxia-inducible factor (HIF)-1alpha.

Kuwai T et al.

Cancer Science, 2004

Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.

Mattocks C et al.

Human Mutation, 2000

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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."