Biomarkers /
VHL
Overview
Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) is a gene that encodes a member of a protein complex with ubiquitin ligase activity. The protein functions in ubiquitination and degradation of a transcription factor that regulates gene expression. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as intestinal cancer, kidney cancer, and cancer of the paratesticular tissues.
Clinical Trials
Significance of VHL in Diseases
References
1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.