Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S33A
Back to variants list

VHL

NM_000551.4:p.S33A

Associated Papers

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 characterization of clear cell renal cell carcinoma using targeted gene sequencing.

Lin PH et al.

Oncology Letters, 2021

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.s006.xlsx › renal_phenotypes

Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.

Oliveira JL et al.

American Journal of Hematology, 2018

BAP1 loss defines a new class of renal cell carcinoma.

Peña-Llopis S et al.

Nature Genetics, 2012

Phosphorylation of the von Hippel-Lindau protein (VHL) by protein kinase CK2 reduces its protein stability and affects p53 and HIF-1alpha mediated transcription.

Ampofo E et al.

The International Journal of Biochemistry & Cell Biology, 2010

Tumor suppression by the von Hippel-Lindau protein requires phosphorylation of the acidic domain.

Lolkema MP et al.

The Journal of Biological Chemistry, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."