Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S72P
Back to variants list

VHL

NM_000551.4:p.S72P

Associated Papers

Mapping cryptic phosphorylation sites in the human proteome.

Gasparotto D et al.

The Embo Journal, 2025

41044218 (PubMed )
Supplement: 44318_2025_567_MOESM5_ESM.xlsx › Table

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_

Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.

Serghini A et al.

Human Molecular Genetics, 2024

37883464 (PubMed )
Supplement: supplementary_tables_marked_edit_ddad181.xlsx › Supplementary_Table_1

Computational analysis of protein-protein interactions of cancer drivers in renal cell carcinoma.

Pei J et al.

Febs Open Bio, 2024

37964489 (PubMed )
Supplement: FEB4-14-112-s002.xlsx › PDB

Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies.

Aktas T et al.

Frontiers in Bioscience (landmark Edition), 2023

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › VHL

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

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted

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

Tuberous sclerosis complex protein 1 expression is affected by VHL Gene alterations and HIF-1α production in sporadic clear-cell renal cell carcinoma.

Damjanovic SS et al.

Experimental and Molecular Pathology, 2016

Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.

Razafinjatovo C et al.

Bmc Cancer, 2016

27530247 (PubMed )
Supplement: 12885_2016_2688_MOESM3_ESM.xlsx › Sheet1

Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.

Vikkath N et al.

Familial Cancer, 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.docx

VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.

Rechsteiner MP et al.

Cancer Research, 2011

Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.

Forman JR et al.

Proteins, 2009

Genotype-phenotype correlations in von Hippel-Lindau disease.

Ong KR et al.

Human Mutation, 2007

Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.

Kondo K et al.

Genes, Chromosomes & Cancer, 2002

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."