Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P154delFs
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VHL

NM_000551.4:p.P154delFs

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_

Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.

Zhang K et al.

Journal of Medical Genetics, 2022

34916234 (PubMed )
Supplement: jmedgenet-2021-108216supp006.pdf

Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Chiorean A et al.

Human Mutation, 2022

35475554 (PubMed )
Supplement: HUMU-43-1268-s002.xlsx › Data_1

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

Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Labriola MK et al.

Journal for Immunotherapy of Cancer, 2020

32221016 (PubMed )
Supplement: jitc-2019-000319supp001.xlsx › Supp_Table_1

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

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

21715564 (PubMed )
Supplement: 00085472can110757-sup-can_11-0757_rechsteiner_t2.pdf
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