Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V155Splc
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VHL

NM_000551.4:p.V155Splc

Associated Papers

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Vasudev NS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36815791 (PubMed )
Supplement: ccr-22-1936_supplementary_table_s2_suppts2.xlsx › Sheet1

Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis.

Johnson TA et al.

Human Molecular Genetics, 2023

35981075 (PubMed )
Supplement: johnsonta_tables2_ddac180.xlsx › III_TG_Driver_summary

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

Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.

Tong D et al.

Cancer Cell International, 2021

Molecular characterisation of sporadic endolymphatic sac tumours and comparison to von Hippel-Lindau disease-related tumours.

Schweizer L et al.

Neuropathology and Applied Neurobiology, 2021

Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.

Zhang J et al.

Chinese Medical Journal, 2015

Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

Hwang S et al.

Journal of Human Genetics, 2014

Identification of 3 novel VHL germ-line mutations in Danish VHL patients.

Dandanell M et al.

Bmc Medical Genetics, 2012

Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.

Wu P et al.

Journal of Human Genetics, 2012

Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

Leonardi E et al.

Annals of Human Genetics, 2011

Molecular basis of von Hippel-Lindau syndrome in Chinese patients.

Siu WK et al.

Chinese Medical Journal, 2011

Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma.

Patard JJ et al.

British Journal of Cancer, 2009

19755989 (PubMed )
Supplement: 6605298x1.xls › DATA_VHL_
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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."