Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P45L
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VHL

NM_000551.4:p.P45L

Associated Papers

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

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_

A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL.

Yang K et al.

Brain Tumor Pathology, 2022

Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

Gu GL et al.

World Journal of Gastroenterology, 2021

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

Preoperative next-generation sequencing of pancreatic cyst fluid is highly accurate in cyst classification and detection of advanced neoplasia.

Singhi AD et al.

Gut, 2018

28970292 (PubMed )
Supplement: gutjnl-2016-313586supp002.pdf

A novel VHLα isoform inhibits Warburg effect via modulation of PKM splicing.

Liu Y et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016

Functional annotation of rare gene aberration drivers of pancreatic cancer.

Tsang YH et al.

Nature Communications, 2016

26806015 (PubMed )
Supplement: ncomms10500-s2.xls › Sheet1

Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Ricketts CJ et al.

Plos One, 2015

26484545 (PubMed )
Supplement: pone.0140257.s003.xlsx › Sheet1
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