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Article

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Human molecular genetics - 15 Nov 2014

Gossage Lucy, Pires Douglas E V, Olivera-Nappa Álvaro, Asenjo Juan, Bycroft Mark, Blundell Tom L, Eisen Tim

Abstract excerpt

Mutations in the von Hippel-Lindau (VHL) gene are pathogenic in VHL disease, congenital polycythaemia and clear cell renal carcinoma (ccRCC). pVHL forms a ternary complex with elongin C and elongin B, critical for pVHL stability and function, which interacts with Cullin-2 and RING-box protein 1 to target hypoxia-inducible factor for polyubiquitination and proteasomal degradation. We describe a comprehensive...

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Share to Carcinoma, Renal Cell
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

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Share to Mutation, Missense

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Source

Open in PubMed Open full text

Identifiers

PMID: 24969085
DOI: 10.1093/hmg/ddu321
PMCID: PMC4204774

Genes

VHL

Provenance

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An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.PMID 24969085Read ↗

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