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Gene Symbol | VHL | ||||||||||
Synonyms | HRCA1 | pVHL | RCA1 | VHL1 | ||||||||||
Gene Description | VHL, von Hippel-Lindau tumor suppressor, is part of an E3 ubiquitin protein ligase complex, which promotes degradation of HIF-alpha and other protein targets required for cellular growth and angiogenesis (PMID: 24583008, PMID: 30194449), and plays a role in genomic stability (PMID: 31747945). VHL contributes to von Hippel-Lindau disease (PMID: 30194449, PMID: 30006056) and sporadic tumors, including clear cell renal carcinoma (PMID: 24583008, PMID: 30149673). | ||||||||||
ACMG Incidental List v3.0: |
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