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  Domain Name: VHL
von Hippel-Lindau disease tumour suppressor protein. VHL forms a ternary complex with the elonginB and elonginC proteins. This complex binds Cul2, which then is involved in regulation of vascular endothelial growth factor mRNA.
No pairwise interactions found for the domain VHL

Total Mutations Found: 21
Total Disease Mutations Found: 21
This domain occurred 2 times on human genes (3 proteins).



  ERYTHROCYTOSIS, FAMILIAL, 2
  ERYTHROCYTOSIS, FAMILIAL, 2, INCLUDED;;
  HEMANGIOBLASTOMA, SPORADIC CEREBELLAR
  PHEOCHROMOCYTOMA
  PHEOCHROMOCYTOMA, INCLUDED
  POLYCYTHEMIA, CHUVASH TYPE
  RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
  RENAL CELL CARCINOMA, SOMATIC
  VON HIPPEL-LINDAU SYNDROME
  VON HIPPEL-LINDAU SYNDROME, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for VHL









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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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