Results for the protein: NP

Results for the Protein: NP_937799

38045906

7428

VHL

NCBI

von Hippel-Lindau disease tumor suppressor isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  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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Default View: VHL - pfam01847 pVHL - cd05468	RefSeq Protein: NP_937799 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
VHL	pfam01847	4.9e-79	58	172

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	608537.0005	Disease	p.ARG126GLN	VON HIPPEL-LINDAU SYNDROME
OMIM	608537.0004	Disease	p.ARG126GLY	VON HIPPEL-LINDAU SYNDROME
OMIM	608537.0015	Disease	p.ARG64PRO	PHEOCHROMOCYTOMA
OMIM	608537.0006	Disease	p.ARG120TER	VON HIPPEL-LINDAU SYNDROME
OMIM	608537.0003	Disease	p.ARG126TRP	VON HIPPEL-LINDAU SYNDROME\|\|PHEOCHROMOCYTOMA, INCLUDED
OMIM	608537.0019	Disease	p.ARG159TRP	POLYCYTHEMIA, CHUVASH TYPE
OMIM	608537.0027	Disease	p.GLN123ARG	VON HIPPEL-LINDAU SYNDROME
OMIM	608537.0026	Disease	p.GLY93SER	PHEOCHROMOCYTOMA
OMIM	608537.0024	Disease	p.HIS150ASP	ERYTHROCYTOSIS, FAMILIAL, 2
OMIM	608537.0018	Disease	p.LEU122PRO	RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
OMIM	608537.0016	Disease	p.LEU63PRO	PHEOCHROMOCYTOMA
OMIM	608537.0014	Disease	p.LEU147VAL	VON HIPPEL-LINDAU SYNDROME\|\|ERYTHROCYTOSIS, FAMILIAL, 2, INCLUDED;;\|\|PHEOCHROMOCYTOMA, INCLUDED
OMIM	608537.0023	Disease	p.PRO151SER	ERYTHROCYTOSIS, FAMILIAL, 2
OMIM	608537.0020	Disease	p.PRO81SER	VON HIPPEL-LINDAU SYNDROME
OMIM	608537.0002	Disease	p.SER142TER	RENAL CELL CARCINOMA, SOMATIC
OMIM	608537.0007	Disease	p.TRP88SER	HEMANGIOBLASTOMA, SPORADIC CEREBELLAR\|\|VON HIPPEL-LINDAU SYNDROME, INCLUDED
OMIM	608537.0017	Disease	p.TYR112ASN	VON HIPPEL-LINDAU SYNDROME
OMIM	608537.0012	Disease	p.TYR112HIS	VON HIPPEL-LINDAU SYNDROME
OMIM	608537.0009	Disease	p.TYR98HIS	VON HIPPEL-LINDAU SYNDROME
OMIM	608537.0025	Disease	p.VAL84LEU	VON HIPPEL-LINDAU SYNDROME
OMIM	608537.0013	Disease	p.VAL125PHE	VON HIPPEL-LINDAU SYNDROME

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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