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Results for the Protein: NP_937799
38045906
VHL

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 ↕
pVHLcd054683e-1864162
VHLpfam018474.9e-7958172

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM608537.0005 Diseasep.ARG126GLNVON HIPPEL-LINDAU SYNDROME
OMIM608537.0004 Diseasep.ARG126GLYVON HIPPEL-LINDAU SYNDROME
OMIM608537.0015 Diseasep.ARG64PROPHEOCHROMOCYTOMA
OMIM608537.0006 Diseasep.ARG120TERVON HIPPEL-LINDAU SYNDROME
OMIM608537.0003 Diseasep.ARG126TRPVON HIPPEL-LINDAU SYNDROME||PHEOCHROMOCYTOMA, INCLUDED
OMIM608537.0019 Diseasep.ARG159TRPPOLYCYTHEMIA, CHUVASH TYPE
OMIM608537.0027 Diseasep.GLN123ARGVON HIPPEL-LINDAU SYNDROME
OMIM608537.0026 Diseasep.GLY93SERPHEOCHROMOCYTOMA
OMIM608537.0024 Diseasep.HIS150ASPERYTHROCYTOSIS, FAMILIAL, 2
OMIM608537.0018 Diseasep.LEU122PRORENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
OMIM608537.0016 Diseasep.LEU63PROPHEOCHROMOCYTOMA
OMIM608537.0014 Diseasep.LEU147VALVON HIPPEL-LINDAU SYNDROME||ERYTHROCYTOSIS, FAMILIAL, 2, INCLUDED;;||PHEOCHROMOCYTOMA, INCLUDED
OMIM608537.0023 Diseasep.PRO151SERERYTHROCYTOSIS, FAMILIAL, 2
OMIM608537.0020 Diseasep.PRO81SERVON HIPPEL-LINDAU SYNDROME
OMIM608537.0002 Diseasep.SER142TERRENAL CELL CARCINOMA, SOMATIC
OMIM608537.0007 Diseasep.TRP88SERHEMANGIOBLASTOMA, SPORADIC CEREBELLAR||VON HIPPEL-LINDAU SYNDROME, INCLUDED
OMIM608537.0017 Diseasep.TYR112ASNVON HIPPEL-LINDAU SYNDROME
OMIM608537.0012 Diseasep.TYR112HISVON HIPPEL-LINDAU SYNDROME
OMIM608537.0009 Diseasep.TYR98HISVON HIPPEL-LINDAU SYNDROME
OMIM608537.0025 Diseasep.VAL84LEUVON HIPPEL-LINDAU SYNDROME
OMIM608537.0013 Diseasep.VAL125PHEVON HIPPEL-LINDAU SYNDROME



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