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Results for the Protein: P40337
4033778
VHL

VHL_HUMAN RecName: Full=Von Hippel-Lindau disease tumor suppressor; AltName: Full=Protein G7; AltName: Full=pVHL

Known Diseases associated with this Protein:
  ERYTHROCYTOSIS, FAMILIAL, 2
  ERYTHROCYTOSIS, FAMILIAL, 2 (ECYT2)
  ERYTHROCYTOSIS, FAMILIAL, 2, INCLUDED;;
  HEMANGIOBLASTOMA, SPORADIC CEREBELLAR
  PHEOCHROMOCYTOMA
  PHEOCHROMOCYTOMA (PCC)
  PHEOCHROMOCYTOMA, INCLUDED
  POLYCYTHEMIA, CHUVASH TYPE
  RENAL CELL CARCINOMA (RCC)
  RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
  RENAL CELL CARCINOMA, SOMATIC
  VON HIPPEL-LINDAU DISEASE (VHLD)
  VON HIPPEL-LINDAU SYNDROME
  VON HIPPEL-LINDAU SYNDROME, INCLUDED
141
6
24
0
123
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Swiss-Prot Protein: P40337
Identical to: NP_000542
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_034993Diseasep.ALA122ILEPheochromocytoma (PCC)
Swiss-ProtVAR_005740Diseasep.ALA149THRVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005751Diseasep.ARG161GLNVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005761Diseasep.ARG167GLNVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034991Diseasep.ARG107GLYPheochromocytoma (PCC)
Swiss-ProtVAR_005753Diseasep.ARG161GLYVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005760Diseasep.ARG167GLYVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005713Diseasep.ARG107PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005752Diseasep.ARG161PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034988Diseasep.ARG64PROPheochromocytoma (PCC)
Swiss-ProtVAR_005685Diseasep.ARG79PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005690Diseasep.ARG82PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005762Diseasep.ARG167TRPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_008104Diseasep.ARG176TRPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005779Diseasep.ARG200TRPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005682Diseasep.ASN78HISVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005734Diseasep.ASN131LYSVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005683Diseasep.ASN78SERVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005735Diseasep.ASN131THRVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005684Diseasep.ASN78THRVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005738Diseasep.ASP143GLUVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005730Diseasep.ASP121GLYVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034994Diseasep.ASP126TYRErythrocytosis, familial, 2 (ECYT2)
Swiss-ProtVAR_005755Diseasep.CYS162ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005754Diseasep.CYS162PHEVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005756Diseasep.CYS162TRPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005757Diseasep.CYS162TYRVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005758Diseasep.GLN164ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_008100Diseasep.GLN145HISVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_008102Diseasep.GLN164HISVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005706Diseasep.GLN96PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005773Diseasep.GLU186LYSVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005671Diseasep.GLU52LYSVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005676Diseasep.GLU70LYSVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005710Polymorphismp.GLY104ALAN/A
Swiss-ProtVAR_005719Diseasep.GLY114ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005712Polymorphismp.GLY106ASPN/A
Swiss-ProtVAR_005704Diseasep.GLY93ASPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005718Diseasep.GLY114CYSVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005703Diseasep.GLY93CYSVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005720Diseasep.GLY114SERVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005705Diseasep.GLY93SERVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_008098Diseasep.HIS115ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034999Diseasep.HIS191ASPErythrocytosis, familial, 2 (ECYT2)
Swiss-ProtVAR_005723Diseasep.HIS115GLNVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_055087Polymorphismp.HIS110TYRN/A
Swiss-ProtVAR_005722Diseasep.HIS115TYRVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034996Diseasep.ILE147THRPheochromocytoma (PCC)
Swiss-ProtVAR_005770Diseasep.ILE180VALVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005709Diseasep.LEU101ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005727Diseasep.LEU118ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005771Diseasep.LEU184ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005778Diseasep.LEU198ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005769Diseasep.LEU178GLNVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005776Diseasep.LEU188GLNVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_035001Diseasep.LEU198GLNPheochromocytoma (PCC)
Swiss-ProtVAR_005708Diseasep.LEU101GLYVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005699Polymorphismp.LEU89HISN/A
Swiss-ProtVAR_005731Diseasep.LEU128PHEVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034995Polymorphismp.LEU135PHEN/A
Swiss-ProtVAR_005726Diseasep.LEU118PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005748Diseasep.LEU158PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034998Diseasep.LEU163PRORenal cell carcinoma (RCC)
Swiss-ProtVAR_005768Diseasep.LEU178PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005772Diseasep.LEU184PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005775Diseasep.LEU188PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034987Diseasep.LEU63PROPheochromocytoma (PCC)
Swiss-ProtVAR_005700Diseasep.LEU89PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005724Diseasep.LEU116VALVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005749Diseasep.LEU158VALVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005777Diseasep.LEU188VALVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005750Diseasep.LYS159GLUVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005737Diseasep.PHE136CYSVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005679Diseasep.PHE76ILEVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005728Diseasep.PHE119LEUVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005680Diseasep.PHE76LEUVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005701Polymorphismp.PHE91LEUN/A
Swiss-ProtVAR_005729Diseasep.PHE119SERVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005736Diseasep.PHE136SERVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005681Diseasep.PHE76SERVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_008099Diseasep.PHE136TYRVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005693Diseasep.PRO86ALAVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005695Diseasep.PRO86ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_008097Diseasep.PRO86HISVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005741Diseasep.PRO154LEUVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034562Diseasep.PRO25LEUPheochromocytoma (PCC)
Swiss-ProtVAR_005694Diseasep.PRO86LEUVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_035000Diseasep.PRO192SERErythrocytosis, familial, 2 (ECYT2)
Swiss-ProtVAR_005689Diseasep.PRO81SERVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005696Diseasep.PRO86SERVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034989Diseasep.SER65ALAPheochromocytoma (PCC)
Swiss-ProtVAR_005716Diseasep.SER111ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005687Diseasep.SER80ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005715Diseasep.SER111ASNVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005688Diseasep.SER80ASNVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005714Diseasep.SER111CYSVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005686Diseasep.SER80ILEVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005672Diseasep.SER65LEUVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005670Diseasep.SER38PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005673Diseasep.SER65TRPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005675Diseasep.SER68TRPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005746Diseasep.THR157ILEVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005711Diseasep.THR105PROVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005697Diseasep.TRP88ARGVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005725Diseasep.TRP117CYSVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005698Diseasep.TRP88SERVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034992Diseasep.TYR112ASNVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_034997Diseasep.TYR156ASNPheochromocytoma (PCC)
Swiss-ProtVAR_005744Diseasep.TYR156ASPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005766Diseasep.TYR175ASPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005743Diseasep.TYR156CYSVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005717Diseasep.TYR112HISVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005707Diseasep.TYR98HISVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_008103Diseasep.VAL166ASPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005763Diseasep.VAL170ASPVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005742Diseasep.VAL155GLYVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005765Diseasep.VAL170GLYVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005677Diseasep.VAL74GLYVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005733Diseasep.VAL130LEUVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005692Diseasep.VAL84LEUVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_008101Diseasep.VAL155METVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005759Diseasep.VAL166PHEVon Hippel-Lindau disease (VHLD)
Swiss-ProtVAR_005764Diseasep.VAL170PHEVon Hippel-Lindau disease (VHLD)
OMIM608537.0005 Diseasep.ARG167GLNVON HIPPEL-LINDAU SYNDROME
OMIM608537.0004 Diseasep.ARG167GLYVON HIPPEL-LINDAU SYNDROME
OMIM608537.0015 Diseasep.ARG64PROPHEOCHROMOCYTOMA
OMIM608537.0006 Diseasep.ARG161TERVON HIPPEL-LINDAU SYNDROME
OMIM608537.0003 Diseasep.ARG167TRPVON HIPPEL-LINDAU SYNDROME||PHEOCHROMOCYTOMA, INCLUDED
OMIM608537.0019 Diseasep.ARG200TRPPOLYCYTHEMIA, CHUVASH TYPE
OMIM608537.0022 Diseasep.ASP126TYRERYTHROCYTOSIS, FAMILIAL, 2
OMIM608537.0027 Diseasep.GLN164ARGVON HIPPEL-LINDAU SYNDROME
OMIM608537.0026 Diseasep.GLY93SERPHEOCHROMOCYTOMA
OMIM608537.0024 Diseasep.HIS191ASPERYTHROCYTOSIS, FAMILIAL, 2
OMIM608537.0008 Diseasep.LEU135PHEHEMANGIOBLASTOMA, SPORADIC CEREBELLAR
OMIM608537.0018 Diseasep.LEU163PRORENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
OMIM608537.0016 Diseasep.LEU63PROPHEOCHROMOCYTOMA
OMIM608537.0014 Diseasep.LEU188VALVON HIPPEL-LINDAU SYNDROME||ERYTHROCYTOSIS, FAMILIAL, 2, INCLUDED;;||PHEOCHROMOCYTOMA, INCLUDED
OMIM608537.0023 Diseasep.PRO192SERERYTHROCYTOSIS, FAMILIAL, 2
OMIM608537.0020 Diseasep.PRO81SERVON HIPPEL-LINDAU SYNDROME
OMIM608537.0002 Diseasep.SER183TERRENAL 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
OMIM608537.0021 Diseasep.VAL130LEUERYTHROCYTOSIS, FAMILIAL, 2
OMIM608537.0025 Diseasep.VAL84LEUVON HIPPEL-LINDAU SYNDROME
OMIM608537.0013 Diseasep.VAL166PHEVON HIPPEL-LINDAU SYNDROME



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