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Results for the Protein: P24530
119622

EDNRB_HUMAN RecName: Full=Endothelin B receptor; Short=ET-B; Short=ET-BR; AltName: Full=Endothelin receptor non-selective type; Flags: Precursor

Known Diseases associated with this Protein:
  ABCD SYNDROME
  HIRSCHSPRUNG DISEASE 2 (HSCR2)
  HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  WAARDENBURG SYNDROME 4A (WS4A)
  WAARDENBURG SYNDROME, TYPE 4A
  WAARDENBURG SYNDROME, TYPE 4A, INCLUDED
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Default View:

7tm_1 - pfam00001


Swiss-Prot Protein: P24530
Identical to: NP_000106, NP_001116131
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Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_003470Diseasep.ALA183GLYWaardenburg syndrome 4A (WS4A)
dbSNPrs2228271 Polymorphismp.ARG76METN/A
Swiss-ProtVAR_003473Diseasep.ARG319TRPHirschsprung disease 2 (HSCR2)
dbSNPrs1801710 Polymorphismp.GLY57SERN/A
Swiss-ProtVAR_014675Polymorphismp.LEU7GLNN/A
dbSNPrs5346 Polymorphismp.LEU17PHEN/A
Swiss-ProtVAR_003474Diseasep.MET374ILEHirschsprung disease 2 (HSCR2)
Swiss-ProtVAR_015294Diseasep.PHE292LEUWaardenburg syndrome 4A (WS4A)
Swiss-ProtVAR_014677Polymorphismp.PHE112VALN/A
Swiss-ProtVAR_003475Diseasep.PRO383LEUHirschsprung disease 2 (HSCR2)
Swiss-ProtVAR_019285Polymorphismp.PRO5THRN/A
dbSNPrs5352 Polymorphismp.SER305ASNN/A
Swiss-ProtVAR_003472Diseasep.SER305ASNHirschsprung disease 2 (HSCR2)
dbSNPrs5350 Polymorphismp.THR244METN/A
Swiss-ProtVAR_003471Diseasep.TRP276CYSHirschsprung disease 2 (HSCR2)
OMIM131244.0002 Diseasep.ALA93GLYWAARDENBURG SYNDROME, TYPE 4A
OMIM131244.0008 Diseasep.ARG111TERABCD SYNDROME
OMIM131244.0007 Diseasep.ARG163TERWAARDENBURG SYNDROME, TYPE 4A
OMIM131244.0006 Diseasep.SER215ASNHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
OMIM131244.0001 Diseasep.TRP186CYSHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2||WAARDENBURG SYNDROME, TYPE 4A, INCLUDED
OMIM131244.0003 Diseasep.TRP185TERHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2



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