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Results for the Protein: Q9Y653
45476992

GPR56_HUMAN RecName: Full=G-protein coupled receptor 56; AltName: Full=Protein TM7XN1; Contains: RecName: Full=GPR56 N-terminal fragment; Short=GPR56 NT; Short=GPR56(N); AltName: Full=GPR56 extracellular subunit; AltName: Full=GPR56 subunit alpha; Contains: RecName: Full=GPR56 C-terminal fragment; Short=GPR56 CT; Short=GPR56(C); AltName: Full=GPR56 seven-transmembrane subunit; Short=GPR56 7TM; AltName: Full=GPR56 subunit beta; Flags: Precursor

Known Diseases associated with this Protein:
  POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
  POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (BFPP)
14
4
5
2
11
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Default View:

GPS - pfam01825
GPS - smart00303
7tm_2 - pfam00002


Swiss-Prot Protein: Q9Y653
Identical to: NP_001139243, NP_005673
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
7tm_2pfam000022.9e-20400654
GPSsmart003032.9e-13342394

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069581Diseasep.ARG38GLNPolymicrogyria, bilateral frontoparietal (BFPP)
Swiss-ProtVAR_026242Diseasep.ARG38TRPPolymicrogyria, bilateral frontoparietal (BFPP)
Swiss-ProtVAR_026246Diseasep.ARG565TRPPolymicrogyria, bilateral frontoparietal (BFPP)
Swiss-ProtVAR_026245Diseasep.CYS346SERPolymicrogyria, bilateral frontoparietal (BFPP)
Swiss-ProtVAR_026244Diseasep.CYS91SERPolymicrogyria, bilateral frontoparietal (BFPP)
dbSNPrs1801255 Polymorphismp.GLN306HISN/A
Swiss-ProtVAR_069583Diseasep.GLU496LYSPolymicrogyria, bilateral frontoparietal (BFPP)
Swiss-ProtVAR_069584Diseasep.LEU640ARGPolymicrogyria, bilateral frontoparietal (BFPP)
Swiss-ProtVAR_049457Polymorphismp.MET493THRN/A
Swiss-ProtVAR_049458Polymorphismp.PRO527LEUN/A
dbSNPrs1801257 Polymorphismp.SER281ARGN/A
Swiss-ProtVAR_069582Diseasep.TRP349SERPolymicrogyria, bilateral frontoparietal (BFPP)
Swiss-ProtVAR_026243Diseasep.TYR88CYSPolymicrogyria, bilateral frontoparietal (BFPP)
OMIM604110.0004 Diseasep.ARG38TRPPOLYMICROGYRIA, BILATERAL FRONTOPARIETAL
OMIM604110.0006 Diseasep.ARG565TRPPOLYMICROGYRIA, BILATERAL FRONTOPARIETAL
OMIM604110.0005 Diseasep.CYS346SERPOLYMICROGYRIA, BILATERAL FRONTOPARIETAL
OMIM604110.0007 Diseasep.CYS91SERPOLYMICROGYRIA, BILATERAL FRONTOPARIETAL
OMIM604110.0008 Diseasep.TYR88CYSPOLYMICROGYRIA, BILATERAL FRONTOPARIETAL



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