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Results for the Protein: NP_001139245
224809320

G-protein coupled receptor 56 isoform c precursor [Homo sapiens]

Known Diseases associated with this Protein:
  POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
5
2
5
2
0
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Default View:

GPS - pfam01825
GPS - smart00303
7tm_2 - pfam00002




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
7tm_2pfam000028.4e-22405653
GPSsmart003032.9e-13347399

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1801255 Polymorphismp.GLN311HISN/A
dbSNPrs1801257 Polymorphismp.SER286ARGN/A
OMIM604110.0004 Diseasep.ARG43TRPPOLYMICROGYRIA, BILATERAL FRONTOPARIETAL
OMIM604110.0006 Diseasep.ARG564TRPPOLYMICROGYRIA, BILATERAL FRONTOPARIETAL
OMIM604110.0005 Diseasep.CYS351SERPOLYMICROGYRIA, BILATERAL FRONTOPARIETAL
OMIM604110.0007 Diseasep.CYS96SERPOLYMICROGYRIA, BILATERAL FRONTOPARIETAL
OMIM604110.0008 Diseasep.TYR93CYSPOLYMICROGYRIA, BILATERAL FRONTOPARIETAL



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