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Results for the Protein: P09471
232133

GNAO_HUMAN RecName: Full=Guanine nucleotide-binding protein G(o) subunit alpha

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
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3
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Default View:

G-alpha - pfam00503
G_alpha - smart00275
G-alpha - cd00066
Ras_like_GTPase - cd00882
Arf_Arl - cd00878
Arf - pfam00025


Swiss-Prot Protein: P09471
Identical to: NP_066268
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ras_like_GTPasecd008823.2e-1638341
Arf_Arlcd008780.00023160342
G-alphapfam005033.4e-2566353
Arfpfam000250.001160343
G_alphasmart002756.2e-23213352

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM139311.0002 Diseasep.ASP174GLYEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
OMIM139311.0004 Diseasep.GLY203ARGEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
OMIM139311.0001 Diseasep.ILE279ASNEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17



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