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Results for the Protein: O14764
59802571

GBRD_HUMAN RecName: Full=Gamma-aminobutyric acid receptor subunit delta; AltName: Full=GABA(A) receptor subunit delta; Flags: Precursor

Known Diseases associated with this Protein:
  EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIB
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS 5 (GEFS+5)
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY
  TO
3
2
2
0
3
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Default View:

Neur_chan_LBD - pfam02931
Neur_chan_memb - pfam02932


Swiss-Prot Protein: O14764
Identical to: NP_000806
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Neur_chan_LBDpfam029311.5e-5644247
Neur_chan_membpfam029325.2e-46254447

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_043152Polymorphismp.ARG220CYSN/A
Swiss-ProtVAR_043153Polymorphismp.ARG220HISN/A
Swiss-ProtVAR_043151Diseasep.GLU177ALAGeneralized epilepsy with febrile seizures plus 5 (GEFS+5)
OMIM137163.0002 Diseasep.ARG220HISGENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY||TO||EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIB
OMIM137163.0001 Diseasep.GLU177ALAGENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY||TO



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