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Results for the Protein: P28472
120773

GBRB3_HUMAN RecName: Full=Gamma-aminobutyric acid receptor subunit beta-3; AltName: Full=GABA(A) receptor subunit beta-3; Flags: Precursor

Known Diseases associated with this Protein:
  EPILEPSY, CHILDHOOD ABSENCE 5 (ECA5)
  EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
  INSOMNIA
3
2
2
0
3
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Default View:

Neur_chan_LBD - pfam02931
Neur_chan_memb - pfam02932


Swiss-Prot Protein: P28472
Identical to: NP_000805
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Neur_chan_membpfam029322e-70250468

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_047959Polymorphismp.ARG217HISN/A
Swiss-ProtVAR_047958Polymorphismp.GLN173LEUN/A
Swiss-ProtVAR_047957Diseasep.GLY32ARGEpilepsy, childhood absence 5 (ECA5)
OMIM137192.0001 Diseasep.ARG192HISINSOMNIA
OMIM137192.0004 Diseasep.GLY32ARGEPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5



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