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Results for the Protein: Q12791
46396283

KCMA1_HUMAN RecName: Full=Calcium-activated potassium channel subunit alpha-1; AltName: Full=BK channel; AltName: Full=BKCA alpha; AltName: Full=Calcium-activated potassium channel, subfamily M subunit alpha-1; AltName: Full=K(VCA)alpha; AltName: Full=KCa1.1; AltName: Full=Maxi K channel; Short=MaxiK; AltName: Full=Slo-alpha; AltName: Full=Slo1; AltName: Full=Slowpoke homolog; Short=Slo homolog; Short=hSlo

Known Diseases associated with this Protein:
  GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA
  GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA (GEPD)
2
0
1
0
1
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Default View:

Ion_trans - pfam00520
Ion_trans_2 - pfam07885
BK_channel_a - pfam03493


Swiss-Prot Protein: Q12791
Identical to: NP_001154824
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005203.9e-25216387
BK_channel_apfam034931.9e-42536634
Ion_trans_2pfam078858.4e-15305388

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023821Diseasep.ASP434GLYGeneralized epilepsy and paroxysmal dyskinesia (GEPD)
OMIM600150.0001 Diseasep.ASP434GLYGENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA



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