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Results for the Protein: NP_065873
240255505

potassium channel subfamily T member 1 [Homo sapiens]

Known Diseases associated with this Protein:
  EPILEPSY, NOCTURNAL FRONTAL LOBE, 5
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
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Default View:

Ion_trans_2 - pfam07885
BK_channel_a - pfam03493


RefSeq Protein: NP_065873
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BK_channel_apfam034939.1e-54494599
Ion_trans_2pfam078853.6e-15277350

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM608167.0002 Diseasep.ALA934THREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
OMIM608167.0005 Diseasep.ARG928CYSEPILEPSY, NOCTURNAL FRONTAL LOBE, 5
OMIM608167.0007 Diseasep.ARG398GLNEPILEPSY, NOCTURNAL FRONTAL LOBE, 5
OMIM608167.0001 Diseasep.ARG428GLNEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
OMIM608167.0003 Diseasep.ARG474HISEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
OMIM608167.0004 Diseasep.ILE760METEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
OMIM608167.0008 Diseasep.MET896ILEEPILEPSY, NOCTURNAL FRONTAL LOBE, 5
OMIM608167.0009 Diseasep.PHE932ILEEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
OMIM608167.0006 Diseasep.TYR796HISEPILEPSY, NOCTURNAL FRONTAL LOBE, 5



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