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Results for the Protein: Q9NPC2
13431426

KCNK9_HUMAN RecName: Full=Potassium channel subfamily K member 9; AltName: Full=Acid-sensitive potassium channel protein TASK-3; AltName: Full=TWIK-related acid-sensitive K(+) channel 3; AltName: Full=Two pore potassium channel KT3.2; Short=Two pore K(+) channel KT3.2

Known Diseases associated with this Protein:
  BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME (BIBAS)
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Ion_trans_2 - pfam07885


Swiss-Prot Protein: Q9NPC2
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_trans_2pfam078852.2e-1954129
Ion_trans_2pfam078851.3e-14165243

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054373Diseasep.GLY236ARGBirk-Barel mental retardation dysmorphism syndrome (BIBAS)



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