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Results for the Protein: P63252
54037433

IRK2_HUMAN RecName: Full=Inward rectifier potassium channel 2; AltName: Full=Cardiac inward rectifier potassium channel; AltName: Full=Inward rectifier K(+) channel Kir2.1; Short=IRK-1; Short=hIRK1; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 2

Known Diseases associated with this Protein:
  ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
  ATRIAL FIBRILLATION, FAMILIAL, 9
  ATRIAL FIBRILLATION, FAMILIAL, 9 (ATFB9)
  LONG QT SYNDROME 7 (LQT7)
  SHORT QT SYNDROME 3
  SHORT QT SYNDROME 3 (SQT3)
24
0
12
0
12
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Default View:

IRK_N - pfam08466
IRK - pfam01007


Swiss-Prot Protein: P63252
Identical to: NP_000882
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IRKpfam010071.5e-26248380
IRK_Npfam084662.9e-28147

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017856Diseasep.ARG218TRPLong QT syndrome 7 (LQT7)
Swiss-ProtVAR_017851Diseasep.ARG67TRPLong QT syndrome 7 (LQT7)
Swiss-ProtVAR_017855Diseasep.ASN216HISLong QT syndrome 7 (LQT7)
Swiss-ProtVAR_023842Diseasep.ASP172ASNShort QT syndrome 3 (SQT3)
Swiss-ProtVAR_017852Diseasep.ASP71VALLong QT syndrome 7 (LQT7)
Swiss-ProtVAR_065861Diseasep.CYS54PHELong QT syndrome 7 (LQT7)
Swiss-ProtVAR_017857Diseasep.GLY300VALLong QT syndrome 7 (LQT7)
Swiss-ProtVAR_017854Diseasep.PRO186LEULong QT syndrome 7 (LQT7)
Swiss-ProtVAR_065862Diseasep.THR75ARGLong QT syndrome 7 (LQT7)
Swiss-ProtVAR_065864Diseasep.THR305PROLong QT syndrome 7 (LQT7)
Swiss-ProtVAR_065863Diseasep.VAL93ILEAtrial fibrillation, familial, 9 (ATFB9)
Swiss-ProtVAR_017858Diseasep.VAL302METLong QT syndrome 7 (LQT7)
OMIM600681.0002 Diseasep.ARG218TRPANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
OMIM600681.0006 Diseasep.ARG67TRPANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
OMIM600681.0009 Diseasep.ASN216HISANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
OMIM600681.0010 Diseasep.ASP172ASNSHORT QT SYNDROME 3
OMIM600681.0001 Diseasep.ASP71VALANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
OMIM600681.0012 Diseasep.CYS54PHEANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
OMIM600681.0003 Diseasep.GLY300VALANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
OMIM600681.0007 Diseasep.PRO186LEUANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
OMIM600681.0011 Diseasep.THR75ARGANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
OMIM600681.0013 Diseasep.THR305PROANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
OMIM600681.0014 Diseasep.VAL93ILEATRIAL FIBRILLATION, FAMILIAL, 9
OMIM600681.0008 Diseasep.VAL302METANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS



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