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Results for the Protein: Q9Y6J6
6685661

KCNE2_HUMAN RecName: Full=Potassium voltage-gated channel subfamily E member 2; AltName: Full=MinK-related peptide 1; AltName: Full=Minimum potassium ion channel-related peptide 1; AltName: Full=Potassium channel subunit beta MiRP1

Known Diseases associated with this Protein:
  ATRIAL FIBRILLATION, FAMILIAL, 4
  ATRIAL FIBRILLATION, FAMILIAL, 4 (ATFB4)
  LONG QT SYNDROME 3/6, DIGENIC
  LONG QT SYNDROME 6
  LONG QT SYNDROME 6 (LQT6)
  LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO
12
3
5
0
10
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Swiss-Prot Protein: Q9Y6J6
Identical to: NP_751951
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Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022052Polymorphismp.ALA66VALN/A
Swiss-ProtVAR_037795Diseasep.ARG27CYSAtrial fibrillation, familial, 4 (ATFB4)
Swiss-ProtVAR_035386Diseasep.ARG77TRPLong QT syndrome 6 (LQT6)
Swiss-ProtVAR_008376Diseasep.GLN9GLULong QT syndrome 6 (LQT6)
Swiss-ProtVAR_008378Diseasep.ILE57THRLong QT syndrome 6 (LQT6)
Swiss-ProtVAR_008377Diseasep.MET54THRLong QT syndrome 6 (LQT6)
Swiss-ProtVAR_029334Diseasep.PHE60LEULong QT syndrome 6 (LQT6)
Swiss-ProtVAR_008375Polymorphismp.THR8ALAN/A
Swiss-ProtVAR_037794Polymorphismp.THR8ILEN/A
Swiss-ProtVAR_015063Diseasep.VAL65METLong QT syndrome 6 (LQT6)
OMIM603796.0004 Diseasep.ARG27CYSATRIAL FIBRILLATION, FAMILIAL, 4
OMIM603796.0001 Diseasep.GLN9GLULONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO
OMIM603796.0003 Diseasep.ILE57THRLONG QT SYNDROME 6
OMIM603796.0002 Diseasep.MET54THRLONG QT SYNDROME 6
OMIM603796.0005 Diseasep.PHE60LEULONG QT SYNDROME 3/6, DIGENIC



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