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Results for the Protein: P48544
296434543

IRK5_HUMAN RecName: Full=G protein-activated inward rectifier potassium channel 4; Short=GIRK-4; AltName: Full=Cardiac inward rectifier; Short=CIR; AltName: Full=Heart KATP channel; AltName: Full=Inward rectifier K(+) channel Kir3.4; Short=IRK-4; AltName: Full=KATP-1; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 5

Known Diseases associated with this Protein:
  FAMILIAL HYPERALDOSTERONISM 3 (FH3)
  HYPERALDOSTERONISM, FAMILIAL, TYPE III
  LONG QT SYNDROME 13
  LONG QT SYNDROME 13 (LQT13)
6
5
2
0
9
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IRK - pfam01007


Swiss-Prot Protein: P48544
Identical to: NP_000881
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IRKpfam010076.2e-25654390

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065929Polymorphismp.ARG39HISN/A
Swiss-ProtVAR_063107Polymorphismp.GLN282GLUN/A
Swiss-ProtVAR_069182Polymorphismp.GLU145GLNN/A
Swiss-ProtVAR_065930Diseasep.GLY151ARGFamilial hyperaldosteronism 3 (FH3)
Swiss-ProtVAR_063766Diseasep.GLY387ARGLong QT syndrome 13 (LQT13)
Swiss-ProtVAR_067090Diseasep.GLY151GLUFamilial hyperaldosteronism 3 (FH3)
Swiss-ProtVAR_065932Polymorphismp.LEU168ARGN/A
Swiss-ProtVAR_065933Polymorphismp.MET210ILEN/A
Swiss-ProtVAR_065931Diseasep.THR158ALAFamilial hyperaldosteronism 3 (FH3)
OMIM600734.0001 Diseasep.GLY387ARGLONG QT SYNDROME 13
OMIM600734.0002 Diseasep.THR158ALAHYPERALDOSTERONISM, FAMILIAL, TYPE III



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