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Results for the Protein: NP_722448
24497467

ATP-sensitive inward rectifier potassium channel 1 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  BARTTER SYNDROME, ANTENATAL, TYPE 2
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IRK - pfam01007


RefSeq Protein: NP_722448
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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 ↕
OMIM600359.0007 Diseasep.ALA179THRBARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM600359.0005 Diseasep.ALA176VALBARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM600359.0009 Diseasep.ASP89HISBARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM600359.0008 Diseasep.GLY148GLUBARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM600359.0010 Diseasep.LYS105ASNBARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM600359.0006 Diseasep.MET319THRBARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM600359.0003 Diseasep.SER181ARGBARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM600359.0004 Diseasep.TRP39TERBARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM600359.0001 Diseasep.TYR41TERBARTTER SYNDROME, ANTENATAL, TYPE 2



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