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Results for the Protein: NP_001191727
325651834

potassium voltage-gated channel subfamily H member 2 isoform d [Homo sapiens]

Known Diseases associated with this Protein:
  LONG QT SYNDROME 2
  LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
  LONG QT SYNDROME, BRADYCARDIA-INDUCED
  SHORT QT SYNDROME 1
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Default View:

Ion_trans - pfam00520
Ion_trans_2 - pfam07885
cNMP - smart00100




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_trans_2pfam078852.8e-07242320
cNMPsmart001000.00069402517

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM152427.0025 Diseasep.ALA218PROLONG QT SYNDROME 2
OMIM152427.0011 Diseasep.ALA150THRLONG QT SYNDROME, BRADYCARDIA-INDUCED
OMIM152427.0001 Diseasep.ALA221VALLONG QT SYNDROME 2
OMIM152427.0026 Diseasep.ALA274VALLONG QT SYNDROME 2
OMIM152427.0009 Diseasep.ARG242CYSLONG QT SYNDROME 2
OMIM152427.0016 Diseasep.ARG412GLNLONG QT SYNDROME 2
OMIM152427.0014 Diseasep.ARG444TRPLONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
OMIM152427.0002 Diseasep.ASN130ASPLONG QT SYNDROME 2
OMIM152427.0017 152427.0018 Diseasep.ASN248LYSSHORT QT SYNDROME 1
OMIM152427.0010 Diseasep.GLY232ARGLONG QT SYNDROME 2
OMIM152427.0008 Diseasep.GLY288SERLONG QT SYNDROME 2
OMIM152427.0004 Diseasep.ILE253ARGLONG QT SYNDROME 2
OMIM152427.0027 Diseasep.TYR271HISLONG QT SYNDROME 2



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