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Results for the Protein: NP_001181887
364502977

potassium inwardly-rectifying channel, subfamily J, member 18 [Homo sapiens]

Known Diseases associated with this Protein:
  THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
3
12
3
12
0
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Default View:

IRK_N - pfam08466




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 ↕
dbSNPrs3752033 Polymorphismp.ARG39GLNN/A
dbSNPrs3752032 Polymorphismp.ARG6GLNN/A
dbSNPrs77270326 Polymorphismp.ARG261HISN/A
dbSNPrs3752034 Polymorphismp.ARG40HISN/A
dbSNPrs1657742 Polymorphismp.GLN192HISN/A
dbSNPrs1714865 Polymorphismp.GLU56ALAN/A
dbSNPrs78113532 Polymorphismp.GLU289GLNN/A
dbSNPrs4985866 Polymorphismp.ILE249VALN/A
dbSNPrs1612176 Polymorphismp.SER371ARGN/A
dbSNPrs1657738 Polymorphismp.SER15LEUN/A
dbSNPrs80335301 Polymorphismp.VAL297ILEN/A
dbSNPrs74880280 Polymorphismp.VAL36LEUN/A
OMIM613236.0003 Diseasep.ARG205HISTHYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
OMIM613236.0004 Diseasep.LYS366ARGTHYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
OMIM613236.0002 Diseasep.THR354METTHYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2



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