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Results for the Protein: NP_751948
27436986

potassium voltage-gated channel subfamily D member 3 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  SPINOCEREBELLAR ATAXIA 19
  VARIANT OF UNKNOWN SIGNIFICANCE
3
0
3
0
0
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Default View:

Shal-type - pfam11601
BTB - smart00225
K_tetra - pfam02214
Ion_trans - pfam00520
Ion_trans_2 - pfam07885
DUF3399 - pfam11879


RefSeq Protein: NP_751948
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005202.6e-41228402
Shal-typepfam116011.1e-13328
BTBsmart002251.2e-2038132
Ion_trans_2pfam078857.7e-13327403
DUF3399pfam118794.2e-69442545

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM605411.0003 Diseasep.MET373ILEVARIANT OF UNKNOWN SIGNIFICANCE
OMIM605411.0004 Diseasep.SER390ASNVARIANT OF UNKNOWN SIGNIFICANCE
OMIM605411.0002 Diseasep.THR352PROSPINOCEREBELLAR ATAXIA 19



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