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Results for the Protein: NP_001188413
319918882

GPI ethanolamine phosphate transferase 3 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
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Default View:

COG1524 - COG1524
Phosphodiest - pfam01663




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Phosphodiestpfam016630.0001470382

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM614730.0001 Diseasep.LEU540PHEHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2



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