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Results for the Protein: NP_115497
215983058

magnesium transporter protein 1 [Homo sapiens]

Known Diseases associated with this Protein:
  IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS
  INFECTION, AND NEOPLASIA
  MENTAL RETARDATION, X-LINKED 95
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PDI_a_family - cd02961
OST3_OST6 - pfam04756


RefSeq Protein: NP_115497
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
OST3_OST6pfam047564.7e-70197349

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300715.0003 Diseasep.ARG137TERIMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS||INFECTION, AND NEOPLASIA
OMIM300715.0001 Diseasep.VAL311GLYMENTAL RETARDATION, X-LINKED 95



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