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Results for the Protein: P15509
121509

CSF2R_HUMAN RecName: Full=Granulocyte-macrophage colony-stimulating factor receptor subunit alpha; Short=GM-CSF-R-alpha; Short=GMCSFR-alpha; Short=GMR-alpha; AltName: Full=CDw116; AltName: CD_antigen=CD116; Flags: Precursor

Known Diseases associated with this Protein:
  PULMONARY SURFACTANT METABOLISM DYSFUNCTION 4 (SMDP4)
  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4
2
1
1
1
1
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IL6Ra-bind - pfam09240


Swiss-Prot Protein: P15509
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IL6Ra-bindpfam092401.9e-29122215

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs67006588 Polymorphismp.ALA17GLYN/A
Swiss-ProtVAR_058507Diseasep.GLY196ARGPulmonary surfactant metabolism dysfunction 4 (SMDP4)
OMIM306250.0002 Diseasep.GLY174ARGSURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4



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