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Results for the Protein: Q9NZC2
50401689

TREM2_HUMAN RecName: Full=Triggering receptor expressed on myeloid cells 2; Short=TREM-2; AltName: Full=Triggering receptor expressed on monocytes 2; Flags: Precursor

Known Diseases associated with this Protein:
  POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
  POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY (PLOSL)
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V-set - pfam07686
Ig_pIgR - cd05716


Swiss-Prot Protein: Q9NZC2
Identical to: NP_061838
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig_pIgRcd057163.1e-0923129
V-setpfam076863e-0523128

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019334Diseasep.ASP134GLYPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
Swiss-ProtVAR_033625Polymorphismp.HIS157TYRN/A
dbSNPrs2234256 Polymorphismp.LEU211PRON/A
Swiss-ProtVAR_019335Diseasep.LYS186ASNPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
dbSNPrs2234253 Polymorphismp.THR96ARGN/A
Swiss-ProtVAR_061329Polymorphismp.THR96LYSN/A
OMIM605086.0003 Diseasep.ASP134GLYPOLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM605086.0007 Diseasep.GLN33TERPOLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM605086.0002 Diseasep.LYS186ASNPOLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM605086.0005 Diseasep.TRP44TERPOLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM605086.0001 Diseasep.TRP78TERPOLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM605086.0006 Diseasep.VAL126GLYPOLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY



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