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Results for the Protein: NP_001258750
425876764

triggering receptor expressed on myeloid cells 2 precursor isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
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Default View:

V-set - pfam07686
Ig_pIgR - cd05716




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 ↕
OMIM605086.0003 Diseasep.ASP134GLYPOLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM605086.0007 Diseasep.GLN33TERPOLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM605086.0002 Diseasep.LYS1ASNPOLYCYSTIC 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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