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Results for the Protein: Q8IXL6
327478506

DMP4_HUMAN RecName: Full=Extracellular serine/threonine protein kinase FAM20C; AltName: Full=Dentin matrix protein 4; Short=DMP-4; AltName: Full=Golgi-enriched fraction casein kinase; Short=GEF-CK; AltName: Full=Protein FAM20C; Flags: Precursor

Known Diseases associated with this Protein:
  RAINE SYNDROME
  RAINE SYNDROME (RNS)
12
0
8
0
4
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Default View:

DUF1193 - pfam06702


Swiss-Prot Protein: Q8IXL6
Identical to: NP_064608
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_037533Diseasep.ARG549TRPRaine syndrome (RNS)
Swiss-ProtVAR_037531Diseasep.GLY379ARGRaine syndrome (RNS)
Swiss-ProtVAR_037530Diseasep.GLY379GLURaine syndrome (RNS)
Swiss-ProtVAR_037532Diseasep.LEU388ARGRaine syndrome (RNS)
OMIM611061.0003 Diseasep.ARG535TRPRAINE SYNDROME
OMIM611061.0009 Diseasep.ASP437ASNRAINE SYNDROME
OMIM611061.0011 Diseasep.GLY266ARGRAINE SYNDROME
OMIM611061.0001 Diseasep.GLY365ARGRAINE SYNDROME
OMIM611061.0005 Diseasep.GLY365GLURAINE SYNDROME
OMIM611061.0010 Diseasep.ILE244ASNRAINE SYNDROME
OMIM611061.0002 Diseasep.LEU374ARGRAINE SYNDROME
OMIM611061.0012 Diseasep.PRO314SERRAINE SYNDROME



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