Home News About DMDM Database Statistics Research Publications Contact  

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
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



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 ↕
DUF1193pfam067027.9e-161353573

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



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258