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Results for the Protein: NP_001015051
226442791
860

runt-related transcription factor 2 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  CLEIDOCRANIAL DYSPLASIA
  CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED
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Default View:

Runt - pfam00853
RunxI - pfam08504




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Runtpfam008537e-105100233
RunxIpfam085043.4e-53405499

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM600211.0008 Diseasep.ARG225GLNCLEIDOCRANIAL DYSPLASIA
OMIM600211.0012 Diseasep.ARG169PROCLEIDOCRANIAL DYSPLASIA
OMIM600211.0009 Diseasep.ARG225TRPCLEIDOCRANIAL DYSPLASIA
OMIM600211.0004 Diseasep.MET175ARGCLEIDOCRANIAL DYSPLASIA
OMIM600211.0005 Diseasep.SER191ASNCLEIDOCRANIAL DYSPLASIA
OMIM600211.0011 Diseasep.TER500SERCLEIDOCRANIAL DYSPLASIA
OMIM600211.0010 Diseasep.THR200ALACLEIDOCRANIAL DYSPLASIA||CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED
OMIM600211.0002 Diseasep.TRP283TERCLEIDOCRANIAL DYSPLASIA



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