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Results for the Protein: Q01196
215274205
861

RUNX1_HUMAN RecName: Full=Runt-related transcription factor 1; AltName: Full=Acute myeloid leukemia 1 protein; AltName: Full=Core-binding factor subunit alpha-2; Short=CBF-alpha-2; AltName: Full=Oncogene AML-1; AltName: Full=Polyomavirus enhancer-binding protein 2 alpha B subunit; Short=PEA2-alpha B; Short=PEBP2-alpha B; AltName: Full=SL3-3 enhancer factor 1 alpha B subunit; AltName: Full=SL3/AKV core-binding factor alpha B subunit

Known Diseases associated with this Protein:
  FAMILIAL PLATELET DISORDER WITH ASSOCIATED MYELOID MALIGNANCY (FPDMM)
  LEUKEMIA, ACUTE MYELOID, M0 SUBTYPE, INCLUDED
  PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
  TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME
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Default View:

Runt - pfam00853
RunxI - pfam08504


Swiss-Prot Protein: Q01196
Identical to: NP_001001890
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Runtpfam008536.1e-10549182
RunxIpfam085048.5e-52359453

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012128Diseasep.ARG139GLNFamilial platelet disorder with associated myeloid malignancy (FPDMM)
Swiss-ProtVAR_012129Diseasep.ARG174GLNFamilial platelet disorder with associated myeloid malignancy (FPDMM)
Swiss-ProtVAR_013177Polymorphismp.SER431ARGN/A
Swiss-ProtVAR_013178Polymorphismp.SER433ARGN/A
OMIM151385.0010 Diseasep.ALA102GLUPLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
OMIM151385.0006 Diseasep.ALA80PROPLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
OMIM151385.0002 Diseasep.ARG174GLNPLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
OMIM151385.0008 Diseasep.HIS31ASNTRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME||LEUKEMIA, ACUTE MYELOID, M0 SUBTYPE, INCLUDED
OMIM151385.0003 Diseasep.LYS56GLUPLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
OMIM151385.0005 Diseasep.TYR233TERPLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY



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