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Results for the Protein: NP_001745
19923198
861

runt-related transcription factor 1 isoform AML1c [Homo sapiens]

Known Diseases associated with this Protein:
  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


RefSeq Protein: NP_001745
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Runtpfam008536.1e-10576209
RunxIpfam085048.5e-52386480

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM151385.0010 Diseasep.ALA129GLUPLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
OMIM151385.0006 Diseasep.ALA107PROPLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
OMIM151385.0002 Diseasep.ARG201GLNPLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
OMIM151385.0008 Diseasep.HIS58ASNTRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME||LEUKEMIA, ACUTE MYELOID, M0 SUBTYPE, INCLUDED
OMIM151385.0003 Diseasep.LYS83GLUPLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
OMIM151385.0005 Diseasep.TYR260TERPLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY



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