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Results for the Protein: NP_001116079
169790837
861

runt-related transcription factor 1 isoform AML1a [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




Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
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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