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Results for the Protein: Q12946
238054293

FOXF1_HUMAN RecName: Full=Forkhead box protein F1; AltName: Full=Forkhead-related activator 1; Short=FREAC-1; AltName: Full=Forkhead-related protein FKHL5; AltName: Full=Forkhead-related transcription factor 1

Known Diseases associated with this Protein:
  ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
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Default View:

FH - smart00339
Fork_head - pfam00250
FH - cd00059


Swiss-Prot Protein: Q12946
Identical to: NP_001442
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Fork_headpfam002502.2e-5748143
FHsmart003393.3e-5948136

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM601089.0002 Diseasep.TER355ARGALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
OMIM601089.0001 Diseasep.TYR50TERALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS



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