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Results for the Protein: Q9Y4Z2
229462908

NGN3_HUMAN RecName: Full=Neurogenin-3; Short=NGN-3; AltName: Full=Class A basic helix-loop-helix protein 7; Short=bHLHa7; AltName: Full=Protein atonal homolog 5

Known Diseases associated with this Protein:
  DIARRHEA 4, MALABSORPTIVE, CONGENITAL
  DIARRHEA 4, MALABSORPTIVE, CONGENITAL (DIAR4)
4
2
2
2
2
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Default View:

HLH - cd00083
HLH - pfam00010
HLH - smart00353


Swiss-Prot Protein: Q9Y4Z2
Identical to: NP_066279
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HLHpfam000103.1e-2184136
HLHsmart003531.2e-1889141

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_029003Diseasep.ARG93LEUDiarrhea 4, malabsorptive, congenital (DIAR4)
Swiss-ProtVAR_029004Diseasep.ARG107SERDiarrhea 4, malabsorptive, congenital (DIAR4)
dbSNPrs41277236 Polymorphismp.GLY167ARGN/A
dbSNPrs4536103 Polymorphismp.PHE199SERN/A
OMIM604882.0002 Diseasep.ARG93LEUDIARRHEA 4, MALABSORPTIVE, CONGENITAL
OMIM604882.0001 Diseasep.ARG107SERDIARRHEA 4, MALABSORPTIVE, CONGENITAL



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