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Results for the Protein: P23560
114900
627

BDNF_HUMAN RecName: Full=Brain-derived neurotrophic factor; Short=BDNF; AltName: Full=Abrineurin; Flags: Precursor

Known Diseases associated with this Protein:
  CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (CCHS)
1
4
0
1
4
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NGFsmart001407.2e-87133240

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011799Polymorphismp.ARG127LEUN/A
Swiss-ProtVAR_011798Polymorphismp.ARG125METN/A
Swiss-ProtVAR_011797Polymorphismp.GLN75HISN/A
Swiss-ProtVAR_018260Diseasep.THR2ILECongenital central hypoventilation syndrome (CCHS)
dbSNPrs6265 Polymorphismp.VAL66METN/A



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