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Results for the Protein: P39905
729567

GDNF_HUMAN RecName: Full=Glial cell line-derived neurotrophic factor; Short=hGDNF; AltName: Full=Astrocyte-derived trophic factor; Short=ATF; Flags: Precursor

Known Diseases associated with this Protein:
  CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, INCLUDED;;
  HIRSCHSPRUNG DISEASE 3 (HSCR3)
  HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
  PHEOCHROMOCYTOMA,
6
3
4
0
5
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Swiss-Prot Protein: P39905
Identical to: NP_000505
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009495Polymorphismp.ARG93TRPN/A
Swiss-ProtVAR_009496Polymorphismp.ASP150ASNN/A
Swiss-ProtVAR_018152Diseasep.ILE211METHirschsprung disease 3 (HSCR3)
Swiss-ProtVAR_009494Polymorphismp.PRO21SERN/A
Swiss-ProtVAR_009497Diseasep.THR154SERHirschsprung disease 3 (HSCR3)
OMIM600837.0001 Diseasep.ARG76TRPHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3||CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, INCLUDED;;||PHEOCHROMOCYTOMA,
OMIM600837.0002 Diseasep.ASP133ASNHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
OMIM600837.0004 Diseasep.ILE194METHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
OMIM600837.0003 Diseasep.THR137SERHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3



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