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Results for the Protein: NP_954701
40549411

glial cell line-derived neurotrophic factor isoform 2 preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, INCLUDED;;
  HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
  PHEOCHROMOCYTOMA,
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TGF_beta - pfam00019


RefSeq Protein: NP_954701
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TGF_betapfam000191.3e-3289185

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM600837.0001 Diseasep.ARG50TRPHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3||CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, INCLUDED;;||PHEOCHROMOCYTOMA,
OMIM600837.0002 Diseasep.ASP107ASNHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
OMIM600837.0004 Diseasep.ILE168METHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
OMIM600837.0003 Diseasep.THR111SERHIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3



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