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Results for the Protein: P21583
134289

SCF_HUMAN RecName: Full=Kit ligand; AltName: Full=Mast cell growth factor; Short=MGF; AltName: Full=Stem cell factor; Short=SCF; AltName: Full=c-Kit ligand; Contains: RecName: Full=Soluble KIT ligand; Short=sKITLG; Flags: Precursor

Known Diseases associated with this Protein:
  FAMILIAL PROGRESSIVE HYPERPIGMENTATION (FPH)
  HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2
2
3
1
1
3
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SCF - pfam02404


Swiss-Prot Protein: P21583
Identical to: NP_000890
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SCFpfam024042.8e-2331273

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063237Diseasep.ASN36SERFamilial progressive hyperpigmentation (FPH)
dbSNPrs41283112 Polymorphismp.ASP210TYRN/A
Swiss-ProtVAR_042653Polymorphismp.PHE232TYRN/A
Swiss-ProtVAR_042652Polymorphismp.THR54ALAN/A
OMIM184745.0003 Diseasep.ASN36SERHYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2



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