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Results for the Protein: P15328
544337

FOLR1_HUMAN RecName: Full=Folate receptor alpha; Short=FR-alpha; AltName: Full=Adult folate-binding protein; Short=FBP; AltName: Full=Folate receptor 1; AltName: Full=Folate receptor, adult; AltName: Full=KB cells FBP; AltName: Full=Ovarian tumor-associated antigen MOv18; Flags: Precursor

Known Diseases associated with this Protein:
  NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
2
2
2
0
2
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Default View:

Folate_rec - pfam03024




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Folate_recpfam030243.3e-1191211

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_059284Polymorphismp.TRP28ARGN/A
Swiss-ProtVAR_011963Polymorphismp.TRP160CYSN/A
OMIM136430.0002 Diseasep.CYS175TERNEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
OMIM136430.0001 Diseasep.GLN118TERNEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY



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