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Results for the Protein: Q9Y5Y0
46396053

FLVC1_HUMAN RecName: Full=Feline leukemia virus subgroup C receptor-related protein 1; Short=Feline leukemia virus subgroup C receptor; Short=hFLVCR

Known Diseases associated with this Protein:
  POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
  POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (PCARP)
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2
4
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Default View:

AraJ - COG2814
MFS - cd06174
MFS_1 - pfam07690


Swiss-Prot Protein: Q9Y5Y0
Identical to: NP_054772
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AraJCOG28140.0001796520
MFS_1pfam076901.7e-24113478

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs11120047 Polymorphismp.ALA52PRON/A
Swiss-ProtVAR_065160Diseasep.ALA241THRPosterior column ataxia with retinitis pigmentosa (PCARP)
Swiss-ProtVAR_065158Diseasep.ASN121ASPPosterior column ataxia with retinitis pigmentosa (PCARP)
Swiss-ProtVAR_065159Diseasep.CYS192ARGPosterior column ataxia with retinitis pigmentosa (PCARP)
Swiss-ProtVAR_065161Diseasep.GLY493ARGPosterior column ataxia with retinitis pigmentosa (PCARP)
dbSNPrs3207090 Polymorphismp.THR544METN/A
OMIM609144.0002 Diseasep.ALA241THRPOSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
OMIM609144.0001 Diseasep.ASN121ASPPOSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
OMIM609144.0003 Diseasep.CYS192ARGPOSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
OMIM609144.0004 Diseasep.GLY493ARGPOSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA



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