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Results for the Protein: Q9Y2Y0
74735245

AR2BP_HUMAN RecName: Full=ADP-ribosylation factor-like protein 2-binding protein; Short=ARF-like 2-binding protein; AltName: Full=Binder of ARF2 protein 1

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS (RPSI)
  RETINITIS PIGMENTOSA WITHOUT SITUS INVERSUS
2
1
1
1
1
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ARL2_Bind_BART - pfam11527


Swiss-Prot Protein: Q9Y2Y0
Identical to: NP_036238
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ARL2_Bind_BARTpfam115271.9e-4116136

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs7198865 Polymorphismp.GLU87LYSN/A
Swiss-ProtVAR_070227Diseasep.MET45ARGRetinitis pigmentosa with or without situs inversus (RPSI)
OMIM615407.0002 Diseasep.MET45ARGRETINITIS PIGMENTOSA WITHOUT SITUS INVERSUS



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