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Results for the Protein: Q92968
3914319

PEX13_HUMAN RecName: Full=Peroxisomal membrane protein PEX13; AltName: Full=Peroxin-13

Known Diseases associated with this Protein:
  PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
  PEROXISOME BIOGENESIS DISORDER 11B
  PEROXISOME BIOGENESIS DISORDER 11B (PBD11B)
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Default View:

SH3 - smart00326


Swiss-Prot Protein: Q92968
Identical to: NP_002609
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs116059308 Polymorphismp.ASP225GLYN/A
Swiss-ProtVAR_009306Diseasep.ILE326THRPeroxisome biogenesis disorder 11B (PBD11B)
OMIM601789.0002 Diseasep.ILE326THRPEROXISOME BIOGENESIS DISORDER 11B
OMIM601789.0001 Diseasep.TRP234TERPEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)



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