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Results for the Protein: Q9Y5Y5
332278135

PEX16_HUMAN RecName: Full=Peroxisomal membrane protein PEX16; AltName: Full=Peroxin-16; AltName: Full=Peroxisomal biogenesis factor 16

Known Diseases associated with this Protein:
  PEROXISOME BIOGENESIS DISORDER 8B (PBD8B)
2
3
0
0
5
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Default View:

Pex16 - pfam08610


Swiss-Prot Protein: Q9Y5Y5
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pex16pfam086101.3e-1507330

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069209Diseasep.PRO289THRPeroxisome biogenesis disorder 8B (PBD8B)
Swiss-ProtVAR_069210Diseasep.TYR331CYSPeroxisome biogenesis disorder 8B (PBD8B)
Swiss-ProtVAR_061841Polymorphismp.VAL116ILEN/A
Swiss-ProtVAR_034145Polymorphismp.VAL254LEUN/A
Swiss-ProtVAR_051272Polymorphismp.VAL103METN/A



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