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Results for the Protein: P28328
281185478

PEX2_HUMAN RecName: Full=Peroxisome biogenesis factor 2; AltName: Full=35 kDa peroxisomal membrane protein; AltName: Full=Peroxin-2; AltName: Full=Peroxisomal membrane protein 3; AltName: Full=Peroxisome assembly factor 1; Short=PAF-1; AltName: Full=RING finger protein 72

Known Diseases associated with this Protein:
  PEROXISOME BIOGENESIS DISORDER 5B (PBD5B)
1
1
0
0
2
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Default View:

Pex2_Pex12 - pfam04757
RING - cd00162
RING - smart00184
zf-C3HC4 - pfam00097


Swiss-Prot Protein: P28328
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RINGcd001624.2e-06243287
Pex2_Pex12pfam047571.3e-3926227
zf-C3HC4pfam000977.5e-06244283
RINGsmart001842.8e-06244283

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060784Polymorphismp.CYS184ARGN/A
Swiss-ProtVAR_011389Diseasep.GLU55LYSPeroxisome biogenesis disorder 5B (PBD5B)



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