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Results for the Protein: P98170
12643387
331

XIAP_HUMAN RecName: Full=E3 ubiquitin-protein ligase XIAP; AltName: Full=Baculoviral IAP repeat-containing protein 4; AltName: Full=IAP-like protein; Short=ILP; Short=hILP; AltName: Full=Inhibitor of apoptosis protein 3; Short=IAP-3; Short=hIAP-3; Short=hIAP3; AltName: Full=X-linked inhibitor of apoptosis protein; Short=X-linked IAP

Known Diseases associated with this Protein:
  LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2
2
4
2
4
0
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Default View:

BIR - smart00238
BIR - cd00022
BIR - pfam00653
RING - cd00162
RING - smart00184


Swiss-Prot Protein: P98170
Identical to: NP_001191330, NP_001158
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BIRcd000229.6e-322795
BIRcd000229.6e-41164232
BIRcd000221.4e-34266332
RINGcd001621e-05449488
BIRpfam006537.7e-272994
BIRpfam006531.6e-34166231
BIRpfam006538.9e-31268331
BIRsmart002382e-332595
BIRsmart002385.9e-44162232
BIRsmart002381.1e-35264332
RINGsmart001842.7e-05450484

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs28382721 Polymorphismp.ASN107SERN/A
dbSNPrs28382723 Polymorphismp.ASP242GLUN/A
dbSNPrs5956583 Polymorphismp.GLN423PRON/A
dbSNPrs28382722 Polymorphismp.SER133PHEN/A
OMIM300079.0004 Diseasep.CYS203TYRLYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2
OMIM300079.0002 Diseasep.GLU118TERLYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2



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