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Results for the Protein: O60331
78099088

PI51C_HUMAN RecName: Full=Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma; Short=PIP5K1-gamma; Short=PtdIns(4)P-5-kinase 1 gamma; AltName: Full=Phosphatidylinositol 4-phosphate 5-kinase type I gamma; Short=PIP5KIgamma

Known Diseases associated with this Protein:
  LETHAL CONGENITAL CONTRACTURE SYNDROME 3
  LETHAL CONGENITAL CONTRACTURE SYNDROME 3 (LCCS3)
2
0
1
0
1
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Default View:

MSS4 - COG5253
PIPKc - cd00139
PIPKc - smart00330
PIP5K - pfam01504


Swiss-Prot Protein: O60331
Identical to: NP_036530
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MSS4COG52535.8e-051474
PIP5Kpfam015043.2e-122157443
PIPKcsmart003308.7e-159103443

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036996Diseasep.ASP253ASNLethal congenital contracture syndrome 3 (LCCS3)
OMIM606102.0001 Diseasep.ASP253ASNLETHAL CONGENITAL CONTRACTURE SYNDROME 3



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