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Results for the Protein: P61916
48429027

NPC2_HUMAN RecName: Full=Epididymal secretory protein E1; AltName: Full=Human epididymis-specific protein 1; Short=He1; AltName: Full=Niemann-Pick disease type C2 protein; Flags: Precursor

Known Diseases associated with this Protein:
  NIEMANN-PICK DISEASE C2 (NPDC2)
  NIEMANN-PICK DISEASE, TYPE C2
13
1
6
0
8
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Default View:

E1_DerP2_DerF2 - pfam02221
ML - smart00737
Der-p2_like - cd00918
Npc2_like - cd00916
ML - cd00912


Swiss-Prot Protein: P61916
Identical to: NP_006423
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Npc2_likecd009161.2e-6024145
Der-p2_likecd009181.8e-0624147
E1_DerP2_DerF2pfam022212.1e-5120147
MLsmart007373.2e-4224145

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_043306Diseasep.CYS99ARGNiemann-Pick disease C2 (NPDC2)
Swiss-ProtVAR_043304Diseasep.CYS47PHENiemann-Pick disease C2 (NPDC2)
Swiss-ProtVAR_043305Diseasep.CYS93PHENiemann-Pick disease C2 (NPDC2)
Swiss-ProtVAR_011899Polymorphismp.PRO86LEUN/A
Swiss-ProtVAR_043307Diseasep.PRO120SERNiemann-Pick disease C2 (NPDC2)
Swiss-ProtVAR_015849Diseasep.SER67PRONiemann-Pick disease C2 (NPDC2)
Swiss-ProtVAR_043303Diseasep.VAL30METNiemann-Pick disease C2 (NPDC2)
Swiss-ProtVAR_015848Diseasep.VAL39METNiemann-Pick disease C2 (NPDC2)
OMIM601015.0009 Diseasep.GLN146TERNIEMANN-PICK DISEASE, TYPE C2
OMIM601015.0004 Diseasep.GLU118TERNIEMANN-PICK DISEASE, TYPE C2
OMIM601015.0001 Diseasep.GLU20TERNIEMANN-PICK DISEASE, TYPE C2
OMIM601015.0010 Diseasep.PRO120SERNIEMANN-PICK DISEASE, TYPE C2
OMIM601015.0006 Diseasep.SER67PRONIEMANN-PICK DISEASE, TYPE C2
OMIM601015.0007 Diseasep.VAL39METNIEMANN-PICK DISEASE, TYPE C2



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