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Results for the Protein: Q92542
12231037

NICA_HUMAN RecName: Full=Nicastrin; Flags: Precursor

Known Diseases associated with this Protein:
  ACNE INVERSA, FAMILIAL, 1
  ACNE INVERSA, FAMILIAL, 1 (ACNINV1)
2
2
1
1
2
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Nicastrin - pfam05450


Swiss-Prot Protein: Q92542
Identical to: NP_056146
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Nicastrinpfam054501.9e-132274499

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35603924 Polymorphismp.GLU77ASPN/A
Swiss-ProtVAR_067756Diseasep.PRO211ARGAcne inversa, familial, 1 (ACNINV1)
Swiss-ProtVAR_050274Polymorphismp.VAL75ILEN/A
OMIM605254.0003 Diseasep.ARG117TERACNE INVERSA, FAMILIAL, 1



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