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Results for the Protein: Q8WWQ2
125987832

HPSE2_HUMAN RecName: Full=Inactive heparanase-2; Short=Hpa2; Flags: Precursor

Known Diseases associated with this Protein:
  UROFACIAL SYNDROME 1
4
2
4
2
0
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Glyco_hydro_79n - pfam03662


Swiss-Prot Protein: Q8WWQ2
Identical to: NP_068600
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Glyco_hydro_79npfam036621.9e-0756408

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17110744 Polymorphismp.ALA315THRN/A
dbSNPrs10883100 Polymorphismp.TYR579PHEN/A
OMIM613469.0007 Diseasep.ARG153TERUROFACIAL SYNDROME 1
OMIM613469.0006 Diseasep.ARG472TERUROFACIAL SYNDROME 1
OMIM613469.0001 Diseasep.ARG506TERUROFACIAL SYNDROME 1
OMIM613469.0009 Diseasep.ASN543ILEUROFACIAL SYNDROME 1



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