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Results for the Protein: Q9Y6C5
12643356

PTC2_HUMAN RecName: Full=Protein patched homolog 2; Short=PTC2

Known Diseases associated with this Protein:
  BASAL CELL NEVUS SYNDROME
1
7
1
1
6
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Default View:

Sterol-sensing - pfam12349


Swiss-Prot Protein: Q9Y6C5
Identical to: NP_003729
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sterol-sensingpfam123493.1e-58418570

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_018935Polymorphismp.GLU346GLNN/A
Swiss-ProtVAR_018936Polymorphismp.GLU493LYSN/A
Swiss-ProtVAR_018937Polymorphismp.HIS622TYRN/A
Swiss-ProtVAR_018940Polymorphismp.ILE1121METN/A
dbSNPrs11573590 Polymorphismp.THR988METN/A
Swiss-ProtVAR_018939Polymorphismp.VAL1019METN/A
Swiss-ProtVAR_050466Polymorphismp.VAL995METN/A
OMIM603673.0003 Diseasep.ARG719GLNBASAL CELL NEVUS SYNDROME



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