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Results for the Protein: Q3KNS1
425906063

PTHD3_HUMAN RecName: Full=Patched domain-containing protein 3; AltName: Full=Patched-related protein
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Default View:

Patched - pfam02460
Sterol-sensing - pfam12349


Swiss-Prot Protein: Q3KNS1
Identical to: NP_001030014
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Patchedpfam024606.2e-12166761
Sterol-sensingpfam123498.7e-50407554

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs12098562 Polymorphismp.ALA224GLYN/A
Swiss-ProtVAR_036921Polymorphismp.ARG372LYSN/A
dbSNPrs2429485 Polymorphismp.ASP473GLYN/A
dbSNPrs2484180 Polymorphismp.CYS407GLYN/A
dbSNPrs77473776 Polymorphismp.GLN186LYSN/A
dbSNPrs1638630 Polymorphismp.ILE584METN/A
dbSNPrs6482626 Polymorphismp.LEU152PRON/A
dbSNPrs2505327 Polymorphismp.MET521THRN/A
dbSNPrs115676272 Polymorphismp.PRO21ARGN/A
dbSNPrs12098477 Polymorphismp.THR126ALAN/A
dbSNPrs201849238 Polymorphismp.TRP132GLYN/A



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