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Results for the Protein: Q9H799
403314397

CE042_HUMAN RecName: Full=Uncharacterized protein C5orf42

Known Diseases associated with this Protein:
  JOUBERT SYNDROME 17 (JBTS17)
1
7
0
0
8
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Swiss-Prot Protein: Q9H799
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068165Diseasep.ARG1336TRPJoubert syndrome 17 (JBTS17)
Swiss-ProtVAR_042952Polymorphismp.GLY3062ARGN/A
Swiss-ProtVAR_042948Polymorphismp.ILE1437THRN/A
Swiss-ProtVAR_042950Polymorphismp.ILE2143VALN/A
Swiss-ProtVAR_042949Polymorphismp.PHE2033CYSN/A
Swiss-ProtVAR_068167Polymorphismp.PHE2033SERN/A
Swiss-ProtVAR_068166Polymorphismp.PRO1794LEUN/A
Swiss-ProtVAR_042951Polymorphismp.PRO2592LEUN/A



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