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Results for the Protein: Q9H6L5
74733613

F134B_HUMAN RecName: Full=Protein FAM134B

Known Diseases associated with this Protein:
  NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
2
3
2
2
1
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Swiss-Prot Protein: Q9H6L5
Identical to: NP_001030022
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Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34432513 Polymorphismp.GLN379GLUN/A
Swiss-ProtVAR_068477Polymorphismp.GLY216ARGN/A
dbSNPrs61733811 Polymorphismp.SER382THRN/A
OMIM613114.0003 Diseasep.GLN145TERNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
OMIM613114.0001 Diseasep.SER309TERNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB



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