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Results for the Protein: NP_001035877
109637776

ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  BROOKE-SPIEGLER SYNDROME, INCLUDED
  CYLINDROMATOSIS, FAMILIAL
  TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1
  TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, INCLUDED;;
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Default View:

CAP_GLY - pfam01302
Peptidase_C19N - cd02670
Peptidase_C19 - cd02257




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Peptidase_C19cd022574.9e-39590945
CAP_GLYpfam013029.4e-16127203
CAP_GLYpfam013023e-08232303
CAP_GLYpfam013021.1e-19469537

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM605018.0002 Diseasep.ARG755TERCYLINDROMATOSIS, FAMILIAL
OMIM605018.0008 Diseasep.ARG933TERCYLINDROMATOSIS, FAMILIAL||TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, INCLUDED;;||BROOKE-SPIEGLER SYNDROME, INCLUDED
OMIM605018.0007 Diseasep.GLU744GLYTRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1||BROOKE-SPIEGLER SYNDROME, INCLUDED



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