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Results for the Protein: Q92560
68565074

BAP1_HUMAN RecName: Full=Ubiquitin carboxyl-terminal hydrolase BAP1; AltName: Full=BRCA1-associated protein 1; AltName: Full=Cerebral protein 6

Known Diseases associated with this Protein:
  TUMOR PREDISPOSITION SYNDROME
3
9
3
1
8
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Peptidase_C12 - pfam01088


Swiss-Prot Protein: Q92560
Identical to: NP_004647
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Peptidase_C12pfam010888.1e-984217

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063498Polymorphismp.ALA95ASPN/A
Swiss-ProtVAR_065978Polymorphismp.CYS91TRPN/A
Swiss-ProtVAR_065979Polymorphismp.GLU315ALAN/A
Swiss-ProtVAR_065980Polymorphismp.GLU685VALN/A
Swiss-ProtVAR_063499Polymorphismp.GLY178VALN/A
Swiss-ProtVAR_065977Polymorphismp.PHE81VALN/A
Swiss-ProtVAR_065976Polymorphismp.SER63CYSN/A
dbSNPrs79014342 Polymorphismp.SER596GLYN/A
Swiss-ProtVAR_051517Polymorphismp.VAL616GLUN/A
OMIM603089.0007 Diseasep.GLN267TERTUMOR PREDISPOSITION SYNDROME
OMIM603089.0004 Diseasep.GLN684TERTUMOR PREDISPOSITION SYNDROME
OMIM603089.0008 Diseasep.THR93ALATUMOR PREDISPOSITION SYNDROME



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