Results for the protein: Q92560

Results for the Protein: Q92560

68565074

8314

BAP1

NCBI, UniProt

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

Tips:

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Default View: Peptidase_C12 - pfam01088	Swiss-Prot Protein: Q92560 Identical to: NP_004647 Default View:

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 ↕
Swiss-Prot	VAR_063498	Polymorphism	p.ALA95ASP	N/A
Swiss-Prot	VAR_065978	Polymorphism	p.CYS91TRP	N/A
Swiss-Prot	VAR_065979	Polymorphism	p.GLU315ALA	N/A
Swiss-Prot	VAR_065980	Polymorphism	p.GLU685VAL	N/A
Swiss-Prot	VAR_063499	Polymorphism	p.GLY178VAL	N/A
Swiss-Prot	VAR_065977	Polymorphism	p.PHE81VAL	N/A
Swiss-Prot	VAR_065976	Polymorphism	p.SER63CYS	N/A
dbSNP	rs79014342	Polymorphism	p.SER596GLY	N/A
Swiss-Prot	VAR_051517	Polymorphism	p.VAL616GLU	N/A
OMIM	603089.0007	Disease	p.GLN267TER	TUMOR PREDISPOSITION SYNDROME
OMIM	603089.0004	Disease	p.GLN684TER	TUMOR PREDISPOSITION SYNDROME
OMIM	603089.0008	Disease	p.THR93ALA	TUMOR PREDISPOSITION SYNDROME

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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