Results for the protein: Q7Z7G8

Results for the Protein: Q7Z7G8

308153515

157680

VPS13B

NCBI, UniProt

VP13B_HUMAN RecName: Full=Vacuolar protein sorting-associated protein 13B; AltName: Full=Cohen syndrome protein 1

Known Diseases associated with this Protein:
COHEN SYNDROME
COHEN SYNDROME (COH1)

14

11

8

3

14

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Default View: ATG_C - pfam09333	Swiss-Prot Protein: Q7Z7G8 Identical to: NP_060360 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_058749	Polymorphism	p.ALA829THR	N/A
dbSNP	rs75933366	Polymorphism	p.ARG1416GLN	N/A
Swiss-Prot	VAR_038424	Disease	p.ASN2993SER	Cohen syndrome (COH1)
dbSNP	rs6468694	Polymorphism	p.GLY3432ARG	N/A
Swiss-Prot	VAR_038423	Disease	p.GLY2645ASP	Cohen syndrome (COH1)
Swiss-Prot	VAR_058755	Disease	p.ILE2820THR	Cohen syndrome (COH1)
Swiss-Prot	VAR_058753	Polymorphism	p.ILE1994VAL	N/A
Swiss-Prot	VAR_017759	Disease	p.LEU2193ARG	Cohen syndrome (COH1)
Swiss-Prot	VAR_036325	Polymorphism	p.LEU3001VAL	N/A
Swiss-Prot	VAR_057750	Polymorphism	p.PRO1138LEU	N/A
Swiss-Prot	VAR_058757	Polymorphism	p.SER3142ARG	N/A
Swiss-Prot	VAR_058754	Disease	p.SER2773LEU	Cohen syndrome (COH1)
Swiss-Prot	VAR_038422	Disease	p.TYR2341CYS	Cohen syndrome (COH1)
Swiss-Prot	VAR_058756	Polymorphism	p.TYR2822CYS	N/A
dbSNP	rs7833870	Polymorphism	p.VAL2584ALA	N/A
Swiss-Prot	VAR_069429	Polymorphism	p.VAL2481ILE	N/A
Swiss-Prot	VAR_058750	Polymorphism	p.VAL866ILE	N/A
OMIM	607817.0003	Disease	p.ARG2351TER	COHEN SYNDROME
OMIM	607817.0006	Disease	p.ARG971TER	COHEN SYNDROME
OMIM	607817.0004	Disease	p.ASN2993SER	COHEN SYNDROME
OMIM	607817.0008	Disease	p.GLN3630TER	COHEN SYNDROME
OMIM	607817.0005	Disease	p.GLU1491TER	COHEN SYNDROME
OMIM	607817.0007	Disease	p.GLY2645ASP	COHEN SYNDROME
OMIM	607817.0010	Disease	p.ILE2820THR	COHEN SYNDROME
OMIM	607817.0002	Disease	p.LEU2193ARG	COHEN 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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