Results for the protein: Q8NEV8

Results for the Protein: Q8NEV8

296439360

23086

EXPH5

NCBI, UniProt

EXPH5_HUMAN RecName: Full=Exophilin-5; AltName: Full=Synaptotagmin-like protein homolog lacking C2 domains b; Short=SlaC2-b; Short=Slp homolog lacking C2 domains b

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Default View:	Swiss-Prot Protein: Q8NEV8 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_030541	Polymorphism	p.ARG328GLN	N/A
Swiss-Prot	VAR_030538	Polymorphism	p.ARG19GLY	N/A
Swiss-Prot	VAR_030539	Polymorphism	p.ARG118LEU	N/A
Swiss-Prot	VAR_030552	Polymorphism	p.ASN1967ASP	N/A
Swiss-Prot	VAR_030547	Polymorphism	p.ASN892TYR	N/A
Swiss-Prot	VAR_030549	Polymorphism	p.ASP1240ASN	N/A
Swiss-Prot	VAR_030545	Polymorphism	p.ASP777ASN	N/A
Swiss-Prot	VAR_030550	Polymorphism	p.CYS1311ARG	N/A
Swiss-Prot	VAR_057120	Polymorphism	p.GLU1656LYS	N/A
Swiss-Prot	VAR_030540	Polymorphism	p.GLU137VAL	N/A
Swiss-Prot	VAR_030551	Polymorphism	p.GLY1663ARG	N/A
Swiss-Prot	VAR_057121	Polymorphism	p.ILE1735PHE	N/A
Swiss-Prot	VAR_030546	Polymorphism	p.LEU853PRO	N/A
Swiss-Prot	VAR_057117	Polymorphism	p.MET1147ILE	N/A
Swiss-Prot	VAR_030542	Polymorphism	p.MET512LEU	N/A
Swiss-Prot	VAR_057118	Polymorphism	p.SER1236ALA	N/A
Swiss-Prot	VAR_030544	Polymorphism	p.SER676ASN	N/A
Swiss-Prot	VAR_057119	Polymorphism	p.THR1343ALA	N/A
Swiss-Prot	VAR_030548	Polymorphism	p.VAL899ALA	N/A
Swiss-Prot	VAR_030543	Polymorphism	p.VAL525PHE	N/A

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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