Results for the protein: Q9H094

Results for the Protein: Q9H094

74733518

84224

NBPF3

NCBI, UniProt

NBPF3_HUMAN RecName: Full=Neuroblastoma breakpoint family member 3; AltName: Full=Protein AE2; AltName: Full=Protein SHIIIa4

			0 12 0 11 1

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Default View: DUF1220 - pfam06758	Swiss-Prot Protein: Q9H094 Identical to: NP_115640 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DUF1220	pfam06758	1.4e-26	322	385
DUF1220	pfam06758	2.1e-36	394	460
DUF1220	pfam06758	3.1e-41	469	535
DUF1220	pfam06758	7.2e-41	544	610

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16825377	Polymorphism	p.ARG198GLN	N/A
dbSNP	rs12043777	Polymorphism	p.ASP444GLU	N/A
dbSNP	rs72872297	Polymorphism	p.GLN212GLU	N/A
dbSNP	rs72872292	Polymorphism	p.GLU141ASP	N/A
dbSNP	rs3820292	Polymorphism	p.GLU430GLY	N/A
dbSNP	rs6691547	Polymorphism	p.GLU86LYS	N/A
dbSNP	rs202219980	Polymorphism	p.GLU524VAL	N/A
dbSNP	rs151217608	Polymorphism	p.HIS633GLN	N/A
Swiss-Prot	VAR_032375	Polymorphism	p.LEU459VAL	N/A
dbSNP	rs3820293	Polymorphism	p.PHE429SER	N/A
dbSNP	rs139757131	Polymorphism	p.PRO564ALA	N/A
dbSNP	rs1827293	Polymorphism	p.TYR114CYS	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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