Results for the protein: Q7Z6M1

Results for the Protein: Q7Z6M1

74750172

10244

RABEPK

NCBI, UniProt

RABEK_HUMAN RecName: Full=Rab9 effector protein with kelch motifs; AltName: Full=40 kDa Rab9 effector protein; AltName: Full=p40

			0 8 0 3 5

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Default View: Kelch_2 - pfam07646 Kelch_1 - pfam01344	Swiss-Prot Protein: Q7Z6M1 Identical to: NP_001167623, NP_005824 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Kelch_1	pfam01344	1e-05	242	287
Kelch_2	pfam07646	1.5e-12	30	82

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_031175	Polymorphism	p.ARG60GLY	N/A
Swiss-Prot	VAR_031178	Polymorphism	p.ASP313GLY	N/A
dbSNP	rs1128362	Polymorphism	p.HIS73TYR	N/A
Swiss-Prot	VAR_031179	Polymorphism	p.MET333ILE	N/A
Swiss-Prot	VAR_050058	Polymorphism	p.PRO58ALA	N/A
dbSNP	rs74769898	Polymorphism	p.PRO129GLN	N/A
dbSNP	rs34991596	Polymorphism	p.SER95CYS	N/A
Swiss-Prot	VAR_031176	Polymorphism	p.THR67PRO	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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