Results for the protein: Q14D04

Results for the Protein: Q14D04

121946695

79674

VEPH1

NCBI, UniProt

MELT_HUMAN RecName: Full=Ventricular zone-expressed PH domain-containing protein homolog 1; AltName: Full=Protein melted

			0 8 0 5 3

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Default View: PH - pfam00169 PH - smart00233 PH_MELT_VEPH1 - cd01264 PH-like - cd00900 PH - cd00821 - cd01246	Swiss-Prot Protein: Q14D04 Identical to: NP_001161384, NP_078897 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PH	cd00821	1.5e-13	719	817
PH-like	cd00900	7e-09	719	817
	cd01246	4.6e-05	719	817
PH	pfam00169	5.6e-16	717	819
PH	smart00233	8.6e-16	717	819

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16827563	Polymorphism	p.ARG365GLN	N/A
dbSNP	rs34823544	Polymorphism	p.LEU329VAL	N/A
Swiss-Prot	VAR_034695	Polymorphism	p.MET319VAL	N/A
Swiss-Prot	VAR_034692	Polymorphism	p.SER208CYS	N/A
dbSNP	rs1378795	Polymorphism	p.SER271CYS	N/A
Swiss-Prot	VAR_061683	Polymorphism	p.SER501LEU	N/A
dbSNP	rs11918974	Polymorphism	p.SER522PRO	N/A
dbSNP	rs1378796	Polymorphism	p.VAL263GLY	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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