Results for the protein: Q12802

Results for the Protein: Q12802

134048676

11214

AKAP13

NCBI, UniProt

AKP13_HUMAN RecName: Full=A-kinase anchor protein 13; Short=AKAP-13; AltName: Full=AKAP-Lbc; AltName: Full=Breast cancer nuclear receptor-binding auxiliary protein; AltName: Full=Guanine nucleotide exchange factor Lbc; AltName: Full=Human thyroid-anchoring protein 31; AltName: Full=Lymphoid blast crisis oncogene; Short=LBC oncogene; AltName: Full=Non-oncogenic Rho GTPase-specific GTP exchange factor; AltName: Full=Protein kinase A-anchoring protein 13; Short=PRKA13; AltName: Full=p47

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Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: C1 - smart00109 C1 - cd00029 C1_1 - pfam00130 RhoGEF - cd00160 RhoGEF - smart00325 RhoGEF - pfam00621 PH - pfam00169 PH - smart00233 PH - cd00821	Swiss-Prot Protein: Q12802 Identical to: NP_009131 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RhoGEF	cd00160	2.3e-61	1995	2189
PH	cd00821	2.1e-09	2234	2331
C1_1	pfam00130	0.00021	1792	1842
RhoGEF	pfam00621	2.1e-50	1999	2190
PH	pfam00169	2.5e-11	2232	2333
C1	smart00109	9.8e-05	1792	1838
RhoGEF	smart00325	1.1e-60	1998	2190
PH	smart00233	1.8e-10	2232	2333

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2614668	Polymorphism	p.ALA2801THR	N/A
dbSNP	rs2061824	Polymorphism	p.ARG574CYS	N/A
dbSNP	rs4843075	Polymorphism	p.ASP1086ASN	N/A
dbSNP	rs75504327	Polymorphism	p.ASP1138GLY	N/A
dbSNP	rs61731243	Polymorphism	p.GLU1106GLY	N/A
dbSNP	rs7177107	Polymorphism	p.GLU689LYS	N/A
dbSNP	rs2241268	Polymorphism	p.GLY2457SER	N/A
dbSNP	rs745191	Polymorphism	p.GLY624VAL	N/A
dbSNP	rs78553737	Polymorphism	p.HIS2366GLN	N/A
Swiss-Prot	VAR_051986	Polymorphism	p.LYS526GLN	N/A
dbSNP	rs56156165	Polymorphism	p.LYS596GLU	N/A
dbSNP	rs7162168	Polymorphism	p.MET1216THR	N/A
dbSNP	rs2061821	Polymorphism	p.MET452THR	N/A
dbSNP	rs4843074	Polymorphism	p.PRO1062ALA	N/A
dbSNP	rs78778821	Polymorphism	p.PRO2392ARG	N/A
dbSNP	rs61734378	Polymorphism	p.PRO2708LEU	N/A
dbSNP	rs35079107	Polymorphism	p.SER1525GLY	N/A
dbSNP	rs2061822	Polymorphism	p.TRP494ARG	N/A
dbSNP	rs114705815	Polymorphism	p.TYR824PHE	N/A
dbSNP	rs4075256	Polymorphism	p.VAL845ALA	N/A
dbSNP	rs4075254	Polymorphism	p.VAL897MET	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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