Results for the protein: Q13535

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PI3Kc_like	cd00142	8.6e-118	2293	2560
PIKKc_ATR	cd00892	3.8e-215	2293	2567
PIKKc	cd05164	1e-175	2293	2560
TRRAP	cd05163	1.9e-10	2293	2567
PIKKc_TOR	cd05169	1.7e-49	2293	2567
PIKKc_SMG1	cd05170	2.7e-45	2293	2567
PIKKc_ATM	cd05171	2.9e-76	2293	2567
PIKKc_DNA-PK	cd05172	8.5e-50	2293	2567
PI4Kc_III	cd00893	0.00062	2300	2604
PI4Kc_III_alpha	cd05167	0.00027	2367	2604
FAT	pfam02259	2.3e-72	1771	2092
PI3_PI4_kinase	pfam00454	2.1e-100	2321	2567
FATC	pfam02260	3.6e-15	2612	2644
UME	pfam08064	5.8e-41	1119	1225
UME	smart00802	2e-44	1119	1225
PI3Kc	smart00146	5.4e-116	2323	2570

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_041594	Polymorphism	p.ALA2002GLY	N/A
Swiss-Prot	VAR_041591	Polymorphism	p.ALA1488PRO	N/A
dbSNP	rs2229032	Polymorphism	p.ARG2425GLN	N/A
Swiss-Prot	VAR_041593	Polymorphism	p.ASN1612SER	N/A
Swiss-Prot	VAR_067919	Disease	p.GLN2144ARG	Cutaneous telangiectasia and cancer syndrome, familial (FCTCS)
Swiss-Prot	VAR_041601	Polymorphism	p.GLU2537GLN	N/A
Swiss-Prot	VAR_041600	Polymorphism	p.GLU2438LYS	N/A
Swiss-Prot	VAR_041595	Polymorphism	p.GLY2120ALA	N/A
Swiss-Prot	VAR_041585	Polymorphism	p.HIS90TYR	N/A
Swiss-Prot	VAR_050533	Polymorphism	p.ILE1526VAL	N/A
Swiss-Prot	VAR_041586	Polymorphism	p.LYS297ASN	N/A
dbSNP	rs2227928	Polymorphism	p.MET211THR	N/A
dbSNP	rs33972295	Polymorphism	p.PRO2434ALA	N/A
Swiss-Prot	VAR_041592	Polymorphism	p.SER1607ASN	N/A
Swiss-Prot	VAR_041590	Polymorphism	p.SER1213GLY	N/A
Swiss-Prot	VAR_041597	Polymorphism	p.SER2233ILE	N/A
Swiss-Prot	VAR_041584	Polymorphism	p.THR64ALA	N/A
Swiss-Prot	VAR_041596	Polymorphism	p.TYR2132ASP	N/A
Swiss-Prot	VAR_041589	Polymorphism	p.TYR1087HIS	N/A
dbSNP	rs28897764	Polymorphism	p.VAL316ILE	N/A
dbSNP	rs28910271	Polymorphism	p.VAL959MET	N/A
OMIM	601215.0003	Disease	p.ASP1879TYR	SECKEL SYNDROME 1
OMIM	601215.0002	Disease	p.GLN2144ARG	CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL

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