Results for the protein: NP

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PI4Kc_III	cd00893	0.0008	2668	3021
PI3Kc_like	cd00142	7.9e-109	2683	2955
PIKKc_ATR	cd00892	6e-77	2683	2962
PIKKc	cd05164	1.2e-164	2683	2955
TRRAP	cd05163	9.4e-07	2683	2962
PIKKc_TOR	cd05169	5.4e-48	2683	2962
PIKKc_ATM	cd05171	4.6e-224	2683	2962
PIKKc_SMG1	cd05170	5.8e-39	2683	2962
PIKKc_DNA-PK	cd05172	1.1e-36	2683	2962
PI4Kc_III_beta	cd05168	5.5e-05	2699	3010
PI4Kc_III_alpha	cd05167	0.00072	2755	3021
FAT	pfam02259	4.3e-71	2096	2489
PI3_PI4_kinase	pfam00454	3.7e-60	2714	2962
FATC	pfam02260	1.9e-13	3024	3056
TAN	pfam11640	3.5e-48	5	166
PI3Kc	smart00146	4.3e-106	2713	2965

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1801516	Polymorphism	p.ASP1853ASN	N/A
dbSNP	rs2234997	Polymorphism	p.ASP126GLU	N/A
dbSNP	rs2235000	Polymorphism	p.GLY514ASP	N/A
dbSNP	rs3092856	Polymorphism	p.HIS1380TYR	N/A
dbSNP	rs1800058	Polymorphism	p.LEU1420PHE	N/A
dbSNP	rs4988111	Polymorphism	p.LEU2332PRO	N/A
dbSNP	rs2227924	Polymorphism	p.LEU546VAL	N/A
dbSNP	rs3092857	Polymorphism	p.MET1040VAL	N/A
dbSNP	rs3218673	Polymorphism	p.PRO872SER	N/A
OMIM	607585.0033	Disease	p.ALA2067ASP	ATAXIA-TELANGIECTASIA VARIANT
OMIM	607585.0019	Disease	p.ARG2443TER	ATAXIA-TELANGIECTASIA
OMIM	607585.0012	Disease	p.ARG3047TER	ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
OMIM	607585.0008	Disease	p.ARG35TER	ATAXIA-TELANGIECTASIA
OMIM	607585.0009	Disease	p.ASP1682HIS	T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC
OMIM	607585.0024	Disease	p.GLN1361TER	MANTLE CELL LYMPHOMA, SOMATIC
OMIM	607585.0022	Disease	p.GLU2423GLY	MANTLE CELL LYMPHOMA
OMIM	607585.0011	Disease	p.LEU2656PRO	ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
OMIM	607585.0010	Disease	p.MET1040VAL	B-CELL NON-HODGKIN LYMPHOMA, SOMATIC
OMIM	607585.0006	Disease	p.PHE2827CYS	ATAXIA-TELANGIECTASIA VARIANT
OMIM	607585.0032	Disease	p.SER49CYS	BREAST CANCER, SUSCEPTIBILITY TO
OMIM	607585.0025	Disease	p.SER1770TER	T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC
OMIM	607585.0028 607585.0029	Disease	p.TYR2677CYS	ATAXIA-TELANGIECTASIA VARIANT
OMIM	607585.0005	Disease	p.VAL2424GLY	ATAXIA-TELANGIECTASIA VARIANT\|\|T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC, INCLUDED;;\|\|BREAST CANCER, SUSCEPTIBILITY TO, IN

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