Results for the protein: NP

Results for the Protein: NP_001166117

289547594

5332

PLCB4

NCBI

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
AURICULOCONDYLAR SYNDROME 2

9

2

9

2

0

Tips:

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Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PI-PLCc	cd00137	3.6e-91	312	680
PI-PLCc_eukaryota	cd08558	2.2e-196	312	680
PI-PLCc_delta	cd08593	6.7e-122	312	680
PI-PLCc_gamma	cd08592	3.2e-12	312	982
PI-PLCc_zeta	cd08595	3.7e-95	312	680
PI-PLCc_eta	cd08594	3.5e-81	312	680
PI-PLCc_epsilon	cd08596	3.5e-62	312	680
PI-PLCc_PRIP_metazoa	cd08597	8.7e-97	312	680
PI-PLCc_plant	cd08599	6.5e-51	312	680
PI-PLC1c_yeast	cd08598	5e-93	312	680
PI-PLCc_beta2	cd08624	3.3e-138	312	680
PI-PLCc_beta3	cd08625	7.8e-138	312	680
PI-PLCc_beta4	cd08626	4.5e-295	312	680
PI-PLCc_beta	cd08591	4e-279	312	680
PI-PLCc_delta1	cd08629	5.8e-89	312	680
PI-PLCc_gamma2	cd08628	3.3e-09	312	1025
PI-PLCc_beta1	cd08623	1.3e-128	312	680
PI-PLCc_delta4	cd08631	7.5e-85	312	680
PI-PLCc_eta1	cd08632	7.3e-66	312	680
PI-PLCc_eta2	cd08633	1.9e-65	312	680
PI-PLCc_delta3	cd08630	2.1e-88	312	680
PI-PLCc_gamma1	cd08627	8.9e-06	313	1033
PI-PLCc_GDPD_SF	cd08555	7.2e-31	325	663
C2_PLC_like	cd00275	6.2e-50	712	833
C2	cd00030	6.2e-09	715	823
PI-PLC-X	pfam00388	5.6e-94	315	464
PI-PLC-Y	pfam00387	8.2e-74	576	693
C2	pfam00168	1.1e-15	715	798
efhand_like	pfam09279	2.8e-44	221	312
PLCXc	smart00148	4.2e-72	313	453
PLCYc	smart00149	7.3e-75	578	692
C2	smart00239	3.7e-18	714	813
DUF1154	pfam06631	8.5e-25	921	967

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6077510	Polymorphism	p.ALA21THR	N/A
dbSNP	rs6108299	Polymorphism	p.SER1023PHE	N/A
OMIM	600810.0004	Disease	p.ARG633CYS	AURICULOCONDYLAR SYNDROME 2
OMIM	600810.0003	Disease	p.ARG633HIS	AURICULOCONDYLAR SYNDROME 2
OMIM	600810.0006	Disease	p.ARG633LEU	AURICULOCONDYLAR SYNDROME 2
OMIM	600810.0005	Disease	p.ASN662HIS	AURICULOCONDYLAR SYNDROME 2
OMIM	600810.0002	Disease	p.ASN329SER	AURICULOCONDYLAR SYNDROME 2
OMIM	600810.0008	Disease	p.ASP360ASN	AURICULOCONDYLAR SYNDROME 2
OMIM	600810.0009	Disease	p.ASP360VAL	AURICULOCONDYLAR SYNDROME 2
OMIM	600810.0007	Disease	p.GLU358VAL	AURICULOCONDYLAR SYNDROME 2
OMIM	600810.0001	Disease	p.TYR635CYS	AURICULOCONDYLAR SYNDROME 2

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