AiPD: Autoinhibited Protein Database

Q9NQ66

Gene name	PLCB1
Protein name	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
Names	PLC-154, Phosphoinositide phospholipase C-beta-1, Phospholipase C-I, PLC-I, Phospholipase C-beta-1, PLC-beta-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23236
EC number	3.1.4.11: Phosphoric diester hydrolases
Protein Class	PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE C FAMILY PROTEIN (PTHR10336)

Descriptions

PLCB1 catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3), and mediates intracellular signaling downstream of G protein-coupled receptors. Autoinhibitory region is a portion of the linker that separates the conserved X and Y boxes comprising the catalytic TIM barrel, at residues 468-539, and occludes the active site of PLCB1. The active site of a PLC isozyme toward phospholipid membranes should force the negatively charged X/Y linker away from the active site, therein relieving autoinhibition of the enzyme.

Autoinhibitory domains (AIDs)

Target domain	316-656 (TIM barrel)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

518-533 (the ordered region of X/Y linker)

Target domain

316-656 (TIM barrel)

Relief mechanism

Partner binding (Binding of heterotrimeric G proteins and Ras-like GTPases)

Assay

Deletion assay

Accessory elements

No accessory elements

References

Hicks SN et al. (2008) "General and versatile autoinhibition of PLC isozymes", Molecular cell, 31, 383-94

Lyon AM et al. (2014) "Molecular mechanisms of phospholipase C β3 autoinhibition", Structure (London, England : 1993), 22, 1844-1854

Autoinhibited structure

Activated structure

1 structures for Q9NQ66

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NQ66-F1	Predicted				AlphaFoldDB

663 variants for Q9NQ66

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000467295 CA9759517 rs150241349	10	A>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2051304754 RCV001049786	23	K>E	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
CA9759534 RCV001057764 rs772081862	30	K>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA9759570 RCV000687316 rs751520312	39	T>I	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs191106606 RCV000648409 CA9759573	41	I>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA408261993 rs1555777814 RCV000648418	99	E>Q	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001217731 COSM1317103 rs868772684 COSM145782 CA311672842	101	R>C	Developmental and epileptic encephalopathy, 12 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
CA311672843 rs748150163 RCV000576191 COSM131276	109	P>S	Developmental and epileptic encephalopathy, 12 liver [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV000691562 CA9759708 rs749130736	167	G>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200567140 CA9759817 RCV000720772 RCV000550702	242	V>I	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs780585750 CA9759819 RCV000697799	245	M>I	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA408264230 RCV000699184 rs1568549591	261	I>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA408264401 RCV000688579 rs1420410909	286	R>K	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA9759848 RCV000648430 rs149661663	297	R>C	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000792239 rs775904184 CA9759849	297	R>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
COSM3389939 RCV000541148 COSM3389938 rs373633394 CA9759853	307	V>I	Developmental and epileptic encephalopathy, 12 pancreas [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000648405 rs1224516482 CA408197381	360	V>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000728373 CA9759945 RCV000692700 rs146833633	478	G>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000341113 rs45608240 RCV000192006 CA205039 RCV000717151 RCV000460186	490	Y>C	Developmental and epileptic encephalopathy, 12 Early Infantile Epileptic Encephalopathy, Autosomal Recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9759954 RCV000648421 rs752634021	497	F>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9759984 rs764250569 RCV000701050	513	D>N	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs138851178 RCV000287186 CA9759993	525	M>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000802934 CA408203409 rs1600278094	538	E>*	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000648415 rs1555786069 CA408203515	553	E>Q	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1319493393 CA408204043 RCV000690068	562	N>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000648413 CA408204107 rs1394924865	571	V>M	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1568574949 CA408204178 RCV000701839	581	K>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA408204281 rs1334933670 RCV000648432	588	E>D	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1555786704 RCV000662193 CA408205531	647	G>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000687873 CA9760123 rs772981786	670	V>I	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA408205851 rs1555786715 RCV000576238	672	G>E	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000768047 rs1568577135	679	S>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000716027 RCV000224224 CA154266 rs61755434 RCV000355340 RCV000117924	731	P>A	Early Infantile Epileptic Encephalopathy, Autosomal Recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1194618095 RCV000576262 CA408207765	760	R>C	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA9760178 RCV000559018 rs377440334	760	R>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10653455 RCV000285452 rs886056964	796	K>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA408208284 rs1568580795 RCV000691754	817	V>M	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA9760239 RCV000648414 rs146646749	825	K>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs141433824 CA242464 RCV000176492 RCV001081834	850	E>D	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000648424 rs753642857 CA9760312	853	S>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000732639 COSM444278 RCV000718310 RCV000702174 rs184436336 RCV000285752 CA9760315 COSM444277	857	T>M	Developmental and epileptic encephalopathy, 12 Early Infantile Epileptic Encephalopathy, Autosomal Recessive breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001222285 rs1981778719	873	K>N	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000576285 rs1274123563 CA408207436	884	A>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs775341189 RCV000648420 CA408208050	903	T>K	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000694509 rs758788229 CA9760383	929	E>Q	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000735078 RCV000460647 CA9760428 rs371547145	983	P>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000337176 rs780463144 CA9760434	995	A>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001142568 rs1982854661	998	D>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs1023330264 CA311269214 RCV001142569	1020	R>W	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs780373377 RCV000648408 CA9760450	1032	R>Q	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000688732 CA9760464 rs762562905	1038	L>F	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001333828 rs778097231 CA9760472	1046	A>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9760474 rs771219955 RCV000465178	1058	K>E	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1983606408 RCV001140057	1080	I>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs148936543 CA9760538 RCV000691879	1116	A>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA408210108 rs1555790846 RCV000656063	1128	H>Y	Childhood epilepsy with centrotemporal spikes [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000532786 CA9760552 rs758111758	1141	K>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA408262914 RCV001242466 rs1265159999	1150	Y>C	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs200309017 COSM236829 CA9760640 RCV000576243	1178	N>S	Developmental and epileptic encephalopathy, 12 prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs190019296 RCV000716999 RCV000555682 CA9760656	1197	T>I	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200558916 CA9760658 RCV000539891	1202	E>D	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs754119167 RCV001140814 CA9760662	1207	I>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA205333 RCV000192490 rs138077430 RCV000476336	1215	P>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA408260809 rs1339304568	3	G>R		No	ClinGen gnomAD
CA408260815 rs1340979235	4	A>T		No	ClinGen gnomAD
rs781650706 RCV000591863 CA9759510	5	Q>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA408260836 rs1243067766	7	G>E		No	ClinGen gnomAD
CA9759513 rs779498723	7	G>R		No	ClinGen ExAC gnomAD
CA408260841 RCV000733912 rs1568564187	8	V>L		No	ClinGen ClinVar Ensembl dbSNP
CA9759516 rs774138539	9	H>Q		No	ClinGen ExAC gnomAD
CA9759514 rs768579124	9	H>R		No	ClinGen ExAC gnomAD
CA408260854 rs1568564198	10	A>G		No	ClinGen Ensembl
CA9759518 rs150241349	10	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9759519 rs759794686	11	L>V		No	ClinGen ExAC TOPMed gnomAD
CA9759520 rs770148573	12	Q>L		No	ClinGen ExAC gnomAD
CA408260879 rs1350311641	14	K>R		No	ClinGen TOPMed
CA408260890 rs1436694041	16	V>E		No	ClinGen gnomAD
rs751980461 CA9759524	16	V>L		No	ClinGen ExAC gnomAD
rs1294713187 CA408260904	18	V>A		No	ClinGen TOPMed gnomAD
CA408260903 rs1294713187	18	V>G		No	ClinGen TOPMed gnomAD
CA311618444 rs750480706	18	V>M		No	ClinGen Ensembl
CA408260911 rs1353063922	19	S>F		No	ClinGen gnomAD
rs767819697 CA9759526	20	D>G		No	ClinGen ExAC gnomAD
rs1382681255 CA408260914	20	D>Y		No	ClinGen TOPMed
CA408260925 rs1256957868	21	S>R		No	ClinGen gnomAD
rs750815075 CA9759527	22	L>F		No	ClinGen ExAC gnomAD
rs755695445 CA9759528	23	K>R		No	ClinGen ExAC gnomAD
rs755695445 CA9759529	23	K>T		No	ClinGen ExAC gnomAD
RCV000173446 RCV000720091 CA238900 rs753543778	25	G>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9759530 rs753543778	25	G>S		No	ClinGen ExAC TOPMed gnomAD
CA408260953 rs1465720337	26	T>N		No	ClinGen gnomAD
rs747990888 CA9759533 COSM419294 COSM419293	28	F>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs377750225 CA9759567	36	T>A		No	ClinGen ESP ExAC gnomAD
rs1483945896 CA408261708	36	T>S		No	ClinGen TOPMed gnomAD
rs763738803 CA9759569	39	T>A		No	ClinGen ExAC gnomAD
CA9759571 rs751520312	39	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1471447131 CA408261728	40	P>S		No	ClinGen TOPMed
rs779179898 CA408261763	45	T>I		No	ClinGen ExAC gnomAD
rs779179898 CA9759575	45	T>S		No	ClinGen ExAC gnomAD
rs1219708619 CA408261785	48	Q>H		No	ClinGen TOPMed
rs1294365994 CA408261783	48	Q>L		No	ClinGen TOPMed
CA408261791 rs1412123237	49	G>E		No	ClinGen gnomAD
CA408261793 rs1321304969	50	F>L		No	ClinGen TOPMed
CA311620470 rs988072254	51	F>V		No	ClinGen TOPMed gnomAD
rs1007818692 CA311620471	52	F>S		No	ClinGen Ensembl
rs1225480503 CA408261857	58	N>S		No	ClinGen TOPMed
CA9759598 rs781721863	61	T>A		No	ClinGen ExAC gnomAD
CA9759599 rs746402927	61	T>I		No	ClinGen ExAC gnomAD
CA408262236 rs1224746668	65	D>Y		No	ClinGen TOPMed gnomAD
rs775742325 CA9759601	67	S>N		No	ClinGen ExAC TOPMed gnomAD
rs761393253 CA9759606	78	A>T		No	ClinGen ExAC TOPMed gnomAD
rs576454125 CA311644995	79	K>R		No	ClinGen gnomAD
CA9759607 rs766999339	80	A>G		No	ClinGen ExAC gnomAD
CA311644996 rs946284642	80	A>T		No	ClinGen TOPMed
CA408262352 rs1600350860	82	K>R		No	ClinGen Ensembl
rs1235143487 CA408261892	83	D>N		No	ClinGen gnomAD
CA9759636 rs781293608	84	P>H		No	ClinGen ExAC gnomAD
rs781293608 CA408261904	84	P>L		No	ClinGen ExAC gnomAD
rs1158096358 CA408261922	87	R>C		No	ClinGen gnomAD
rs750475493 CA9759637	87	R>H		No	ClinGen ExAC TOPMed gnomAD
CA408261948 rs1426617271	91	D>Y		No	ClinGen gnomAD
CA311672838 rs1053243943	94	N>S		No	ClinGen Ensembl
rs199888561 CA311672839	95	I>V		No	ClinGen Ensembl
rs375710411 CA311672841	96	G>E		No	ClinGen ESP TOPMed
COSM1220894 CA311672840 COSM1220895 rs200016726	96	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
COSM1220894 CA408261979 COSM1220895 rs200016726	96	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
CA9759642 rs778824465	97	R>C		No	ClinGen ExAC gnomAD
COSM295564 CA9759643 COSM295565 rs747785129	97	R>H	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1413307 rs746490695 CA9759646 COSM1413306	101	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1206357711 CA408262016	102	M>T		No	ClinGen gnomAD
rs1285712007 CA408262023	103	I>F		No	ClinGen TOPMed
rs1181797347 CA408262040	106	V>M		No	ClinGen gnomAD
CA9759650 rs764962978	107	Y>C		No	ClinGen ExAC gnomAD
CA9759649 rs759519379 COSM1632404 COSM1632403	107	Y>H	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA311672844 rs373051695	111	L>F		No	ClinGen ESP
rs767645234 CA9759653	112	V>M		No	ClinGen ExAC gnomAD
CA9759654 rs561450964	114	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA311672846 rs965963245	116	H>Q		No	ClinGen TOPMed gnomAD
rs1018596939 CA311672845	116	H>Y		No	ClinGen TOPMed gnomAD
CA9759660 rs779377929	127	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1195565009 CA408262187	128	K>R		No	ClinGen gnomAD
rs938619379 CA311674836	129	E>K		No	ClinGen TOPMed gnomAD
CA408262407 rs1199339071	134	V>F		No	ClinGen gnomAD
CA408262411 rs1431087432	134	V>G		No	ClinGen gnomAD
CA408262406 rs1199339071	134	V>I		No	ClinGen gnomAD
rs201510657 CA311674838	136	S>C		No	ClinGen Ensembl
CA311674837 rs201510657	136	S>G		No	ClinGen Ensembl
rs1479420339 CA408262433	138	A>T		No	ClinGen gnomAD
CA408262446 rs1464006262	140	N>D		No	ClinGen gnomAD
rs1454928254 CA408262459	142	L>V		No	ClinGen gnomAD
rs1286566962 CA408262463	143	A>T		No	ClinGen gnomAD
CA408262481 rs1386931576	145	N>S		No	ClinGen gnomAD
rs1332110491 CA408262485	146	M>L		No	ClinGen TOPMed
CA9759679 rs760049895	146	M>T		No	ClinGen ExAC gnomAD
CA408262501 rs1402621843	148	R>K		No	ClinGen TOPMed
CA408262506 rs1283251379	148	R>S		No	ClinGen gnomAD
RCV000117918 RCV000514005 RCV000716417 rs45496299 CA154255	153	E>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148738915 CA408262555	155	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9759682 rs148738915	155	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA408262574 rs1208542852	156	Y>C		No	ClinGen gnomAD
rs202085165 CA408262617	162	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1175470388 CA408262631	165	P>T		No	ClinGen gnomAD
COSM724677 COSM724678 CA9759710 rs142186851	168	R>C	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM1413308 rs1423560967 COSM1413309 CA408262652	168	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1534119 COSM1534120 rs142186851 CA408262651	168	R>S	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs772061885 CA9759712	172	K>R		No	ClinGen ExAC gnomAD
CA9759731 rs758248785	174	I>M		No	ClinGen ExAC gnomAD
CA9759730 rs748138827	174	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9759732 rs777737218	176	R>H		No	ClinGen ExAC TOPMed gnomAD
rs866829943 CA311675149	180	A>E		No	ClinGen Ensembl
rs746051075 CA9759733	182	R>Q		No	ClinGen ExAC gnomAD
rs1238823063 COSM180092 CA408262755	182	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs770826618 CA311675150	184	R>*		No	ClinGen gnomAD
rs770060111 CA9759734	184	R>L		No	ClinGen ExAC gnomAD
rs770060111 CA408262769 COSM233117	184	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1009176018 CA311675151	187	T>A		No	ClinGen TOPMed gnomAD
CA408262794 rs1470831200	188	A>V		No	ClinGen gnomAD
rs78758453 CA9759736	192	C>F		No	ClinGen ExAC gnomAD
CA9759737 rs78758453	192	C>Y		No	ClinGen ExAC gnomAD
CA9759738 rs774806833	193	S>C		No	ClinGen ExAC gnomAD
CA408262860 rs774806833	193	S>G		No	ClinGen ExAC gnomAD
rs1185284973 CA408263818	202	I>M		No	ClinGen TOPMed
rs1024764114 CA311675929	202	I>V		No	ClinGen Ensembl
rs1368085713 CA408263844	206	D>A		No	ClinGen gnomAD
rs1358940714 CA408263849	207	F>I		No	ClinGen TOPMed gnomAD
CA408263850 rs1358940714	207	F>V		No	ClinGen TOPMed gnomAD
rs762549878 CA9759783	208	T>I		No	ClinGen ExAC gnomAD
CA9759786 rs200713241	213	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA9759787 rs140899287 RCV000716630	213	R>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA408263920 rs1600230228	217	N>K		No	ClinGen Ensembl
rs1032443644 CA311675930	217	N>S		No	ClinGen Ensembl
CA311675931 rs546645386	219	L>F		No	ClinGen gnomAD
CA311675932 rs990536521	222	R>*		No	ClinGen TOPMed gnomAD
rs990536521 CA408263949	222	R>G		No	ClinGen TOPMed gnomAD
CA9759789 rs755135706	222	R>L		No	ClinGen ExAC gnomAD
CA408263950 rs755135706	222	R>Q		No	ClinGen ExAC gnomAD
rs1255392473 CA408263988	227	N>K		No	ClinGen TOPMed
rs1600230250 CA408263990	228	I>V		No	ClinGen Ensembl
CA408264061 rs1367561790	236	S>N		No	ClinGen TOPMed
CA9759814 rs751604098	237	K>Q		No	ClinGen ExAC gnomAD
rs1600231029 CA408264083	239	Y>F		No	ClinGen Ensembl
CA408264089 rs1199849266	240	L>F		No	ClinGen gnomAD
rs13041270 CA311676056	243	D>E		No	ClinGen Ensembl
CA9759818 rs372097607	243	D>N		No	ClinGen ESP ExAC gnomAD
rs13037181 CA311676055	243	D>V		No	ClinGen Ensembl
rs372097607 CA408264105	243	D>Y		No	ClinGen ESP ExAC gnomAD
CA408264119 rs1323446827	245	M>L		No	ClinGen TOPMed gnomAD
rs375123870 CA9759820	246	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs915149176 CA311676057	246	M>T		No	ClinGen TOPMed
rs1489612712 CA408264163	251	L>F		No	ClinGen TOPMed
rs768195394 CA9759821	251	L>R		No	ClinGen ExAC gnomAD
CA9759822 rs773850585	254	R>*		No	ClinGen ExAC gnomAD
CA408264202 rs1419504867	257	R>W		No	ClinGen TOPMed gnomAD
rs747598560 CA9759823	263	Y>H		No	ClinGen ExAC gnomAD
CA311676058 rs868054064	265	P>S		No	ClinGen Ensembl
CA311676059 rs369226956	266	L>P		No	ClinGen ESP
CA408264286 rs1222914240 RCV000712708	269	E>D		No	ClinGen ClinVar TOPMed dbSNP
CA408264280 rs1444799199	269	E>K		No	ClinGen gnomAD
rs771679021 CA9759824	270	Q>H		No	ClinGen ExAC gnomAD
CA408264295 rs1301170263	271	V>I		No	ClinGen gnomAD
CA408264301 rs1336498457	272	Q>K		No	ClinGen gnomAD
CA9759826 rs760653580	273	V>I		No	ClinGen ExAC gnomAD
CA408264345 rs1282583428	278	Y>H		No	ClinGen TOPMed
rs1353190818 CA408264360	280	P>S		No	ClinGen gnomAD
CA408264372 rs1222987859	281	N>K		No	ClinGen gnomAD
CA311676060 rs971843977	283	S>G		No	ClinGen Ensembl
CA311676061 rs977454777	283	S>N		No	ClinGen Ensembl
CA408264390 rs1293584562	284	L>F		No	ClinGen gnomAD
CA408264395 rs776416226	285	A>S		No	ClinGen ExAC TOPMed gnomAD
rs776416226 CA9759828	285	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1251117569 CA408264398	285	A>V		No	ClinGen gnomAD
rs770870459 CA9759845	290	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9759846 rs370605921	292	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA408193853 rs141935046	293	D>E		No	ClinGen ESP ExAC gnomAD
CA408193867 rs1339002472	294	G>A		No	ClinGen gnomAD
CA408193903 rs1421285413	296	M>I		No	ClinGen TOPMed
rs1395276749 CA408193888	296	M>V		No	ClinGen gnomAD
CA408193928 rs775904184	297	R>L		No	ClinGen TOPMed gnomAD
rs774418267 CA9759851	302	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1323673112 CA408194080	305	G>E		No	ClinGen gnomAD
RCV000269706 CA9759852 rs370525961 COSM1220901 COSM1220900	305	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA311225178 rs368967370	309	P>S		No	ClinGen ESP TOPMed
CA408194190 rs1354841973	312	L>V		No	ClinGen TOPMed
CA311225208 rs868140397	313	D>N		No	ClinGen Ensembl
CA9759857 rs755265437	319	S>F		No	ClinGen ExAC gnomAD
CA408194369 rs1423512590	319	S>T		No	ClinGen gnomAD
CA408194379 COSM227649 rs1178633001	320	Q>*	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA311225246 rs267606062	321	P>L		No	ClinGen Ensembl
rs1308729547 COSM230401 CA408197201	350	R>C	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
rs909616713 CA311235442	350	R>H		No	ClinGen Ensembl
CA9759876 COSM1220897 rs753121532 COSM1220896	353	L>F	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA408197392 rs1224516482	360	V>M		No	ClinGen TOPMed gnomAD
CA311235493 rs905635731	364	C>S		No	ClinGen TOPMed
CA408197614 rs1378563988	368	R>Q		No	ClinGen TOPMed
CA9759879 rs751256923	368	R>W		No	ClinGen ExAC TOPMed gnomAD
CA311235524 rs201807011	376	I>T		No	ClinGen 1000Genomes
CA408197808 rs1360874804	381	T>S		No	ClinGen TOPMed
rs1600258502 CA408197930	388	F>C		No	ClinGen Ensembl
CA311242925 rs867365420	393	E>K		No	ClinGen Ensembl
CA311242926 rs564559831	395	I>V		No	ClinGen gnomAD
rs1362519682 CA408198541	396	A>V		No	ClinGen TOPMed gnomAD
CA9759900 rs780031971	397	E>A		No	ClinGen ExAC gnomAD
rs1316183120 CA408198554	397	E>D		No	ClinGen gnomAD
CA408198569 rs1198061937	398	C>Y		No	ClinGen gnomAD
rs1444278570 CA408198633	404	P>S		No	ClinGen gnomAD
CA9759902 rs546265226	407	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1029319 COSM1029318 rs867281730 CA311242950	410	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA408198775 rs1248775636	414	H>D		No	ClinGen TOPMed
CA408198778 rs1197845103	414	H>R		No	ClinGen TOPMed
COSM1413313 CA9759905 COSM1413312 rs559611655	417	S>F	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs778782867 CA9759920	422	A>T		No	ClinGen ExAC TOPMed gnomAD
CA408200046 rs1171674168	425	A>V		No	ClinGen gnomAD
rs551873449 CA9759922	429	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs551873449 CA408200137	429	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1022261138 CA311246889	435	A>T		No	ClinGen Ensembl
CA408200218 rs1399995258	436	L>I		No	ClinGen gnomAD
rs1296485844 CA408200269	438	M>I		No	ClinGen TOPMed
rs987490448 CA311246892	438	M>V		No	ClinGen TOPMed gnomAD
CA9759924 rs746127346	439	E>D		No	ClinGen ExAC TOPMed gnomAD
CA408200345 rs1356153164	442	E>K		No	ClinGen TOPMed
CA408200390 rs1170958192	443	K>R		No	ClinGen TOPMed
CA408200425 rs1568571093 RCV000760876	444	Y>*		No	ClinGen ClinVar Ensembl dbSNP
CA408200722 rs1360644643	449	G>E		No	ClinGen TOPMed
CA9759940 rs777452326	456	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1413281591 CA408200908	457	D>Y		No	ClinGen TOPMed
CA9759941 rs750621906	459	M>V		No	ClinGen ExAC gnomAD
COSM78313 rs1600272774 CA408200992	460	Y>C	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
CA408201046 rs1404972775	462	I>V		No	ClinGen TOPMed
CA9759942 rs756296631	463	L>M		No	ClinGen ExAC gnomAD
rs765820615 CA311247640	464	V>L		No	ClinGen Ensembl
rs1208741312 CA408201224	470	S>T		No	ClinGen gnomAD
rs201789409 CA9759943	472	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs368448785 CA408201267	472	K>R		No	ClinGen ESP TOPMed gnomAD
CA311247644 rs368448785	472	K>T		No	ClinGen ESP TOPMed gnomAD
rs896514396 CA311247655	473	S>P		No	ClinGen TOPMed
rs1176438846 CA408201332	477	S>G		No	ClinGen gnomAD
CA408201342 rs758504402	477	S>R		No	ClinGen TOPMed gnomAD
CA9759944 rs749354249 RCV000597129	478	G>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1038628707 CA311247689	481	K>N		No	ClinGen Ensembl
rs748699747 CA9759948	482	L>I		No	ClinGen ExAC gnomAD
rs1163169411 CA408201428	482	L>P		No	ClinGen TOPMed gnomAD
CA9759947 rs748699747	482	L>V		No	ClinGen ExAC gnomAD
CA408201476 rs1449048085	486	A>G		No	ClinGen gnomAD
rs1449048085 CA408201477	486	A>V		No	ClinGen gnomAD
rs1376374003 CA408201484	487	S>F		No	ClinGen gnomAD
CA9759951 rs770501311	488	N>S		No	ClinGen ExAC gnomAD
CA311247708 rs13043353	489	T>P		No	ClinGen Ensembl
CA311247711 rs13042803	490	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1338478101 CA408201503	490	Y>N		No	ClinGen TOPMed
rs754446491 CA311247715	491	S>N		No	ClinGen Ensembl
rs1319451536 CA408201525	492	D>N		No	ClinGen TOPMed gnomAD
CA9759953 rs779036630	496	M>T		No	ClinGen ExAC gnomAD
rs1342827126 CA408201622	499	P>L		No	ClinGen TOPMed
rs763886018 CA9759956	501	S>A		No	ClinGen ExAC gnomAD
CA311247724 rs200375635	501	S>C		No	ClinGen 1000Genomes
rs763886018 CA9759957	501	S>T		No	ClinGen ExAC gnomAD
rs757137361 CA311247731	503	G>A		No	ClinGen ExAC TOPMed gnomAD
rs757137361 CA9759958	503	G>E		No	ClinGen ExAC TOPMed gnomAD
CA9759959 rs766580742	504	A>V		No	ClinGen ExAC gnomAD
CA9759978 rs767347184	505	G>E		No	ClinGen ExAC gnomAD
rs150686631 CA9759979	509	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408202907 rs1228612890	512	D>H		No	ClinGen TOPMed
rs199565459 CA9759985	513	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs941680744 CA311250976	513	D>G		No	ClinGen TOPMed
rs781714752 CA408202925	514	D>E		No	ClinGen ExAC TOPMed gnomAD
rs757649827 COSM2933763 CA9759987 COSM2933762	514	D>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1568573426 CA408202929	515	D>G		No	ClinGen Ensembl
CA9759989 COSM3841589 COSM3841590 rs745450384	515	D>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA408202940 rs1411766297	516	D>E		No	ClinGen TOPMed
CA9759991 rs150189968	517	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs367767018 CA9759992	520	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA408202995 rs1258175381	524	S>P		No	ClinGen TOPMed
rs138851178 CA408203006	525	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408203036 rs1382012338	527	E>V		No	ClinGen gnomAD
rs762045157 CA9760021	535	M>T		No	ClinGen ExAC gnomAD
CA311252768 rs866491579	536	A>T		No	ClinGen Ensembl
rs149364174 CA9760022	539	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs751011428 CA9760023	542	N>H		No	ClinGen ExAC gnomAD
rs1158119382 CA408203481	548	Q>L		No	ClinGen TOPMed
CA408203513 rs1397696404	552	F>L		No	ClinGen gnomAD
CA9760025 rs780486430	557	I>F		No	ClinGen ExAC gnomAD
rs745674166 CA9760053	562	N>K		No	ClinGen ExAC TOPMed gnomAD
CA9760054 rs769521877	564	S>N		No	ClinGen ExAC TOPMed gnomAD
CA408204073 rs1568574925	566	E>G		No	ClinGen Ensembl
rs1600279991 CA408204146 RCV000997740	577	E>K		No	ClinGen ClinVar Ensembl dbSNP
CA408204292 rs1166307688	589	Y>F		No	ClinGen gnomAD
rs1457373665 CA408204328	592	M>L		No	ClinGen TOPMed gnomAD
rs370981396 CA9760085	595	S>R		No	ClinGen ESP ExAC gnomAD
CA408204450 rs1243706425	604	V>M		No	ClinGen TOPMed
rs750330588 CA9760088	612	Q>H		No	ClinGen ExAC gnomAD
CA408204755 rs1441152862	629	M>V		No	ClinGen TOPMed
CA408205335 rs1373381067	632	A>G		No	ClinGen gnomAD
rs1239114279 CA408205385	637	M>T		No	ClinGen TOPMed
CA408205448 rs751738226	641	E>D		No	ClinGen ExAC gnomAD
rs781536705 CA9760114	644	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9760116 rs540046473	647	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs200073364 CA9760117	648	Y>*		No	ClinGen ExAC gnomAD
rs1219807693 CA408205545	649	R>G		No	ClinGen gnomAD
rs749821273 CA9760118	649	R>K		No	ClinGen ExAC gnomAD
rs1318131637 CA408205562	650	L>F		No	ClinGen TOPMed
rs1210845955 CA408205554	650	L>M		No	ClinGen gnomAD
CA9760120 rs369668806	654	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369668806 CA9760119	654	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA408205608 rs1600284173	654	F>V		No	ClinGen Ensembl
rs1337670737 CA408205638	656	R>G		No	ClinGen TOPMed
CA408205701 rs1555786711 RCV000594001	660	K>N		No	ClinGen ClinVar Ensembl dbSNP
CA9760122 rs771607069	664	P>A		No	ClinGen ExAC gnomAD
CA311258157 rs771607069	664	P>S		No	ClinGen ExAC gnomAD
CA9760124 rs760229674	673	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9760126 rs776660417	681	K>R		No	ClinGen ExAC gnomAD
CA408206457 rs1322432859	682	I>V		No	ClinGen gnomAD
COSM109514 rs140292070 CA311261039	688	L>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA9760147 rs770524710	695	T>I		No	ClinGen ExAC gnomAD
rs1199490760 CA408206613	696	Y>C		No	ClinGen gnomAD
rs759175438 CA9760148	697	V>M		No	ClinGen ExAC gnomAD
rs978185234 CA311261149	712	A>S		No	ClinGen TOPMed
CA408206846 rs1381192207	712	A>V		No	ClinGen TOPMed
rs1465878631 CA408206938	717	T>I		No	ClinGen gnomAD
CA311261166 rs1033020142	724	N>K		No	ClinGen Ensembl
CA9760153 rs762968564	724	N>S		No	ClinGen ExAC TOPMed gnomAD
rs756337847 CA9760154	726	V>I		No	ClinGen ExAC gnomAD
RCV000454325 rs1060499765 CA16609545	727	W>R		No	ClinGen ClinVar Ensembl dbSNP
CA311261185 rs866425965	729	E>K		No	ClinGen Ensembl
CA408207197 rs1400735874	734	F>L		No	ClinGen gnomAD
CA311263171 COSM233118 rs267606063 COSM1713181	740	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1272176028 CA408207635	741	T>A		No	ClinGen gnomAD
rs1213789048 CA408207654	744	C>Y		No	ClinGen gnomAD
rs757735758 CA9760177	746	R>G		No	ClinGen ExAC
rs1349745410 RCV000720281 CA408207673	747	I>V		No	ClinGen ClinVar dbSNP gnomAD
CA311263179 rs746878586	750	Y>C		No	ClinGen Ensembl
CA408207720 rs1256661369	754	G>S		No	ClinGen gnomAD
rs1350964561 CA408207737	756	F>C		No	ClinGen TOPMed
CA408207746 rs1488351224	757	I>T		No	ClinGen gnomAD
CA408207754 rs1600288746	758	G>A		No	ClinGen Ensembl
CA408207760 rs1255005106	759	H>L		No	ClinGen TOPMed
CA311263193 COSM1029324 rs202079822	762	L>F	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA408207788 rs1265175921	764	V>L		No	ClinGen gnomAD
CA9760179 rs745553901	767	I>T		No	ClinGen ExAC gnomAD
rs1476803730 CA408207815	768	R>Q		No	ClinGen gnomAD
rs948237591 CA311264240	773	Y>C		No	ClinGen TOPMed gnomAD
CA408207862 rs948237591	773	Y>F		No	ClinGen TOPMed gnomAD
CA311264241 rs932768950	774	I>V		No	ClinGen TOPMed gnomAD
CA408207874 rs1209875193	775	C>Y		No	ClinGen gnomAD
CA408207881 rs1600289609	776	L>Q		No	ClinGen Ensembl
CA311264242 rs6086575	777	R>K		No	ClinGen Ensembl
CA408207900 rs1466818299	779	E>K		No	ClinGen gnomAD
rs746020507 CA9760208	781	N>T		No	ClinGen ExAC gnomAD
CA9760209 rs770050149	783	P>L		No	ClinGen ExAC gnomAD
CA311264280 rs112272450	784	L>P		No	ClinGen Ensembl
CA9760210 RCV000717214 rs202199288	785	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA311264300 rs1003811907	788	A>V		No	ClinGen Ensembl
rs764289110 CA9760212	791	V>D		No	ClinGen ExAC gnomAD
rs1460129449 CA408208118	793	I>M		No	ClinGen gnomAD
rs774957366 CA9760213	793	I>T		No	ClinGen ExAC gnomAD
CA311264333 rs780990860	800	P>L		No	ClinGen Ensembl
rs377053037 RCV000501076 CA311264334	802	T>I		No	ClinGen ClinVar ESP dbSNP gnomAD
COSM137199 rs1370024637 CA408208227	808	E>K	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA9760233 rs773635895	811	S>P		No	ClinGen ExAC gnomAD
rs761083194 CA9760234	814	I>M		No	ClinGen ExAC gnomAD
CA408208274 rs1262715289	815	R>*		No	ClinGen gnomAD
rs779947339 CA9760235	815	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9760236 rs753491751	816	Y>C		No	ClinGen ExAC gnomAD
CA408208288 rs1249842080	817	V>A		No	ClinGen TOPMed
CA9760238 rs764670797	819	L>V		No	ClinGen ExAC gnomAD
CA408208303 rs1176867883	820	M>V		No	ClinGen TOPMed
CA408208311 rs1175472849	821	E>K		No	ClinGen gnomAD
rs1373477917 CA408208341	825	K>E		No	ClinGen gnomAD
COSM3701659 rs777743058 CA408208419 COSM1632411 COSM1632412	836	E>A	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1267640483 CA408208421	836	E>D		No	ClinGen TOPMed
CA9760241 rs777743058	836	E>G		No	ClinGen ExAC TOPMed gnomAD
rs144264179 CA9760242	838	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1246108674 CA408208437	839	K>E		No	ClinGen TOPMed
CA311265527 rs988306249	839	K>T		No	ClinGen Ensembl
CA408206811 rs1373590652	843	D>N		No	ClinGen TOPMed
CA9760307 rs775843904	843	D>V		No	ClinGen ExAC TOPMed gnomAD
rs749715935 CA9760308	845	G>E		No	ClinGen ExAC TOPMed gnomAD
CA408206868 rs1436678737	846	E>*		No	ClinGen gnomAD
rs368627128 CA311257616	851	A>P		No	ClinGen Ensembl
rs1326445069 CA408206966	851	A>V		No	ClinGen TOPMed
rs767161782 CA9760311	853	S>N		No	ClinGen ExAC gnomAD
rs753642857 CA408206998	853	S>R		No	ClinGen ExAC TOPMed gnomAD
VAR_050541 rs2076413	854	E>K		No	UniProt dbSNP
rs1227346164 CA408207006	854	E>K		No	ClinGen gnomAD
CA408207039 rs201764744	855	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9760313 rs201764744	855	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9760314 rs753563126	857	T>A		No	ClinGen ExAC TOPMed gnomAD
CA9760316 rs184436336	857	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1210889097 CA408207127	861	E>G		No	ClinGen TOPMed
CA9760318 rs148288081	863	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA408207159 rs751858663	863	G>R		No	ClinGen ExAC gnomAD
rs751858663 CA9760317	863	G>W		No	ClinGen ExAC gnomAD
rs781252045 CA9760319	864	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1240558096 CA408207187	865	N>H		No	ClinGen TOPMed
CA9760320 rs746314670	867	T>I		No	ClinGen ExAC TOPMed gnomAD
rs756597309 CA9760321	868	T>A		No	ClinGen ExAC gnomAD
CA408207253 rs1456019944	868	T>I		No	ClinGen gnomAD
rs780601786 CA9760322	869	T>I		No	ClinGen ExAC
CA408207259 rs1600302121	869	T>P		No	ClinGen Ensembl
CA408207280 rs1171306759	870	L>P		No	ClinGen gnomAD
CA9760324 rs769110563	872	P>S		No	ClinGen ExAC gnomAD
rs773829881 CA9760325	873	K>R		No	ClinGen ExAC gnomAD
rs1386644525 CA408207329	875	P>L		No	ClinGen gnomAD
CA408207327 rs1568586909 RCV000716738	875	P>S		No	ClinGen ClinVar Ensembl dbSNP
rs1231656132 CA408207341	876	S>F		No	ClinGen TOPMed
CA408207371 rs1303966814	878	A>V		No	ClinGen gnomAD
CA408207403 rs1231040361	881	S>N		No	ClinGen gnomAD
rs947893015 CA311257704	883	P>Q		No	ClinGen TOPMed
rs772865502 CA9760328	884	A>V		No	ClinGen ExAC gnomAD
rs1456208837 CA408207946	888	V>I		No	ClinGen gnomAD
CA408207971 rs1162491095	891	P>L		No	ClinGen gnomAD
CA311259458 rs993127393	892	A>S		No	ClinGen Ensembl
CA408207990 rs1568588270	894	T>I		No	ClinGen Ensembl
CA408207992 rs1306086581	895	E>Q		No	ClinGen gnomAD
rs1349361425 CA408208015	898	I>F		No	ClinGen gnomAD
rs1349361425 CA408208014	898	I>V		No	ClinGen gnomAD
CA9760352 rs759522164	899	Q>P		No	ClinGen ExAC gnomAD
CA408208045 rs1319493751	902	L>F		No	ClinGen gnomAD
CA9760353 rs769415808	902	L>S		No	ClinGen ExAC gnomAD
CA9760354 rs775341189	903	T>I		No	ClinGen ExAC gnomAD
rs147055196 CA311262819	910	I>V		No	ClinGen ESP
CA408208516 COSM578662 COSM578661 RCV000523843 rs1364886743	911	E>K	lung [Cosmic]	No	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA408208546 rs1178337934	915	Q>*		No	ClinGen TOPMed
rs1232538285 CA408208564	917	K>T		No	ClinGen gnomAD
CA9760380 rs759604666 COSM1534081 COSM1534080	918	S>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA408208604 rs1172793093	923	Q>*		No	ClinGen gnomAD
CA9760382 rs753306390	923	Q>L		No	ClinGen ExAC
CA408208622 rs1419112033	925	K>R		No	ClinGen TOPMed
CA311262889 rs138373296	926	H>Q		No	ClinGen ESP
rs1247236855 CA408208644	928	K>R		No	ClinGen gnomAD
rs1982256238 RCV001172139	930	M>I		No	ClinVar dbSNP
rs1192881615 CA408208657	930	M>L		No	ClinGen gnomAD
rs147191017 CA311262916	933	L>P		No	ClinGen ESP TOPMed
rs143664316 CA9760384	933	L>V		No	ClinGen ESP ExAC gnomAD
CA311262942 rs1021896375	935	K>R		No	ClinGen Ensembl
CA408208696 rs1159266013	936	R>G		No	ClinGen gnomAD
rs113429373 CA311262945	937	H>R		No	ClinGen Ensembl
rs1264399608 CA408208705	937	H>Y		No	ClinGen TOPMed
rs868656855 CA311262946	938	H>N		No	ClinGen Ensembl
CA9760386 rs756918444	939	K>R		No	ClinGen ExAC TOPMed gnomAD
CA408208720 rs756918444	939	K>T		No	ClinGen ExAC TOPMed gnomAD
CA9760388 rs745349550	943	D>E		No	ClinGen ExAC gnomAD
CA9760389 rs561685256	944	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA408208751 rs561685256	944	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs530799467 CA9760390	946	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA9760394 rs202226833	951	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9760393 rs774148980	951	K>T		No	ClinGen ExAC gnomAD
CA311262999 rs1018265609	952	Y>C		No	ClinGen Ensembl
rs1267698962 CA408208828	955	I>V		No	ClinGen gnomAD
rs776759371 CA9760396	960	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1253411202 CA408208899	965	A>T		No	ClinGen TOPMed gnomAD
CA311263009 rs868808242	965	A>V		No	ClinGen Ensembl
rs763567304 CA408208934	970	A>S		No	ClinGen ExAC TOPMed gnomAD
rs763567304 CA9760400	970	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9760401 rs764754750	972	K>M		No	ClinGen ExAC gnomAD
CA311263034 rs372269921	974	S>R		No	ClinGen ESP
CA9760403 rs757601519	977	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1376110259 CA408209006	978	S>L		No	ClinGen TOPMed gnomAD
CA408209008 rs1376110259	978	S>W		No	ClinGen TOPMed gnomAD
rs779771720 CA311269101	981	S>N		No	ClinGen Ensembl
rs1196221117 CA408209045	984	D>N		No	ClinGen TOPMed
rs1319477360 CA408209054	985	H>R		No	ClinGen TOPMed
rs957145678 CA311269105	985	H>Y		No	ClinGen Ensembl
CA408209061 rs1600316238	986	G>D		No	ClinGen Ensembl
CA9760429 rs778800055	987	S>L		No	ClinGen ExAC TOPMed gnomAD
rs989766792 CA311269110	989	T>A		No	ClinGen TOPMed gnomAD
CA311269127 rs953391299	990	I>M		No	ClinGen Ensembl
CA9760430 rs758174226	990	I>T		No	ClinGen ExAC gnomAD
CA408209100 rs1443621692	992	Q>H		No	ClinGen gnomAD
rs746878142 CA9760432	994	L>F		No	ClinGen ExAC TOPMed gnomAD
rs749355982 CA9760435	995	A>V		No	ClinGen ExAC gnomAD
CA9760437 rs142497580	996	A>D		No	ClinGen ESP ExAC gnomAD
rs768876570 CA9760436	996	A>T		No	ClinGen ExAC gnomAD
CA408209135 rs1416208046	999	A>T		No	ClinGen gnomAD
rs1369002675 CA408209162	1002	T>I		No	ClinGen gnomAD
CA408209158 rs1358746132	1002	T>P		No	ClinGen gnomAD
rs773439369 CA9760439	1003	Q>E		No	ClinGen ExAC gnomAD
rs1440414287 CA408209168	1003	Q>L		No	ClinGen gnomAD
CA9760441 rs765989029	1005	L>F		No	ClinGen ExAC gnomAD
rs1412024463 CA408209181	1005	L>S		No	ClinGen TOPMed
CA408209208 rs1227638264	1009	K>E		No	ClinGen gnomAD
CA9760443 rs758998289	1011	K>E		No	ClinGen ExAC gnomAD
CA9760445 rs752616464	1015	Q>P		No	ClinGen ExAC gnomAD
rs752616464 CA408209257	1015	Q>R		No	ClinGen ExAC gnomAD
CA408209275 rs1600316390	1018	N>S		No	ClinGen Ensembl
rs929861534 CA311269212	1019	L>I		No	ClinGen Ensembl
COSM3770895 CA9760446 rs758283980 COSM3770894	1020	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA408209302 rs777832870	1022	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1250342429 CA408209324	1025	Y>C		No	ClinGen gnomAD
rs751280185 CA9760448	1027	E>K		No	ClinGen ExAC gnomAD
CA408209345 rs1233073172	1028	K>E		No	ClinGen TOPMed
rs1188524170 CA408209355	1029	Y>C		No	ClinGen gnomAD
rs757167492 CA9760449	1030	Q>E		No	ClinGen ExAC gnomAD
CA408209400 rs1458003629	1035	I>M		No	ClinGen TOPMed gnomAD
CA408209398 rs1424545241	1035	I>T		No	ClinGen gnomAD
CA9760465 rs763915322	1039	I>L		No	ClinGen ExAC gnomAD
RCV000715936 CA9760466 RCV000224413 rs75820839 RCV000398322	1039	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757073734 CA9760467	1040	Q>E		No	ClinGen ExAC gnomAD
CA9760468 rs754052641	1043	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1266449223 CA408209471	1045	V>I		No	ClinGen gnomAD
rs778097231 CA311275974	1046	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1568599848 CA408209495	1048	E>D		No	ClinGen Ensembl
CA408209489 rs1483429572	1048	E>K		No	ClinGen gnomAD
rs1249702793 CA408209517	1051	N>S		No	ClinGen gnomAD
CA408209522 rs1472407802	1052	N>D		No	ClinGen gnomAD
rs1332276503 CA408209526	1052	N>S		No	ClinGen TOPMed gnomAD
CA9760473 rs747546812	1053	Q>E		No	ClinGen ExAC gnomAD
RCV000585189 CA408209536 rs1555790699	1054	L>I		No	ClinGen ClinVar Ensembl dbSNP
CA9760476 rs746291885	1058	K>N		No	ClinGen ExAC gnomAD
CA9760475 rs776994571	1058	K>R		No	ClinGen ExAC gnomAD
CA311275984 rs1043961648	1060	I>M		No	ClinGen TOPMed
CA311275979 rs917537716	1060	I>V		No	ClinGen Ensembl
rs1371029553 CA408209602	1063	K>T		No	ClinGen TOPMed gnomAD
rs1568599923 CA408209625	1064	E>D		No	ClinGen Ensembl
rs1389039697 CA408209636	1066	K>E		No	ClinGen gnomAD
rs1466071412 CA408209643	1067	E>K		No	ClinGen gnomAD
rs781692603 CA9760491	1073	D>N		No	ClinGen ExAC gnomAD
CA9760492 rs746208263	1077	Q>H		No	ClinGen ExAC gnomAD
CA408209730 rs1231287777	1078	E>*		No	ClinGen gnomAD
CA311276064 rs58386879	1078	E>D		No	ClinGen Ensembl
CA9760493 rs770215717	1078	E>G		No	ClinGen ExAC gnomAD
rs1303531069 CA408209743	1080	I>V		No	ClinGen TOPMed
CA408209785 rs1361542164	1086	K>E		No	ClinGen TOPMed
CA408209812 rs767989292	1089	S>N		No	ClinGen ExAC gnomAD
rs767989292 CA9760496	1089	S>T		No	ClinGen ExAC gnomAD
CA408209819 rs1203237372	1090	Q>R		No	ClinGen gnomAD
rs1555790711 CA408209824	1091	M>V		No	ClinGen Ensembl
rs1004921926 CA311276074	1092	E>K		No	ClinGen Ensembl
rs780476445 CA9760513	1094	E>G		No	ClinGen ExAC gnomAD
rs1325949995 CA408209889	1098	M>V		No	ClinGen TOPMed
CA408209900 rs1344946352	1099	I>S		No	ClinGen gnomAD
rs1458910451 CA408209905	1100	R>W		No	ClinGen gnomAD
rs376179077 CA311276471	1102	Y>H		No	ClinGen ESP TOPMed
rs747642151 CA9760517	1109	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs747642151 CA311276490	1109	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1226761559 CA408209988	1112	R>K		No	ClinGen gnomAD
rs777439082 CA9760537	1114	E>K		No	ClinGen ExAC gnomAD
rs148936543 CA9760539	1116	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA408210043 rs1483793394	1118	S>R		No	ClinGen gnomAD
CA9760541 rs769607763	1119	K>E		No	ClinGen ExAC gnomAD
rs1435334183 CA408210054	1120	R>Q		No	ClinGen TOPMed
CA9760545 rs773333771	1125	V>I		No	ClinGen ExAC TOPMed gnomAD
rs773333771 COSM1029333 COSM1029334 CA311276778	1125	V>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772446104 CA311276791	1126	E>G		No	ClinGen Ensembl
rs766890266 CA9760547	1129	K>E		No	ClinGen ExAC gnomAD
rs1983687298 RCV001255062	1130	E>D		No	ClinVar dbSNP
CA9760548 rs754326213	1130	E>G		No	ClinGen ExAC gnomAD
CA9760549 rs755357721	1132	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9760550 rs765705013	1132	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755357721 CA408210135	1132	R>S		No	ClinGen ExAC TOPMed gnomAD
CA408210144 rs1343812135	1133	Q>L		No	ClinGen TOPMed
CA408210148 rs1299681360	1134	Q>E		No	ClinGen gnomAD
CA408210184 rs1402964687	1139	K>E		No	ClinGen gnomAD
CA9760625 rs746089818	1144	V>E		No	ClinGen ExAC gnomAD
rs1366641897 CA408262836	1144	V>L		No	ClinGen gnomAD
CA408262849 rs1600112922	1145	E>D		No	ClinGen Ensembl
CA9760627 rs780264668	1147	E>*		No	ClinGen ExAC gnomAD
rs1321170792 CA408262932	1151	Q>H		No	ClinGen gnomAD
rs769012967 CA9760629	1154	F>S		No	ClinGen ExAC gnomAD
rs1268524181 CA408262986	1155	K>R		No	ClinGen gnomAD
CA9760634 rs772786871	1165	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9760633 rs772786871	1165	V>M		No	ClinGen ExAC TOPMed gnomAD
CA408263093 rs1600112954	1166	Q>R		No	ClinGen Ensembl
CA408263318 rs1447682419	1168	A>D		No	ClinGen TOPMed
CA9760635 rs766079031	1169	M>V		No	ClinGen ExAC TOPMed gnomAD
CA311686070 rs145966488	1171	G>E		No	ClinGen ESP TOPMed gnomAD
rs776000253 CA9760636	1172	K>M		No	ClinGen ExAC gnomAD
CA9760638 rs765066861	1174	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1455824326 CA408263424	1175	E>D		No	ClinGen gnomAD
rs1228204388 CA408263453	1177	S>N		No	ClinGen TOPMed
rs1387366758 CA408263484	1179	H>R		No	ClinGen gnomAD
CA408263494 rs1300855863	1180	G>R		No	ClinGen gnomAD
rs1300855863 CA408263492	1180	G>S		No	ClinGen gnomAD
rs751454795 CA9760642	1180	G>V		No	ClinGen ExAC gnomAD
CA311686072 rs1028186212	1182	A>V		No	ClinGen TOPMed
CA208337 rs28390202	1184	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1167717692 CA408263576	1187	S>A		No	ClinGen TOPMed
rs1318457704 CA408263582	1187	S>F		No	ClinGen gnomAD
CA408263574 rs1167717692	1187	S>P		No	ClinGen TOPMed
CA311686074 rs1018944049	1189	D>E		No	ClinGen TOPMed gnomAD
rs755106892 CA9760645	1189	D>N		No	ClinGen ExAC gnomAD
rs200781362 CA9760647	1190	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779246597 CA9760646	1190	P>T		No	ClinGen ExAC gnomAD
CA9760648 rs772366922	1191	G>A		No	ClinGen ExAC TOPMed gnomAD
CA408263624 rs1479933564	1192	K>R		No	ClinGen gnomAD
rs747440380 CA9760650	1194	N>S		No	ClinGen ExAC gnomAD
RCV000712707 RCV000720771 RCV000345142 CA9760651 rs186429469	1195	H>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA408263652 rs1475747154	1196	K>R		No	ClinGen TOPMed
CA9760655 rs199568969	1197	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762968936 CA9760657	1198	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1308827255 CA408263675	1200	S>N		No	ClinGen gnomAD
rs1306014117 CA408263709	1205	G>E		No	ClinGen gnomAD
rs766462366 CA9760661	1206	D>G		No	ClinGen ExAC gnomAD
rs761748712 CA9760660	1206	D>N		No	ClinGen ExAC gnomAD
CA9760664 rs779064619	1209	G>E		No	ClinGen ExAC gnomAD
CA408263731 rs1234197093	1209	G>R		No	ClinGen gnomAD
rs752779710 CA9760665	1210	K>E		No	ClinGen ExAC gnomAD
rs758902144 CA9760666	1210	K>T		No	ClinGen ExAC gnomAD
CA9760667 rs547899069	1211	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs965818965 CA311686075	1211	E>D		No	ClinGen Ensembl
rs202009902 CA10606021 RCV000311698	1212	F>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs202009902 CA9760668	1212	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408263756 rs1383505846	1213	D>G		No	ClinGen gnomAD
rs926824810 CA311686076	1214	T>S		No	ClinGen TOPMed

1 associated diseases with Q9NQ66

[MIM: 613722]: Developmental and epileptic encephalopathy 12 (DEE12)

A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269|PubMed:20833646}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269|PubMed:20833646}. Note=The disease is caused by variants affecting the gene represented in this entry.

8 regional properties for Q9NQ66

Type	Name	Position	InterPro Accession
domain	C2 domain	656 - 786	IPR000008
domain	Phosphatidylinositol-specific phospholipase C, X domain	316 - 468	IPR000909
domain	Phospholipase C, phosphatidylinositol-specific, Y domain	540 - 656	IPR001711
conserved_site	Phospholipase C-beta, conserved site	905 - 942	IPR009535
domain	Phospholipase C-beta, C-terminal domain	1004 - 1172	IPR014815
domain	Phosphoinositide-specific phospholipase C, EF-hand-like domain	216 - 307	IPR015359
domain	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1, EF hand motif	153 - 303	IPR028400
domain	PLC-beta, PH domain	18 - 148	IPR037862

Functions

		Description
EC Number	3.1.4.11	Phosphoric diester hydrolases
Subcellular Localization	Nucleus membrane Cytoplasm	Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes
PANTHER Family	PTHR10336	PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE C FAMILY PROTEIN
PANTHER Subfamily	PTHR10336:SF12	1-PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE PHOSPHODIESTERASE BETA-1
PANTHER Protein Class	phospholipase
PANTHER Pathway Category	CCKR signaling map PLC_beta Inflammation mediated by chemokine and cytokine signaling pathway PLCbetagamma Wnt signaling pathway Phospholipase C Thyrotropin-releasing hormone receptor signaling pathway PLC Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway Phospholipase C-beta 2-arachidonoylglycerol biosynthesis PLC Gonadotropin-releasing hormone receptor pathway PLCbeta Endogenous cannabinoid signaling PLC Endothelin signaling pathway PLCbeta Alpha adrenergic receptor signaling pathway PLC Oxytocin receptor mediated signaling pathway PLC beta Angiotensin II-stimulated signaling through G proteins and beta-arrestin PLC 5HT2 type receptor mediated signaling pathway PLC Histamine H1 receptor mediated signaling pathway PLC

11 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
GABA-ergic synapse	A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
postsynapse	The part of a synapse that is part of the post-synaptic cell.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

9 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
identical protein binding	Binding to an identical protein or proteins.
lamin binding	Binding to lamin; any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope.
phosphatidylinositol phospholipase C activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+).
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
phospholipase C activity	Catalysis of the reaction: a phospholipid + H2O = 1,2-diacylglycerol + a phosphatidate.

38 GO annotations of biological process

Name	Definition
activation of meiosis involved in egg activation	Any process that starts the inactive process of meiosis in an egg after the egg has been fertilized or physiologically activated. Eggs generally arrest in meiosis and complete the process after activation.
cellular response to fluoride	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluoride stimulus.
cellular response to glyceraldehyde	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glyceraldehyde stimulus.
cellular response to ionomycin	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ionomycin stimulus.
cellular response to vasopressin	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vasopressin stimulus.
cerebral cortex development	The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon.
fat cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat.
G protein-coupled acetylcholine receptor signaling pathway	A G protein-coupled receptor signaling pathway initiated by a ligand binding to an acetylcholine receptor on the surface of a target cell, and ends with regulation of a downstream cellular process, e.g. transcription.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
G2/M transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex.
glutamate receptor signaling pathway	The series of molecular signals initiated by the binding of glutamate to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
inositol trisphosphate metabolic process	The chemical reactions and pathways involving myo-inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with three phosphate groups attached.
insulin-like growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to an insulin-like growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
interleukin-1-mediated signaling pathway	The series of molecular signals initiated by interleukin-1 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
interleukin-12-mediated signaling pathway	The series of molecular signals initiated by interleukin-12 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
interleukin-15-mediated signaling pathway	The series of molecular signals initiated by interleukin-15 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
learning	Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience.
memory	The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
negative regulation of monocyte extravasation	Any process that stops, prevents or reduces the frequency, rate or extent of monocyte extravasation.
negative regulation of transcription, DNA-templated	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
phosphatidylinositol catabolic process	The chemical reactions and pathways resulting in the breakdown of phosphatidylinositol, any glycophospholipid with its sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol metabolic process	The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol-mediated signaling	The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
positive regulation of acrosome reaction	Any process that activates or increases the frequency, rate or extent of the acrosome reaction.
positive regulation of CD24 production	Any process that activates or increases the frequency, rate or extent of CD24 biosynthetic process.
positive regulation of developmental growth	Any process that activates, maintains or increases the rate of developmental growth.
positive regulation of embryonic development	Any process that activates or increases the frequency, rate or extent of embryonic development.
positive regulation of G1/S transition of mitotic cell cycle	Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
positive regulation of interleukin-12 production	Any process that activates or increases the frequency, rate, or extent of interleukin-12 production.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of myoblast differentiation	Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
postsynaptic modulation of chemical synaptic transmission	Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission.
regulation of establishment of endothelial barrier	Any process that modulates the frequency, rate or extent of establishment of endothelial barrier.
regulation of fertilization	Any process that modulates the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy).
regulation of G protein-coupled receptor signaling pathway	Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway.
regulation of retrograde trans-synaptic signaling by endocanabinoid	Any process that modulates the frequency, rate or extent of retrograde trans-synaptic signaling by an endocannabinoid.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

27 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32383	PLC1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P10894	PLCB1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1	Bos taurus (Bovine)	SS
Q15111	PLCL1	Inactive phospholipase C-like protein 1	Homo sapiens (Human)	PR
Q9UPR0	PLCL2	Inactive phospholipase C-like protein 2	Homo sapiens (Human)	PR
Q86YW0	PLCZ1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1	Homo sapiens (Human)	PR
Q8N3E9	PLCD3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3	Homo sapiens (Human)	SS
Q9BRC7	PLCD4	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4	Homo sapiens (Human)	SS
P16885	PLCG2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2	Homo sapiens (Human)	SS
P19174	PLCG1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1	Homo sapiens (Human)	EV
Q00722	PLCB2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2	Homo sapiens (Human)	EV
Q01970	PLCB3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3	Homo sapiens (Human)	EV
Q9P212	PLCE1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	Homo sapiens (Human)	SS
P51178	PLCD1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1	Homo sapiens (Human)	EV
Q15147	PLCB4	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4	Homo sapiens (Human)	PR
P51432	Plcb3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3	Mus musculus (Mouse)	SS
A3KGF7	Plcb2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2	Mus musculus (Mouse)	PR
Q9Z1B3	Plcb1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1	Mus musculus (Mouse)	SS
Q99JE6	Plcb3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3	Rattus norvegicus (Rat)	SS
P10687	Plcb1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1	Rattus norvegicus (Rat)	SS
G5EBH0	egl-8	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta egl-8	Caenorhabditis elegans	SS
Q8GV43	PLC6	Phosphoinositide phospholipase C 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q944C2	PLC5	Phosphoinositide phospholipase C 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6NMA7	PLC9	Phosphoinositide phospholipase C 9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9STZ3	PLC8	Phosphoinositide phospholipase C 8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q56W08	PLC3	Phosphoinositide phospholipase C 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q39032	PLC1	Phosphoinositide phospholipase C 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q944C1	PLC4	Phosphoinositide phospholipase C 4	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAGAQPGVHA	LQLKPVCVSD	SLKKGTKFVK	WDDDSTIVTP	IILRTDPQGF	FFYWTDQNKE
70	80	90	100	110	120
TELLDLSLVK	DARCGRHAKA	PKDPKLRELL	DVGNIGRLEQ	RMITVVYGPD	LVNISHLNLV
130	140	150	160	170	180
AFQEEVAKEW	TNEVFSLATN	LLAQNMSRDA	FLEKAYTKLK	LQVTPEGRIP	LKNIYRLFSA
190	200	210	220	230	240
DRKRVETALE	ACSLPSSRND	SIPQEDFTPE	VYRVFLNNLC	PRPEIDNIFS	EFGAKSKPYL
250	260	270	280	290	300
TVDQMMDFIN	LKQRDPRLNE	ILYPPLKQEQ	VQVLIEKYEP	NNSLARKGQI	SVDGFMRYLS
310	320	330	340	350	360
GEENGVVSPE	KLDLNEDMSQ	PLSHYFINSS	HNTYLTAGQL	AGNSSVEMYR	QVLLSGCRCV
370	380	390	400	410	420
ELDCWKGRTA	EEEPVITHGF	TMTTEISFKE	VIEAIAECAF	KTSPFPILLS	FENHVDSPKQ
430	440	450	460	470	480
QAKMAEYCRL	IFGDALLMEP	LEKYPLESGV	PLPSPMDLMY	KILVKNKKKS	HKSSEGSGKK
490	500	510	520	530	540
KLSEQASNTY	SDSSSMFEPS	SPGAGEADTE	SDDDDDDDDC	KKSSMDEGTA	GSEAMATEEM
550	560	570	580	590	600
SNLVNYIQPV	KFESFEISKK	RNKSFEMSSF	VETKGLEQLT	KSPVEFVEYN	KMQLSRIYPK
610	620	630	640	650	660
GTRVDSSNYM	PQLFWNAGCQ	MVALNFQTMD	LAMQINMGMY	EYNGKSGYRL	KPEFMRRPDK
670	680	690	700	710	720
HFDPFTEGIV	DGIVANTLSV	KIISGQFLSD	KKVGTYVEVD	MFGLPVDTRR	KAFKTKTSQG
730	740	750	760	770	780
NAVNPVWEEE	PIVFKKVVLP	TLACLRIAVY	EEGGKFIGHR	ILPVQAIRPG	YHYICLRNER
790	800	810	820	830	840
NQPLTLPAVF	VYIEVKDYVP	DTYADVIEAL	SNPIRYVNLM	EQRAKQLAAL	TLEDEEEVKK
850	860	870	880	890	900
EADPGETPSE	APSEARTTPA	ENGVNHTTTL	TPKPPSQALH	SQPAPGSVKA	PAKTEDLIQS
910	920	930	940	950	960
VLTEVEAQTI	EELKQQKSFV	KLQKKHYKEM	KDLVKRHHKK	TTDLIKEHTT	KYNEIQNDYL
970	980	990	1000	1010	1020
RRRAALEKSA	KKDSKKKSEP	SSPDHGSSTI	EQDLAALDAE	MTQKLIDLKD	KQQQQLLNLR
1030	1040	1050	1060	1070	1080
QEQYYSEKYQ	KREHIKLLIQ	KLTDVAEECQ	NNQLKKLKEI	CEKEKKELKK	KMDKKRQEKI
1090	1100	1110	1120	1130	1140
TEAKSKDKSQ	MEEEKTEMIR	SYIQEVVQYI	KRLEEAQSKR	QEKLVEKHKE	IRQQILDEKP
1150	1160	1170	1180	1190	1200
KLQVELEQEY	QDKFKRLPLE	ILEFVQEAMK	GKISEDSNHG	SAPLSLSSDP	GKVNHKTPSS
1210
EELGGDIPGK	EFDTPL