AiPD: Autoinhibited Protein Database

Q8WWW8

Gene name	GAB3
Protein name	GRB2-associated-binding protein 3
Names	GRB2-associated binder 3, Growth factor receptor bound protein 2-associated protein 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:139716
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

104-180 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

104-180 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q8WWW8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8WWW8-F1	Predicted				AlphaFoldDB

290 variants for Q8WWW8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA414888574 rs1557262597	3	A>V		No	ClinGen gnomAD
CA337301162 rs111265474	6	A>V		No	ClinGen Ensembl
CA414888552 rs1312988415	7	V>L		No	ClinGen TOPMed
CA414888531 rs1557262591	10	G>D		No	ClinGen gnomAD
CA414888504 rs1603428784	14	K>T		No	ClinGen Ensembl
CA414888497 rs1315803637	15	S>A		No	ClinGen TOPMed
rs1269914142 CA414888471	19	R>K		No	ClinGen TOPMed
rs1465261600 CA414888438	24	Y>H		No	ClinGen TOPMed
CA415314375 rs1557257656	27	R>C		No	ClinGen gnomAD
COSM70850 CA10566926 rs782361857	27	R>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA415314373 rs782361857	27	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	28	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557257646 CA415314285	34	R>Q		No	ClinGen gnomAD
CA10566924 rs367928240	34	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260532028 CA415314276	35	R>Q		No	ClinGen TOPMed
rs782399192 CA10566923	37	R>C		No	ClinGen ExAC gnomAD
rs782292835 CA10566922 COSM302276	37	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs182488593 CA10566921	38	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1367442444 CA415314247	38	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	39	S>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782464185 CA415314225	39	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10566919 rs781819120 COSM1683039	40	G>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200095289 CA10566917	43	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10566916 rs781888536	44	V>A		No	ClinGen ExAC TOPMed gnomAD
CA415314166 rs1557257627	44	V>I		No	ClinGen gnomAD
TCGA novel	47	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415314071 rs1384198918	50	N>K		No	ClinGen TOPMed gnomAD
rs995198642 CA337674743	50	N>T		No	ClinGen TOPMed gnomAD
COSM3939883 CA415313983 rs1557257611	58	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1557257607 CA415313976	59	V>A		No	ClinGen gnomAD
CA415313969 rs1557257605	60	I>T		No	ClinGen gnomAD
CA415313955 CA10566915 rs782813970	61	D>E		No	ClinGen ExAC TOPMed gnomAD
rs782055968 CA10566914	64	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782613826 CA10566913	72	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA415313819 rs1557257595	72	G>S		No	ClinGen gnomAD
CA337674738 rs898830733	73	P>S		No	ClinGen Ensembl
rs192809458 CA10566911	77	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA415313635 rs1603426404	83	N>K		No	ClinGen Ensembl
rs147290916 CA10566910 COSM1466886	85	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA10566908 rs145569530	87	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10566909 rs782388455	87	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA337674732 rs782297763	91	T>S		No	ClinGen gnomAD
CA337674731 rs371779500	93	R>H		No	ClinGen ESP gnomAD
TCGA novel	99	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	105	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557257563 CA415313219	106	Q>H		No	ClinGen gnomAD
rs782639374 CA10566906	107	V>L		No	ClinGen 1000Genomes ExAC gnomAD
COSM206746 CA10566904 rs781951134	113	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1557257551 CA415313049	114	Q>H		No	ClinGen gnomAD
CA415313057 rs1557257555	114	Q>R		No	ClinGen gnomAD
rs1557257550 CA415312980	117	N>K		No	ClinGen gnomAD
COSM4156761 rs1255053687 CA415312961	118	L>R	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
COSM1625720 rs1045313072 CA337674725	119	G>S	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA10566902 rs782241017	121	L>P		No	ClinGen ExAC TOPMed gnomAD
rs367756591 CA10566901	125	A>T		No	ClinGen ESP ExAC gnomAD
CA415312666 rs1557256876	127	S>C		No	ClinGen gnomAD
TCGA novel	127	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10566887 rs781981537	130	S>R		No	ClinGen ExAC gnomAD
rs782393555 CA10566886	131	L>F		No	ClinGen ExAC gnomAD
rs1231065424 CA415312532	133	Y>C		No	ClinGen TOPMed
CA10566885 rs782290572	134	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1569557819 CA415312506	135	P>S		No	ClinGen Ensembl
TCGA novel	143	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293533869 CA415312356	143	A>V		No	ClinGen TOPMed gnomAD
CA415312328 rs1557256831	146	L>F		No	ClinGen gnomAD
CA10566880 rs782510645	146	L>H		No	ClinGen ExAC gnomAD
rs782271160 CA10566879	147	L>P		No	ClinGen ExAC TOPMed gnomAD
rs782650243 CA337674496	148	T>I		No	ClinGen ExAC gnomAD
rs782650243 CA10566878	148	T>N		No	ClinGen ExAC gnomAD
rs374214887 CA10566875	149	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA415312304 rs374214887	149	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10566876 rs374214887	149	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782467513 CA10566874	151	A>V		No	ClinGen ExAC gnomAD
rs1557256794 CA415312270	152	A>V		No	ClinGen gnomAD
CA415312265 rs1188957558	153	S>I		No	ClinGen TOPMed gnomAD
TCGA novel	155	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	156	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415312199 rs1442552218	158	R>G		No	ClinGen TOPMed
rs1557256776 CA415312195	158	R>T		No	ClinGen gnomAD
CA10566872 rs781839941	165	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1161847994 CA415312089	165	A>S		No	ClinGen TOPMed gnomAD
CA415312088 rs781839941	165	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782034752 CA10566870	166	V>I		No	ClinGen ExAC gnomAD
rs782034752 CA10566869	166	V>L		No	ClinGen ExAC gnomAD
rs924359842 CA337674488	168	T>A		No	ClinGen TOPMed gnomAD
CA10566867 rs782069113	170	E>K		No	ClinGen ExAC TOPMed gnomAD
CA415311973 rs1557256746	173	S>R		No	ClinGen gnomAD
rs1557256742 CA415311954	174	E>K		No	ClinGen gnomAD
CA415311930 rs1298995677	175	S>L		No	ClinGen TOPMed
CA337674485 rs978223137	177	L>F		No	ClinGen Ensembl
CA10566866 rs781954873	187	S>P		No	ClinGen ExAC
rs1244266840 CA415311748	190	E>K		No	ClinGen TOPMed
rs149349463 CA10566863	192	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337674480 rs954851680	194	L>R		No	ClinGen Ensembl
CA10566862 rs782414343	197	T>I		No	ClinGen ExAC TOPMed gnomAD
CA10566861 rs782795377	198	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1201596684 CA415311610	201	T>A		No	ClinGen TOPMed
rs1557256579 CA415311602	202	R>G		No	ClinGen gnomAD
TCGA novel	202	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781808487 CA10566852	203	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1372002760 CA415311500	209	S>A		No	ClinGen TOPMed gnomAD
rs924308874 CA337674437	212	S>L		No	ClinGen Ensembl
rs782043716 CA10566846	214	E>K		No	ClinGen ExAC TOPMed gnomAD
CA415311424 rs1301865307	216	A>S		No	ClinGen TOPMed
CA10566844 rs782061356	218	F>L		No	ClinGen ExAC TOPMed gnomAD
CA10566843 rs781946608	219	D>E		No	ClinGen ExAC gnomAD
TCGA novel	220	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276583258 CA415311351	222	F>L		No	ClinGen TOPMed
rs782238316 CA10566841	223	V>I		No	ClinGen ExAC gnomAD
CA415311270 rs1557256511	224	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA415311255 rs1557256503	225	C>Y		No	ClinGen gnomAD
TCGA novel	226	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781922452 CA10566840	228	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1557256499 CA415311216	228	P>S		No	ClinGen gnomAD
rs782182298 CA10566838	230	P>S		No	ClinGen ExAC gnomAD
rs150585256 CA337674428	233	H>R		No	ClinGen ESP TOPMed
CA10566837 rs782586548	236	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10566836 VAR_038917 rs17281349	237	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	240	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268659550 CA415311027	241	G>R		No	ClinGen TOPMed
rs1557256452 CA415310972	244	A>V		No	ClinGen gnomAD
CA10566835 rs781842351	245	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA415310969 rs781842351	245	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs184479727 CA10566834	248	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782534409 CA10566833	249	S>F		No	ClinGen ExAC TOPMed gnomAD
rs138147469 CA10566831	250	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781803525 CA415310871	251	R>K		No	ClinGen ExAC gnomAD
CA10566829 rs781803525	251	R>M		No	ClinGen ExAC gnomAD
rs950709189 CA337674417	252	P>R		No	ClinGen Ensembl
rs1557256425 CA415310857	252	P>T		No	ClinGen gnomAD
rs782213061 CA337674415	254	A>D		No	ClinGen ExAC gnomAD
rs782213061 CA10566828	254	A>G		No	ClinGen ExAC gnomAD
TCGA novel	254	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293676847 CA415310331	257	I>M		No	ClinGen TOPMed
CA10566827 rs782091053	259	S>N		No	ClinGen ExAC TOPMed gnomAD
rs782143381 CA10566824	263	N>S		No	ClinGen ExAC TOPMed gnomAD
rs782123711 CA10566823	264	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1557256388 CA415310214	268	D>G		No	ClinGen gnomAD
rs782381782 CA337674407	269	H>Q		No	ClinGen Ensembl
CA337674409 rs61758970	269	H>R		No	ClinGen Ensembl
CA337674405 rs199536745	271	S>A		No	ClinGen gnomAD
rs782327751 CA10566822	274	P>L		No	ClinGen ExAC gnomAD
CA10566820 rs369854278	278	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	279	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207340199 CA415310065	282	S>Y		No	ClinGen TOPMed
rs1603426084 CA415309960	291	G>C		No	ClinGen Ensembl
rs141759330 CA10566819	292	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782263257 CA415309942	293	L>V		No	ClinGen ExAC gnomAD
CA337674398 rs893010871	298	K>E		No	ClinGen Ensembl
rs782680792 CA10566817	302	I>V		No	ClinGen ExAC gnomAD
rs782551918 CA10566816	304	S>P		No	ClinGen ExAC TOPMed gnomAD
CA415309815 rs1557256322	305	N>H		No	ClinGen TOPMed
CA415309811 rs1183408286	305	N>S		No	ClinGen TOPMed
rs782191474 CA10566815	307	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA415309787 rs1411176521	307	P>L		No	ClinGen TOPMed
rs782191474 CA415309792	307	P>S		No	ClinGen ExAC gnomAD
rs1557256305 CA415309783	308	P>S		No	ClinGen gnomAD
rs782579481 CA10566814	309	P>L		No	ClinGen ExAC gnomAD
rs1425248958 CA415309775	309	P>T		No	ClinGen TOPMed
rs782468082 CA10566813	310	R>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	311	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10566810 rs782525644	316	H>R		No	ClinGen ExAC gnomAD
CA415309680 rs1557256284	318	S>A		No	ClinGen gnomAD
rs781883731 CA10566809	318	S>C		No	ClinGen ExAC TOPMed gnomAD
rs781883731 CA415309675	318	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1557256268 CA415309673	319	E>K		No	ClinGen gnomAD
rs782818856 CA10566808	320	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1207750 CA10566806 rs781951466	321	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs138557356 CA10566805	321	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1557256248 CA415309625	325	W>*		No	ClinGen gnomAD
CA10566804 rs782120854	325	W>R		No	ClinGen ExAC gnomAD
CA415309610 rs1557256244	327	T>A		No	ClinGen gnomAD
CA10566803 rs782005885	328	H>P		No	ClinGen ExAC gnomAD
rs201291863 CA337674384	330	G>D		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	335	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782297104 CA10566801	336	C>Y		No	ClinGen ExAC gnomAD
CA10566800 rs781927204	340	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA415309486 rs1557256209	345	L>P		No	ClinGen gnomAD
rs1557256199 CA415309466	349	D>N		No	ClinGen gnomAD
rs782622959 CA10566797	350	N>S		No	ClinGen ExAC
CA415309433 rs1557256191	353	T>A		No	ClinGen gnomAD
rs1557256189 CA415309422	354	W>*		No	ClinGen gnomAD
CA10566786 rs781895883	357	D>N		No	ClinGen ExAC gnomAD
CA415308883 rs868995022	359	E>K		No	ClinGen Ensembl
TCGA novel	359	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782580659 CA10566785	363	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA415308762 COSM206740 rs1436457813	366	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA10566784 rs782054509	367	D>E		No	ClinGen ExAC gnomAD
rs143104779 CA337673058	368	K>R		No	ClinGen ESP
rs371718474 CA10566783	371	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	371	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782360417 CA10566782	372	L>F		No	ClinGen ExAC gnomAD
TCGA novel	374	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10566772 rs782516492	377	R>K		No	ClinGen ExAC gnomAD
rs782516492 CA415308525	377	R>T		No	ClinGen ExAC gnomAD
rs782639433 CA10566773	377	R>W		No	ClinGen ExAC gnomAD
rs1557251663 CA415308482	379	S>C		No	ClinGen gnomAD
CA10566771 rs193262930 COSM756778	380	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA337673013 rs149031152	380	P>S		No	ClinGen ESP gnomAD
CA415308453 rs1557251649	381	M>T		No	ClinGen gnomAD
CA10566770 rs782679235	388	S>R		No	ClinGen ExAC gnomAD
CA415308333 rs1242626854 COSM1715876	390	E>K	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1015923535 CA337673010	393	Y>N		No	ClinGen Ensembl
CA415308249 rs1557251627	394	V>G		No	ClinGen gnomAD
rs1557251623 CA415308230	396	M>V		No	ClinGen gnomAD
rs781797260 CA10566768	397	S>N		No	ClinGen ExAC gnomAD
rs782105225 CA10566766	399	Q>H		No	ClinGen ExAC gnomAD
rs1179878050 CA415308158	400	A>P		No	ClinGen TOPMed gnomAD
rs1179878050 CA415308155	400	A>S		No	ClinGen TOPMed gnomAD
CA415308147 rs868925892	401	G>S		No	ClinGen Ensembl
rs1255719178 CA415308129	402	A>P		No	ClinGen TOPMed
rs868965963 CA415308078	405	L>F		No	ClinGen Ensembl
CA10566764 rs782782979	406	G>E		No	ClinGen ExAC gnomAD
rs1188770040 CA415308029	408	H>Y		No	ClinGen TOPMed gnomAD
CA415308012 rs1569557386	409	C>R		No	ClinGen Ensembl
rs782037695 CA10566762	412	D>G		No	ClinGen ExAC gnomAD
rs1399023484 CA415307918	414	Y>N		No	ClinGen TOPMed
CA10566760 rs782068259	416	P>L		No	ClinGen ExAC gnomAD
CA337673005 rs1013532633	416	P>S		No	ClinGen TOPMed gnomAD
rs781969249 CA10566759	417	M>V		No	ClinGen ExAC TOPMed gnomAD
CA415307756 rs1465892931	424	S>R		No	ClinGen TOPMed
CA415307727 rs1557251522	425	P>L		No	ClinGen gnomAD
rs1357001283 CA415307650	430	P>S		No	ClinGen TOPMed gnomAD
CA415307635 rs1414958239	431	A>S		No	ClinGen TOPMed
CA415307593 rs1287163572	434	E>G		No	ClinGen TOPMed
CA10566757 rs782256604	435	P>R		No	ClinGen ExAC gnomAD
rs782654211 CA10566756	437	P>A		No	ClinGen ExAC gnomAD
TCGA novel	437	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	437	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370624476 CA415307343	445	Q>R		No	ClinGen TOPMed
rs782011355 CA10566754	446	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA10566753 rs782579004	448	S>A		No	ClinGen ExAC TOPMed gnomAD
rs782579004 CA415307284	448	S>T		No	ClinGen ExAC TOPMed gnomAD
CA10566738 rs782319133	449	R>Q		No	ClinGen ExAC gnomAD
CA10566737 rs782206189	450	P>L		No	ClinGen ExAC gnomAD
rs781973995 CA10566736	451	P>L		No	ClinGen ExAC
CA10566735 rs782381689	452	P>A		No	ClinGen ExAC TOPMed gnomAD
CA10566734 rs150302353	455	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782662315 CA10566733	456	R>K		No	ClinGen ExAC TOPMed gnomAD
rs61754574 CA337672821	457	N>S		No	ClinGen Ensembl
CA10566732 rs782568264	459	S>L		No	ClinGen ExAC gnomAD
rs781853785 CA10566728	462	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10566729 rs781853785	462	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10566730 rs782586886	462	R>W		No	ClinGen ExAC TOPMed gnomAD
CA415306764 rs1557250926	466	S>P		No	ClinGen gnomAD
CA415306668 rs1557250918	469	R>S		No	ClinGen gnomAD
CA10566726 rs782526090	471	R>C		No	ClinGen ExAC TOPMed gnomAD
CA415306617 rs1255210125	471	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1557250908 CA415306606	472	T>A		No	ClinGen gnomAD
CA10566725 rs200524211	473	V>A		No	ClinGen ExAC TOPMed gnomAD
CA10566724 rs199709642	474	P>A		No	ClinGen ExAC TOPMed gnomAD
CA415306555 rs1416921095	474	P>R		No	ClinGen TOPMed
CA10566723 rs782411901	475	C>R		No	ClinGen ExAC gnomAD
CA415306268 rs1265585491	477	R>*		No	ClinGen TOPMed
CA415306265 rs1488680307 COSM1490706	477	R>Q	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA415306205 rs1557250606	479	S>R		No	ClinGen gnomAD
CA10566711 rs267606400	480	F>L		No	ClinGen ExAC TOPMed gnomAD
CA415306191 rs267606400	480	F>V		No	ClinGen ExAC TOPMed gnomAD
CA415306162 rs1557250596	481	L>H		No	ClinGen gnomAD
rs1557250590 CA415306035	487	G>D		No	ClinGen gnomAD
CA415305903 rs1412287245	492	R>K		No	ClinGen TOPMed gnomAD
TCGA novel CA10566710 rs782678443	493	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA10566709 rs782445662	494	F>C		No	ClinGen ExAC gnomAD
rs1363651301 CA415305819	494	F>L		No	ClinGen TOPMed
rs1165935017 CA415305856	494	F>L		No	ClinGen TOPMed
COSM231502 CA10566707 rs782602979	499	S>F	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10566705 rs781866223 COSM1118126	503	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782788126 CA10566704	507	I>N		No	ClinGen ExAC gnomAD
rs150550316 CA10566702	508	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150550316 CA10566703	508	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10566692 rs192362004	513	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1569557119 CA415301533	514	T>A		No	ClinGen Ensembl
CA10566691 rs782218935	515	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	517	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000960996 CA10566689 rs148492317	519	S>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA415301289 rs1557246517	520	S>I		No	ClinGen gnomAD
TCGA novel	522	A>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781898962 CA10566688	524	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781808309 CA10566685	531	L>V		No	ClinGen ExAC
rs1307457986 CA415300295	543	P>A		No	ClinGen TOPMed
CA415300293 rs1307457986	543	P>S		No	ClinGen TOPMed
rs782097138 CA10566683	548	Q>*		No	ClinGen ExAC
CA10566667 rs782227100	555	E>K		No	ClinGen ExAC gnomAD
CA10566665 rs782544364	563	V>M		No	ClinGen ExAC gnomAD
rs145503993 CA10566663	565	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	567	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415299027 rs1172958327	574	T>I		No	ClinGen TOPMed
CA415298917 rs1389457812	578	W>R		No	ClinGen TOPMed
COSM1466882 rs1557246040 CA415298857	579	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs200068719 CA10566661	580	D>E		No	ClinGen 1000Genomes ExAC gnomAD

No associated diseases with Q8WWW8

1 regional properties for Q8WWW8

Type	Name	Position	InterPro Accession
domain	Pleckstrin homology domain	5 - 119	IPR001849

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

1 GO annotations of molecular function

Name	Definition
signaling adaptor activity	The binding activity of a molecule that brings together two or more molecules in a signaling pathway, permitting those molecules to function in a coordinated way. Adaptor molecules themselves do not have catalytic activity.

2 GO annotations of biological process

Name	Definition
macrophage differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage.
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.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MSAGDAVCTG	WLVKSPPERK	LQRYAWRKRW	FVLRRGRMSG	NPDVLEYYRN	KHSSKPIRVI
70	80	90	100	110	120
DLSECAVWKH	VGPSFVRKEF	QNNFVFIVKT	TSRTFYLVAK	TEQEMQVWVH	SISQVCNLGH
130	140	150	160	170	180
LEDGADSMES	LSYTPSSLQP	SSASSLLTAH	AASSSLPRDD	PNTNAVATEE	TRSESELLFL
190	200	210	220	230	240
PDYLVLSNCE	TGRLHHTSLP	TRCDSWSNSD	RSLEQASFDD	VFVDCLQPLP	SSHLVHPSCH
250	260	270	280	290	300
GSGAQEVPSS	RPQAALIWSR	EINGPPRDHL	SSSPLLESSL	SSTIQVDKNQ	GSLPCGAKEL
310	320	330	340	350	360
DIMSNTPPPR	PPKPSHLSER	RQEEWSTHSG	SKKPECTLVP	RRISLSGLDN	MRTWKADVEG
370	380	390	400	410	420
QSLRHRDKRL	SLNLPCRFSP	MYPTASASIE	DSYVPMSPQA	GASGLGPHCS	PDDYIPMNSG
430	440	450	460	470	480
SISSPLPELP	ANLEPPPVNR	DLKPQRKSRP	PPLDLRNLSI	IREHASLTRT	RTVPCSRTSF
490	500	510	520	530	540
LSPERNGINS	ARFFANPVSR	EDEESYIEME	EHRTASSLSS	GALTWTKKFS	LDYLALDFNS
550	560	570	580
ASPAPMQQKL	LLSEEQRVDY	VQVDEQKTQA	LQSTKQEWTD	ERQSKV