AiPD: Autoinhibited Protein Database

Q96IW2

Gene name	SHD
Protein name	SH2 domain-containing adapter protein D
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56961
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

9-88 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

9-88 (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 Q96IW2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96IW2-F1	Predicted				AlphaFoldDB

362 variants for Q96IW2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs766092262 CA9093950	6	R>Q		No	ClinGen ExAC
rs777019756 CA9093949	6	R>W		No	ClinGen ExAC gnomAD
rs751510937 CA9093951	7	D>E		No	ClinGen ExAC gnomAD
CA9093952 rs759451216	8	Y>D		No	ClinGen ExAC gnomAD
CA403404282 rs1342820942	9	L>P		No	ClinGen gnomAD
rs1400188194 CA403404294	10	S>I		No	ClinGen gnomAD
CA403404343 rs1229545162 COSM178900	14	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9093954 rs752161236	14	R>W		No	ClinGen ExAC gnomAD
rs550195237 CA9093955	15	R>S		No	ClinGen 1000Genomes
rs370148846 CA304471044	16	P>T		No	ClinGen ESP gnomAD
rs1321023348 CA403404373	17	P>H		No	ClinGen gnomAD
CA9093958 rs755642309	18	P>R		No	ClinGen ExAC gnomAD
CA9093960 rs753433668	20	P>L		No	ClinGen ExAC gnomAD
CA304471059 rs1042389308	22	T>A		No	ClinGen TOPMed gnomAD
CA9093963 rs746362933	22	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1414688971 CA403404450	23	P>L		No	ClinGen TOPMed gnomAD
rs1414688971 CA403404446	23	P>Q		No	ClinGen TOPMed gnomAD
CA304471074 rs934870433	24	D>H		No	ClinGen Ensembl
rs768870794 CA9093967	27	E>D		No	ClinGen ExAC gnomAD
rs747037325 CA9093966	27	E>Q		No	ClinGen ExAC gnomAD
rs1223449759 CA403404526	28	S>N		No	ClinGen gnomAD
rs1339698762 CA403404550	29	D>G		No	ClinGen TOPMed
CA403404575 rs1317119088	31	L>M		No	ClinGen gnomAD
rs776846661 CA9093968	32	R>K		No	ClinGen ExAC gnomAD
rs1307900028 CA403404602	33	A>P		No	ClinGen TOPMed gnomAD
CA403404600 rs1307900028	33	A>T		No	ClinGen TOPMed gnomAD
rs377068329 CA9093969	33	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	35	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599510621 CA403404635	35	R>P		No	ClinGen Ensembl
rs1419195900 CA403404641	36	A>S		No	ClinGen TOPMed
rs770749261 CA9093972	36	A>V		No	ClinGen ExAC gnomAD
rs1221758593 CA403404654	37	Q>P		No	ClinGen TOPMed gnomAD
rs767390364 CA9093975	38	K>N		No	ClinGen ExAC gnomAD
TCGA novel	40	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403404712 rs1472009913	40	L>R		No	ClinGen TOPMed
rs1054466379 CA304471108	41	D>V		No	ClinGen TOPMed
CA9093978 rs202201901	44	D>E		No	ClinGen ExAC TOPMed gnomAD
CA403404815 rs1212563574	46	Y>*		No	ClinGen TOPMed gnomAD
rs753515858 CA9093979	46	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9093980 rs756907256	47	E>K		No	ClinGen ExAC gnomAD
CA9093983 rs758857619	50	E>K		No	ClinGen ExAC gnomAD
rs780651125 CA9093984	52	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9093985 rs375627519	52	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9093986 rs375627519	52	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA403404918 rs375627519	52	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs769952736 CA9093989	53	L>F		No	ClinGen ExAC gnomAD
rs748382712 CA9093988	53	L>S		No	ClinGen ExAC TOPMed gnomAD
rs781191574 CA9093987	53	L>V		No	ClinGen ExAC gnomAD
CA403404942 rs1599510703	54	E>A		No	ClinGen Ensembl
rs1234939758 CA403404930	54	E>K		No	ClinGen TOPMed
rs773503290 CA9093990	55	P>L		No	ClinGen ExAC TOPMed gnomAD
CA403404970 rs1277527086	56	D>E		No	ClinGen TOPMed gnomAD
CA403404963 rs1238302121	56	D>Y		No	ClinGen gnomAD
CA9093991 rs745601729	58	A>E		No	ClinGen ExAC gnomAD
CA403405001 rs1221106135	59	G>S		No	ClinGen gnomAD
TCGA novel	61	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304471174 rs906360535	62	D>E		No	ClinGen TOPMed gnomAD
CA403405044 rs1345928923	62	D>N		No	ClinGen TOPMed
CA9093992 rs771855749	64	K>Q		No	ClinGen ExAC gnomAD
rs1460879221 CA403405109	65	N>K		No	ClinGen gnomAD
rs1002415225 CA304471185	66	P>L		No	ClinGen TOPMed gnomAD
rs1415581514 CA403405152	68	D>E		No	ClinGen gnomAD
CA9093993 rs535190570	69	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535190570 CA403405161	69	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1458579453 CA403405184	71	Y>H		No	ClinGen gnomAD
CA403405209 rs1181754360	72	G>D		No	ClinGen gnomAD
CA9093994 rs553909831	73	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403405256 rs1172731771	75	K>N		No	ClinGen gnomAD
rs1599510752 CA403405266	76	H>P		No	ClinGen Ensembl
rs764699661 CA304471215	77	R>Q		No	ClinGen Ensembl
rs776043166 CA9093996	77	R>W		No	ClinGen ExAC gnomAD
CA403405318 rs1243404444	79	I>N		No	ClinGen TOPMed
CA403405335 rs1400443589	80	K>R		No	ClinGen gnomAD
rs764749515 CA9093998	81	V>E		No	ClinGen ExAC gnomAD
rs1326796849 CA403405344	81	V>L		No	ClinGen gnomAD
rs1326796849 CA403405342	81	V>M		No	ClinGen gnomAD
rs1282479130 CA403405364	82	E>A		No	ClinGen gnomAD
CA403405369 rs1282479130	82	E>V		No	ClinGen gnomAD
CA9094000 rs750115227	83	A>P		No	ClinGen ExAC TOPMed gnomAD
rs750115227 CA9093999	83	A>S		No	ClinGen ExAC TOPMed gnomAD
CA304471230 rs372188646	85	D>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs556155143 CA9094003	85	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9094002 rs372188646	85	D>Y		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1249034099 CA403405435	86	M>I		No	ClinGen gnomAD
rs1195668833 CA403405431	86	M>T		No	ClinGen gnomAD
rs376864690 CA304471237	87	A>T		No	ClinGen ESP TOPMed gnomAD
rs781303806 CA9094004	87	A>V		No	ClinGen ExAC gnomAD
rs1257336686 CA403405482	89	A>V		No	ClinGen TOPMed
rs752681611 CA9094005	90	K>E		No	ClinGen ExAC gnomAD
rs765614937 CA304471250	91	A>T		No	ClinGen Ensembl
rs756228597 CA9094006	91	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1282690307 CA403405518	92	L>F		No	ClinGen TOPMed gnomAD
CA403405537 rs1346179062	93	L>P		No	ClinGen gnomAD
CA304471256 rs1019380749	95	G>D		No	ClinGen Ensembl
rs749575240 CA9094008	95	G>S		No	ClinGen ExAC gnomAD
rs1019380749 CA403405572	95	G>V		No	ClinGen Ensembl
rs965475259 CA304471258	97	G>R		No	ClinGen gnomAD
rs965475259 CA403405591	97	G>W		No	ClinGen gnomAD
TCGA novel	98	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1167641512 CA403406952	100	L>P		No	ClinGen TOPMed
rs975622259 CA304476874	101	E>Q		No	ClinGen gnomAD
rs115000912 CA9094025	103	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1189269667 CA403407009	104	T>A		No	ClinGen TOPMed
TCGA novel	105	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	105	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403407063 rs1261743617	107	L>V		No	ClinGen gnomAD
rs754036839 CA9094027	108	D>G		No	ClinGen ExAC TOPMed gnomAD
CA9094028 rs757509968	109	P>R		No	ClinGen ExAC gnomAD
rs1257594654 CA403407128	110	F>L		No	ClinGen gnomAD
CA9094029 rs779135567	110	F>S		No	ClinGen ExAC TOPMed gnomAD
CA403407153 rs1199664754	111	D>H		No	ClinGen TOPMed
TCGA novel	112	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403407186 rs1453455550	112	A>V		No	ClinGen TOPMed
CA9094030 rs746755924	115	H>P		No	ClinGen ExAC gnomAD
CA304476885 rs201114749	116	P>L		No	ClinGen Ensembl
rs114144360 CA304476887	117	A>T		No	ClinGen 1000Genomes
CA304476889 rs1044093898	118	P>H		No	ClinGen Ensembl
rs1441530543 CA403407303	118	P>T		No	ClinGen gnomAD
CA9094032 rs558716922	119	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	119	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748184338 CA9094033	120	D>V		No	ClinGen ExAC TOPMed gnomAD
CA403407347 rs1343178220	120	D>Y		No	ClinGen TOPMed
CA403407364 rs1169598445	121	D>N		No	ClinGen gnomAD
CA403407388 rs1287359902	122	G>R		No	ClinGen gnomAD
rs769174555 CA9094034	123	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA9094037 rs770670016	124	M>K		No	ClinGen ExAC gnomAD
rs772910989 CA9094036	124	M>L		No	ClinGen ExAC TOPMed gnomAD
rs770670016 CA403407456	124	M>T		No	ClinGen ExAC gnomAD
rs772910989 CA9094035	124	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9094038 rs774172119	125	E>K		No	ClinGen ExAC gnomAD
CA9094040 rs767988735	126	P>A		No	ClinGen ExAC gnomAD
CA403407504 rs767988735	126	P>S		No	ClinGen ExAC gnomAD
CA304476905 CA9094044 rs575572985	127	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9094042 rs761289833	127	Y>C		No	ClinGen ExAC gnomAD
rs753127352 CA9094041	127	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA304476908 rs753774509	128	D>N		No	ClinGen TOPMed gnomAD
rs1202465769 CA403407563	129	A>T		No	ClinGen TOPMed gnomAD
CA9094048 rs754726669	131	W>*		No	ClinGen ExAC gnomAD
CA9094047 rs750664324	131	W>R		No	ClinGen ExAC gnomAD
rs781099669 CA9094049	132	V>I		No	ClinGen ExAC gnomAD
CA403407670 rs1568368453	133	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA403407715 rs1470459784	135	E>K		No	ClinGen gnomAD
CA403407804 rs1460958864	136	L>P		No	ClinGen gnomAD
rs138118908 CA9094067	137	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs2287714 VAR_027043 CA9094069	138	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA403407866 rs1341763020	140	G>A		No	ClinGen gnomAD
rs1280989013 CA403407855	140	G>R		No	ClinGen gnomAD
rs138591689 CA9094071	141	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9094072 rs756812381	142	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA9094073 rs149578820	142	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA403407886 rs756812381	142	Q>K		No	ClinGen ExAC TOPMed gnomAD
COSM1636799 CA9094074 rs35619517	144	Y>C	bone [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA403407936 rs1490132828	145	D>N		No	ClinGen gnomAD
CA403407952 rs1221936595	146	T>N		No	ClinGen gnomAD
rs377427035 CA9094076	147	P>A		No	ClinGen ESP ExAC gnomAD
rs377427035 CA403407963	147	P>S		No	ClinGen ESP ExAC gnomAD
rs377427035 CA9094077	147	P>T		No	ClinGen ESP ExAC gnomAD
rs769011992 CA9094078	148	Y>F		No	ClinGen ExAC gnomAD
rs144296562 CA304476983	149	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	149	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9094080 rs762367085	151	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA9094081 rs765278791	151	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA403408070 rs1472596283	153	P>T		No	ClinGen TOPMed
CA9094084 rs766577593	157	D>E		No	ClinGen ExAC gnomAD
rs1240916316 CA403408130	157	D>H		No	ClinGen gnomAD
CA9094085 rs751746942	158	G>A		No	ClinGen ExAC gnomAD
TCGA novel	158	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764035671 CA9094087	159	P>H		No	ClinGen ExAC gnomAD
rs764035671 CA403408166	159	P>R		No	ClinGen ExAC gnomAD
CA403408161 rs760540049	159	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9094086 rs760540049	159	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1269049964 CA403408190	161	S>C		No	ClinGen TOPMed gnomAD
COSM439649 rs1269049964 CA403408192	161	S>F	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA403408268 rs372206663	166	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9094088 rs372206663 COSM1225635	166	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA403408262 rs1359297539	166	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs375648211 CA9094089	168	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs144605369 CA9094090	168	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201563894 CA9094091	169	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA304477004 rs1044255905	169	R>W		No	ClinGen TOPMed gnomAD
rs1305286718 CA403408388	173	E>V		No	ClinGen Ensembl
CA403408406 rs1241540381	174	D>G		No	ClinGen gnomAD
rs564747740 CA9094093	175	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA9094094 rs200550741	176	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs147468291 CA9094095	177	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9094096 rs147468291	177	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs764336527 CA304477019	178	A>S		No	ClinGen Ensembl
rs1444625385 CA403408478	179	D>A		No	ClinGen gnomAD
rs748624213 CA9094097	180	E>K		No	ClinGen ExAC gnomAD
CA403408577 rs1400889823	184	P>L		No	ClinGen gnomAD
rs1317230689 CA403408601	185	W>C		No	ClinGen gnomAD
rs1342873360 CA403408641	188	K>E		No	ClinGen gnomAD
rs773619090 CA9094099	188	K>T		No	ClinGen ExAC gnomAD
CA403408662 rs1381915585	190	D>E		No	ClinGen gnomAD
rs1336880874 CA403408655	190	D>N		No	ClinGen gnomAD
CA403408665 rs1243732390	191	H>Y		No	ClinGen gnomAD
TCGA novel	195	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1010231313 CA304477038	195	A>T		No	ClinGen TOPMed
CA304477041 rs949246812	195	A>V		No	ClinGen gnomAD
CA304477046 rs886373683	196	F>C		No	ClinGen Ensembl
rs762849843 CA9094126	198	V>A		No	ClinGen ExAC TOPMed gnomAD
CA403409094 rs762849843	198	V>G		No	ClinGen ExAC TOPMed gnomAD
rs765881464 CA403409096	199	Q>E		No	ClinGen ExAC gnomAD
rs765881464 CA9094127	199	Q>K		No	ClinGen ExAC gnomAD
CA9094128 rs751030106	199	Q>R		No	ClinGen ExAC gnomAD
CA403409165 rs1317828041	202	S>I		No	ClinGen TOPMed
CA9094132 rs752353566	203	P>S		No	ClinGen ExAC TOPMed gnomAD
rs201598841 CA9094133	204	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	205	W>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344893865 CA403409228	205	W>R		No	ClinGen gnomAD
CA9094135 rs114044357	206	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778045897 CA9094134	206	E>Q		No	ClinGen ExAC gnomAD
rs1340634321 CA403409287	207	R>G		No	ClinGen TOPMed gnomAD
CA9094138 rs144672396	207	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9094139 rs745885154	208	T>A		No	ClinGen ExAC TOPMed gnomAD
CA403409327 rs1484576080	208	T>I		No	ClinGen TOPMed
CA9094140 rs374912178	209	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372512116 CA9094142	210	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403409385 rs1289297084	211	S>*		No	ClinGen TOPMed
CA403409396 rs1373191050	212	A>T		No	ClinGen gnomAD
rs750291898 CA304477924	214	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA403409468 rs1245050139	215	L>F		No	ClinGen TOPMed
CA9094145 rs553757764	215	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9094146 rs766179975	217	R>G		No	ClinGen ExAC gnomAD
rs774288446 CA9094148	217	R>S		No	ClinGen ExAC
CA403409530 rs752320904	219	P>A		No	ClinGen ExAC gnomAD
rs752320904 CA9094151	219	P>T		No	ClinGen ExAC gnomAD
CA403409573 rs1385347775	221	R>K		No	ClinGen gnomAD
rs763836753 CA9094153	223	P>L		No	ClinGen ExAC gnomAD
CA403409616 rs1450241058	223	P>S		No	ClinGen gnomAD
CA403409630 rs1327123053	224	Q>*		No	ClinGen gnomAD
CA9094154 rs754099217	224	Q>R		No	ClinGen ExAC gnomAD
CA9094156 rs757653062	225	P>S		No	ClinGen ExAC TOPMed gnomAD
rs757653062 CA9094155	225	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	226	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9094158 rs149685593	228	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA304477967 rs889007963	229	V>M		No	ClinGen TOPMed
CA403409719 rs1291559108 COSM3742978	230	D>N	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1487287855 CA403409744	231	P>A		No	ClinGen TOPMed gnomAD
rs1206548804 CA403409758	231	P>L		No	ClinGen TOPMed gnomAD
CA9094160 rs780330509	232	A>D		No	ClinGen ExAC gnomAD
CA9094163 rs146688729	234	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs527426050 CA9094162	234	P>S		No	ClinGen ExAC TOPMed gnomAD
rs527426050 CA9094161	234	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9094165 rs770719505	235	L>M		No	ClinGen ExAC TOPMed gnomAD
rs774271821 CA9094166	236	E>D		No	ClinGen ExAC gnomAD
rs1228460148 CA403409870	237	K>E		No	ClinGen gnomAD
CA403409887 rs1456549251 CA403409888	237	K>N		No	ClinGen TOPMed gnomAD
rs1290862099 CA403409895	238	Q>E		No	ClinGen gnomAD
CA403409929 rs1381709270	239	P>L		No	ClinGen TOPMed gnomAD
CA9094192 rs776134838	240	W>C		No	ClinGen ExAC TOPMed gnomAD
CA304480098 rs187626282	240	W>S		No	ClinGen 1000Genomes
rs1472358867 CA403410982	242	H>L		No	ClinGen TOPMed gnomAD
CA403410980 rs1472358867	242	H>R		No	ClinGen TOPMed gnomAD
rs145237303 CA9094195	244	P>L		No	ClinGen ESP ExAC gnomAD
COSM1711622 CA403411012 rs1470351274	244	P>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	245	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403411037 rs766740559	247	R>K		No	ClinGen ExAC TOPMed gnomAD
CA9094197 rs766740559	247	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1013792602 CA9094199	248	A>E		No	ClinGen TOPMed
rs1013792602 COSM315155 CA9094198	248	A>V	lung Variant assessed as Somatic; 9.24e-05 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA9094203 rs997031004	250	A>G		No	ClinGen TOPMed
CA403411057 rs997031004	250	A>V		No	ClinGen TOPMed
CA304480132 rs750800381	251	E>D		No	ClinGen TOPMed
rs1396273527 CA403411071	252	S>R		No	ClinGen TOPMed gnomAD
CA403411075 rs1407546574	253	L>F		No	ClinGen gnomAD
rs758693498 CA304480136	253	L>P		No	ClinGen gnomAD
rs752115673 CA403411081	254	L>P		No	ClinGen ExAC TOPMed gnomAD
rs752115673 CA9094205	254	L>R		No	ClinGen ExAC TOPMed gnomAD
rs755011637 CA403411098	257	C>F		No	ClinGen ExAC TOPMed gnomAD
CA403411095 rs1464109707	257	C>R		No	ClinGen TOPMed
rs755011637 CA9094206	257	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1343043290 CA403411106	258	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9094207 rs781395625	261	S>N		No	ClinGen ExAC TOPMed gnomAD
rs752844948 CA9094209	263	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1203211635 CA403411143	264	V>L		No	ClinGen gnomAD
CA9094210 rs373681026	265	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA304480155 rs1017215139	265	R>W		No	ClinGen TOPMed gnomAD
rs1423208477 CA403411158	267	S>G		No	ClinGen gnomAD
CA403411161 rs1430775627	267	S>T		No	ClinGen gnomAD
rs771855892 CA9094212	268	E>D		No	ClinGen ExAC TOPMed
CA403411181 rs888930	270	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61739549 CA9094215	270	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1568370000 CA631549198	270	N>K		No	ClinGen Ensembl
CA9094214 rs888930 VAR_027044	270	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1384239492 CA403411184	271	P>T		No	ClinGen TOPMed
CA403411199 rs1404007161	273	D>H		No	ClinGen gnomAD
rs1568370016 CA403411219	275	S>F		No	ClinGen Ensembl
rs1293440855 CA403411225	276	L>F		No	ClinGen TOPMed
CA9094218 rs564897784	279	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs564897784 CA403411241	279	R>M		No	ClinGen 1000Genomes ExAC gnomAD
CA403411961 rs1599517943	280	S>N		No	ClinGen Ensembl
rs201098460 CA9094237	280	S>R		No	ClinGen 1000Genomes ExAC gnomAD
COSM4154233 rs1244055817 CA403412003	282	Q>R	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs752518589 CA9094239	284	F>S		No	ClinGen ExAC gnomAD
rs201387982 CA9094241	285	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs775978612 CA9094242	286	H>R		No	ClinGen ExAC TOPMed gnomAD
rs760735710 CA403412121	289	F>L		No	ClinGen ExAC TOPMed gnomAD
rs200558109 CA9094245	290	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200558109 CA9094244	290	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757538858 CA9094246	290	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9094249 rs751320829	291	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9094248 rs751320829	291	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs765408203 CA9094247	291	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9094251 rs748165250	292	T>N		No	ClinGen ExAC gnomAD
rs570121465 CA9094250	292	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA304481163 rs748165250	292	T>S		No	ClinGen ExAC gnomAD
rs201753889 CA9094253	293	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9094254 rs777477718	293	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777477718 CA304481173	293	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9094255 rs748921595	294	E>K		No	ClinGen ExAC gnomAD
rs1225744379 CA403412247	296	Q>*		No	ClinGen gnomAD
rs1208418832 CA403412276	297	V>G		No	ClinGen gnomAD
CA9094257 rs377383564	297	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9094259 rs368725050	300	G>D		No	ClinGen ExAC gnomAD
rs370394697 CA9094260	301	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9094261 rs569658586	302	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555739842 CA304481189	302	H>Y		No	ClinGen 1000Genomes gnomAD
CA403412393 rs1464875668	303	S>G		No	ClinGen TOPMed
rs768691055 CA403412407	303	S>R		No	ClinGen ExAC TOPMed gnomAD
rs373893063 CA403412416 CA9094263	304	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs761821848 CA9094265	307	P>H		No	ClinGen ExAC
CA304481201 rs761821848	307	P>L		No	ClinGen ExAC
rs1198232111 CA403412475	307	P>S		No	ClinGen TOPMed
CA9094267 rs750616574	309	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	310	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs535726961 CA9094269	311	E>K	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs555300757 CA403412572 COSM439669	313	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs555300757 CA9094270	313	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403412602 rs1284046303	314	L>P		No	ClinGen gnomAD
CA9094272 rs777892808	315	H>Y		No	ClinGen ExAC gnomAD
CA304481223 rs958212203	316	Y>*		No	ClinGen gnomAD
rs756722499 CA9094274	317	S>G		No	ClinGen ExAC TOPMed gnomAD
CA9094275 rs375173911	319	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745563145 CA9094276	319	R>H		No	ClinGen ExAC gnomAD
rs1568370558 CA403412703	321	L>V		No	ClinGen Ensembl
CA9094279 rs558235639	322	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9094280 rs769102068	322	P>L		No	ClinGen ExAC TOPMed gnomAD
rs558235639 CA403412731	322	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA403412757 rs1306024880	323	V>A		No	ClinGen gnomAD
rs761886725 CA9094282	323	V>L		No	ClinGen ExAC gnomAD
CA9094285 rs763136561	324	Q>*		No	ClinGen ExAC gnomAD
rs1324228027 CA403412793	325	G>R		No	ClinGen TOPMed gnomAD
CA403412791 rs1324228027	325	G>S		No	ClinGen TOPMed gnomAD
CA403412815 rs1330625737	326	A>D		No	ClinGen gnomAD
rs1330625737 CA403412819	326	A>G		No	ClinGen gnomAD
COSM1265533 rs150781210 CA9094288	327	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9094289 rs199704298	328	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403412867 rs1343586343	328	H>Y		No	ClinGen gnomAD
rs74542136 CA304481268	330	A>D		No	ClinGen TOPMed
rs74542136 CA403412897	330	A>V		No	ClinGen TOPMed
CA403412917 rs1361094622	332	L>R		No	ClinGen gnomAD
rs1265974955 CA403412932	333	Y>*		No	ClinGen gnomAD
CA9094291 rs745597869	334	P>S		No	ClinGen ExAC TOPMed gnomAD
CA403412935 rs745597869	334	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9094293 rs139133532	335	V>M		No	ClinGen ESP ExAC gnomAD
rs1382987788 CA403412955	336	V>I		No	ClinGen TOPMed gnomAD
rs758005259 CA9094295	337	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747317472 CA9094297	338	Q>*		No	ClinGen ExAC gnomAD
rs147445732 CA9094299	339	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147445732 CA304481295	339	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs759210641 CA9094300	341	P>D		No	ClinGen ExAC gnomAD

No associated diseases with Q96IW2

2 regional properties for Q96IW2

Type	Name	Position	InterPro Accession
domain	SH2 domain	238 - 335	IPR000980
domain	SHD, SH2 domain	238 - 335	IPR035046

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

1 GO annotations of molecular function

Name	Definition
phosphotyrosine residue binding	Binding to a phosphorylated tyrosine residue within a protein.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O88834	Shd	SH2 domain-containing adapter protein D	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAKWLRDYLS	FGGRRPPPQP	PTPDYTESDI	LRAYRAQKNL	DFEDPYEDAE	SRLEPDPAGP
70	80	90	100	110	120
GDSKNPGDAK	YGSPKHRLIK	VEAADMARAK	ALLGGPGEEL	EADTEYLDPF	DAQPHPAPPD
130	140	150	160	170	180
DGYMEPYDAQ	WVMSELPGRG	VQLYDTPYEE	QDPETADGPP	SGQKPRQSRM	PQEDERPADE
190	200	210	220	230	240
YDQPWEWKKD	HISRAFAVQF	DSPEWERTPG	SAKELRRPPP	RSPQPAERVD	PALPLEKQPW
250	260	270	280	290	300
FHGPLNRADA	ESLLSLCKEG	SYLVRLSETN	PQDCSLSLRS	SQGFLHLKFA	RTRENQVVLG
310	320	330
QHSGPFPSVP	ELVLHYSSRP	LPVQGAEHLA	LLYPVVTQTP