AiPD: Autoinhibited Protein Database

Q96KN1

Gene name	LRATD2
Protein name	Protein LRATD2
Names	Breast cancer membrane protein 101, LRAT domain-containing 2, Protein FAM84B, Protein NSE2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:157638
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-101 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-101 (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 Q96KN1

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96KN1-F1	Predicted				AlphaFoldDB

318 variants for Q96KN1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA372275854 rs1259148999	6	E>K		No	ClinGen TOPMed
rs561026358 CA4874889	11	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA372275810 rs763691132	12	S>I		No	ClinGen ExAC TOPMed gnomAD
CA4874888 rs763691132	12	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1270084567 CA372275809	12	S>R		No	ClinGen TOPMed
rs541233183 CA4874887	14	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4874886 rs753600092	14	K>N		No	ClinGen ExAC TOPMed
rs766160133 CA4874885	17	P>L		No	ClinGen ExAC gnomAD
CA372275778 rs1244336729	17	P>S		No	ClinGen TOPMed
rs1586533924 CA372275773	18	T>A		No	ClinGen Ensembl
CA372275770 rs1301062923	18	T>R		No	ClinGen gnomAD
rs1586533914 CA372275759	20	D>A		No	ClinGen Ensembl
rs1437016555 CA372275755	20	D>E		No	ClinGen TOPMed gnomAD
CA372275750 rs1365586396	21	P>L		No	ClinGen gnomAD
CA185636347 rs868551615	23	G>C		No	ClinGen Ensembl
CA4874884 rs370963078	24	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA372275728 rs1176856652	25	D>G		No	ClinGen gnomAD
CA372275731 rs1361012003	25	D>H		No	ClinGen gnomAD
TCGA novel	25	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372275727 rs1176856652	25	D>V		No	ClinGen gnomAD
rs767549939 CA4874882	26	R>P		No	ClinGen ExAC gnomAD
CA372275713 rs1170651025	27	D>E		No	ClinGen gnomAD
rs147489088 CA185636346	28	D>E		No	ClinGen ExAC TOPMed gnomAD
rs955501607 CA372275705 CA185636345	29	G>R		No	ClinGen TOPMed gnomAD
CA4874880 rs565418637	30	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs776888640 CA4874877	31	R>G		No	ClinGen ExAC gnomAD
CA372275694 rs776888640	31	R>S		No	ClinGen ExAC gnomAD
rs1238760856 CA372275688	32	I>F		No	ClinGen gnomAD
CA4874876 rs771215923	32	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4874875 rs545371372	33	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4874874 rs778305368	34	V>I		No	ClinGen ExAC gnomAD
rs1263749624 CA372275649	38	F>S		No	ClinGen gnomAD
rs748228339 CA4874872	39	S>F		No	ClinGen ExAC gnomAD
CA4874871 rs373050263	40	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs755189348 CA4874870	41	D>N		No	ClinGen ExAC gnomAD
CA185636344 rs960494279	42	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	43	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372275605 rs1310119320	44	D>E		No	ClinGen gnomAD
rs779727941 CA4874868	44	D>N		No	ClinGen ExAC gnomAD
rs1430606134 CA372275604	45	V>M		No	ClinGen gnomAD
CA372275589 rs1372915652	47	P>A		No	ClinGen TOPMed gnomAD
rs1168758230 CA372275586	47	P>R		No	ClinGen gnomAD
CA372275588 rs1372915652	47	P>S		No	ClinGen TOPMed gnomAD
rs999428619 CA185636340	50	P>L		No	ClinGen TOPMed
CA372275568 rs1240006492	50	P>S		No	ClinGen TOPMed
rs1426144418 CA372275560	51	P>L		No	ClinGen gnomAD
rs1415162946 CA372275557	52	Q>*		No	ClinGen gnomAD
rs1181730691 CA372275524	57	G>R		No	ClinGen gnomAD
TCGA novel	57	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756032616 CA4874867	57	G>V		No	ClinGen ExAC TOPMed gnomAD
CA372275520 rs1264244513	58	G>R		No	ClinGen TOPMed
CA4874865 rs750239877	60	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1021817064 CA185636339	61	D>N		No	ClinGen TOPMed
CA4874863 rs761820083	62	G>S		No	ClinGen ExAC gnomAD
CA372275493 rs1202179874	62	G>V		No	ClinGen gnomAD
CA4874862 rs751053306	63	G>E		No	ClinGen ExAC gnomAD
CA185636338 rs556543947	63	G>R		No	ClinGen 1000Genomes gnomAD
rs1232559091 CA372275478	65	G>R		No	ClinGen TOPMed gnomAD
CA372275476 rs1232559091	65	G>W		No	ClinGen TOPMed gnomAD
CA372275469 rs1290266254	66	P>R		No	ClinGen TOPMed gnomAD
rs1479802900 CA372275470	66	P>S		No	ClinGen TOPMed
CA4874859 rs775146913	67	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372275458 rs1296598224	68	P>Q		No	ClinGen gnomAD
CA372275455 rs1459781874	69	P>T		No	ClinGen TOPMed gnomAD
CA4874855 rs374907543	70	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs761090983 CA4874856	70	Q>R		No	ClinGen ExAC gnomAD
CA4874854 rs74942061	71	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1275949724 CA372275426	73	P>L		No	ClinGen gnomAD
CA4874853 rs748652222	73	P>S		No	ClinGen ExAC TOPMed gnomAD
CA185636337 rs1000238845	74	Y>C		No	ClinGen Ensembl
CA372275405 rs1472754666	76	P>L		No	ClinGen gnomAD
TCGA novel	77	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778865864 CA4874852	77	R>W		No	ClinGen ExAC gnomAD
CA372275394 rs1489356559	79	H>N		No	ClinGen gnomAD
rs749315623 CA4874850	79	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs780491494 CA4874849	80	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs144786841 CA4874848	81	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781084316 CA4874846	83	C>*		No	ClinGen ExAC TOPMed gnomAD
rs945275967 CA185636336	84	S>F		No	ClinGen Ensembl
rs1229089218 CA372275360	84	S>P		No	ClinGen gnomAD
CA4874843 rs146098232	85	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4874841 rs368921235	87	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1460392196 CA372275334	88	R>Q		No	ClinGen gnomAD
rs1325627422 CA372275335	88	R>W		No	ClinGen TOPMed gnomAD
CA185636335 rs937745240	90	E>K		No	ClinGen Ensembl
CA372275315 rs1391468514	91	C>R		No	ClinGen gnomAD
CA372275307 rs1453876325	92	I>V		No	ClinGen gnomAD
rs773601733 CA4874837	94	Q>H		No	ClinGen ExAC gnomAD
CA4874836 rs375555909 COSM1623592	97	F>L	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1156539981 CA372275265	97	F>Y		No	ClinGen TOPMed gnomAD
CA4874834 rs774981310	98	A>E		No	ClinGen ExAC gnomAD
rs1301078652 CA372275247	100	G>V		No	ClinGen TOPMed
CA4874831 rs771634972	101	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771634972 CA372275243	101	S>W		No	ClinGen ExAC TOPMed gnomAD
CA372275238 rs1209225304	102	A>E		No	ClinGen gnomAD
CA372275232 rs1259008859	103	A>E		No	ClinGen gnomAD
CA372275228 rs1294400493	104	L>V		No	ClinGen TOPMed
CA372275221 rs1369792042	105	S>N		No	ClinGen TOPMed
rs974142345 CA185636334	107	Y>H		No	ClinGen TOPMed gnomAD
rs1367727112 CA372275202	108	T>A		No	ClinGen gnomAD
rs940997484 CA185636333	108	T>R		No	ClinGen TOPMed
CA372275193 rs1308624524	109	P>L		No	ClinGen TOPMed
rs757016305 CA372275185	110	E>D		No	ClinGen ExAC TOPMed gnomAD
CA372275191 rs1382121071	110	E>Q		No	ClinGen gnomAD
CA4874825 rs200454167	113	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1395312196 CA372275165	114	N>H		No	ClinGen gnomAD
rs758233298 CA4874824	114	N>K		No	ClinGen ExAC TOPMed gnomAD
rs908220730 CA185636332	115	K>*		No	ClinGen Ensembl
CA372275154 rs1391744950	115	K>N		No	ClinGen gnomAD
CA4874823 rs752230641	115	K>T		No	ClinGen ExAC gnomAD
rs1484583249 CA372275126	119	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA185636330 rs973294124	121	L>V		No	ClinGen TOPMed
rs1202246305 CA372275094	124	F>C		No	ClinGen gnomAD
rs1486003843 CA372275092	124	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	127	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232310359 CA372275078	127	Q>E		No	ClinGen gnomAD
CA185636329 rs866687917	128	A>S		No	ClinGen gnomAD
CA372275071 rs866687917	128	A>T		No	ClinGen gnomAD
TCGA novel	129	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753433460 CA4874820	129	Q>L		No	ClinGen ExAC gnomAD
CA4874819 rs372794366	130	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1336641978 CA372275049	131	P>Q		No	ClinGen gnomAD
CA372275050 rs1325192669	131	P>S		No	ClinGen gnomAD
rs1325192669 CA372275052	131	P>T		No	ClinGen gnomAD
rs1554597029 RCV000509106	132	H>missing		No	ClinVar dbSNP
TCGA novel	132	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel CA372275031 rs1311926045	133	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs774550101 CA4874817	133	W>R		No	ClinGen ExAC gnomAD
rs763319263 CA4874815	135	V>I		No	ClinGen ExAC gnomAD
rs769926861 CA4874813	136	Y>C		No	ClinGen ExAC gnomAD
CA372275003 rs1563640111	138	G>D		No	ClinGen Ensembl
CA372274960 rs1193211814	144	H>R		No	ClinGen Ensembl
rs1261198070 CA372274962	144	H>Y		No	ClinGen Ensembl
TCGA novel	146	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372274943 rs746098110	147	R>G		No	ClinGen ExAC TOPMed gnomAD
rs565418014 CA185636326	149	E>G		No	ClinGen 1000Genomes gnomAD
CA372274921 rs1484150175	150	V>G		No	ClinGen gnomAD
rs1274228170 CA372274894	154	F>Y		No	ClinGen gnomAD
TCGA novel	155	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296724145 CA372274884	156	T>A		No	ClinGen gnomAD
rs771050783 CA4874810	156	T>I		No	ClinGen ExAC gnomAD
CA372274871 rs1286489737	158	A>T		No	ClinGen gnomAD
rs1246116817 CA372274855	160	Q>*		No	ClinGen gnomAD
rs777387205 CA4874808	160	Q>R		No	ClinGen ExAC gnomAD
CA185636325 rs113192792	161	G>C		No	ClinGen ESP ExAC gnomAD
TCGA novel	161	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs113192792 CA4874806	161	G>R		No	ClinGen ESP ExAC gnomAD
rs113192792 CA185636324	161	G>S		No	ClinGen ESP ExAC gnomAD
CA4874804 rs754542166	166	V>L		No	ClinGen ExAC TOPMed gnomAD
CA372274780 rs753343531	172	R>H		No	ClinGen ExAC gnomAD
CA4874803 rs753343531	172	R>L		No	ClinGen ExAC gnomAD
rs1417314371 CA372274782	172	R>S		No	ClinGen TOPMed gnomAD
CA4874801 CA4874802 rs755700635	173	Y>*		No	ClinGen ExAC gnomAD
rs1233678774 CA372274775	173	Y>C		No	ClinGen gnomAD
rs959858841 CA185636323	173	Y>H		No	ClinGen TOPMed gnomAD
CA372274778 rs959858841	173	Y>N		No	ClinGen TOPMed gnomAD
rs751975317 CA4874800	174	K>R		No	ClinGen ExAC gnomAD
rs140928769 CA372274765	175	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214652900 CA372274762	175	P>L		No	ClinGen gnomAD
CA4874799 rs140928769	175	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260796936 CA372274761	176	L>V		No	ClinGen TOPMed
CA4874797 rs147312722	177	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4874796 rs765823342	177	S>N		No	ClinGen ExAC gnomAD
CA4874795 rs759753910	178	S>C		No	ClinGen ExAC gnomAD
rs1440884374 CA372274737	180	A>T		No	ClinGen gnomAD
CA372274706 rs1441282392	184	N>K		No	ClinGen gnomAD
rs1399182426 CA372274710	184	N>S		No	ClinGen TOPMed
rs112081066 CA185636319	185	A>S		No	ClinGen Ensembl
rs1158744374 CA372274690	187	A>V		No	ClinGen TOPMed
CA4874791 rs773067641	188	H>Q		No	ClinGen ExAC gnomAD
CA372274687 rs1162601821	188	H>Y		No	ClinGen gnomAD
rs1389437078 CA372274680	189	V>L		No	ClinGen TOPMed
rs538746544 CA4874790	191	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA185636317 rs899851645	193	E>A		No	ClinGen TOPMed
CA372274647 rs1468687466	194	R>H		No	ClinGen TOPMed gnomAD
CA4874789 rs747928139	195	E>Q		No	ClinGen ExAC gnomAD
rs778889826 CA4874788	197	S>R		No	ClinGen ExAC gnomAD
CA372274628 rs1467372168 COSM1330325	197	S>T	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA372274614 rs1251504760	199	R>C		No	ClinGen gnomAD
rs1355390871 CA372274612	199	R>P		No	ClinGen gnomAD
CA372274598 rs1211021704	201	S>W		No	ClinGen gnomAD
rs1284554717 CA372274590	202	E>D		No	ClinGen TOPMed gnomAD
CA4874787 rs768552126	202	E>G		No	ClinGen ExAC gnomAD
rs748846968 CA372274566	206	A>S		No	ClinGen ExAC gnomAD
CA4874785 rs748846968	206	A>T		No	ClinGen ExAC gnomAD
rs1222837457 CA372274557	207	W>L		No	ClinGen TOPMed
TCGA novel	209	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372274519 rs1323608827	212	K>N		No	ClinGen gnomAD
TCGA novel	212	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437050232 CA372274516	213	R>G		No	ClinGen gnomAD
CA4874783 rs755822525	213	R>H		No	ClinGen ExAC gnomAD
CA372274507 rs1317922788	214	E>V		No	ClinGen gnomAD
CA372274493 rs1427346641	216	K>T		No	ClinGen gnomAD
CA372274482 rs964474565	217	I>M		No	ClinGen TOPMed gnomAD
CA372274478 rs1454199500	218	G>D		No	ClinGen TOPMed gnomAD
CA372274476 rs1454199500	218	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1190860250 CA372274474	219	G>S		No	ClinGen gnomAD
rs758887907 CA4874781	220	E>*		No	ClinGen ExAC gnomAD
rs758887907 CA4874780	220	E>K		No	ClinGen ExAC gnomAD
CA4874779 rs753104300	222	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1262381925 CA372274447	223	I>M		No	ClinGen TOPMed
rs765880427 CA4874778	224	G>R		No	ClinGen ExAC gnomAD
rs1281816893 CA372274442	224	G>V		No	ClinGen gnomAD
rs1019606571 CA185636313	225	K>Q		No	ClinGen TOPMed
rs1234436862 CA372274424	227	P>S		No	ClinGen gnomAD
CA4874776 rs753985801	228	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA372274416 rs753985801	228	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA4874775 rs766306917	229	R>G		No	ClinGen ExAC TOPMed
rs1176798689 CA372274412	229	R>Q		No	ClinGen TOPMed
CA372274413 rs766306917	229	R>W		No	ClinGen ExAC TOPMed
rs1428872691 CA372274383	233	Q>H		No	ClinGen gnomAD
rs760967885 CA4874773	233	Q>R		No	ClinGen ExAC gnomAD
rs773367833 CA4874772	236	A>T		No	ClinGen ExAC TOPMed gnomAD
CA372274367 rs1374120696	236	A>V		No	ClinGen gnomAD
rs569513713 COSM3951276 CA185636310	237	Q>K	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes
CA4874771 rs200030359	238	R>L		No	ClinGen ExAC TOPMed gnomAD
rs200030359 CA4874770	238	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4874769 rs17854766	239	S>R		No	ClinGen ExAC TOPMed gnomAD
CA372274344 rs1336783600	240	H>R		No	ClinGen TOPMed
CA185636308 rs896431841	241	T>M		No	ClinGen TOPMed
CA185636306 rs929174529	245	Q>R		No	ClinGen TOPMed gnomAD
CA372274299 rs1485066677	246	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs898960203 CA185636305	249	D>A		No	ClinGen TOPMed gnomAD
TCGA novel	249	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371909525 CA4874765	250	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4874764 rs745369982	252	M>T		No	ClinGen ExAC TOPMed gnomAD
CA185636304 rs1056682555	252	M>V		No	ClinGen Ensembl
CA372274234 rs1212626269	256	R>L		No	ClinGen gnomAD
rs1235826728 CA372274231	257	N>D		No	ClinGen gnomAD
rs780772163 CA4874763	257	N>K		No	ClinGen ExAC
CA372274224 rs1357561971 COSM1187612	258	D>Y	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA185636303 rs937897160	259	Q>E		No	ClinGen Ensembl
CA372274213 rs1294154910 CA372274212	259	Q>H		No	ClinGen TOPMed gnomAD
CA4874762 rs148176598 COSM123042	260	I>F	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4874761 rs748568137	260	I>M		No	ClinGen ExAC gnomAD
rs1300032573 CA372274206	261	G>R		No	ClinGen gnomAD
TCGA novel	262	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462927010 CA372274196	262	R>P		No	ClinGen gnomAD
CA372274190 rs941132916	263	A>G		No	ClinGen gnomAD
rs1168730315 CA372274194	263	A>T		No	ClinGen gnomAD
rs941132916 CA185636300	263	A>V		No	ClinGen gnomAD
rs1419498401 CA372274184	264	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4874759 rs755550800	266	L>M		No	ClinGen ExAC
rs754246135 CA4874758	267	Q>R		No	ClinGen ExAC gnomAD
rs144431781 CA4874756	268	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs144431781 CA4874757	268	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750486835 CA372274160	269	L>F		No	ClinGen ExAC TOPMed gnomAD
rs750486835 CA4874755	269	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4874754 rs368094139	270	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232261809 CA372274146 COSM1454780	271	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA185636299 rs778043627	272	H>R		No	ClinGen gnomAD
rs1586532501 CA372274137	273	L>M		No	ClinGen Ensembl
rs576789380 CA4874751	275	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4874750 rs775346007	275	P>L		No	ClinGen ExAC gnomAD
CA4874749 rs775346007	275	P>R		No	ClinGen ExAC gnomAD
CA372274123 rs576789380	275	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1309203794 CA372274118	276	A>E		No	ClinGen TOPMed gnomAD
CA372274117 rs1309203794	276	A>G		No	ClinGen TOPMed gnomAD
CA372274116 rs1309203794	276	A>V		No	ClinGen TOPMed gnomAD
CA372274108 rs375199157	277	E>D		No	ClinGen ESP gnomAD
rs1228779543 CA372274107	278	P>A		No	ClinGen TOPMed
rs79248636 CA372274103	278	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4874747 rs79248636	278	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4874746 rs776180702	279	E>G		No	ClinGen ExAC TOPMed gnomAD
CA4874745 rs770726841	280	E>A		No	ClinGen ExAC TOPMed gnomAD
CA185636297 rs770726841	280	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1395666098 CA372274092	280	E>K		No	ClinGen TOPMed gnomAD
rs746597425 CA4874744	281	G>D		No	ClinGen ExAC gnomAD
rs1302510831 CA372274077	282	D>E		No	ClinGen gnomAD
CA372274082 rs374699943	282	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs374699943 CA4874742	282	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA372274070 rs1214077121	283	S>R		No	ClinGen TOPMed
CA4874741 rs749662617	284	N>K		No	ClinGen ExAC gnomAD
rs1249656129 CA372274056	285	V>G		No	ClinGen gnomAD
CA372274051 rs1175411669	286	A>G		No	ClinGen TOPMed gnomAD
rs1175411669 CA372274050	286	A>V		No	ClinGen TOPMed gnomAD
CA4874738 rs750491887	287	R>G		No	ClinGen ExAC
CA372274048 rs1253374811	287	R>Q		No	ClinGen gnomAD
CA372274042 rs1406541180	288	T>S		No	ClinGen TOPMed
rs1391026011 CA372274043	288	T>S		No	ClinGen TOPMed
rs767547351 CA4874737	289	T>A		No	ClinGen ExAC gnomAD
rs560326320 CA4874736	290	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560326320 CA372274031	290	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1262740077 CA372274024	291	P>L		No	ClinGen gnomAD
CA4874734 rs764286582	292	P>H		No	ClinGen ExAC TOPMed gnomAD
rs764286582 CA185636296	292	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751721294 CA4874735	292	P>S		No	ClinGen ExAC gnomAD
rs1305041618 CA372274019	293	G>R		No	ClinGen gnomAD
rs1237124606 CA372274014	294	R>G		No	ClinGen gnomAD
rs1372421180 CA372274011	294	R>L		No	ClinGen gnomAD
rs1237124606 CA372274013	294	R>S		No	ClinGen gnomAD
CA4874731 rs765132100	295	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4874732 rs765132100	295	P>R		No	ClinGen ExAC TOPMed gnomAD
rs545145275 CA4874730	296	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1290276089 CA372274002	296	P>L		No	ClinGen gnomAD
CA185636295 rs545145275	296	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545145275 COSM119659 CA4874729	296	P>T	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA372273992 rs1211652283	298	P>R		No	ClinGen TOPMed
rs770510445 CA4874727	298	P>S		No	ClinGen ExAC TOPMed gnomAD
rs760250251 CA4874726	299	S>I		No	ClinGen ExAC gnomAD
rs760250251 CA372273987	299	S>N		No	ClinGen ExAC gnomAD
rs531850133 CA4874724	300	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA372273978 rs770237284	301	E>*		No	ClinGen ExAC gnomAD
rs770237284 CA4874721	301	E>K		No	ClinGen ExAC gnomAD
rs770237284 CA4874722	301	E>Q		No	ClinGen ExAC gnomAD
CA372273971 rs562691402	302	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4874719 rs562691402	302	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372273959 rs1205937605	303	E>D		No	ClinGen gnomAD
CA4874718 rs757385407	304	D>G		No	ClinGen ExAC gnomAD
CA372273948 rs1213160308	305	G>*		No	ClinGen TOPMed gnomAD
rs1349177416 CA372273947	305	G>E		No	ClinGen gnomAD
CA372273950 rs1213160308	305	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	306	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372273934 rs1232470938	307	A>T		No	ClinGen TOPMed gnomAD
rs1328564963 CA372273931	307	A>V		No	ClinGen gnomAD
rs751633609 CA4874717	310	H>Y		No	ClinGen ExAC gnomAD
rs778008176 CA4874716	311	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1436071557 CA372273907	311	H>W		No	ClinGen TOPMed gnomAD

No associated diseases with Q96KN1

1 regional properties for Q96KN1

Type	Name	Position	InterPro Accession
domain	LRAT domain	115 - 217	IPR007053

Functions

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

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

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

10	20	30	40	50	60
MGNQVEKLTH	LSYKEVPTAD	PTGVDRDDGP	RIGVSYIFSN	DDEDVEPQPP	PQGPDGGGLP
70	80	90	100	110	120
DGGDGPPPPQ	PQPYDPRLHE	VECSVFYRDE	CIYQKSFAPG	SAALSTYTPE	NLLNKCKPGD
130	140	150	160	170	180
LVEFVSQAQY	PHWAVYVGNF	QVVHLHRLEV	INSFLTDASQ	GRRGRVVNDL	YRYKPLSSSA
190	200	210	220	230	240
VVRNALAHVG	AKERELSWRN	SESFAAWCRY	GKREFKIGGE	LRIGKQPYRL	QIQLSAQRSH
250	260	270	280	290	300
TLEFQSLEDL	IMEKRRNDQI	GRAAVLQELA	THLHPAEPEE	GDSNVARTTP	PPGRPPAPSS

EEEDGEAVAH