AiPD: Autoinhibited Protein Database

Q6PKG0

Gene name	LARP1 (KIAA0731, LARP)
Protein name	La-related protein 1
Names	La ribonucleoprotein domain family member 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23367
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

35-118 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

35-118 (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

8 structures for Q6PKG0

Entry ID	Method	Resolution	Chain	Position	Source
4ZC4	X-ray	186 A	A/B/C/D	873-1023	PDB
5C0V	X-ray	220 A	A/B/C/D	873-1023	PDB
5V4R	X-ray	177 A	A/B	873-1023	PDB
5V7C	X-ray	259 A	B	873-1023	PDB
5V87	X-ray	169 A	A/B	873-1023	PDB
6PW3	X-ray	234 A	A/B/C/D	873-1023	PDB
7SOW	X-ray	130 A	A	400-487	PDB
AF-Q6PKG0-F1	Predicted				AlphaFoldDB

625 variants for Q6PKG0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA362006073 rs1333178391	3	T>A		No	ClinGen TOPMed
rs1300983656 CA362006083	4	Q>H		No	ClinGen Ensembl
CA130440350 rs890254147	6	E>D		No	ClinGen TOPMed
rs752710340 CA3526782	10	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1246545854 CA362006114	10	P>T		No	ClinGen TOPMed
rs757274461 CA362006122	11	G>E		No	ClinGen ExAC TOPMed gnomAD
rs757274461 CA3526783	11	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1400206084 CA362006124	12	G>S		No	ClinGen Ensembl
rs1184939761 CA362006139	14	T>K		No	ClinGen gnomAD
rs1460811603 CA362006155	17	Q>K		No	ClinGen TOPMed
rs1198967611 CA362006158	17	Q>P		No	ClinGen gnomAD
rs970507753 CA130440354	21	H>L		No	ClinGen Ensembl
rs981544827 CA362006193 CA130440355	22	G>R		No	ClinGen TOPMed gnomAD
rs1193380870 CA362006196	22	G>V		No	ClinGen TOPMed gnomAD
CA362006192 rs981544827	22	G>W		No	ClinGen TOPMed gnomAD
rs778690084 CA3526784	23	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3526785 rs750323415	23	G>V		No	ClinGen ExAC TOPMed gnomAD
rs779771124 CA3526787	28	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1375850151 CA362006239	29	P>Q		No	ClinGen gnomAD
CA362006236 rs1270097354	29	P>S		No	ClinGen TOPMed
rs1339114670 CA362006249	31	P>Q		No	ClinGen TOPMed
rs1339114670 CA362006250	31	P>R		No	ClinGen TOPMed
CA362006248 rs1210873536	31	P>S		No	ClinGen TOPMed
rs746672356 CA3526788	32	A>T		No	ClinGen ExAC TOPMed gnomAD
CA362006264 rs1297618868	34	E>K		No	ClinGen TOPMed
rs1440087159 CA362006274	35	G>D		No	ClinGen TOPMed
rs1300783072 CA362006271	35	G>S		No	ClinGen gnomAD
CA362006288 rs1318033234	37	G>V		No	ClinGen gnomAD
rs970864295 CA130440357	39	P>S		No	ClinGen TOPMed gnomAD
rs982637309 CA362006305	40	G>R		No	ClinGen TOPMed
rs982637309 CA130440358	40	G>W		No	ClinGen TOPMed
rs1400852141 CA362006309	41	P>T		No	ClinGen gnomAD
rs1365263505 CA362006328	43	D>A		No	ClinGen gnomAD
rs941294121 CA130440362	45	R>L		No	ClinGen gnomAD
rs941294121 CA362006340	45	R>P		No	ClinGen gnomAD
rs908445859 CA130440361	45	R>S		No	ClinGen TOPMed gnomAD
rs768189657 CA362006344	46	G>A		No	ClinGen ExAC TOPMed gnomAD
rs768189657 CA3526789	46	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1298329723 CA362006342	46	G>R		No	ClinGen TOPMed gnomAD
rs768189657 CA130440363	46	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1298329723 CA362006343	46	G>W		No	ClinGen TOPMed gnomAD
CA130440365 rs932374806	47	G>R		No	ClinGen TOPMed
CA362006346 rs932374806	47	G>W		No	ClinGen TOPMed
rs1350514285 CA362006354	48	E>G		No	ClinGen gnomAD
CA362006350 rs1304558450	48	E>K		No	ClinGen gnomAD
CA3526791 rs554446857	53	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1218190594 CA362006390	53	A>V		No	ClinGen TOPMed
rs770372671 CA3526792	56	P>L		No	ClinGen ExAC TOPMed gnomAD
CA130440366 rs763215039	58	P>L		No	ClinGen TOPMed gnomAD
CA130440367 rs1053326313	61	A>S		No	ClinGen TOPMed gnomAD
CA362006455 rs1156285102	64	H>R		No	ClinGen TOPMed gnomAD
CA130440368 rs899005457	68	T>I		No	ClinGen TOPMed gnomAD
CA130440369 rs994739790	72	E>G		No	ClinGen TOPMed
CA362006542 rs1173699731	76	P>L		No	ClinGen TOPMed
CA362006577 rs1410218421	82	P>L		No	ClinGen TOPMed
CA130440371 rs1011834306	86	G>V		No	ClinGen TOPMed
CA362006605 rs1252148017	87	P>S		No	ClinGen TOPMed
rs887071754 CA130440372	91	D>V		No	ClinGen TOPMed
rs768858958 CA130440373	92	G>R		No	ClinGen Ensembl
rs1023364540 CA130440374	94	E>K		No	ClinGen gnomAD
rs1004205618 CA130440375	95	G>S		No	ClinGen TOPMed
CA362006683 rs1455465255	99	P>A		No	ClinGen gnomAD
CA3526794 rs546510316	100	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA3526797 rs367570056	106	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362006736 rs1230061108	108	A>S		No	ClinGen TOPMed
rs1350851194 CA362006738	108	A>V		No	ClinGen TOPMed
CA362006757 rs1373634235	111	A>V		No	ClinGen TOPMed gnomAD
rs191985333 CA3526800	112	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362006766 rs1387167373	113	R>H		No	ClinGen TOPMed
rs1300811898 CA362006772	114	R>L		No	ClinGen gnomAD
CA130440380 rs989709867	114	R>W		No	ClinGen TOPMed
CA130440382 rs908549721	118	E>G		No	ClinGen Ensembl
CA362006802 rs1417538632	119	A>T		No	ClinGen TOPMed
rs764187256 CA3526804	119	A>V		No	ClinGen ExAC gnomAD
rs982986550 CA130440383	120	P>L		No	ClinGen Ensembl
rs758268818 CA362006812	121	P>A		No	ClinGen ExAC gnomAD
rs374889905 CA3526807	121	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374889905 CA3526808	121	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs758268818 CA362006813	121	P>S		No	ClinGen ExAC gnomAD
rs758268818 CA3526806	121	P>T		No	ClinGen ExAC gnomAD
CA362006831 rs1189202339	124	V>L		No	ClinGen gnomAD
rs1266431018 CA362006850	127	W>R		No	ClinGen gnomAD
rs1419238829 CA362006858	128	T>A		No	ClinGen gnomAD
CA130440384 rs987157691	129	K>Q		No	ClinGen TOPMed gnomAD
rs1456306240 CA362006877	130	N>K		No	ClinGen gnomAD
rs1166260586 CA362006879	131	A>T		No	ClinGen gnomAD
CA362006896 rs1287999148	133	P>L		No	ClinGen TOPMed gnomAD
rs1582296868 CA362006902	134	P>R		No	ClinGen Ensembl
CA362006942 rs1284988267	141	G>R		No	ClinGen TOPMed
rs1393356423 CA362006958	143	S>C		No	ClinGen TOPMed gnomAD
rs1232712183 CA362006956	143	S>P		No	ClinGen gnomAD
rs769207511 CA3526813	144	P>L		No	ClinGen ExAC gnomAD
rs777360014 CA362006969	145	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3526814 rs777360014	145	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA130440386 rs777360014	145	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3526837 rs566672013	147	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA3526838 rs779528012	150	P>S		No	ClinGen ExAC gnomAD
CA3526840 rs772338891	158	V>L		No	ClinGen ExAC TOPMed gnomAD
CA361919198 rs1242211984	159	P>L		No	ClinGen TOPMed gnomAD
rs1409166701 CA361919200	160	K>E		No	ClinGen TOPMed
rs1466591050 CA361919210	161	Q>P		No	ClinGen gnomAD
rs775862354 CA3526841	162	R>C		No	ClinGen ExAC TOPMed gnomAD
rs145483176 CA3526843	162	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs145483176 CA130072840	162	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3526842 rs775862354	162	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1163508602 CA361919234	165	S>N		No	ClinGen gnomAD
CA361919260 rs1387766208	167	V>I		No	ClinGen gnomAD
CA361919265 rs1325211651	168	G>S		No	ClinGen gnomAD
rs1372039003 CA361919271	169	D>N		No	ClinGen TOPMed
rs202094589 CA3526857	175	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1288650072 CA361919339	178	T>K		No	ClinGen gnomAD
CA3526858 rs780344995	181	E>K		No	ClinGen ExAC gnomAD
rs747377406 CA3526859	182	I>T		No	ClinGen ExAC gnomAD
CA130073038 rs777950032	183	A>T		No	ClinGen Ensembl
CA361919376 rs1582420183	184	H>R		No	ClinGen Ensembl
rs1414145159 CA361919373	184	H>Y		No	ClinGen gnomAD
CA361919398 rs1266979758	187	V>L		No	ClinGen gnomAD
rs768907726 CA3526860	188	Q>L		No	ClinGen ExAC gnomAD
CA3526887 rs147239215	189	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs749361121 CA3526888	191	S>A		No	ClinGen ExAC TOPMed gnomAD
rs749361121 CA361919738	191	S>P		No	ClinGen ExAC TOPMed gnomAD
rs771940063 CA3526889	191	S>Y		No	ClinGen ExAC gnomAD
CA3526890 rs140737369	194	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3526891 rs760638327	196	P>L		No	ClinGen ExAC gnomAD
rs1582426890 CA361919820	197	T>S		No	ClinGen Ensembl
CA3526892 rs768578356	198	R>C		No	ClinGen ExAC gnomAD
rs761619914 CA3526895	202	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3526894 rs761619914	202	P>S		No	ClinGen ExAC TOPMed gnomAD
CA361919883 rs1582426970	203	K>E		No	ClinGen Ensembl
rs1434875604 CA361919901	204	K>R		No	ClinGen gnomAD
CA361919930 rs1302451745	206	M>L		No	ClinGen TOPMed gnomAD
CA361919928 rs1302451745	206	M>V		No	ClinGen TOPMed gnomAD
CA3526896 rs749941251	213	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3526897 rs762556667	214	G>E		No	ClinGen ExAC gnomAD
CA3526898 rs765759157	215	S>N		No	ClinGen ExAC TOPMed gnomAD
CA130074417 rs201484146	217	S>G		No	ClinGen Ensembl
rs1363267309 CA361920084	220	S>G		No	ClinGen gnomAD
CA3526900 rs755409723	225	S>T		No	ClinGen ExAC gnomAD
CA361920206 rs1185664842	228	S>L		No	ClinGen gnomAD
CA361920257 rs1267805116	232	K>R		No	ClinGen gnomAD
CA3526922 rs144894202	254	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361921063 rs1456757745	257	I>T		No	ClinGen gnomAD
CA361921076 rs1293131026	259	M>V		No	ClinGen gnomAD
CA361921091 rs756529014	261	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3526924 rs756529014	261	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3526926 rs754100873	264	P>L		No	ClinGen ExAC gnomAD
rs779111272 CA3526928	267	K>N		No	ClinGen ExAC gnomAD
CA361921141 rs1323251828	268	L>R		No	ClinGen gnomAD
rs199813345 CA130075266	269	A>T		No	ClinGen 1000Genomes
rs745924187 CA3526929	271	R>C		No	ClinGen ExAC TOPMed gnomAD
CA130075280 rs897696248	271	R>H		No	ClinGen TOPMed gnomAD
CA3526930 rs755010220	272	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1582430045 CA361921162	273	T>P		No	ClinGen Ensembl
CA361921168 rs1432396351	274	R>C		No	ClinGen gnomAD
rs779864945 CA3526931	274	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769646240 CA3526933	276	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3526932 rs748050914	276	P>T		No	ClinGen ExAC TOPMed gnomAD
rs533053563 CA3526935	277	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA3526936 rs770474852	278	P>S		No	ClinGen ExAC gnomAD
CA361921195 rs1431853115	279	R>G		No	ClinGen gnomAD
CA361921197 rs1306463485	279	R>K		No	ClinGen gnomAD
rs773900121 CA3526937	279	R>S		No	ClinGen ExAC gnomAD
CA3526938 rs759012116	281	I>V		No	ClinGen ExAC gnomAD
rs1304692254 CA361921220	282	P>L		No	ClinGen gnomAD
rs1381189799 CA361921227	284	N>D		No	ClinGen gnomAD
rs1381189799 CA361921229	284	N>H		No	ClinGen gnomAD
CA361921231 rs749178227	284	N>I		No	ClinGen ExAC TOPMed gnomAD
CA3526940 rs749178227	284	N>S		No	ClinGen ExAC TOPMed gnomAD
rs761026821 CA3526941	285	R>C		No	ClinGen ExAC TOPMed gnomAD
CA361921234 rs761026821	285	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3526942 rs764588090 COSM1213098	285	R>H	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA130075361 rs761026821	285	R>S		No	ClinGen ExAC TOPMed gnomAD
CA361921237 rs1272104521	286	G>R		No	ClinGen gnomAD
CA361921250 rs1561611263	287	E>D		No	ClinGen Ensembl
CA3526944 rs757549016	288	I>V		No	ClinGen ExAC gnomAD
CA361921259 rs1210165327	289	K>E		No	ClinGen gnomAD
rs1210165327 CA361921258	289	K>Q		No	ClinGen gnomAD
rs765525971 CA3526945	289	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1466663741 CA361921279	290	G>E		No	ClinGen gnomAD
rs151100873 CA3526958	291	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1241905333 CA361921290	292	E>A		No	ClinGen gnomAD
CA3526960 rs777094271	295	T>I		No	ClinGen ExAC TOPMed gnomAD
CA361921316 rs1469399372	296	Y>C		No	ClinGen gnomAD
CA3526962 rs145378893	297	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3526965 rs766635412 RCV000912016	299	V>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA130075613 rs1036600812	300	A>D		No	ClinGen gnomAD
rs1168661265 CA361921337	300	A>P		No	ClinGen TOPMed
CA361921339 rs1036600812	300	A>V		No	ClinGen gnomAD
rs770718972 CA3526969	301	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1288452788 CA361921348	302	P>H		No	ClinGen gnomAD
rs1288452788 CA361921349	302	P>R		No	ClinGen gnomAD
rs777536348 CA361921347	302	P>S		No	ClinGen ExAC gnomAD
CA3526970 rs777536348	302	P>T		No	ClinGen ExAC gnomAD
CA3526973 rs778620076	303	T>P		No	ClinGen ExAC
CA361921357 rs745522149	304	P>A		No	ClinGen ExAC gnomAD
rs745522149 CA3526974	304	P>S		No	ClinGen ExAC gnomAD
rs746470619 CA3526977 CA361921376	306	W>C		No	ClinGen ExAC TOPMed gnomAD
CA3526976 rs779590597	306	W>L		No	ClinGen ExAC TOPMed gnomAD
rs779590597 CA361921372	306	W>S		No	ClinGen ExAC TOPMed gnomAD
CA3526978 rs375282718	307	Q>E		No	ClinGen ESP ExAC gnomAD
rs1182931820 CA361921437	309	E>V		No	ClinGen gnomAD
rs762327673 CA3526980	312	P>A		No	ClinGen ExAC gnomAD
rs371021275 CA3526981	312	P>L		No	ClinGen ESP ExAC TOPMed
rs763321852 CA361921531	314	P>A		No	ClinGen ExAC gnomAD
rs763321852 CA3526983	314	P>S		No	ClinGen ExAC gnomAD
rs1040067052 CA130075715	315	A>P		No	ClinGen TOPMed gnomAD
rs1040067052 CA361921556	315	A>S		No	ClinGen TOPMed gnomAD
CA3526984 rs766684308	316	W>R		No	ClinGen ExAC gnomAD
rs751697425 CA3526985	317	H>D		No	ClinGen ExAC gnomAD
CA361921710 rs1561611872	322	T>K		No	ClinGen Ensembl
rs1403966374 CA361921750	323	S>L		No	ClinGen gnomAD
rs1403966374 CA361921747	323	S>W		No	ClinGen gnomAD
rs904042644 CA130075748	326	K>N		No	ClinGen Ensembl
rs368771276 CA3526988	327	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1237506225 CA361921958	331	G>S		No	ClinGen gnomAD
CA3526989 rs757118086	332	G>V		No	ClinGen ExAC TOPMed gnomAD
CA3526990 rs199963692	333	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs779604829 CA130075772	334	R>P		No	ClinGen ExAC gnomAD
rs779604829 COSM1435422 CA3526993	334	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3526992 rs150154497	334	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA130075780 rs960042908	336	S>F		No	ClinGen TOPMed
CA3526995 rs776372021	337	F>S		No	ClinGen ExAC TOPMed gnomAD
CA361922073 rs1479520806	338	R>C		No	ClinGen TOPMed
rs770414206 CA3526998	340	R>C		No	ClinGen ExAC gnomAD
rs759446230 CA3526999	340	R>H		No	ClinGen ExAC gnomAD
rs1164719682 CA361922128	341	G>A		No	ClinGen gnomAD
rs201269394 CA3527000	342	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA361922134 rs1383159681	342	R>W		No	ClinGen gnomAD
CA361922159 rs1371844980	344	R>C		No	ClinGen TOPMed gnomAD
rs1389218227 CA361922168	344	R>H		No	ClinGen gnomAD
CA3527002 rs771378985	346	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3527003 rs189865108	346	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs189865108 CA3527004	346	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361922220 rs775633522	347	G>C		No	ClinGen ExAC TOPMed gnomAD
CA3527006 rs775633522	347	G>S		No	ClinGen ExAC TOPMed gnomAD
COSM1310882 rs761790075 CA3527007	347	G>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361922230 rs1337728379	348	R>Q		No	ClinGen gnomAD
rs992080696 CA130075839	348	R>W		No	ClinGen TOPMed gnomAD
CA3527008 rs367704683	349	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3527010 rs371532945	350	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs758211756 CA3527011	350	R>H		No	ClinGen ExAC TOPMed gnomAD
rs556196297 CA3527014	351	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556196297 CA3527013	351	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361922300 rs1391589685	352	R>L		No	ClinGen gnomAD
CA361922296 rs1391589685	352	R>Q		No	ClinGen gnomAD
CA3527015 rs780627190	352	R>W		No	ClinGen ExAC TOPMed gnomAD
rs961751166 CA130075887	355	T>I		No	ClinGen TOPMed gnomAD
CA361922344 rs1402304490	356	R>G		No	ClinGen gnomAD
COSM3827514 CA3527017 rs756724516	356	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA130076001 rs764919267	358	H>P		No	ClinGen gnomAD
CA361922460 rs764919267	358	H>R		No	ClinGen gnomAD
rs757777766 CA361922547 CA361922543	362	Q>H		No	ClinGen ExAC gnomAD
CA3527040 rs779201399	364	G>S		No	ClinGen ExAC gnomAD
COSM1213097 rs1561612554 CA361922598	366	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA361922599 rs1473202231	366	R>Q		No	ClinGen TOPMed gnomAD
rs1162068192 CA361922631	368	F>Y		No	ClinGen gnomAD
rs1244668937 CA361922702	371	V>G		No	ClinGen TOPMed
CA3527041 rs746213977	371	V>M		No	ClinGen ExAC gnomAD
rs376028002 CA3527042	373	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3527043 rs141480802	375	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3527045 rs747178376	375	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3527044 rs747178376	375	R>P		No	ClinGen ExAC TOPMed gnomAD
rs35598061 CA3527046	376	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1228920678 CA361922782	377	P>A		No	ClinGen gnomAD
rs770882040 CA3527048	380	M>V		No	ClinGen ExAC gnomAD
CA3527049 rs774050826	381	N>Y		No	ClinGen ExAC gnomAD
CA361922883 rs1490718805	382	N>D		No	ClinGen gnomAD
CA130076073 rs1031737172 CA361922893	382	N>K		No	ClinGen TOPMed gnomAD
rs759403986 CA3527050	384	T>I		No	ClinGen ExAC gnomAD
CA361922930 rs1179432012	385	Y>C		No	ClinGen gnomAD
CA3527052 rs752407358	390	V>I		No	ClinGen ExAC TOPMed gnomAD
CA130076093 rs1042113495	393	T>I		No	ClinGen Ensembl
CA130076099 rs149559149	394	E>A		No	ClinGen Ensembl
rs763763310 CA3527054	398	V>M		No	ClinGen ExAC gnomAD
rs199822685 CA3527055	399	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1365573237 CA361923193	404	K>I		No	ClinGen TOPMed
rs144538564 CA3527059	406	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386227373 CA361923255	408	K>R		No	ClinGen TOPMed
rs1361402067 CA361923270	409	R>C		No	ClinGen gnomAD
rs1167652861 CA361923273 COSM1595144	409	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs949198553 CA130076709	417	V>A		No	ClinGen gnomAD
CA361923620 rs949198553	417	V>G		No	ClinGen gnomAD
CA3527075 rs200946457	417	V>M		No	ClinGen ExAC gnomAD
CA3527076 rs375585440	418	D>N		No	ClinGen ESP ExAC gnomAD
CA130076726 rs1038584923	422	R>Q		No	ClinGen TOPMed
CA130076738 rs111543317	423	D>V		No	ClinGen Ensembl
CA3527078 rs758829062	428	R>S		No	ClinGen ExAC gnomAD
rs1258237834 CA361923875	432	A>S		No	ClinGen TOPMed
rs1202550067 CA361923883	432	A>V		No	ClinGen TOPMed
CA361923891 rs1476508971	433	D>Y		No	ClinGen gnomAD
rs1582435961 CA361923943	437	P>S		No	ClinGen Ensembl
rs994385825 CA130076776	445	H>R		No	ClinGen TOPMed
rs1233909296 CA361924098	446	R>Q		No	ClinGen TOPMed
rs1178715574 CA361924142	449	A>S		No	ClinGen gnomAD
rs755236202 CA3527081	449	A>V		No	ClinGen ExAC gnomAD
CA3527083 rs748267079	457	I>V		No	ClinGen ExAC gnomAD
CA361926118 rs1408418762	461	L>I		No	ClinGen gnomAD
rs766842639 CA3527097	465	K>N		No	ClinGen ExAC gnomAD
rs746950001 CA130080087	466	V>A		No	ClinGen Ensembl
rs143899837 CA361926253	469	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3527099 rs755354788	469	I>V		No	ClinGen ExAC gnomAD
rs374901826 CA3527102	470	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs752964192 CA3527101	470	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3527103 rs777966789	471	D>N		No	ClinGen ExAC gnomAD
rs147277237 CA3527104	474	V>A		No	ClinGen ESP ExAC gnomAD
rs374230754 CA130080113	474	V>I		No	ClinGen Ensembl
rs1222376109 CA361926374	475	R>H		No	ClinGen gnomAD
rs1582454562 CA361926435	478	E>D		No	ClinGen Ensembl
rs758447839 CA3527105	479	E>K		No	ClinGen ExAC gnomAD
CA361926473 rs1452334518	481	E>D		No	ClinGen gnomAD
rs1249545926 CA361926475	482	K>E		No	ClinGen TOPMed
rs897582531 CA130080129	484	P>L		No	ClinGen Ensembl
CA3527106 rs140674663	487	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs556328006 CA3527107	488	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1175996575 CA361926690	498	Q>K		No	ClinGen TOPMed gnomAD
rs1233350490 CA361926728	501	N>D		No	ClinGen gnomAD
rs747895737 CA3527110	501	N>S		No	ClinGen ExAC gnomAD
rs772821134 CA3527112	508	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3527113 rs762483737	508	R>H		No	ClinGen ExAC TOPMed gnomAD
CA361926906 rs1165135365	514	E>V		No	ClinGen gnomAD
CA130080372 rs913984854	517	S>L		No	ClinGen gnomAD
rs946835367 CA130080380	523	R>C		No	ClinGen gnomAD
CA361927135 rs760976850	523	R>H		No	ClinGen ExAC gnomAD
CA3527139 rs760976850	523	R>P		No	ClinGen ExAC gnomAD
rs144624261 CA3527140	524	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA130080386 rs144624261	524	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361927163 rs1330941178	524	A>V		No	ClinGen TOPMed
rs376771247 CA3527141	525	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1474165617 CA361927294	528	V>G		No	ClinGen gnomAD
CA361927296 rs1166843936	529	P>A		No	ClinGen gnomAD
rs750511941 CA3527144	530	T>A		No	ClinGen ExAC TOPMed gnomAD
rs750511941 CA361927319	530	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1335131395 CA361927379	532	T>S		No	ClinGen gnomAD
CA3527145 rs754986130	535	V>D		No	ClinGen ExAC gnomAD
rs781027630 CA3527146	537	N>H		No	ClinGen ExAC gnomAD
CA361927543 rs1250228190	539	K>R		No	ClinGen TOPMed gnomAD
CA3527147 rs752635141	540	T>I		No	ClinGen ExAC TOPMed gnomAD
CA361927652 rs925830671	543	K>N		No	ClinGen gnomAD
rs1183340705 CA361927723	546	S>C		No	ClinGen TOPMed
CA361927843 rs1205324765	551	D>E		No	ClinGen gnomAD
rs1444949471 CA361927987	559	E>K		No	ClinGen gnomAD
CA3527151 rs749004526	560	V>L		No	ClinGen ExAC gnomAD
rs538640769 CA130080503	564	P>L		No	ClinGen Ensembl
CA130080509 rs1055689139	565	R>L		No	ClinGen gnomAD
CA361928093 rs1055689139	565	R>Q		No	ClinGen gnomAD
rs1481696091 CA361928091	565	R>W		No	ClinGen TOPMed gnomAD
CA361928117 rs1428987030	567	S>F		No	ClinGen gnomAD
CA130080524 rs747867427	568	P>A		No	ClinGen TOPMed gnomAD
rs1382991679 CA361928143	569	A>P		No	ClinGen gnomAD
CA130080559 rs556724523	570	R>Q		No	ClinGen gnomAD
rs373380138 CA130080551	570	R>W		No	ClinGen ESP TOPMed gnomAD
CA361928203 rs1435475240	572	K>T		No	ClinGen gnomAD
rs777179327 CA3527176	574	S>P		No	ClinGen ExAC gnomAD
rs1248833298 CA361929297	575	E>K		No	ClinGen gnomAD
rs770238689 CA3527178	578	R>G		No	ClinGen ExAC TOPMed gnomAD
rs773585972 CA3527179	578	R>T		No	ClinGen ExAC gnomAD
CA361929370 rs1431194590	579	F>S		No	ClinGen gnomAD
CA130082501 rs1016563590	591	S>F		No	ClinGen TOPMed gnomAD
CA361929561 rs1016563590	591	S>Y		No	ClinGen TOPMed gnomAD
CA361929596 rs1462409805	593	Q>H		No	ClinGen gnomAD
CA361929606 rs1299853621	594	L>P		No	ClinGen gnomAD
CA3527183 rs561690425	595	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1296503985 CA361929637	597	K>Q		No	ClinGen TOPMed
CA3527184 rs760575517	599	Q>K		No	ClinGen ExAC gnomAD
CA3527186 rs150837134	606	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361929786 rs1307611973	607	F>L		No	ClinGen gnomAD
rs753733148 CA3527187	608	L>V		No	ClinGen ExAC gnomAD
rs373845474 CA361929840	610	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370626516 CA361929847	611	E>K		No	ClinGen TOPMed
CA361929878 rs1457733467	613	M>L		No	ClinGen gnomAD
rs750110341 CA3527190	616	M>I		No	ClinGen ExAC gnomAD
CA361929944 rs1328603358	617	D>N		No	ClinGen TOPMed gnomAD
CA130082632 rs958413075	619	R>W		No	ClinGen gnomAD
rs1181560313 CA361930013	622	T>S		No	ClinGen gnomAD
CA361930041 rs1190995250	624	T>A		No	ClinGen TOPMed
CA361930047 rs1489013960	624	T>I		No	ClinGen TOPMed
CA361930058 rs1263242676	625	A>V		No	ClinGen TOPMed
CA130082651 rs916809978	627	S>P		No	ClinGen Ensembl
rs1209240843 CA361930112	628	D>E		No	ClinGen TOPMed
rs758055837 CA3527191	628	D>V		No	ClinGen ExAC gnomAD
CA3527192 rs139405931	631	S>C		No	ClinGen ESP ExAC
rs1168469748 CA361930167	632	D>H		No	ClinGen gnomAD
rs746498155 CA3527193	633	Y>D		No	ClinGen ExAC gnomAD
CA361930215 rs1337135341	638	R>G		No	ClinGen TOPMed gnomAD
CA361930251 CA361930250 rs1449975494	642	K>N		No	ClinGen gnomAD
CA361930306 rs1215771802	651	H>Y		No	ClinGen gnomAD
CA3527197 rs770291550	653	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3527198 rs773704527	654	R>C		No	ClinGen ExAC gnomAD
CA3527199 rs749527076	654	R>H		No	ClinGen ExAC
CA130082761 rs918565873	655	R>Q		No	ClinGen TOPMed
CA3527203 rs367732054	658	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs774332403 CA3527202	658	G>R		No	ClinGen ExAC gnomAD
CA3527204 rs367732054	658	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3527210 rs374855803	660	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3527209 rs765076218	660	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3527207 rs765076218	660	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3527208 rs765076218	660	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA361930365 rs1423795935	661	R>C		No	ClinGen TOPMed
rs979773672 CA130082902	661	R>H		No	ClinGen TOPMed
CA361930370 rs1405441944	662	T>A		No	ClinGen TOPMed
CA361930368 rs1405441944	662	T>P		No	ClinGen TOPMed
rs780785993 CA3527213	668	R>C		No	ClinGen ExAC gnomAD
rs1457189392 CA361930410	668	R>H		No	ClinGen TOPMed
rs1200830303 CA361930439	672	S>N		No	ClinGen TOPMed
rs1429307304 CA361930446	673	A>T		No	ClinGen gnomAD
CA361930467 rs1231201701	676	A>G		No	ClinGen TOPMed
CA3527217 rs749629605	679	I>V		No	ClinGen ExAC gnomAD
rs369405951 CA3527221	699	Y>H		No	ClinGen ESP ExAC gnomAD
CA3527222 rs775535041	700	S>F		No	ClinGen ExAC gnomAD
rs761788169 CA3527223	701	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA361931067 rs1340033478	705	E>V		No	ClinGen TOPMed
rs984367926 CA130083823	709	F>Y		No	ClinGen Ensembl
rs764558714 CA130083829	712	V>L		No	ClinGen gnomAD
CA361931223 rs780148786	713	N>I		No	ClinGen ExAC TOPMed gnomAD
CA3527241 rs780148786	713	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1233210446 CA361931233	714	M>V		No	ClinGen gnomAD
CA130083849 rs780943760	717	R>Q		No	ClinGen TOPMed
rs1471065366 CA361931285	717	R>W		No	ClinGen gnomAD
CA3527242 rs747123662	718	E>K		No	ClinGen ExAC gnomAD
rs964044612 CA361931382	722	T>I		No	ClinGen TOPMed
rs964044612 CA130083872	722	T>K		No	ClinGen TOPMed
rs1351634557 CA361931400	723	L>R		No	ClinGen gnomAD
rs1561626178 CA361931423	725	P>S		No	ClinGen Ensembl
rs773218555 CA3527245	727	P>H		No	ClinGen ExAC gnomAD
CA361931477 rs773218555	727	P>L		No	ClinGen ExAC gnomAD
rs1388035094 CA361931466	727	P>T		No	ClinGen gnomAD
CA361931489 rs1330205207	728	P>R		No	ClinGen gnomAD
CA361931484 rs1582465723	728	P>S		No	ClinGen Ensembl
CA130083897 rs867130118	731	P>S		No	ClinGen Ensembl
rs767245420 CA3527250	741	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3527249 rs759307383	741	R>W		No	ClinGen ExAC gnomAD
CA361931869 rs1190885920	744	Q>R		No	ClinGen TOPMed
CA3527270 rs372761332	747	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3527272 rs760177062	752	N>D		No	ClinGen ExAC gnomAD
rs763725514 CA3527273	752	N>S		No	ClinGen ExAC gnomAD
rs775991655 CA3527274	756	G>V		No	ClinGen ExAC gnomAD
CA3527275 rs762423585	757	A>T		No	ClinGen ExAC gnomAD
CA3527276 rs774765501	758	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3527277 rs750882335	759	E>*		No	ClinGen ExAC gnomAD
CA130084104 rs947742278	760	P>L		No	ClinGen Ensembl
CA3527278 rs758777370	761	S>F		No	ClinGen ExAC TOPMed gnomAD
rs758777370 CA3527279	761	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs755146527 CA3527281	762	T>S		No	ClinGen ExAC TOPMed gnomAD
CA3527284 rs377227411	764	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361932446 rs1383049350	764	A>V		No	ClinGen gnomAD
rs779013893 CA3527285	765	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1595135 CA3527286 rs369524030	765	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs373756763 CA3527287	769	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs746733042 CA3527289	769	T>S		No	ClinGen ExAC gnomAD
rs373756763 CA3527288	769	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs768162789 CA3527290	770	T>A		No	ClinGen ExAC gnomAD
rs1343833696 CA361932591	772	P>S		No	ClinGen gnomAD
rs761253450 CA3527292	776	N>K		No	ClinGen ExAC gnomAD
rs769237181 CA3527293	778	R>C		No	ClinGen ExAC TOPMed gnomAD
CA130084227 rs926314441	778	R>H		No	ClinGen TOPMed gnomAD
rs926314441 CA361933037	778	R>P		No	ClinGen TOPMed gnomAD
CA130084233 rs1003319223	779	N>D		No	ClinGen Ensembl
CA3527294 rs773716145	780	T>S		No	ClinGen ExAC TOPMed gnomAD
CA361933119 rs1481715193	782	T>I		No	ClinGen gnomAD
CA130084260 rs569519893	783	P>S		No	ClinGen 1000Genomes
CA130084261 rs750557144	784	R>C		No	ClinGen TOPMed gnomAD
rs766791311 CA3527296	784	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3527297 rs751851465	785	T>A		No	ClinGen ExAC gnomAD
CA3527298 rs376934372	785	T>S		No	ClinGen ESP ExAC gnomAD
rs767661377 CA3527299	786	P>S		No	ClinGen ExAC gnomAD
rs557052817 CA3527301	787	R>Q		No	ClinGen ExAC gnomAD
CA3527300 rs374542687	787	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs772382879 CA130084286	792	K>R		No	ClinGen gnomAD
CA361933355 rs1298915250	793	D>G		No	ClinGen gnomAD
CA361933379 rs1330339223	794	S>L		No	ClinGen gnomAD
rs750450784 CA3527303	795	S>N		No	ClinGen ExAC gnomAD
rs370196742 CA3527306	804	V>M		No	ClinGen ESP ExAC gnomAD
CA3527307 rs373934264	807	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs867735671 CA130084343	807	G>V		No	ClinGen Ensembl
CA3527309 rs148202685	808	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3527308 rs780723207	808	R>W		No	ClinGen ExAC TOPMed gnomAD
rs996796060 CA130084384	812	A>G		No	ClinGen Ensembl
rs1186311651 CA361933880	815	P>L		No	ClinGen TOPMed gnomAD
rs1333117588 COSM1696634 CA361933886	816	R>*	NS skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs755744701 CA3527327	816	R>L		No	ClinGen ExAC gnomAD
CA130084701 rs74738336	817	K>*		No	ClinGen Ensembl
CA361933960 rs1329640749	821	R>G		No	ClinGen TOPMed
CA361933990 rs1413914674	823	S>G		No	ClinGen TOPMed
CA361934015 rs1380929989	824	S>L		No	ClinGen gnomAD
rs1393839945 CA361934020	825	N>D		No	ClinGen TOPMed
CA3527333 rs772385881	838	S>F		No	ClinGen ExAC TOPMed gnomAD
rs573986534 CA3527334 COSM1595134	839	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3527335 rs761027395	839	R>H		No	ClinGen ExAC gnomAD
CA3527336 rs764380839	842	R>K		No	ClinGen ExAC gnomAD
CA3527338 rs761996301	844	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3527339 rs184912149	844	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA130084774 rs184912149	844	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3527377 rs781678014	850	S>F		No	ClinGen ExAC gnomAD
rs748427118 CA3527378	852	P>S		No	ClinGen ExAC gnomAD
CA3527381 rs763112496	856	T>M		No	ClinGen ExAC TOPMed gnomAD
rs763112496 CA361935342	856	T>R		No	ClinGen ExAC TOPMed gnomAD
CA130086385 rs1034540637	857	P>H		No	ClinGen Ensembl
CA3527382 rs770862739	858	T>A		No	ClinGen ExAC gnomAD
rs1438749968 CA361935363	858	T>I		No	ClinGen TOPMed
CA3527383 rs775414362	860	G>S		No	ClinGen ExAC gnomAD
rs1258445743 CA361935392	861	S>N		No	ClinGen gnomAD
CA361935398 rs1319679645	861	S>R		No	ClinGen gnomAD
rs143640533 CA3527384	862	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs143640533 CA361935409	862	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs753609554 CA3527386	864	C>R		No	ClinGen ExAC gnomAD
CA3527388 rs764973501	871	K>R		No	ClinGen ExAC gnomAD
rs1372876766 CA361935539	873	Q>E		No	ClinGen TOPMed
CA361935548 rs1426436427	873	Q>H		No	ClinGen gnomAD
CA3527390 rs757929142	881	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA130086447 rs773515790	883	N>K		No	ClinGen TOPMed gnomAD
rs1189073566 CA361935689	884	G>A		No	ClinGen TOPMed
CA3527391 rs779704485	885	F>L		No	ClinGen ExAC gnomAD
rs371874053 CA3527393	889	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1278721662 CA361935767	891	H>Y		No	ClinGen gnomAD
rs375242758 CA3527394	894	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs757450704 CA3527416 COSM1186886	901	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3527417 rs779006161	903	R>C		No	ClinGen ExAC gnomAD
rs188624698 CA3527418	905	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA130088573 rs188624698	905	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA130088579 rs910868072	906	I>T		No	ClinGen TOPMed
rs1288169811 CA361937109	906	I>V		No	ClinGen TOPMed gnomAD
CA130088585 rs866714820	910	Q>*		No	ClinGen Ensembl
CA361937350 rs776635107	919	W>*		No	ClinGen ExAC gnomAD
CA3527420 rs776635107	919	W>C		No	ClinGen ExAC gnomAD
CA3527421 rs748030021	926	H>R		No	ClinGen ExAC gnomAD
CA361937499 rs1582483254	928	N>H		No	ClinGen Ensembl
CA3527423 rs769687124	929	K>E		No	ClinGen ExAC gnomAD
CA3527424 rs772858931	929	K>R		No	ClinGen ExAC TOPMed gnomAD
rs762703978 CA3527425	931	M>I		No	ClinGen ExAC gnomAD
rs1561633936 CA361937568	931	M>T		No	ClinGen Ensembl
CA3527426 rs192241783	932	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA130088610 rs192241783	932	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1420938618 CA361937683	936	K>R		No	ClinGen TOPMed
CA3527428 rs759126425	940	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3527448 rs761285932	949	Y>C		No	ClinGen ExAC gnomAD
CA361938582 rs1328530291	951	L>S		No	ClinGen TOPMed
rs780858440 CA130090472	957	Y>H		No	ClinGen Ensembl
rs1352389082 CA361938681	958	Y>C		No	ClinGen gnomAD
rs1302890967 CA361938704	959	S>I		No	ClinGen gnomAD
rs868765355 CA130090483	967	R>W		No	ClinGen Ensembl
rs1346772093 CA361938872	968	L>P		No	ClinGen gnomAD
CA361938897 rs1426418886	970	I>V		No	ClinGen TOPMed
rs1341683724 CA361938965	972	K>R		No	ClinGen gnomAD
rs745692171 CA130090492	975	Q>R		No	ClinGen Ensembl
CA3527454 rs758595303 COSM1595132	978	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1405012398 CA361939224	982	Y>C		No	ClinGen gnomAD
rs548560350 CA3527455	982	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs751620020 CA361939267	984	A>D		No	ClinGen ExAC gnomAD
rs751620020 CA3527456	984	A>G		No	ClinGen ExAC gnomAD
rs755013648 CA3527475	990	L>P		No	ClinGen ExAC gnomAD
CA361939890 rs778895136	1001	K>E		No	ClinGen ExAC gnomAD
rs745690943 CA3527480	1001	K>N		No	ClinGen ExAC TOPMed gnomAD
CA3527479 rs778895136	1001	K>Q		No	ClinGen ExAC gnomAD
CA361939998 rs1295716070	1005	L>V		No	ClinGen gnomAD
rs1369047946 CA361940007	1005	L>W		No	ClinGen TOPMed gnomAD
rs771852927 CA3527481	1006	D>G		No	ClinGen ExAC gnomAD
CA3527483 rs746606377	1007	I>T		No	ClinGen ExAC gnomAD
rs768107777 CA3527484	1008	D>E		No	ClinGen ExAC TOPMed gnomAD
CA361940157 rs1281986865	1013	E>D		No	ClinGen gnomAD
CA361940231 rs1248307937	1016	G>D		No	ClinGen gnomAD
CA3527486 rs371061032	1016	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1421056333 CA361940243	1017	K>E		No	ClinGen TOPMed gnomAD
CA361940298 rs1466832777	1018	F>C		No	ClinGen TOPMed gnomAD
COSM1143731 CA3527487 rs770314875	1019	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs773657177 CA3527488	1020	R>C		No	ClinGen ExAC gnomAD
CA3527489 rs763238227	1020	R>H		No	ClinGen ExAC TOPMed gnomAD
CA130090722 rs1035030424	1022	E>Q		No	ClinGen TOPMed
rs200806332 CA3527490	1025	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1295350431 CA361941513	1030	M>L		No	ClinGen TOPMed
rs774760161 CA3527510	1031	G>S		No	ClinGen ExAC gnomAD
rs1341192901 CA361941616	1033	E>K		No	ClinGen gnomAD
CA361941659 rs1306826141	1034	G>V		No	ClinGen TOPMed gnomAD
CA130097792 rs971797710	1038	R>Q		No	ClinGen gnomAD
rs201041004 CA361941802	1039	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201041004 CA3527514	1039	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775808635 CA3527513	1039	H>Y		No	ClinGen ExAC gnomAD
rs1278679172 CA361941822	1040	S>P		No	ClinGen gnomAD
CA3527517 rs750394519	1041	V>M		No	ClinGen ExAC gnomAD
CA361941915 rs1271880031	1044	G>R		No	ClinGen gnomAD
rs113898280 CA130097807	1045	G>V		No	ClinGen TOPMed
COSM3410031 rs372005840 CA3527520	1047	G>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3527521 rs529943708	1048	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1426282212 CA361942021	1049	E>A		No	ClinGen gnomAD
CA130097838 rs904244494	1052	K>R		No	ClinGen TOPMed
rs1167502846 CA361942094	1053	R>Q		No	ClinGen TOPMed gnomAD
CA3527522 rs199613434	1053	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1582502659 CA361942101	1054	C>G		No	ClinGen Ensembl
rs1582502690 CA361942110	1054	C>W		No	ClinGen Ensembl
CA361942104 rs1339571544	1054	C>Y		No	ClinGen TOPMed gnomAD
rs755683321 CA3527525	1055	P>R		No	ClinGen ExAC gnomAD
rs747730302 CA3527524	1055	P>S		No	ClinGen ExAC gnomAD
CA361942229 rs1197198346	1062	P>S		No	ClinGen TOPMed
CA130097862 rs943367823	1065	M>K		No	ClinGen Ensembl
rs1242313959 CA361942284	1065	M>V		No	ClinGen gnomAD
CA361942319 rs1269160731	1066	I>F		No	ClinGen gnomAD
rs1293724929 CA361942331	1066	I>M		No	ClinGen gnomAD
CA361942342 rs1345301601	1067	S>R		No	ClinGen TOPMed gnomAD
CA3527527 rs749811367	1068	Q>H		No	ClinGen ExAC gnomAD
CA361942415 rs1360017238	1070	P>L		No	ClinGen TOPMed gnomAD
rs1360017238 CA361942413	1070	P>R		No	ClinGen TOPMed gnomAD
CA3527528 rs148515883	1072	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141988879 CA3527530	1073	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3527529 rs141988879	1073	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA130097890 rs963317479	1074	T>P		No	ClinGen Ensembl
CA130097904 rs923281541	1075	G>D		No	ClinGen TOPMed
CA3527532 rs775859609	1075	G>S		No	ClinGen ExAC TOPMed gnomAD
CA361942536 rs986065219	1076	Q>H		No	ClinGen TOPMed gnomAD
rs760976936 CA3527533	1078	V>F		No	ClinGen ExAC TOPMed gnomAD
rs760976936 CA361942557	1078	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3527535 rs776739974	1079	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201846456 CA3527534	1079	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1171841583 CA361942649	1081	D>G		No	ClinGen TOPMed gnomAD
rs761756581 CA3527536	1083	K>R		No	ClinGen ExAC TOPMed gnomAD
CA361942692 rs761756581	1083	K>T		No	ClinGen ExAC TOPMed gnomAD
CA3527538 rs376870589	1084	W>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376870589 CA3527537	1084	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3527539 rs759327200	1085	T>K		No	ClinGen ExAC gnomAD
CA130097932 rs201180379	1086	S>R		No	ClinGen 1000Genomes gnomAD
rs752402471 CA3527541	1088	H>R		No	ClinGen ExAC gnomAD
rs569122294 CA3527542	1089	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569122294 CA361942937	1089	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753422002 CA3527544	1093	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1472049474 CA361943071	1093	T>P		No	ClinGen TOPMed
rs1240274891 CA361943140	1095	G>A		No	ClinGen gnomAD
CA361943154 rs1349178924	1096	K>E		No	ClinGen gnomAD

No associated diseases with Q6PKG0

4 regional properties for Q6PKG0

Type	Name	Position	InterPro Accession
repeat	LARP1-like, DM15 repeat	884 - 925	IPR006607-1
repeat	LARP1-like, DM15 repeat	926 - 964	IPR006607-2
repeat	LARP1-like, DM15 repeat	965 - 1000	IPR006607-3
domain	La-type HTH domain	397 - 487	IPR006630

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasmic granule	Colocalizes with RPTOR and PABPC1 in cytoplasmic granules that resemble stress granules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic stress granule	A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

10 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
eukaryotic initiation factor 4E binding	Binding to eukaryotic initiation factor 4E, a polypeptide factor involved in the initiation of ribosome-mediated translation.
mRNA 3'-UTR binding	Binding to a 3' untranslated region of an mRNA molecule.
mRNA 5'-UTR binding	Binding to an mRNA molecule at its 5' untranslated region.
ribosomal small subunit binding	Binding to a small ribosomal subunit.
RNA 7-methylguanosine cap binding	Binding to a 7-methylguanosine group added cotranscriptionally to the 5' end of RNA molecules transcribed by polymerase II.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA cap binding	Binding to a 7-methylguanosine (m7G) group or derivative located at the 5' end of an RNA molecule.
translation activator activity	Any of a group of soluble proteins functioning in the activation of ribosome-mediated translation of mRNA into a polypeptide.
translation initiation factor binding	Binding to a translation initiation factor, any polypeptide factor involved in the initiation of ribosome-mediated translation.

14 GO annotations of biological process

Name	Definition
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cellular response to rapamycin	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 rapamycin stimulus.
mRNA stabilization	Prevention of degradation of mRNA molecules. In the absence of compensating changes in other processes, the slowing of mRNA degradation can result in an overall increase in the population of active mRNA molecules.
negative regulation of translation	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
negative regulation of translational initiation	Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation.
positive regulation of macroautophagy	Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
positive regulation of translational initiation	Any process that activates or increases the frequency, rate or extent of translational initiation.
positive regulation of viral genome replication	Any process that activates or increases the frequency, rate or extent of viral genome replication.
post-transcriptional regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript.
response to amino acid starvation	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of amino acids.
TOR signaling	The series of molecular signals mediated by TOR (Target of rapamycin) proteins, members of the phosphoinositide (PI) 3-kinase related kinase (PIKK) family that act as serine/threonine kinases in response to nutrient availability or growth factors.
TORC1 signaling	A series of intracellular molecular signals mediated by TORC1; TOR (target of rapamycin) in complex with at least Raptor (regulatory-associated protein of TOR), or orthologs of, and other signaling components.
translational initiation	The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q4G0J3	LARP7	La-related protein 7	Homo sapiens (Human)	PR
P05455	SSB	Lupus La protein	Homo sapiens (Human)	PR
Q71RC2	LARP4	La-related protein 4	Homo sapiens (Human)	PR
Q659C4	LARP1B	La-related protein 1B	Homo sapiens (Human)	PR
Q6ZQ58	Larp1	La-related protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MATQVEPLLP	GGATLLQAEE	HGGLVRKKPP	PAPEGKGEPG	PNDVRGGEPD	GSARRPRPPC
70	80	90	100	110	120
AKPHKEGTGQ	QERESPRPLQ	LPGAEGPAIS	DGEEGGGEPG	AGGGAAGAAG	AGRRDFVEAP
130	140	150	160	170	180
PPKVNPWTKN	ALPPVLTTVN	GQSPPEHSAP	AKVVRAAVPK	QRKGSKVGDF	GDAINWPTPG
190	200	210	220	230	240
EIAHKSVQPQ	SHKPQPTRKL	PPKKDMKEQE	KGEGSDSKES	PKTKSDESGE	EKNGDEDCQR
250	260	270	280	290	300
GGQKKKGNKH	KWVPLQIDMK	PEVPREKLAS	RPTRPPEPRH	IPANRGEIKG	SESATYVPVA
310	320	330	340	350	360
PPTPAWQPEI	KPEPAWHDQD	ETSSVKSDGA	GGARASFRGR	GRGRGRGRGR	GRGGTRTHFD
370	380	390	400	410	420
YQFGYRKFDG	VEGPRTPKYM	NNITYYFDNV	SSTELYSVDQ	ELLKDYIKRQ	IEYYFSVDNL
430	440	450	460	470	480
ERDFFLRRKM	DADGFLPITL	IASFHRVQAL	TTDISLIFAA	LKDSKVVEIV	DEKVRRREEP
490	500	510	520	530	540
EKWPLPPIVD	YSQTDFSQLL	NCPEFVPRQH	YQKETESAPG	SPRAVTPVPT	KTEEVSNLKT
550	560	570	580	590	600
LPKGLSASLP	DLDSENWIEV	KKRPRPSPAR	PKKSEESRFS	HLTSLPQQLP	SQQLMSKDQD
610	620	630	640	650	660
EQEELDFLFD	EEMEQMDGRK	NTFTAWSDEE	SDYEIDDRDV	NKILIVTQTP	HYMRRHPGGD
670	680	690	700	710	720
RTGNHTSRAK	MSAELAKVIN	DGLFYYEQDL	WAEKFEPEYS	QIKQEVENFK	KVNMISREQF
730	740	750	760	770	780
DTLTPEPPVD	PNQEVPPGPP	RFQQVPTDAL	ANKLFGAPEP	STIARSLPTT	VPESPNYRNT
790	800	810	820	830	840
RTPRTPRTPQ	LKDSSQTSRF	YPVVKEGRTL	DAKMPRKRKT	RHSSNPPLES	HVGWVMDSRE
850	860	870	880	890	900
HRPRTASISS	SPSEGTPTVG	SYGCTPQSLP	KFQHPSHELL	KENGFTQHVY	HKYRRRCLNE
910	920	930	940	950	960
RKRLGIGQSQ	EMNTLFRFWS	FFLRDHFNKK	MYEEFKQLAL	EDAKEGYRYG	LECLFRYYSY
970	980	990	1000	1010	1020
GLEKKFRLDI	FKDFQEETVK	DYEAGQLYGL	EKFWAFLKYS	KAKNLDIDPK	LQEYLGKFRR
1030	1040	1050	1060	1070	1080
LEDFRVDPPM	GEEGNHKRHS	VVAGGGGGEG	RKRCPSQSSS	RPAAMISQPP	TPPTGQPVRE
1090
DAKWTSQHSN	TQTLGK