AiPD: Autoinhibited Protein Database

Q9NSK0

Gene name	KLC4 (KNSL8)
Protein name	Kinesin light chain 4
Names	KLC 4 , Kinesin-like protein 8
Species	Homo sapiens (Human)
KEGG Pathway	hsa:89953
EC number
Protein Class

Descriptions

The Kinesin-1 light chains (KLCs) exhibit autoinhibition through an intramolecular interaction between the TPR domain and a highly conserved peptide motif within an unstructured region, occluding a key cargo binding site. Cargo binding displaces this interaction, leading to a global conformational change in the KLCs, resulting in a more extended conformation which is essential for the regulation of the motor activity.

Autoinhibitory domains (AIDs)

149-209 (the flexible linker region) SS

Target domain	210-497 (Cargo binding site on the TPR domain)
Relief mechanism	Partner binding
Assay

AID

149-209 (the flexible linker region)

Target domain

210-497 (Cargo binding site on the TPR domain)

Relief mechanism

Partner binding (W-acidic cargo binding)

Assay

Accessory elements

No accessory elements

References

Yip YY et al. (2016) "The light chains of kinesin-1 are autoinhibited", Proceedings of the National Academy of Sciences of the United States of America, 113, 2418-23

Autoinhibited structure

Activated structure

1 structures for Q9NSK0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NSK0-F1	Predicted				AlphaFoldDB

639 variants for Q9NSK0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1199857479	2	S>L		No	TOPMed gnomAD
rs762865049	4	L>P		No	ExAC TOPMed gnomAD
rs764085350	5	V>L		No	ExAC TOPMed gnomAD
rs764085350	5	V>M		No	ExAC TOPMed gnomAD
rs140510055	9	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs140510055	9	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201506218 COSM268415	9	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs755867221	12	P>H		No	ExAC TOPMed gnomAD
rs1039864041	13	A>G		No	TOPMed gnomAD
rs1039864041	13	A>V		No	TOPMed gnomAD
TCGA novel	14	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs113299602	15	H>Y		No	Ensembl
rs779684039	16	R>G		No	ExAC TOPMed gnomAD
rs369814395	16	R>Q		No	ESP ExAC TOPMed gnomAD
rs779684039	16	R>W		No	ExAC TOPMed gnomAD
rs1376535917	19	Q>E		No	gnomAD
rs1219277414	20	E>G		No	gnomAD
rs772706000	20	E>K		No	ExAC TOPMed gnomAD
rs747281688	21	E>D		No	ExAC gnomAD
rs1210461897	22	I>M		No	gnomAD
rs1765149682	22	I>T		No	gnomAD
rs771350190	26	T>I		No	ExAC TOPMed gnomAD
TCGA novel	26	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs542571705	27	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA 1000Genomes ExAC TOPMed gnomAD
rs542571705	27	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs149718842	27	R>W		No	ESP ExAC TOPMed gnomAD
rs145783503	28	L>P		No	ESP ExAC TOPMed gnomAD
rs145783503	28	L>R		No	ESP ExAC TOPMed gnomAD
rs1581997816	29	V>G		No	Ensembl
rs1421462761	31	Q>*		No	gnomAD
rs775543149	32	G>R		No	ExAC TOPMed gnomAD
rs763960797	34	E>K		No	ExAC TOPMed gnomAD
rs1294732934	35	A>S		No	gnomAD
COSM3874203 COSM3874202 COSM3874204	35	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs148951611	36	L>Q		No	ESP ExAC TOPMed gnomAD
rs767309388	37	R>C		No	ExAC TOPMed gnomAD
rs767309388	37	R>G		No	ExAC TOPMed gnomAD
COSM1154675 COSM1079445 rs562531990	37	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs767309388	37	R>S		No	ExAC TOPMed gnomAD
rs1311957418	40	H>N		No	TOPMed gnomAD
rs1311957418	40	H>Y		No	TOPMed gnomAD
TCGA novel	41	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1209920391	41	Q>R		No	TOPMed gnomAD
rs1260742416	42	A>V		No	TOPMed gnomAD
rs753334821	43	V>M		No	ExAC TOPMed gnomAD
rs1481828935	48	S>C		No	gnomAD
rs955156038	48	S>P		No	TOPMed
COSM3627471 COSM3627470 COSM3627472	49	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1581998119	51	I>V		No	Ensembl
rs1424872897	52	E>D		No	gnomAD
rs1256105732	52	E>V		No	gnomAD
rs1164984951	55	Q>*		No	gnomAD
rs1428468278	57	G>E		No	gnomAD
rs781598260	57	G>R		No	ExAC gnomAD
rs1561910503	58	G>D		No	Ensembl
rs61743333	59	H>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1765157698	60	E>G		No	Ensembl
rs2150350120	60	E>Q		No	Ensembl
rs1445585435	61	E>K		No	gnomAD
rs1437222607	62	G>A		No	TOPMed
rs769935940	64	V>L		No	ExAC gnomAD
rs1465590473	65	H>Q		No	TOPMed
rs775700770	65	H>R		No	ExAC TOPMed gnomAD
rs749315902	66	E>D		No	ExAC TOPMed gnomAD
rs1765159385	66	E>K		No	Ensembl
rs1178509488	67	K>R		No	TOPMed gnomAD
rs1340139129	68	A>S		No	TOPMed gnomAD
rs768752379	68	A>V		No	ExAC gnomAD
rs267601042	69	R>G		No	TOPMed gnomAD
rs774330803	69	R>Q		No	ExAC gnomAD
COSM1444633 COSM1444632 rs267601042	69	R>W	large_intestine [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1765160672	70	Q>*		No	TOPMed gnomAD
rs767408242	70	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs761784590	70	Q>R		No	ExAC gnomAD
rs773059424	72	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs11558979 VAR_049708	72	R>H		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766075310	73	R>C		No	ExAC TOPMed gnomAD
rs754500194	73	R>H		No	ExAC TOPMed gnomAD
rs754500194	73	R>L		No	ExAC TOPMed gnomAD
rs766075310	73	R>S		No	ExAC TOPMed gnomAD
COSM5222691 COSM1487776 COSM451501	74	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs986812370	75	M>V		No	TOPMed gnomAD
rs1765162749	77	N>T		No	TOPMed
rs376752586	78	I>M		No	ESP ExAC TOPMed gnomAD
rs2150350206	78	I>T		No	Ensembl
rs764774937	78	I>V		No	ExAC gnomAD
rs138990023	79	E>V		No	ESP ExAC TOPMed gnomAD
rs746173312	81	G>R		No	ExAC TOPMed gnomAD
rs1230300186	82	L>V		No	TOPMed gnomAD
rs1434503510	83	S>N		No	gnomAD
rs1298382268	84	E>D		No	TOPMed gnomAD
rs1765164777	85	A>S		No	Ensembl
rs370896483	87	V>A		No	ESP TOPMed gnomAD
rs370896483	87	V>G		No	ESP TOPMed gnomAD
rs989777914	88	M>V		No	TOPMed
rs776555850	89	L>P		No	ExAC TOPMed gnomAD
COSM1444634 COSM5830474 COSM1444635	90	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1202580756	91	L>P		No	gnomAD
rs201982643	91	L>V		No	1000Genomes ExAC TOPMed gnomAD
rs150453267	96	S>G		No	ESP ExAC TOPMed gnomAD
COSM1596350 COSM1079446	96	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1342797868	97	T>I		No	TOPMed gnomAD
rs1218647017	98	V>A		No	gnomAD
TCGA novel	98	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs761154490	100	S>L		No	ExAC TOPMed gnomAD
rs1765235269	101	E>K		No	TOPMed
rs754138946	102	K>R		No	ExAC TOPMed gnomAD
rs367567702	103	Q>E		No	ESP ExAC TOPMed
rs1765235943	103	Q>H		No	TOPMed
rs1037038378	103	Q>R		No	Ensembl
rs1264786473	104	K>N		No	TOPMed gnomAD
rs779149521	104	K>Q		No	ExAC gnomAD
rs138546920	106	R>Q		No	ESP ExAC TOPMed gnomAD
rs61732280	106	R>W		No	ExAC TOPMed gnomAD
rs777980547	107	A>P		No	ExAC gnomAD
TCGA novel	107	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs777980547	107	A>T		No	ExAC gnomAD
rs1765237004	107	A>V		No	TOPMed
rs781291050	110	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs770988742	110	R>W		No	ExAC TOPMed gnomAD
rs1225485642	111	R>Q		No	gnomAD
rs745627196	111	R>W		No	ExAC TOPMed gnomAD
rs1273507857	112	L>I		No	gnomAD
rs1273507857	112	L>V		No	gnomAD
rs1765238429	114	Q>*		No	gnomAD
rs1582002307	116	N>T		No	Ensembl
rs1339623063	117	Q>R		No	TOPMed gnomAD
rs137917655	120	R>Q		No	ESP ExAC TOPMed gnomAD
rs370438438	120	R>W		No	ESP ExAC TOPMed gnomAD
rs890022886	122	E>V		No	TOPMed
rs1183799125	123	L>R		No	TOPMed
rs1188173525	123	L>V		No	TOPMed gnomAD
rs574652585	125	G>D		No	1000Genomes gnomAD
rs768353342	125	G>S		No	ExAC gnomAD
rs773843055	126	T>I		No	ExAC gnomAD
rs1582002426	126	T>P		No	Ensembl
rs1765240963	128	Q>R		No	TOPMed
rs1400508428	129	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM1444636 rs766293479 COSM5154349 COSM1444637	129	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs563190430	132	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs143372223 COSM3381601 COSM3381602 COSM3381603	132	R>H	pancreas [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs143372223	132	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1561912103	133	S>N		No	Ensembl
rs750038367	135	Q>*		No	Ensembl
rs1328814330	136	A>G		No	TOPMed gnomAD
rs765490839	136	A>S		No	ExAC gnomAD
rs1328814330	136	A>V		No	TOPMed gnomAD
rs1765244064	137	V>M		No	gnomAD
rs753156194	138	A>V		No	ExAC TOPMed gnomAD
rs758538013	140	L>M		No	ExAC TOPMed gnomAD
rs778208432	141	E>A		No	ExAC TOPMed gnomAD
rs778208432	141	E>G		No	ExAC TOPMed gnomAD
rs751622974	144	K>E		No	ExAC TOPMed gnomAD
rs757434765	145	K>R		No	ExAC TOPMed gnomAD
rs781236037	146	H>Q		No	ExAC TOPMed gnomAD
rs745759670	147	L>V		No	ExAC TOPMed gnomAD
rs756124328	148	E>*		No	ExAC TOPMed gnomAD
rs1206954450	148	E>G		No	gnomAD
rs919651921	150	L>M		No	gnomAD
TCGA novel	152	Q>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs779697205	152	Q>K		No	ExAC gnomAD
rs952533507	152	Q>R		No	Ensembl
rs182587062	154	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs182587062	154	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1596349 rs1477924474 COSM1079447	154	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs368397223	155	Q>*		No	ESP ExAC TOPMed gnomAD
rs747612483	156	Y>C		No	ExAC TOPMed gnomAD
rs1582002885	156	Y>D		No	Ensembl
TCGA novel	157	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1765248670	158	E>K		No	TOPMed
rs1582002908	159	D>G		No	Ensembl
rs772821318	160	G>A		No	ExAC gnomAD
rs1321197252	161	H>L		No	TOPMed gnomAD
rs1321197252	161	H>P		No	TOPMed gnomAD
rs943911887	162	T>A		No	Ensembl
rs372388180 COSM1444638 COSM1444639 COSM5106235	163	S>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1765383262	165	E>A		No	TOPMed
rs1765383455	165	E>D		No	Ensembl
rs1765383262	165	E>G		No	TOPMed
rs891598420	166	K>Q		No	TOPMed
rs546457829	167	E>D		No	1000Genomes gnomAD
rs533293952	167	E>G		No	1000Genomes gnomAD
rs762112521	168	G>D		No	ExAC TOPMed gnomAD
rs1765384094	168	G>S		No	TOPMed
rs750400553	169	D>N		No	ExAC TOPMed gnomAD
rs1165099700	171	T>N		No	gnomAD
rs1765384729	171	T>S		No	Ensembl
rs147231623	172	K>R		No	ESP ExAC TOPMed gnomAD
rs1765385166	173	D>Y		No	Ensembl
rs766174271	175	L>V		No	ExAC TOPMed
rs1765385880	176	D>H		No	TOPMed
rs753808766	176	D>V		No	ExAC gnomAD
rs1765386574	177	D>E		No	TOPMed gnomAD
rs752547687	177	D>G		No	ExAC gnomAD
rs377607028	177	D>N		No	ESP ExAC TOPMed gnomAD
rs1382146612	178	L>R		No	gnomAD
rs1457917258	180	P>S		No	TOPMed
rs758043910	181	N>H		No	ExAC gnomAD
rs1765387123	181	N>S		No	TOPMed
rs1765387262	183	E>G		No	TOPMed
rs1765387393	184	E>K		No	TOPMed
RCV001814764 rs1033630760	185	E>*		No	ClinVar TOPMed dbSNP
rs1245512602	185	E>A		No	gnomAD
rs1294265615	187	P>L		No	gnomAD
rs1765388030	188	S>N		No	TOPMed
rs369219220	189	N>K		No	ESP ExAC TOPMed gnomAD
rs777485770	189	N>S		No	ExAC gnomAD
rs2150354032	191	L>*		No	Ensembl
rs780740027	192	S>F		No	ExAC TOPMed gnomAD
rs1391658496	192	S>P		No	TOPMed
rs374705550	193	R>C		No	ESP ExAC TOPMed gnomAD
rs374705550	193	R>G		No	ESP ExAC TOPMed gnomAD
COSM1754817 COSM254768 rs148687735 COSM1754818	193	R>H	urinary_tract [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
COSM3830569 COSM3830570 COSM3830568	194	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1765423464	195	Q>*		No	Ensembl
TCGA novel	197	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779572712	198	T>I		No	ExAC TOPMed gnomAD
rs1289689803	198	T>P		No	gnomAD
rs748471996	200	A>P		No	ExAC TOPMed gnomAD
rs917992543	200	A>V		No	TOPMed gnomAD
rs772514547	201	Q>*		No	ExAC TOPMed gnomAD
rs773492521	202	Q>*		No	ExAC TOPMed
rs773492521	202	Q>K		No	ExAC TOPMed
rs779336865	203	G>A		No	TOPMed gnomAD
rs779336865	203	G>D		No	TOPMed gnomAD
rs1023098785	203	G>S		No	TOPMed gnomAD
rs779336865	203	G>V		No	TOPMed gnomAD
rs1765426300	204	G>R		No	TOPMed
COSM3874206 rs760931254 COSM3874207 COSM3874205	205	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1215836452	206	E>A		No	gnomAD
rs1582010319	207	I>S		No	Ensembl
rs1487290805	208	P>S		No	gnomAD
rs1269324502	210	R>G		No	TOPMed gnomAD
rs530185395	212	R>Q		No	TOPMed gnomAD
rs776689286 COSM3874210 COSM3874209 COSM3874208	212	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1016317542	213	T>M		No	gnomAD
rs370945199	216	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs886699742	218	V>E		No	TOPMed
rs752655893	218	V>L		No	ExAC gnomAD
rs763926403	222	A>T		No	ExAC TOPMed gnomAD
rs112606444	222	A>V		No	Ensembl
rs1765431392	224	Q>R		No	TOPMed gnomAD
COSM1697251 COSM1697250 rs756928667 COSM1697249	226	R>C	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs368222422	226	R>H		No	ESP ExAC TOPMed gnomAD
rs368222422	226	R>L		No	ESP ExAC TOPMed gnomAD
rs1350557446	227	Y>H		No	gnomAD
rs1223906646	228	E>A		No	gnomAD
rs1221280806	231	V>A		No	gnomAD
rs779519749	231	V>M		No	ExAC TOPMed gnomAD
rs1160303543	232	P>T		No	TOPMed gnomAD
rs890206297	233	L>F		No	TOPMed
rs904629130	236	Q>*		No	TOPMed gnomAD
rs564523975	238	L>I		No	1000Genomes
rs748660660	239	E>G		No	ExAC TOPMed gnomAD
rs777889139	243	R>C		No	TOPMed gnomAD
COSM1079449 COSM1596347 rs1470458706	243	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1410260155	244	T>P		No	gnomAD
TCGA novel	245	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs371636519	246	G>D		No	ESP TOPMed gnomAD
rs758881010	246	G>S		No	ExAC gnomAD
rs150765185	247	R>C		No	ESP ExAC TOPMed gnomAD
rs139131045	247	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1251702429	249	H>R		No	gnomAD
rs373940349	250	P>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1561914954	250	P>L		No	Ensembl
rs1561914954	250	P>R		No	Ensembl
rs373940349	250	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1281713664	253	A>T		No	TOPMed gnomAD
rs371758682	253	A>V		No	ESP ExAC TOPMed gnomAD
rs1244536788	255	M>T		No	TOPMed gnomAD
rs1765439585	255	M>V		No	TOPMed
rs144314636	256	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1765440500	258	I>M		No	TOPMed
rs1202821946	258	I>V		No	gnomAD
rs769752349	259	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1272018922	260	A>V		No	TOPMed gnomAD
rs762933082	261	L>F		No	ExAC gnomAD
rs749091285	262	V>A		No	Ensembl
rs370090489	262	V>L		No	ESP ExAC gnomAD
rs370090489	262	V>M		No	ESP ExAC gnomAD
rs146565772	264	R>C		No	ESP ExAC TOPMed gnomAD
rs767225286	264	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1765466492	266	Q>L		No	gnomAD
rs1326624582	267	N>D		No	gnomAD
rs1765466744	267	N>S		No	Ensembl
COSM1079450 COSM1596346	269	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs267601044	271	E>K		No	Ensembl
rs1407286669	272	A>G		No	TOPMed
rs1411461414	272	A>S		No	gnomAD
rs1765467912	273	A>G		No	TOPMed
rs141222869	273	A>S		No	ESP TOPMed gnomAD
rs141222869	273	A>T		No	ESP TOPMed gnomAD
rs1765467912	273	A>V		No	TOPMed
rs1765468411	277	N>S		No	gnomAD
rs1765468566	278	D>G		No	Ensembl
rs1362008143	279	A>V		No	TOPMed gnomAD
rs1308353093	281	S>G		No	gnomAD
rs1765469023	282	I>M		No	TOPMed gnomAD
rs954346273	283	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs369071714	283	R>W		No	ESP ExAC gnomAD
COSM288282 rs753325985	284	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs143587178	285	S>R		No	ESP ExAC TOPMed gnomAD
rs1244245142	286	T>S		No	TOPMed gnomAD
rs1765470234	287	L>S		No	TOPMed
rs1358628186	288	G>E		No	gnomAD
rs752039826	288	G>R		No	ExAC gnomAD
rs1447775480	290	D>G		No	TOPMed gnomAD
rs757802877	291	H>L		No	ExAC gnomAD
rs2150354692	292	P>L		No	Ensembl
rs890604093	292	P>T		No	Ensembl
rs1765471303	293	A>T		No	TOPMed
rs1582020713	295	A>P		No	Ensembl
rs1398503060	295	A>V		No	gnomAD
rs767962990 COSM1079452	296	A>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	297	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs773734958	300	N>H		No	ExAC gnomAD
rs1382389742	300	N>S		No	gnomAD
rs1765655754	301	L>W		No	TOPMed
rs1315034176	302	A>S		No	TOPMed gnomAD
rs1315034176	302	A>T		No	TOPMed gnomAD
rs1227104134	305	Y>C		No	TOPMed gnomAD
rs1227104134	305	Y>S		No	TOPMed gnomAD
rs1252451209	307	K>R		No	gnomAD
COSM1724559 COSM1724558	308	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1340668769	310	K>R		No	TOPMed gnomAD
rs1582020894	312	K>R		No	Ensembl
rs754284567	313	E>V		No	ExAC gnomAD
rs1201294768	314	A>T		No	gnomAD
rs1241985264	314	A>V		No	TOPMed gnomAD
rs755152905	316	P>L		No	ExAC TOPMed gnomAD
rs1445299844	318	C>G		No	Ensembl
rs770616754	320	R>Q		No	ExAC TOPMed gnomAD
rs765504507 COSM3874211 COSM3874212	320	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1561918658	321	A>S		No	Ensembl
rs966767431	321	A>V		No	TOPMed gnomAD
rs976948846	322	L>M		No	TOPMed gnomAD
rs1471371554	324	I>S		No	TOPMed
rs1471371554	324	I>T		No	TOPMed
rs149003235	324	I>V		No	ESP ExAC TOPMed gnomAD
rs746914286	325	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1304846100	325	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1765659785	326	E>A		No	gnomAD
rs1360101106	326	E>D		No	gnomAD
rs757270334	327	K>E		No	ExAC TOPMed gnomAD
rs2150357411	327	K>N		No	Ensembl
rs1362657139	328	V>F		No	TOPMed gnomAD
rs1362657139	328	V>I		No	TOPMed gnomAD
rs1765674326	330	G>A		No	Ensembl
rs143779538	331	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs748912669	332	N>H		No	ExAC gnomAD
rs768351597	333	H>Y		No	ExAC gnomAD
rs778387146	334	P>A		No	ExAC TOPMed gnomAD
TCGA novel	334	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs747701209	336	V>A		No	ExAC gnomAD
TCGA novel	343	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771288012	343	L>V		No	ExAC gnomAD
rs777220869	344	A>D		No	ExAC TOPMed gnomAD
rs777220869	344	A>V		No	ExAC TOPMed gnomAD
rs1765675925	348	Q>H		No	TOPMed
rs1453049705	349	N>H		No	gnomAD
rs1765676146	349	N>S		No	gnomAD
TCGA novel	350	Q>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1469720977	353	Y>C		No	gnomAD
rs1765676750	355	A>T		No	Ensembl
rs770335884	356	V>M		No	ExAC TOPMed gnomAD
COSM451503 COSM5202273	357	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751534010	357	E>K		No	ExAC TOPMed gnomAD
rs148146045	358	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs200624962	358	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs750338844	359	Y>H		No	ExAC gnomAD
rs756050839	360	Y>H		No	ExAC gnomAD
rs1582022062	361	Q>*		No	Ensembl
rs141021918	362	R>*		No	ESP ExAC TOPMed gnomAD
COSM1643077 COSM1643076 rs753696611	362	R>Q	Variant assessed as Somatic; MODERATE impact. stomach [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs754560631	363	A>P		No	ExAC gnomAD
rs990867946	364	L>P		No	Ensembl
rs1172526308	364	L>V		No	Ensembl
rs771648231	366	I>F		No	ExAC TOPMed gnomAD
rs377182511	366	I>T		No	ESP ExAC TOPMed gnomAD
rs771648231	366	I>V		No	ExAC TOPMed gnomAD
rs1212547663	367	Y>C		No	TOPMed gnomAD
rs1765679491	367	Y>H		No	TOPMed
rs368357683	368	E>D		No	ESP ExAC TOPMed gnomAD
rs1199420805	368	E>G		No	gnomAD
rs1438310233	368	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1438310233	368	E>Q		No	TOPMed gnomAD
rs1183244045	369	G>A		No	gnomAD
rs1459988613	369	G>R		No	gnomAD
rs1765680722	370	Q>H		No	TOPMed
rs763422215	370	Q>P		No	ExAC gnomAD
TCGA novel	371	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1166497437	372	G>E		No	gnomAD
rs952283829	373	P>A		No	Ensembl
rs768950138	373	P>L		No	ExAC gnomAD
rs768950138	373	P>R		No	ExAC gnomAD
rs1765681668	374	D>A		No	Ensembl
TCGA novel	374	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767607990	374	D>N		No	ExAC gnomAD
rs1765681907	375	N>D		No	Ensembl
rs1252405226	375	N>S		No	TOPMed
rs2150357727	376	P>S		No	Ensembl
rs1451218739	377	N>H		No	gnomAD
rs1334436760	377	N>K		No	gnomAD
rs1765682220	377	N>S		No	TOPMed
rs1765682446	378	V>I		No	Ensembl
rs760598507	379	A>G		No	ExAC gnomAD
rs750522763	379	A>P		No	ExAC gnomAD
COSM1736199 COSM1736198 rs372312086	380	R>Q	central_nervous_system [Cosmic]	No	cosmic curated ESP ExAC gnomAD
rs766306345	380	R>W		No	ExAC gnomAD
rs1765683228	381	T>I		No	gnomAD
rs1765683228	381	T>S		No	gnomAD
rs563848878	384	N>K		No	1000Genomes ExAC gnomAD
rs1765708888	386	A>V		No	TOPMed gnomAD
rs201076081	387	S>P		No	gnomAD
rs201076081	387	S>T		No	gnomAD
rs1308856141	390	L>P		No	TOPMed gnomAD
rs1219325096	391	K>R		No	gnomAD
rs1471311140	392	Q>R		No	TOPMed gnomAD
rs1056310412	393	G>D		No	TOPMed gnomAD
rs780886141	393	G>S		No	ExAC TOPMed gnomAD
rs1582023886	395	Y>H		No	Ensembl
rs1765710796	398	A>D		No	gnomAD
COSM4912008 COSM4912007	398	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs896535610	399	E>*		No	Ensembl
rs200112547	400	T>A		No	1000Genomes ExAC TOPMed gnomAD
rs779331095	400	T>I		No	ExAC gnomAD
rs779331095	400	T>R		No	ExAC gnomAD
rs748465173	401	L>P		No	ExAC gnomAD
rs1177440643	401	L>V		No	gnomAD
rs1294124930	402	Y>H		No	Ensembl
TCGA novel	403	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1765712074	404	E>K		No	gnomAD
rs1441157354	405	I>M		No	gnomAD
rs1161214685	406	L>P		No	TOPMed gnomAD
rs1458180083	407	T>A		No	gnomAD
COSM3921814 rs1279053938 COSM3921815	408	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs773330995	408	R>H		No	ExAC TOPMed gnomAD
rs1765713376	409	A>V		No	Ensembl
TCGA novel	410	H>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs770966915	410	H>Y		No	ExAC gnomAD
rs1765713961	411	V>I		No	gnomAD
rs1324546020	412	Q>*		No	TOPMed gnomAD
rs1765714376	412	Q>H		No	TOPMed gnomAD
rs1346598471	412	Q>R		No	gnomAD
rs1765714650	414	F>S		No	TOPMed
rs1377653759	415	G>R		No	TOPMed gnomAD
rs1765714901	416	S>P		No	TOPMed
rs1395735837	418	D>A		No	TOPMed
rs1211629030	419	D>G		No	gnomAD
rs1166606195	419	D>H		No	TOPMed
rs184946966	420	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs550778480	422	K>N		No	1000Genomes
rs771205681	422	K>Q		No	ExAC TOPMed gnomAD
rs1765727710	422	K>R		No	gnomAD
rs1765728357	424	I>T		No	TOPMed gnomAD
COSM71354	425	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs910998463	426	M>I		No	Ensembl
rs1482629987	429	E>K		No	gnomAD
rs146957924	430	E>K		No	ESP ExAC TOPMed gnomAD
rs202069802	431	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs202069802	431	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs202069802	431	R>Q		No	1000Genomes ExAC TOPMed gnomAD
COSM272075 rs41274918	431	R>W	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1466746886	432	E>K		No	gnomAD
rs761552573	434	M>I		No	ExAC gnomAD
rs1765731914	434	M>R		No	Ensembl
rs921352762	434	M>V		No	TOPMed gnomAD
rs201239599	435	S>G		No	1000Genomes gnomAD
rs1255409898	436	K>R		No	Ensembl
rs1489767326	437	S>G		No	TOPMed gnomAD
rs1220774183	437	S>I		No	TOPMed gnomAD
rs1488873628	438	R>Q		No	TOPMed gnomAD
rs535386909	438	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1192974608	439	H>N		No	gnomAD
rs1378762887	439	H>Q		No	gnomAD
rs1192974608	439	H>Y		No	gnomAD
TCGA novel	440	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	441	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs143458800	442	G>C		No	ESP ExAC TOPMed gnomAD
rs763369951	442	G>D		No	ExAC gnomAD
rs752575112	443	G>R		No	ExAC gnomAD
rs751866589	444	T>I		No	ExAC gnomAD
rs975001336	444	T>S		No	TOPMed gnomAD
rs757643371	445	P>A		No	ExAC gnomAD
rs767906019	446	Y>C		No	ExAC TOPMed gnomAD
rs935016302	447	A>T		No	gnomAD
TCGA novel	448	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1447076198	448	E>G		No	gnomAD
rs992077716	449	Y>C		No	gnomAD
rs750585840	450	G>R		No	ExAC gnomAD
TCGA novel	450	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779989406	451	G>R		No	ExAC gnomAD
rs779989406	451	G>S		No	ExAC gnomAD
rs1765749212	452	W>S		No	TOPMed
rs1765749581	453	Y>*		No	TOPMed gnomAD
rs2150358720	453	Y>*		No	Ensembl
rs1309018062	453	Y>C		No	TOPMed
rs1582025650	453	Y>D		No	Ensembl
rs1223955751	454	K>Q		No	TOPMed gnomAD
rs1457329186	459	S>N		No	gnomAD
COSM3921817 COSM3921816	460	S>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756222972	461	P>S		No	ExAC gnomAD
rs1313998895	462	T>A		No	TOPMed gnomAD
rs1765762856	463	V>A		No	gnomAD
rs1765762750	463	V>M		No	Ensembl
rs1582026264	466	T>I		No	Ensembl
COSM3874215 COSM3874216	470	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs753810049	471	G>R		No	ExAC gnomAD
rs1021753364	472	A>G		No	TOPMed gnomAD
rs1416674383	472	A>T		No	TOPMed gnomAD
COSM3874218 COSM3874217	473	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755137175	474	Y>C		No	ExAC gnomAD
rs967750343	475	R>K		No	gnomAD
COSM5209419 rs557603845 COSM451504	476	R>C	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748079269	476	R>H		No	ExAC TOPMed gnomAD
rs748079269	476	R>L		No	ExAC TOPMed gnomAD
rs1765766126	477	Q>R		No	TOPMed
rs758468225	479	K>T		No	ExAC gnomAD
rs1582026381	480	L>V		No	Ensembl
rs546323465	484	E>D		No	1000Genomes ExAC gnomAD
rs1765768171	487	E>K		No	TOPMed
rs956392344	489	C>Y		No	Ensembl
rs1765768895	490	A>V		No	TOPMed
COSM291691 rs201715041	492	R>Q	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs145201350	492	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs368025562	494	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs768070146	494	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs368025562 COSM188590	494	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1334522148	495	R>G		No	TOPMed gnomAD
rs1765796113	499	D>Y		No	gnomAD
rs1765796246	500	P>T		No	TOPMed
rs2150359437	501	I>V		No	Ensembl
COSM3627482 rs745503574 COSM3627483	504	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs745503574	504	T>R		No	ExAC TOPMed gnomAD
rs1437438824	506	V>M		No	gnomAD
rs1157614926	507	A>T		No	TOPMed gnomAD
TCGA novel	507	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs971886235	508	E>D		No	Ensembl
rs1765797430	510	L>P		No	TOPMed
rs202082379	512	E>D		No	ESP ExAC TOPMed gnomAD
rs1352960116	513	S>T		No	TOPMed gnomAD
rs1765797961	514	D>H		No	Ensembl
rs748810038	515	G>D		No	ExAC gnomAD
rs1448929318	515	G>S		No	gnomAD
rs1381242378	521	E>G		No	TOPMed gnomAD
rs1296452259	522	G>V		No	TOPMed
rs113660587	523	P>L		No	TOPMed gnomAD
rs113660587	523	P>R		No	TOPMed gnomAD
rs954594440	524	G>A		No	TOPMed
rs954594440	524	G>E		No	TOPMed
TCGA novel	525	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs987949712	527	V>A		No	Ensembl
rs1765799419	528	K>I		No	TOPMed
rs772409801	530	E>K		No	ExAC TOPMed gnomAD
rs1354911069	531	G>A		No	gnomAD
rs144584070	531	G>R		No	ESP ExAC TOPMed gnomAD
rs377239608	532	G>D		No	ESP ExAC TOPMed gnomAD
rs1264258228	532	G>R		No	gnomAD
rs1176022520	533	E>K		No	TOPMed
rs777195788	534	D>E		No	ExAC gnomAD
rs369225036	534	D>V		No	ESP TOPMed gnomAD
rs759833281	537	V>L		No	ExAC TOPMed gnomAD
rs759833281	537	V>M		No	ExAC TOPMed gnomAD
rs752770926	538	A>V		No	ExAC gnomAD
rs200434138	539	V>G		No	ExAC gnomAD
rs200199406	540	E>G		No	ExAC gnomAD
rs757197195	541	W>G		No	ExAC gnomAD
rs1582028118	542	S>A		No	Ensembl
COSM742917	542	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1336975672	542	S>F		No	gnomAD
rs1336975672	542	S>Y		No	gnomAD
rs137886276	543	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs761741481	544	D>E		No	ExAC gnomAD
rs546419033	546	S>T		No	1000Genomes TOPMed gnomAD
rs890148302	548	T>N		No	TOPMed gnomAD
rs1765816635	550	Q>R		No	TOPMed
rs767451625	552	S>N		No	ExAC TOPMed gnomAD
COSM742916	553	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3627484 COSM3627485	555	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs112027755	556	G>C		No	ExAC TOPMed gnomAD
rs112027755	556	G>R		No	ExAC TOPMed gnomAD
rs112027755	556	G>S		No	ExAC TOPMed gnomAD
COSM1672430 COSM1672429 rs1194219707	559	R>Q	large_intestine [Cosmic]	No	cosmic curated TOPMed gnomAD
rs376910468	559	R>W		No	ESP ExAC TOPMed gnomAD
rs149170698 COSM108304	563	R>C	skin [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs371353190	563	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1333038324	564	R>G		No	TOPMed gnomAD
rs757726436	564	R>K		No	ExAC gnomAD
rs781771109	568	L>R		No	ExAC gnomAD
rs1299292559	569	L>F		No	TOPMed gnomAD
TCGA novel	572	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs770254808	572	K>R		No	ExAC gnomAD
rs1216942685	573	L>F		No	TOPMed gnomAD
rs1300229532	573	L>P		No	gnomAD
rs1216942685	573	L>V		No	TOPMed gnomAD
rs776049500	574	Q>H		No	ExAC
rs749518512	575	G>R		No	ExAC TOPMed gnomAD
rs61742360	579	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs768761968	579	R>W		No	ExAC TOPMed gnomAD
rs1164629902	584	N>D		No	TOPMed gnomAD
TCGA novel	585	M>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM3994984 COSM3994985	585	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1765850399	587	R>Q		No	Ensembl
rs773336338	588	A>E		No	ExAC gnomAD
rs367800145	588	A>T		No	ESP ExAC TOPMed gnomAD
COSM3627487 COSM3627486	590	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751407784	591	L>S		No	Ensembl
rs770860338	591	L>V		No	ExAC TOPMed gnomAD
rs201804208	592	N>D		No	1000Genomes ExAC TOPMed gnomAD
rs759273527	593	Y>C		No	ExAC gnomAD
rs1463573272	596	Q>*		No	TOPMed
rs1376625692	597	P>A		No	TOPMed gnomAD
rs1376625692	597	P>S		No	TOPMed gnomAD
rs140073409	598	S>N		No	1000Genomes ESP ExAC gnomAD
rs752262818	598	S>R		No	ExAC gnomAD
rs1335598142	600	A>T		No	gnomAD
rs956151231	601	P>H		No	TOPMed gnomAD
rs956151231	601	P>L		No	TOPMed gnomAD
rs1765852798	602	L>F		No	TOPMed
rs201391553	602	L>H		No	Ensembl
rs1765895339	604	V>I		No	Ensembl
rs763849280	605	S>F		No	ExAC TOPMed gnomAD
rs767090972	606	R>Q		No	ExAC gnomAD
rs761436715	606	R>W		No	ExAC TOPMed gnomAD
rs957107825	607	G>S		No	TOPMed gnomAD
rs1321550190	607	G>V		No	TOPMed gnomAD
rs1297458470	608	L>F		No	gnomAD
rs754276821	609	S>G		No	ExAC gnomAD
rs779140171	609	S>N		No	ExAC TOPMed gnomAD
rs754276821	609	S>R		No	ExAC gnomAD
rs1765899477	610	A>G		No	Ensembl
TCGA novel	613	M>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs369487235	614	D>H		No	ESP ExAC TOPMed gnomAD
rs369487235	614	D>N		No	ESP ExAC TOPMed gnomAD
rs1233756486	617	S>L		No	gnomAD
rs1281508571	618	S>R		No	TOPMed gnomAD
rs747053713	619	S>C		No	ExAC gnomAD
rs770887637	620	S>L		No	ExAC TOPMed gnomAD
rs112972335	620	S>W		No	Ensembl

No associated diseases with Q9NSK0

6 regional properties for Q9NSK0

Type	Name	Position	InterPro Accession
repeat	Kinesin light chain repeat	362 - 403	IPR015792
repeat	Tetratricopeptide repeat	253 - 286	IPR019734-1
repeat	Tetratricopeptide repeat	295 - 328	IPR019734-2
repeat	Tetratricopeptide repeat	337 - 370	IPR019734-3
repeat	Tetratricopeptide repeat	379 - 412	IPR019734-4
repeat	Tetratricopeptide repeat	464 - 497	IPR019734-5

Functions

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

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
kinesin complex	Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.

1 GO annotations of molecular function

Name	Definition
kinesin binding	Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation.

1 GO annotations of biological process

Name	Definition
microtubule-based movement	A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2TBQ9	KLC3	Kinesin light chain 3	Bos taurus (Bovine)	SS
Q2HJJ0	KLC4	Kinesin light chain 4	Bos taurus (Bovine)	SS
P46824	Klc	Kinesin light chain	Drosophila melanogaster (Fruit fly)	SS
Q9H0B6	KLC2	Kinesin light chain 2	Homo sapiens (Human)	SS
Q6P597	KLC3	Kinesin light chain 3	Homo sapiens (Human)	SS
Q07866	KLC1	Kinesin light chain 1	Homo sapiens (Human)	SS
O88447	Klc1	Kinesin light chain 1	Mus musculus (Mouse)	SS
Q91W40	Klc3	Kinesin light chain 3	Mus musculus (Mouse)	SS
O88448	Klc2	Kinesin light chain 2	Mus musculus (Mouse)	EV
Q9DBS5	Klc4	Kinesin light chain 4	Mus musculus (Mouse)	SS
P37285	Klc1	Kinesin light chain 1	Rattus norvegicus (Rat)	SS
Q68G30	Klc3	Kinesin light chain 3	Rattus norvegicus (Rat)	SS
Q5PQM2	Klc4	Kinesin light chain 4	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MSGLVLGQRD	EPAGHRLSQE	EILGSTRLVS	QGLEALRSEH	QAVLQSLSQT	IECLQQGGHE
70	80	90	100	110	120
EGLVHEKARQ	LRRSMENIEL	GLSEAQVMLA	LASHLSTVES	EKQKLRAQVR	RLCQENQWLR
130	140	150	160	170	180
DELAGTQQRL	QRSEQAVAQL	EEEKKHLEFL	GQLRQYDEDG	HTSEEKEGDA	TKDSLDDLFP
190	200	210	220	230	240
NEEEEDPSNG	LSRGQGATAA	QQGGYEIPAR	LRTLHNLVIQ	YAAQGRYEVA	VPLCKQALED
250	260	270	280	290	300
LERTSGRGHP	DVATMLNILA	LVYRDQNKYK	EAAHLLNDAL	SIRESTLGPD	HPAVAATLNN
310	320	330	340	350	360
LAVLYGKRGK	YKEAEPLCQR	ALEIREKVLG	TNHPDVAKQL	NNLALLCQNQ	GKYEAVERYY
370	380	390	400	410	420
QRALAIYEGQ	LGPDNPNVAR	TKNNLASCYL	KQGKYAEAET	LYKEILTRAH	VQEFGSVDDD
430	440	450	460	470	480
HKPIWMHAEE	REEMSKSRHH	EGGTPYAEYG	GWYKACKVSS	PTVNTTLRNL	GALYRRQGKL
490	500	510	520	530	540
EAAETLEECA	LRSRRQGTDP	ISQTKVAELL	GESDGRRTSQ	EGPGDSVKFE	GGEDASVAVE
550	560	570	580	590	600
WSGDGSGTLQ	RSGSLGKIRD	VLRRSSELLV	RKLQGTEPRP	SSSNMKRAAS	LNYLNQPSAA
610
PLQVSRGLSA	STMDLSSSS