AiPD: Autoinhibited Protein Database

Q8TDC3

Gene name	BRSK1 (KIAA1811, SAD1, SADB)
Protein name	Serine/threonine-protein kinase BRSK1
Names	EC 2.7.11.1 , Brain-selective kinase 1 , EC 2.7.11.26 , Brain-specific serine/threonine-protein kinase 1 , BR serine/threonine-protein kinase 1 , Serine/threonine-protein kinase SAD-B , Synapses of Amphids Defective homolog 1 , SAD1 homolog , hSAD1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84446
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

SAD-B is a serine/threonine kinase involved in neuronal development, cell cycle, and energy metabolism. It is highly expressed in the brain and plays a role in axonal arborization, nerve terminal maturation, and neurotransmitter release. SAD-B contains an AIS near the KA1 domain that regulates its activity. This sequence is flexible and solvent-accessible, allowing it to interact with the kinase domain (KD) and ubiquitin-associated (UBA) domain to inhibit SAD-B activity. The crystal structure of the mouse SAD-B AIS-KA1 fragment reveals that the AIS is highly flexible in its isolated state, suggesting its readiness to bind to the KD-UBA junction for autoinhibition. Furthermore, the biochemical experiments demonstrate that the AIS of SAD-B non-competitively inhibits the kinase activity of SAD-B, similar to the autoinhibition observed in SAD-A, indicating a conserved mechanism between these kinases.

Autoinhibitory domains (AIDs)

592-603 (Autoinhibitory sequence, AIS) SS

Target domain	34-356 (KD-UBA domains)
Relief mechanism	Ligand binding, Others
Assay

AID

592-603 (Autoinhibitory sequence, AIS)

Target domain

34-356 (KD-UBA domains)

Relief mechanism

Ligand binding (Binding of acidic phospholipids to W522D/F523D mutants), Others (Membrane association)

Assay

302-358 (UBA domain) SS

Target domain	604-715 (KA1 domain)
Relief mechanism	Ligand binding, Others
Assay

AID

302-358 (UBA domain)

Target domain

604-715 (KA1 domain)

Relief mechanism

Ligand binding (Binding of acidic phospholipids to W522D/F523D mutants), Others (Membrane association)

Assay

Accessory elements

No accessory elements

References

Ma H et al. (2016) "Structure and inhibition analysis of the mouse SAD-B C-terminal fragment", Bioscience, biotechnology, and biochemistry, 80, 1939-46

Autoinhibited structure

Activated structure

0 structures for Q8TDC3

Entry ID	Method	Resolution	Chain	Position	Source
No available structures

674 variants for Q8TDC3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs867799337	2	S>L		No	gnomAD
rs1600165904	3	S>A		No	Ensembl
rs2122918900	3	S>F		No	Ensembl
rs1484505396	4	G>A		No	gnomAD
rs773253943	7	E>K		No	ExAC TOPMed gnomAD
rs2088278243	9	G>D		No	TOPMed gnomAD
rs2088278182	9	G>S		No	TOPMed
rs2088278314	10	G>E		No	TOPMed gnomAD
rs1052849186	11	G>A		No	TOPMed gnomAD
rs1052849186	11	G>D		No	TOPMed gnomAD
rs1052849186	11	G>V		No	TOPMed gnomAD
rs2088278408	12	S>C		No	Ensembl
rs1018052391	14	A>T		No	TOPMed
rs2088278522	14	A>V		No	TOPMed
rs2088278593	16	H>P		No	gnomAD
rs895592761	16	H>Y		No	TOPMed
rs2088278660	17	L>F		No	TOPMed gnomAD
rs1219405597	17	L>H		No	1000Genomes gnomAD
rs1219405597	17	L>P		No	1000Genomes gnomAD
rs1251505508	18	P>L		No	TOPMed gnomAD
rs761191521	19	H>P		No	ExAC gnomAD
rs995090064	19	H>Q		No	TOPMed gnomAD
COSM1396536	19	H>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1476009850	19	H>Y		No	gnomAD
rs1309873468	21	H>N		No	gnomAD
rs766805767	21	H>P		No	ExAC gnomAD
rs1600165992	22	P>R		No	Ensembl
rs2122919155 TCGA novel	22	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs759878393	23	H>P		No	ExAC gnomAD
rs2088279170	23	H>Q		No	Ensembl
rs561508497	23	H>Y		No	1000Genomes ExAC TOPMed gnomAD
rs2088279256	25	P>L		No	TOPMed
rs1488705322	26	Q>H		No	gnomAD
rs1241276677	26	Q>P		No	gnomAD
rs1193071850	27	H>P		No	TOPMed gnomAD
rs1193071850	27	H>R		No	TOPMed gnomAD
rs2088279411	27	H>Y		No	TOPMed gnomAD
rs1423326445	28	A>P		No	gnomAD
rs2088279569	28	A>V		No	TOPMed
rs1600166042	29	Q>P		No	Ensembl
rs2122919362	30	Y>N		No	Ensembl
TCGA novel	32	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1600166047	34	Y>H		No	Ensembl
rs187444663	37	E>G		No	1000Genomes ExAC gnomAD
rs1159980490	38	K>E		No	gnomAD
COSM4928064	42	K>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778594088	48	V>F		No	ExAC gnomAD
rs2088327478	49	K>R		No	Ensembl
rs1230004427	51	G>A		No	gnomAD
rs1358501267	55	I>M		No	gnomAD
rs747897862	55	I>V		No	ExAC gnomAD
rs151125585	56	T>M		No	ESP ExAC TOPMed gnomAD
COSM159420	58	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1025083220	59	K>R		No	TOPMed gnomAD
rs747229712	60	V>I		No	ExAC gnomAD
rs749610826	62	I>V		No	ExAC TOPMed gnomAD
rs141208516	64	I>M		No	ESP ExAC TOPMed gnomAD
rs980840628	65	V>M		No	TOPMed
rs2088328046	66	N>S		No	gnomAD
rs2088328221	68	E>K		No	TOPMed
rs776004859	70	L>M		No	ExAC TOPMed gnomAD
rs1359287747	71	S>L		No	gnomAD
rs1312876236	73	S>L		No	gnomAD
rs773064177	73	S>T		No	ExAC gnomAD
rs2088328651	74	V>A		No	TOPMed
rs2088328609	74	V>M		No	TOPMed
TCGA novel	77	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1600169189	77	K>R		No	Ensembl
TCGA novel	78	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs762912199	80	R>Q		No	ExAC gnomAD
TCGA novel	80	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs895699433	83	A>T		No	TOPMed gnomAD
rs1163269218	84	I>L		No	TOPMed gnomAD
TCGA novel	87	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1001455 rs2088332782 COSM1001456	89	E>K	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs1002330623	92	H>R		No	TOPMed
rs905688182	92	H>Y		No	TOPMed gnomAD
rs575462692	98	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs753928719	98	D>N		No	ExAC gnomAD
TCGA novel	101	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs2088333361	103	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1430498950	113	V>I		No	TOPMed gnomAD
rs1182339276	114	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs751858160	116	G>S		No	ExAC gnomAD
rs776865070 COSM4666207	116	G>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs755779500	120	D>H		No	ExAC TOPMed gnomAD
rs755779500	120	D>N		No	ExAC TOPMed gnomAD
rs2088372831	121	Y>H		No	Ensembl
rs1452628828	123	V>I		No	gnomAD
rs779744481	124	K>E		No	ExAC
rs2122938091	126	G>E		No	Ensembl
COSM4081528	127	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1367827975	127	R>K		No	gnomAD
rs200073194	129	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs771862476	131	K>N		No	ExAC TOPMed gnomAD
rs777034190	134	R>Q		No	ExAC gnomAD
rs2088373533	135	K>E		No	TOPMed
rs759811002	135	K>N		No	ExAC gnomAD
rs2088373573	135	K>R		No	Ensembl
TCGA novel rs2122938233	136	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2088373691	137	F>L		No	Ensembl
rs765382042	138	R>C		No	ExAC gnomAD
rs1486742178	138	R>H		No	gnomAD
rs2088373870	140	I>T		No	TOPMed
rs1600172017	145	D>A		No	Ensembl
rs2088374030	150	Y>S		No	Ensembl
TCGA novel	151	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs373822368	152	I>V		No	ESP TOPMed
COSM1001458	161	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1477872718	166	E>*		No	TOPMed
rs751803842	167	K>E		No	gnomAD
COSM1001460	167	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1055448786	170	I>V		No	TOPMed
rs762289482 COSM4416456	171	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs767893782	171	R>H		No	ExAC gnomAD
rs2088448496	172	I>V		No	TOPMed
rs2088448714	178	A>V		No	TOPMed
rs2088448986	182	V>M		No	gnomAD
rs2088449208	184	D>E		No	Ensembl
rs777398882	184	D>G		No	ExAC
rs2088449105	184	D>N		No	Ensembl
rs2122953047	190	S>G		No	Ensembl
rs757218974	190	S>R		No	ExAC TOPMed gnomAD
COSM714646	192	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	195	H>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM4081530	196	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs757271976	197	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
TCGA novel	204	G>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	204	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1001462	204	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4936734	205	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM231417	205	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs551181362	210	R>C		No	TOPMed gnomAD
rs2088453702	210	R>H		No	TOPMed
rs779748376	211	R>L		No	ExAC TOPMed gnomAD
rs779748376	211	R>Q		No	ExAC TOPMed gnomAD
TCGA novel rs2088453758	211	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs369642683	214	M>L		No	ESP gnomAD
rs369642683	214	M>V		No	ESP gnomAD
rs1287950959	223	A>S		No	Ensembl
rs1287950959	223	A>T		No	Ensembl
rs1350447001	227	G>R		No	gnomAD
TCGA novel	233	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1600184697	234	D>N		No	Ensembl
rs1600184700	235	N>T		No	Ensembl
rs1600184707	236	L>P		No	Ensembl
rs770899924	237	R>H		No	ExAC gnomAD
rs754468571	238	Q>H		No	Ensembl
rs2088569367	242	K>R		No	TOPMed
rs1469439249	249	H>D		No	gnomAD
rs2088569608	255	P>S		No	TOPMed
rs1181288225	256	P>L		No	TOPMed gnomAD
rs2088569846	260	S>N		No	TOPMed gnomAD
rs772613846 COSM4081532	263	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1397332515	263	R>K		No	gnomAD
COSM4081534	265	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	267	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	273	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM4615298	273	R>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781011613	274	L>F		No	TOPMed gnomAD
rs2088570137	275	S>T		No	Ensembl
rs1228970941	276	L>V		No	gnomAD
rs2088580717	278	Q>K		No	Ensembl
TCGA novel	283	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2088580756	285	Y>D		No	Ensembl
COSM714644 rs549853359	286	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs746696435	287	G>S		No	ExAC TOPMed gnomAD
TCGA novel	288	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780693381	289	K>T		No	ExAC gnomAD
rs1212688414	290	H>Q		No	TOPMed gnomAD
TCGA novel	291	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2088589976	291	E>K		No	Ensembl
rs1292166642	292	P>L		No	gnomAD
rs1440576235	292	P>S		No	gnomAD
rs1202149363	293	D>E		No	gnomAD
TCGA novel	293	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs745440598	294	P>L		No	ExAC TOPMed gnomAD
rs745440598	294	P>R		No	ExAC TOPMed gnomAD
rs2088590469	297	E>K		No	TOPMed
rs2088590547	300	P>R		No	Ensembl
rs1454989960	300	P>S		No	gnomAD
rs1454989960	300	P>T		No	gnomAD
rs768515985	302	R>C		No	ExAC TOPMed gnomAD
rs1405017626	302	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs762094970	303	R>Q		No	ExAC gnomAD
VAR_040394 COSM20545 rs144130246 COSM714640	303	R>W	lung large_intestine stomach a gastric adenocarcinoma sample; somatic mutation [Cosmic, UniProt]	No	cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1600186258	304	V>G		No	Ensembl
rs767793522	304	V>L		No	ExAC gnomAD
rs2088590892	306	M>T		No	Ensembl
rs899885867	307	R>Q		No	TOPMed gnomAD
rs770130862	307	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs766537322	311	S>P		No	ExAC gnomAD
rs755391793	312	N>K		No	ExAC TOPMed gnomAD
rs2088591345	318	D>A		No	Ensembl
rs752945445	319	V>D		No	ExAC gnomAD
rs2088591390 COSM12970 VAR_040395	319	V>I	lung a lung large cell carcinoma sample; somatic mutation [Cosmic, UniProt]	No	cosmic curated Ensembl UniProt
rs758748714	322	S>G		No	ExAC gnomAD
rs142894930	322	S>T		No	ESP ExAC TOPMed gnomAD
rs745487860	324	A>T		No	ExAC TOPMed gnomAD
rs1417719732	324	A>V		No	gnomAD
COSM3893528	325	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3404641	327	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1396542	327	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749274433	329	F>C		No	ExAC gnomAD
rs1172616254	332	R>C		No	TOPMed
rs768407957	332	R>H		No	ExAC TOPMed gnomAD
rs372675247	333	E>K		No	ESP ExAC TOPMed gnomAD
rs771990360	334	R>S		No	ExAC gnomAD
rs2088592239	336	H>R		No	Ensembl
rs1053765698	336	H>Y		No	Ensembl
rs2088592280	337	R>C		No	gnomAD
rs946111526	338	E>K		No	TOPMed
rs1308344035	340	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1360413273 COSM144391 COSM144390	340	R>H	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1360413273	340	R>L		No	gnomAD
rs1470828063	344	E>D		No	gnomAD
TCGA novel	344	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2088600068	345	N>T		No	TOPMed
TCGA novel	347	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs945492905	347	E>G		No	Ensembl
COSM1246245	349	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1340067040	349	M>K		No	gnomAD
rs1194096409	352	Y>F		No	TOPMed gnomAD
rs1254667903	352	Y>N		No	TOPMed
TCGA novel	353	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1469074642	355	L>S		No	TOPMed
rs1431816292 COSM1712857 COSM1712858	356	D>N	skin [Cosmic]	No	cosmic curated gnomAD
COSM3423187 rs1271951177 COSM3423186	357	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1338557061	359	E>K		No	gnomAD
TCGA novel	359	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1001468	360	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	361	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs764470568	361	Y>F		No	ExAC gnomAD
rs1568986818	361	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2122979164	362	P>R		No	Ensembl
rs1202163773	364	C>Y		No	TOPMed gnomAD
COSM3797550	366	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766008194	367	Q>*		No	ExAC gnomAD
rs766008194	367	Q>E		No	ExAC gnomAD
COSM1565005	368	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs529205087	371	P>R		No	Ensembl
rs1441460108	372	R>G		No	TOPMed gnomAD
rs753528403	372	R>Q		No	ExAC gnomAD
rs1441460108	372	R>W		No	TOPMed gnomAD
rs754489426	374	D>E		No	ExAC gnomAD
rs1600187191	376	D>A		No	Ensembl
rs867316647	377	P>L		No	Ensembl
COSM193233 rs746043904	379	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1160140094	379	R>P		No	TOPMed gnomAD
COSM1396546 rs746043904	379	R>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1160140094	379	R>Q		No	TOPMed gnomAD
rs2122980149	379	R>W		No	Ensembl
rs1378692450	381	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2122980181	381	R>H		No	Ensembl
rs2122980196	382	V>G		No	Ensembl
rs1303813273	384	S>F		No	gnomAD
rs1367551603	385	P>A		No	gnomAD
rs1447219717	385	P>L		No	TOPMed
rs1323495436	386	M>T		No	gnomAD
rs2122980241	388	S>G		No	Ensembl
COSM1001469 COSM1001470 rs753486933	389	R>C	Variant assessed as Somatic; MODERATE impact. endometrium urinary_tract [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1307587962	389	R>H		No	TOPMed gnomAD
rs1307587962	389	R>P		No	TOPMed gnomAD
rs371708220	390	H>Q		No	ESP ExAC TOPMed gnomAD
VAR_040396	391	G>E	a metastatic melanoma sample; somatic mutation [UniProt]	No	UniProt
rs1461425914	391	G>R		No	gnomAD
rs758425269	391	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1461425914	391	G>W		No	gnomAD
rs2122980381	392	K>M		No	Ensembl
rs777923423	392	K>N		No	ExAC TOPMed gnomAD
rs200027140	393	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs200027140	393	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1455646246	393	R>W		No	TOPMed
rs757051523	394	R>*		No	ExAC TOPMed gnomAD
rs757051523	394	R>G		No	ExAC TOPMed gnomAD
rs780991388	395	P>A		No	ExAC TOPMed gnomAD
rs780991388	395	P>S		No	ExAC TOPMed gnomAD
rs746105345	397	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2088606045	397	R>W		No	gnomAD
rs2122980491	399	S>Y		No	Ensembl
rs1356715360	400	M>V		No	gnomAD
rs1164458618	403	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2122980560	404	S>C		No	Ensembl
rs2122980560	404	S>G		No	Ensembl
rs2122980580	405	I>T		No	Ensembl
rs1443192600	405	I>V		No	gnomAD
rs776766095	407	D>H		No	ExAC TOPMed gnomAD
rs776766095 COSM714639 COSM714638	407	D>N	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs774882287	408	A>V		No	ExAC gnomAD
rs1393701345	409	G>R		No	gnomAD
rs772349063	409	G>V		No	ExAC TOPMed gnomAD
rs1046521590	410	G>A		No	TOPMed gnomAD
rs1046521590	410	G>D		No	TOPMed gnomAD
rs2122980679	410	G>S		No	Ensembl
TCGA novel	410	G>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM714637	411	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2088606860	412	G>A		No	TOPMed
rs2088606860	412	G>D		No	TOPMed
rs2122980726	415	V>A		No	Ensembl
rs1376670671	415	V>I		No	gnomAD
rs1445493759	416	P>S		No	gnomAD
TCGA novel	417	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1600187404	417	T>P		No	Ensembl
COSM294173 rs2122980780 COSM294172	418	R>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs759115649	418	R>Q		No	ExAC gnomAD
rs536618174	419	R>P		No	ExAC TOPMed gnomAD
rs536618174	419	R>Q		No	ExAC TOPMed gnomAD
rs1241973397	419	R>W		No	gnomAD
rs762590418	422	E>D		No	ExAC gnomAD
rs1433148527	425	Q>K		No	TOPMed gnomAD
rs2122980864	427	S>T		No	Ensembl
rs1255873035	428	Q>H		No	TOPMed gnomAD
rs2122981553	429	R>S		No	Ensembl
rs761161074	430	S>F		No	ExAC gnomAD
rs1262439727	431	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs771389438	431	R>H		No	ExAC TOPMed gnomAD
COSM1184959 COSM1184960 rs775330005	433	V>I	pancreas large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs775330005	433	V>L		No	ExAC TOPMed gnomAD
rs1600187733	434	S>R		No	Ensembl
rs2088611122	434	S>T		No	TOPMed gnomAD
rs1436897392	436	A>T		No	Ensembl
rs1179003070	437	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs762645574	438	T>M		No	ExAC gnomAD
rs369965742	442	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1301900896	442	S>P		No	TOPMed gnomAD
COSM1001472	443	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1401305248	443	S>T		No	TOPMed gnomAD
rs1182237144	446	S>R		No	TOPMed
rs751043676	448	P>L		No	ExAC gnomAD
rs773253522	450	S>N		No	ExAC gnomAD
COSM3668350 rs1166373709 COSM3668349	451	P>L	liver [Cosmic]	No	cosmic curated gnomAD
rs1166373709	451	P>R		No	gnomAD
rs2088618888	452	V>I		No	Ensembl
rs1832479804	454	S>F		No	Ensembl
COSM1631097 rs752859615 COSM1631098	457	P>L	liver [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs752859615	457	P>R		No	ExAC TOPMed gnomAD
rs1444751352	457	P>S		No	gnomAD
rs1444751352	457	P>T		No	gnomAD
rs777663060	459	P>A		No	ExAC TOPMed gnomAD
rs946404143	459	P>L		No	TOPMed gnomAD
rs777663060	459	P>S		No	ExAC TOPMed gnomAD
rs190954611	461	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs757770738	461	A>V		No	ExAC TOPMed gnomAD
rs2088619652	463	D>E		No	TOPMed
rs899290216	463	D>N		No	TOPMed gnomAD
rs1178477425	464	E>D		No	gnomAD
rs2088619691	464	E>G		No	TOPMed
COSM3893532	464	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2088619812	465	A>D		No	Ensembl
rs781697595	465	A>T		No	ExAC gnomAD
rs1183069118	466	R>G		No	gnomAD
rs770275427	466	R>P		No	ExAC TOPMed gnomAD
rs770275427	466	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1000166595	467	G>C		No	gnomAD
rs1000166595	467	G>S		No	gnomAD
TCGA novel	468	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs774089089	469	G>A		No	ExAC TOPMed gnomAD
rs774089089	469	G>D		No	ExAC TOPMed gnomAD
rs774089089	469	G>V		No	ExAC TOPMed gnomAD
rs747737039	470	S>A		No	ExAC TOPMed gnomAD
TCGA novel	470	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs772560710	471	P>R		No	ExAC gnomAD
TCGA novel	471	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1266937949	472	T>S		No	TOPMed gnomAD
rs760614715	473	S>C		No	ExAC gnomAD
rs2088620352	473	S>P		No	Ensembl
rs896628237	474	K>R		No	gnomAD
rs766247198 COSM5570019	475	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1215612602	476	Q>H		No	TOPMed gnomAD
rs1316670099	480	S>A		No	gnomAD
rs1198368827	480	S>C		No	gnomAD
rs1198368827	480	S>F		No	gnomAD
COSM5733151 rs1442587293	481	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1264192115	481	R>W		No	gnomAD
rs776536296	482	G>A		No	ExAC gnomAD
rs776536296	482	G>D		No	ExAC gnomAD
rs952124590	483	P>A		No	gnomAD
rs1243746171	483	P>R		No	TOPMed
rs952124590	483	P>S		No	gnomAD
rs2088621151	484	R>K		No	Ensembl
rs2122983751	485	G>C		No	Ensembl
rs970774477	485	G>D		No	TOPMed gnomAD
rs1437538940	487	G>D		No	TOPMed
rs759394711	488	A>T		No	ExAC TOPMed gnomAD
rs1169639360	489	G>R		No	gnomAD
rs2122983844	490	E>K		No	Ensembl
rs1389713045	492	P>S		No	TOPMed gnomAD
rs752984665	493	P>L		No	ExAC TOPMed gnomAD
rs1443570043	494	P>T		No	Ensembl
rs1300156540	495	P>L		No	TOPMed gnomAD
rs1339054134	496	S>I		No	gnomAD
rs1399046339	496	S>R		No	Ensembl
TCGA novel	496	S>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs764238403	497	A>D		No	ExAC TOPMed gnomAD
rs764238403	497	A>V		No	ExAC TOPMed gnomAD
rs1015322634	498	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1600188674	498	R>P		No	Ensembl
rs1347584894	499	S>F		No	gnomAD
rs2088622058	500	T>I		No	TOPMed
rs1600188698	502	L>P		No	Ensembl
rs1216677239	503	P>S		No	gnomAD
rs2088622390	504	G>A		No	Ensembl
rs1487246223	504	G>S		No	gnomAD
rs2088622575	505	P>H		No	TOPMed
rs915403196	505	P>S		No	TOPMed
rs915403196	505	P>T		No	TOPMed
rs1192862983	506	P>A		No	gnomAD
rs1568987706	507	G>V		No	TOPMed gnomAD
rs1170669002	510	R>C		No	TOPMed gnomAD
rs751535819	510	R>H		No	ExAC TOPMed gnomAD
rs751535819	510	R>L		No	ExAC TOPMed gnomAD
rs1170669002	510	R>S		No	TOPMed gnomAD
rs2088623006	511	S>P		No	Ensembl
rs2088623060	512	S>P		No	Ensembl
rs1160475983	513	G>D		No	TOPMed gnomAD
COSM4755691 rs1399860068	514	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs575665542	515	T>I		No	1000Genomes ExAC gnomAD
rs575665542	515	T>N		No	1000Genomes ExAC gnomAD
rs922438143	516	P>H		No	gnomAD
rs1333387884	516	P>T		No	gnomAD
rs1346643849	518	H>N		No	gnomAD
rs2088623485	518	H>R		No	Ensembl
rs966476467	519	S>T		No	gnomAD
rs2088623616	520	P>T		No	Ensembl
rs780234706	522	H>Q		No	ExAC TOPMed gnomAD
rs1215335381	523	T>K		No	TOPMed gnomAD
rs1215335381	523	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1453299590	524	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1453299590	524	P>L		No	TOPMed gnomAD
rs1440507698	525	R>Q		No	gnomAD
COSM228727 rs771561869 COSM228728	525	R>W	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs777359528	526	A>V		No	ExAC TOPMed gnomAD
rs1163977035	527	S>C		No	gnomAD
rs1163977035	527	S>R		No	gnomAD
rs2088624133	528	P>T		No	gnomAD
rs1393474328	529	T>S		No	gnomAD
rs746580185	530	G>A		No	ExAC gnomAD
rs55892637	531	T>I		No	gnomAD
VAR_040397 rs55892637	531	T>N		No	UniProt dbSNP gnomAD
rs770424829	532	P>L		No	ExAC gnomAD
rs2088624530	533	G>A		No	Ensembl
rs2088624530 TCGA novel	533	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs922321204	533	G>R		No	TOPMed
rs759449612	535	T>P		No	ExAC gnomAD
rs775079832	536	P>R		No	ExAC TOPMed gnomAD
rs1265571997	537	P>S		No	TOPMed gnomAD
rs1265571997	537	P>T		No	TOPMed gnomAD
rs1358315554	538	P>A		No	gnomAD
rs1324353068	538	P>L		No	TOPMed gnomAD
rs1324353068	538	P>R		No	TOPMed gnomAD
COSM4081538	542	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1236574921	543	G>D		No	TOPMed gnomAD
rs751823280	544	V>I		No	ExAC TOPMed gnomAD
rs2088625268	545	G>E		No	gnomAD
rs762020823	545	G>R		No	ExAC gnomAD
rs1163205688	547	A>T		No	TOPMed gnomAD
rs750993052	548	A>G		No	ExAC gnomAD
TCGA novel	548	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs750993052	548	A>V		No	ExAC gnomAD
TCGA novel	549	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2088625453	550	R>K		No	TOPMed
rs1600188972	551	S>R		No	Ensembl
rs2122985031	552	R>C		No	Ensembl
rs1375075461	552	R>H		No	gnomAD
rs2088625614	553	L>F		No	Ensembl
rs2088625614	553	L>V		No	Ensembl
TCGA novel	554	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1184412976	554	N>S		No	TOPMed gnomAD
rs780474606	555	S>F		No	ExAC gnomAD
rs1341745445	556	I>T		No	gnomAD
rs755357977	557	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs777356742	557	R>H		No	ExAC gnomAD
rs746635309	558	N>H		No	ExAC gnomAD
rs2088626221	564	P>A		No	gnomAD
COSM3539420	565	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1201252587	565	R>H		No	gnomAD
rs1258283634	568	R>Q		No	gnomAD
rs745808194	569	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	571	M>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	571	M>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1320389858	571	M>V		No	gnomAD
COSM6152239	572	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1187399984	572	Q>R		No	gnomAD
rs868638024	573	V>A		No	Ensembl
rs769559419	573	V>I		No	ExAC TOPMed gnomAD
rs200060802	574	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs755640966	575	T>A		No	ExAC TOPMed gnomAD
rs779893208	575	T>I		No	ExAC TOPMed gnomAD
rs1214614363	576	A>D		No	gnomAD
rs1355958794	576	A>S		No	TOPMed gnomAD
rs1355958794	576	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs768355194	578	E>K		No	ExAC gnomAD
rs1489115752	581	S>T		No	TOPMed gnomAD
TCGA novel	583	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1452140519	584	P>T		No	gnomAD
COSM3539422	585	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2088634035	586	S>F		No	Ensembl
rs748389956	588	P>Q		No	ExAC
rs2088634081	588	P>T		No	TOPMed
rs765814189	590	L>M		No	ExAC TOPMed gnomAD
rs2088636401	590	L>Q		No	Ensembl
rs754525016	593	R>C		No	ExAC gnomAD
rs564628816	594	S>C		No	1000Genomes ExAC gnomAD
rs752650507	597	G>A		No	ExAC gnomAD
rs758318365	600	I>V		No	ExAC TOPMed gnomAD
rs1360032462	601	S>F		No	gnomAD
rs777577351	601	S>T		No	ExAC gnomAD
rs2088636879	604	K>E		No	TOPMed gnomAD
TCGA novel	606	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs747228714	606	E>Q		No	ExAC gnomAD
rs2088637068	608	I>L		No	gnomAD
rs1280412692	608	I>M		No	TOPMed gnomAD
rs2088637113	608	I>T		No	Ensembl
rs2088637068	608	I>V		No	gnomAD
rs2088637183	609	F>Y		No	Ensembl
rs150046320	610	L>F		No	ESP ExAC TOPMed gnomAD
COSM1184963 rs201185885 COSM1184964	611	V>M	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs769830117	614	D>N		No	ExAC TOPMed gnomAD
rs1485282267	616	P>L		No	TOPMed gnomAD
rs1254807446	616	P>S		No	TOPMed gnomAD
rs145405852	618	S>R		No	ESP
rs2122987827	619	S>N		No	Ensembl
rs1264990132	620	I>V		No	TOPMed gnomAD
rs769038708	623	D>N		No	ExAC gnomAD
rs2088637801	625	V>A		No	Ensembl
rs2088637757	625	V>I		No	TOPMed
TCGA novel	626	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1181482685	628	F>L		No	TOPMed gnomAD
COSM3797554	630	S>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4081542	630	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4081540	630	S>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3539428	632	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2122989858	633	S>N		No	Ensembl
rs2088649353	635	S>N		No	TOPMed
rs1211664750	636	H>R		No	gnomAD
rs1440604831	637	S>N		No	TOPMed gnomAD
rs1440604831	637	S>T		No	TOPMed gnomAD
rs141379955	639	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	646	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2088649765	647	E>K		No	TOPMed
rs1260183406	649	K>Q		No	TOPMed gnomAD
rs2088649945	652	G>D		No	TOPMed
COSM6086006	653	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs370734031	653	G>S		No	ESP ExAC TOPMed gnomAD
rs772512623	654	P>H		No	ExAC gnomAD
rs772512623	654	P>R		No	ExAC gnomAD
rs773675862	655	S>F		No	ExAC gnomAD
rs773675862	655	S>Y		No	ExAC gnomAD
COSM193237 COSM193236 rs769516314	656	V>I	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs146776649	658	Q>H		No	ESP ExAC TOPMed gnomAD
COSM3539432	660	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763486627	661	V>I		No	ExAC TOPMed gnomAD
COSM568069 COSM568070 COSM6086004 rs1231206905	662	R>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs2088650542	662	R>H		No	Ensembl
rs1197783226	668	S>G		No	gnomAD
rs767348208	672	G>S		No	ExAC gnomAD
rs750159563	673	P>R		No	ExAC gnomAD
rs755892185	675	P>L		No	ExAC gnomAD
rs754028790	677	P>L		No	ExAC TOPMed gnomAD
COSM268765	678	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs942967578	678	R>G		No	TOPMed gnomAD
rs201425077	678	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs200690719	679	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA TOPMed gnomAD
rs1039950260	679	R>W		No	TOPMed gnomAD
rs1461724487	680	D>Y		No	TOPMed gnomAD
rs758768411	681	G>S		No	ExAC TOPMed gnomAD
rs372118776	682	S>R		No	ESP ExAC TOPMed gnomAD
rs747441871	683	G>R		No	ExAC TOPMed gnomAD
rs771387446	684	G>R		No	ExAC gnomAD
rs1429230906	684	G>V		No	TOPMed
rs931487934	686	G>D		No	TOPMed
rs201149670	687	I>F		No	ExAC gnomAD
rs2088651835	687	I>S		No	Ensembl
rs201149670	687	I>V		No	ExAC gnomAD
rs773668150	690	V>I		No	ExAC TOPMed gnomAD
rs761823157	693	T>A		No	ExAC TOPMed gnomAD
rs2088652085	694	L>V		No	TOPMed
rs1475493580	695	I>V		No	TOPMed gnomAD
rs770748082	698	P>L		No	ExAC gnomAD
rs1568990131	698	P>S		No	Ensembl
COSM440355 rs1271189057	700	R>C	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs776225509	700	R>H		No	ExAC TOPMed gnomAD
rs1233625803	701	R>P		No	gnomAD
rs759820361	701	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs377342100	703	K>R		No	ESP ExAC gnomAD
rs2088705536	704	R>Q		No	Ensembl
rs752929574	705	V>M		No	ExAC gnomAD
rs1434271676	707	E>G		No	TOPMed gnomAD
rs1434271676	707	E>V		No	TOPMed gnomAD
rs764217260	710	Q>*		No	ExAC gnomAD
rs1600195623	710	Q>L		No	Ensembl
rs2122999996	711	A>T		No	Ensembl
rs752139514	713	L>I		No	ExAC gnomAD
rs1600195644	713	L>P		No	Ensembl
rs1254458750	716	T>A		No	gnomAD
TCGA novel	716	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1466898660	717	H>L		No	gnomAD
rs2088706263	717	H>Y		No	Ensembl
rs2088706481	722	V>M		No	Ensembl
rs200841171	724	A>S		No	1000Genomes
rs200841171	724	A>T		No	1000Genomes
rs1568990215	727	D>H		No	Ensembl
rs1301025307	728	E>*		No	TOPMed gnomAD
rs1301025307	728	E>K		No	TOPMed gnomAD
rs775284371	731	G>A		No	ExAC gnomAD
rs1351923748	731	G>R		No	TOPMed gnomAD
rs1351923748	731	G>W		No	TOPMed gnomAD
rs2088807889	732	A>D		No	gnomAD
rs1600204146	732	A>P		No	Ensembl
rs1600204146	732	A>T		No	Ensembl
rs2088807945	733	Q>K		No	gnomAD
rs749533915	734	T>N		No	ExAC gnomAD
rs373710006	735	R>Q		No	ExAC TOPMed gnomAD
rs540907240	735	R>W		No	ExAC TOPMed gnomAD
rs1408455161	736	P>L		No	gnomAD
rs1421891468	736	P>S		No	TOPMed gnomAD
rs1421891468	736	P>T		No	TOPMed gnomAD
TCGA novel	737	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1600204200	738	G>D		No	Ensembl
rs767613991	738	G>R		No	ExAC gnomAD
rs544673852	740	P>L		No	1000Genomes ExAC gnomAD
rs761204159	741	P>A		No	ExAC TOPMed gnomAD
rs766658785	741	P>L		No	ExAC gnomAD
rs761204159	741	P>S		No	ExAC TOPMed gnomAD
rs759885128	742	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs759885128	742	R>G		No	ExAC TOPMed gnomAD
rs763805486	742	R>L		No	ExAC TOPMed gnomAD
rs763805486	742	R>P		No	ExAC TOPMed gnomAD
rs763805486	742	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2123018520	744	L>Q		No	Ensembl
rs1363582277	746	P>S		No	TOPMed gnomAD
rs1363582277	746	P>T		No	TOPMed gnomAD
rs1414433093	748	P>L		No	Ensembl
rs12978445	749	G>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs12978445	749	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_040398 rs12978445	749	G>S		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs574851872 COSM4081544	750	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs574851872	750	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs370352134	750	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs370352134	750	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs749161942	751	P>A		No	ExAC TOPMed gnomAD
rs768537625	751	P>L		No	ExAC gnomAD
rs749161942	751	P>T		No	ExAC TOPMed gnomAD
TCGA novel	752	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1243665970	753	P>R		No	TOPMed gnomAD
rs2088810015	754	E>D		No	TOPMed
rs748333197	756	S>N		No	ExAC gnomAD
rs956939271	758	S>C		No	TOPMed
rs956939271	758	S>F		No	TOPMed
rs1600204400	758	S>P		No	Ensembl
COSM3893534	759	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs773276955	760	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs761104183	760	R>H		No	ExAC TOPMed gnomAD
COSM1184965 rs1375318038 COSM1184966	761	R>*	large_intestine [Cosmic]	No	cosmic curated TOPMed gnomAD
rs771530018 COSM255387 COSM255388	761	R>Q	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs17855468	762	G>A		No	Ensembl
rs1320612968	762	G>R		No	gnomAD
rs759936463	763	P>L		No	ExAC TOPMed gnomAD
rs1430538066	763	P>S		No	gnomAD
VAR_040399 rs55796422	764	P>A		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201200452	764	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201200452	764	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs55796422	764	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1600204569	765	K>Q		No	gnomAD
TCGA novel	765	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1039461918	766	D>H		No	TOPMed
rs766946093	769	L>F		No	ExAC TOPMed gnomAD
rs2088812024	771	A>D		No	TOPMed gnomAD
rs931036088	771	A>S		No	TOPMed gnomAD
rs750007267	772	T>S		No	ExAC gnomAD
rs755574448	774	G>R		No	ExAC TOPMed gnomAD
rs1244846157	775	T>I		No	TOPMed gnomAD
rs2088812652	776	P>H		No	Ensembl
rs954938765	776	P>S		No	Ensembl

No associated diseases with Q8TDC3

4 regional properties for Q8TDC3

Type	Name	Position	InterPro Accession
domain	Formin, GTPase-binding domain	93 - 285	IPR010473
domain	Diaphanous autoregulatory (DAD) domain	1302 - 1336	IPR014767
domain	Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	94 - 490	IPR014768
domain	Formin, FH2 domain	868 - 1332	IPR015425

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Nucleus Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Synapse Presynaptic active zone Cytoplasmic vesicle, secretory vesicle, synaptic vesicle	Nuclear in the absence of DNA damage Translocated to the nucleus in response to UV- or MMS-induced DNA damage (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
distal axon	That part of an axon close to and including the growth cone or the axon terminus.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
presynaptic active zone	A specialized region of the plasma membrane and cell cortex of a presynaptic neuron; encompasses a region of the plasma membrane where synaptic vesicles dock and fuse, and a specialized cortical cytoskeletal matrix.
synaptic vesicle	A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.

8 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
gamma-tubulin binding	Binding to the microtubule constituent protein gamma-tubulin.
magnesium ion binding	Binding to a magnesium (Mg) ion.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine kinase activity	Catalysis of the reactions
protein serine/threonine kinase activity	Catalysis of the reactions
tau protein binding	Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS.
tau-protein kinase activity	Catalysis of the reaction

18 GO annotations of biological process

Name	Definition
associative learning	Learning by associating a stimulus (the cause) with a particular outcome (the effect).
axonogenesis	De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells.
centrosome duplication	The replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized.
DNA damage response	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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
establishment of cell polarity	The specification and formation of anisotropic intracellular organization or cell growth patterns.
G2/M transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex.
microtubule cytoskeleton organization involved in establishment of planar polarity	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins and contributes to the establishment of planar polarity.
mitotic G2 DNA damage checkpoint signaling	A mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
neurotransmitter secretion	The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of axonogenesis	Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron.
regulation of neuron projection development	Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
regulation of synaptic plasticity	A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
regulation of synaptic vesicle clustering	Any process that modulates the frequency, rate or extent of synaptic vesicle clustering.
response to UV	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 an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
synaptic vesicle cycle	A biological process in which synaptic vesicles are loaded with neurotransmitters, move to the active zone, exocytose and are then recycled via endocytosis, ultimately leading to reloading with neurotransmitters.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O14757	CHEK1	Serine/threonine-protein kinase Chk1	Homo sapiens (Human)	EV
Q8IWQ3	BRSK2	Serine/threonine-protein kinase BRSK2	Homo sapiens (Human)	PR
Q14680	MELK	Maternal embryonic leucine zipper kinase	Homo sapiens (Human)	EV
P57059	SIK1	Serine/threonine-protein kinase SIK1	Homo sapiens (Human)	PR
Q9NRH2	SNRK	SNF-related serine/threonine-protein kinase	Homo sapiens (Human)	SS
Q9BXA7	TSSK1B	Testis-specific serine/threonine-protein kinase 1	Homo sapiens (Human)	PR
O60285	NUAK1	NUAK family SNF1-like kinase 1	Homo sapiens (Human)	PR
Q13131	PRKAA1	5'-AMP-activated protein kinase catalytic subunit alpha-1	Homo sapiens (Human)	EV
P54646	PRKAA2	5'-AMP-activated protein kinase catalytic subunit alpha-2	Homo sapiens (Human)	EV
Q69Z98	Brsk2	Serine/threonine-protein kinase BRSK2	Mus musculus (Mouse)	EV
Q5RJI5	Brsk1	Serine/threonine-protein kinase BRSK1	Mus musculus (Mouse)	EV
D3ZML2	Brsk2	Serine/threonine-protein kinase BRSK2	Rattus norvegicus (Rat)	SS
B2DD29	Brsk1	Serine/threonine-protein kinase BRSK1	Rattus norvegicus (Rat)	SS
Q5QNM6	CIPK13	Putative CBL-interacting protein kinase 13	Oryza sativa subsp japonica (Rice)	PR
Q19469	sad-1	Serine/threonine kinase SAD-1	Caenorhabditis elegans	SS

10	20	30	40	50	60
MSSGAKEGGG	GSPAYHLPHP	HPHPPQHAQY	VGPYRLEKTL	GKGQTGLVKL	GVHCITGQKV
70	80	90	100	110	120
AIKIVNREKL	SESVLMKVER	EIAILKLIEH	PHVLKLHDVY	ENKKYLYLVL	EHVSGGELFD
130	140	150	160	170	180
YLVKKGRLTP	KEARKFFRQI	VSALDFCHSY	SICHRDLKPE	NLLLDEKNNI	RIADFGMASL
190	200	210	220	230	240
QVGDSLLETS	CGSPHYACPE	VIKGEKYDGR	RADMWSCGVI	LFALLVGALP	FDDDNLRQLL
250	260	270	280	290	300
EKVKRGVFHM	PHFIPPDCQS	LLRGMIEVEP	EKRLSLEQIQ	KHPWYLGGKH	EPDPCLEPAP
310	320	330	340	350	360
GRRVAMRSLP	SNGELDPDVL	ESMASLGCFR	DRERLHRELR	SEEENQEKMI	YYLLLDRKER
370	380	390	400	410	420
YPSCEDQDLP	PRNDVDPPRK	RVDSPMLSRH	GKRRPERKSM	EVLSITDAGG	GGSPVPTRRA
430	440	450	460	470	480
LEMAQHSQRS	RSVSGASTGL	SSSPLSSPRS	PVFSFSPEPG	AGDEARGGGS	PTSKTQTLPS
490	500	510	520	530	540
RGPRGGGAGE	QPPPPSARST	PLPGPPGSPR	SSGGTPLHSP	LHTPRASPTG	TPGTTPPPSP
550	560	570	580	590	600
GGGVGGAAWR	SRLNSIRNSF	LGSPRFHRRK	MQVPTAEEMS	SLTPESSPEL	AKRSWFGNFI
610	620	630	640	650	660
SLDKEEQIFL	VLKDKPLSSI	KADIVHAFLS	IPSLSHSVLS	QTSFRAEYKA	SGGPSVFQKP
670	680	690	700	710	720
VRFQVDISSS	EGPEPSPRRD	GSGGGGIYSV	TFTLISGPSR	RFKRVVETIQ	AQLLSTHDQP
730	740	750	760	770
SVQALADEKN	GAQTRPAGAP	PRSLQPPPGR	PDPELSSSPR	RGPPKDKKLL	ATNGTPLP