AiPD: Autoinhibited Protein Database

Q8NFR9

Gene name	IL17RE (UNQ3056/PRO9877)
Protein name	Interleukin-17 receptor E
Names	IL-17 receptor E, IL-17RE
Species	Homo sapiens (Human)
KEGG Pathway	hsa:132014
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

111-182 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

111-182 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q8NFR9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NFR9-F1	Predicted				AlphaFoldDB

520 variants for Q8NFR9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA2245955 rs773670702	7	A>T		No	ClinGen ExAC gnomAD
CA2245956 RCV000953193 rs12492494	7	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2245958 rs752089805	8	A>G		No	ClinGen ExAC gnomAD
rs1238418797 CA351724476	9	L>P		No	ClinGen gnomAD
CA351724471 rs1238418797	9	L>Q		No	ClinGen gnomAD
rs753270327 CA351724491	10	L>P		No	ClinGen ExAC gnomAD
rs753270327 CA2245961	10	L>R		No	ClinGen ExAC gnomAD
CA69996061 rs373613636	10	L>V		No	ClinGen ESP
CA351724504 rs1575474293	11	L>P		No	ClinGen Ensembl
rs968100427 CA69996071	12	P>S		No	ClinGen Ensembl
rs1559265132 CA351724560	14	L>F		No	ClinGen Ensembl
CA2245963 rs764765544	15	L>F		No	ClinGen ExAC
CA2245965 rs758287950	16	I>M		No	ClinGen ExAC gnomAD
CA2245964 rs750291115	16	I>T		No	ClinGen ExAC gnomAD
rs1004907087 CA69996112	17	V>L		No	ClinGen TOPMed
CA351724673 rs201241474	18	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA69996119 rs1016654192	18	I>V		No	ClinGen TOPMed
CA351724693 rs1360739955	19	D>E		No	ClinGen gnomAD
rs147707054 CA2245967	19	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1056694592 CA69996137	21	S>C		No	ClinGen Ensembl
CA351724742 rs1559265228	22	D>A		No	ClinGen Ensembl
rs1376224929 CA351724754	22	D>E		No	ClinGen gnomAD
rs754859281 CA2245970	23	S>P		No	ClinGen ExAC TOPMed gnomAD
CA69996155 rs916819960	25	G>E		No	ClinGen Ensembl
CA2245971 rs781399788	29	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs199990414 CA2245972	29	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199990414 CA2245973	29	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199797162 CA2245974	30	H>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2245976 rs771287551	32	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1440878150 CA351724918	35	N>S		No	ClinGen gnomAD
CA2245978 rs375736949	37	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA351724929 rs375736949	37	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs201089226 CA2245979	37	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776244855 CA2245981	39	P>R		No	ClinGen ExAC gnomAD
CA2245980 rs767901425	39	P>T		No	ClinGen ExAC gnomAD
rs1408048950 CA351724961	41	A>D		No	ClinGen TOPMed gnomAD
rs1408048950 CA351724965	41	A>V		No	ClinGen TOPMed gnomAD
CA351724979 rs1345393763	42	S>F		No	ClinGen TOPMed
rs764754231 CA2245983	44	T>M		No	ClinGen ExAC TOPMed gnomAD
rs764754231 CA351725011	44	T>R		No	ClinGen ExAC TOPMed gnomAD
rs745894082 CA69996550	46	D>E		No	ClinGen Ensembl
CA2246010 rs777885324	46	D>G		No	ClinGen ExAC gnomAD
CA2246009 rs756019365	46	D>N		No	ClinGen ExAC gnomAD
TCGA novel	46	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559266265 CA351725310	50	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs753906961 CA2246011	50	G>R		No	ClinGen ExAC gnomAD
CA2246035 rs769336537	51	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2246036 rs150288330	51	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1402017866 CA351725366	53	A>D		No	ClinGen gnomAD
rs1387516644 CA351725355	53	A>T		No	ClinGen TOPMed
CA69997067 rs751233907	54	Y>C		No	ClinGen Ensembl
rs149524572 CA69997074	56	P>H		No	ClinGen ESP ExAC gnomAD
rs149524572 CA2246039	56	P>L		No	ClinGen ESP ExAC gnomAD
CA2246038 rs770571811	56	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA69997075 rs940553558	57	C>S		No	ClinGen TOPMed gnomAD
rs558859018 CA69997081	57	C>W		No	ClinGen Ensembl
TCGA novel	57	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2246040 rs759166537	58	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2246041 rs771748630	58	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2246042 rs201034782	59	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351725540 rs1559266348	60	W>C		No	ClinGen Ensembl
rs760437006 CA2246043	60	W>S		No	ClinGen ExAC gnomAD
rs1483476733 CA351725561	61	W>*		No	ClinGen gnomAD
COSM1425911 CA2246044 rs762990550	61	W>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2246045 rs776580996	63	L>V		No	ClinGen ExAC gnomAD
rs368803744 CA2246046	66	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	66	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765244447 CA2246047	68	P>S		No	ClinGen ExAC gnomAD
CA351725757 rs1381017987	69	W>C		No	ClinGen gnomAD
rs1178025634 CA351725738	69	W>R		No	ClinGen gnomAD
CA2246048 rs750513626	70	C>R		No	ClinGen ExAC gnomAD
CA2246049 rs758588778	70	C>Y		No	ClinGen ExAC gnomAD
rs144881083 CA2246051	72	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2246052 rs755429353	72	R>Q		No	ClinGen ExAC gnomAD
CA351725801 rs1221715015	73	V>I		No	ClinGen TOPMed
rs781637773 CA351725850	75	H>L		No	ClinGen ExAC TOPMed gnomAD
CA2246053 rs781637773	75	H>R		No	ClinGen ExAC TOPMed gnomAD
rs756673444 CA2246055	78	R>C		No	ClinGen ExAC TOPMed gnomAD
rs778350863 CA2246056	78	R>H		No	ClinGen ExAC gnomAD
CA2246057 rs778350863	78	R>L		No	ClinGen ExAC gnomAD
rs1300238517 CA351726004	80	L>S		No	ClinGen gnomAD
CA351725980 rs1228634140	80	L>V		No	ClinGen TOPMed
rs1312424851 CA351726024	81	C>*		No	ClinGen gnomAD
rs771668200 CA2246058	82	Q>*		No	ClinGen ExAC gnomAD
CA2246063 rs776351933	88	G>D		No	ClinGen ExAC
CA351726263 rs1270850383	88	G>S		No	ClinGen TOPMed gnomAD
rs370267115 CA2246083	91	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	92	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146099095 CA2246086	93	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2246085 COSM1736504 rs562257790 COSM1736505	93	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs759900690 CA351728004	94	G>D		No	ClinGen ExAC gnomAD
CA2246087 rs59269999	94	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759900690 CA2246088	94	G>V		No	ClinGen ExAC gnomAD
rs548979458 CA2246089	95	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA69998928 rs971780239	96	F>L		No	ClinGen TOPMed gnomAD
rs761120126 CA2246091	97	H>N		No	ClinGen ExAC gnomAD
rs1253075170 CA351728168	98	L>F		No	ClinGen TOPMed
rs764324782 CA2246093	105	K>M		No	ClinGen ExAC gnomAD
rs757644619 CA2246095	109	F>L		No	ClinGen ExAC gnomAD
rs754374381 CA2246094	109	F>L		No	ClinGen ExAC gnomAD
CA69998933 rs985609217	110	K>E		No	ClinGen TOPMed
rs372470651 CA2246097	111	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1217757241 CA351728936	113	R>K		No	ClinGen TOPMed gnomAD
rs1559268767 CA351728929	113	R>W		No	ClinGen Ensembl
CA2246099 rs780845083	115	H>Q		No	ClinGen ExAC gnomAD
CA351729302 rs1472083348	120	P>H		No	ClinGen gnomAD
rs747759318 CA2246100	121	A>T		No	ClinGen ExAC gnomAD
CA2246102 rs777377389	122	Q>H		No	ClinGen ExAC gnomAD
CA351730756 rs1376303402	124	K>R		No	ClinGen TOPMed gnomAD
CA2246125 rs531119371	128	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779011867 CA2246126 COSM1049299 COSM1594152	128	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2246127 rs188907497	129	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351730866 rs188907497	129	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2246128 COSM447138 rs188907497	129	R>P	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs775653078 CA2246129	130	H>Y		No	ClinGen ExAC gnomAD
CA69999263 rs899710093	132	S>T		No	ClinGen Ensembl
CA2246132 rs777104213	135	S>N		No	ClinGen ExAC gnomAD
rs762108222 CA2246133	136	H>Q		No	ClinGen ExAC gnomAD
rs1457870766 CA351731100	137	H>P		No	ClinGen gnomAD
rs765546874 CA2246134	140	I>V		No	ClinGen ExAC
rs1425594819 CA351731192	141	P>L		No	ClinGen Ensembl
CA69999282 rs1053607809	141	P>S		No	ClinGen Ensembl
CA351731269 rs1477511054	146	S>T		No	ClinGen gnomAD
rs767075232 CA2246137	147	H>R		No	ClinGen ExAC gnomAD
TCGA novel	150	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1538998 rs752148163 CA2246138	151	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2246139 rs755834801	151	R>H		No	ClinGen ExAC
CA351731420 rs1169964959	152	S>F		No	ClinGen gnomAD
COSM308400 rs148396419 CA2246140	153	K>E	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1385867989 CA351731484	154	R>M		No	ClinGen TOPMed
CA2246141 rs567958931 CA351731489	154	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1329519799 CA351731497	155	T>P		No	ClinGen gnomAD
rs988897648 CA69999317	157	P>S		No	ClinGen TOPMed gnomAD
rs988897648 CA351731564	157	P>T		No	ClinGen TOPMed gnomAD
CA2246142 COSM1692348 rs757147183 COSM1692349	158	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1456511971 CA351731648	159	D>E		No	ClinGen TOPMed
rs1420079488 CA351731766	164	E>K		No	ClinGen TOPMed
CA351731792 rs1165960158	165	S>G		No	ClinGen Ensembl
CA2246146 rs780247234	165	S>I		No	ClinGen ExAC TOPMed gnomAD
CA351731799 rs780247234	165	S>N		No	ClinGen ExAC TOPMed gnomAD
rs780247234 CA2246147	165	S>T		No	ClinGen ExAC TOPMed gnomAD
rs368085212 CA2246148	166	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776749345 CA2246149	166	L>R		No	ClinGen ExAC gnomAD
rs1046210303 CA69999359	167	P>L		No	ClinGen gnomAD
rs748919179 CA69999370	168	R>G		No	ClinGen Ensembl
CA2246150 rs748337486	170	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2246151 rs770161153	172	Q>H		No	ClinGen ExAC gnomAD
rs906398383 CA69999392	172	Q>K		No	ClinGen Ensembl
rs200855579 CA2246169	177	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA69999537 rs867302178	178	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1387274045 CA351732457	179	F>C		No	ClinGen gnomAD
rs373097999 CA2246171	181	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA351732529 rs1242464406	182	D>V		No	ClinGen TOPMed
CA2246172 rs774746701	183	L>F		No	ClinGen ExAC gnomAD
rs4684656 CA69999565	184	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA351732577 rs1332834743	184	L>R		No	ClinGen gnomAD
rs768060797 CA2246174	185	P>L		No	ClinGen ExAC gnomAD
CA69999613 rs764951330	188	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2246177 rs764951330	188	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs373337717 CA2246176	188	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1286423855 CA351732642	189	A>D		No	ClinGen TOPMed gnomAD
rs750291269 CA2246178	189	A>T		No	ClinGen ExAC gnomAD
rs1286423855 CA351732647	189	A>V		No	ClinGen TOPMed gnomAD
rs1486761584 CA351732656	190	I>L		No	ClinGen gnomAD
TCGA novel	190	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351732682 rs766131618	191	R>L		No	ClinGen ExAC gnomAD
CA2246180 rs766131618	191	R>Q		No	ClinGen ExAC gnomAD
CA2246179 rs762873000	191	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2246181 rs751466637	192	V>L		No	ClinGen ExAC gnomAD
rs1184235338 CA351732719	194	I>V		No	ClinGen gnomAD
rs1575483310 CA351732777	197	G>D		No	ClinGen Ensembl
rs1446211229 CA351732875	201	S>N		No	ClinGen TOPMed
CA2246185 rs80297306	201	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777989851 CA2246187	202	V>M		No	ClinGen ExAC TOPMed
rs145320586 CA2246189	203	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2246190 rs779276130	203	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2246188 rs145320586	203	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351732960 rs1171188251	204	L>V		No	ClinGen gnomAD
rs1402069424 CA351732988	205	C>S		No	ClinGen TOPMed gnomAD
rs1374062734 CA351733036	207	Q>*		No	ClinGen gnomAD
CA351733114 rs1307197314	211	E>K		No	ClinGen gnomAD
rs1318364211 CA351733197	214	E>K		No	ClinGen gnomAD
CA351733231 rs1230742813	215	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772626784 CA2246192	216	S>R		No	ClinGen ExAC gnomAD
CA2246193 rs776320131	218	P>T		No	ClinGen ExAC gnomAD
rs7356031 VAR_036956 CA2246194 RCV000974178	219	Y>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2246195 rs572762954	220	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA2246197 rs138745343	222	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351733910 rs771573643	224	I>M		No	ClinGen ExAC TOPMed gnomAD
rs760545422 CA2246221	225	V>A		No	ClinGen ExAC TOPMed gnomAD
CA351734071 rs1365824598	228	G>V		No	ClinGen gnomAD
CA351734154 rs1276104291	230	T>N		No	ClinGen gnomAD
rs764212950 CA2246222	230	T>P		No	ClinGen ExAC gnomAD
rs753908988 CA2246223	231	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2246225 rs765475776	232	E>D		No	ClinGen ExAC TOPMed gnomAD
CA70000776 rs943374005	232	E>Q		No	ClinGen TOPMed gnomAD
CA2246224 rs368606954	232	E>V		No	ClinGen ESP ExAC gnomAD
rs1219626186 CA351734349	238	L>I		No	ClinGen gnomAD
rs979550397 CA70000791	242	L>P		No	ClinGen TOPMed
CA2246249 rs111232928	247	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs778225748 CA2246251	250	Q>K		No	ClinGen ExAC gnomAD
rs548910450 CA351735743	253	T>A		No	ClinGen ExAC gnomAD
rs771706418 CA2246253	253	T>S		No	ClinGen ExAC gnomAD
CA2246252 rs548910450	253	T>S		No	ClinGen ExAC gnomAD
rs144732083 CA2246254	254	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144732083 CA351735759	254	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2246256 rs461222	256	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs461222 CA2246255	256	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs143031647 CA2246257	256	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765974050 CA70001677 CA351735873	257	K>N		No	ClinGen TOPMed gnomAD
CA351735897 rs761598923	258	K>N		No	ClinGen ExAC gnomAD
CA70001680 rs199684866	259	C>Y		No	ClinGen 1000Genomes
rs878993752 CA70001730	261	F>L		No	ClinGen gnomAD
rs769976185 CA2246259	263	S>R		No	ClinGen ExAC gnomAD
TCGA novel	264	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2246260 rs458698	265	P>L		No	ClinGen ESP ExAC gnomAD
rs458698 CA70001761	265	P>Q		No	ClinGen ESP ExAC gnomAD
CA351736171 rs1423245985	266	E>K		No	ClinGen Ensembl
CA2246261 rs763309250	267	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1470323112 CA351736198	267	A>T		No	ClinGen TOPMed gnomAD
rs1422852430 CA351736238	268	Y>H		No	ClinGen gnomAD
rs765808702 CA2246292	269	G>A		No	ClinGen ExAC TOPMed gnomAD
rs765808702 CA351737780	269	G>V		No	ClinGen ExAC TOPMed gnomAD
CA351737806 rs1298869570	270	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
RCV000974179 CA2246294 rs115354176	271	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2246297 rs144831806	277	H>D		No	ClinGen ESP ExAC TOPMed
CA351738056 rs1383573715	277	H>Q		No	ClinGen gnomAD
rs777605624 CA2246298	279	T>A		No	ClinGen ExAC TOPMed gnomAD
CA351738196 rs1575490223	281	Y>S		No	ClinGen Ensembl
rs1416886049 CA351738270	284	H>R		No	ClinGen TOPMed
CA70003142 rs944752122	285	T>A		No	ClinGen TOPMed gnomAD
rs749173765 CA2246300	287	M>R		No	ClinGen ExAC gnomAD
CA2246301 rs577817135	290	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA351738476 rs1432239927	293	L>P		No	ClinGen gnomAD
CA2246305 rs369298897	294	R>C		No	ClinGen ESP ExAC gnomAD
rs369298897 CA2246306	294	R>G		No	ClinGen ESP ExAC gnomAD
rs144937970 CA2246307	294	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2246308 rs777127140	300	E>K		No	ClinGen ExAC gnomAD
rs762250379 CA2246311	302	A>P		No	ClinGen ExAC gnomAD
CA70003180 rs756166495	306	R>M		No	ClinGen Ensembl
CA351738891 rs1387968640	308	D>G		No	ClinGen gnomAD
RCV000884397 rs61743385 CA2246313	308	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1325430114 CA351738916	309	W>*		No	ClinGen gnomAD
CA2246315 rs767101306	311	T>I		No	ClinGen ExAC TOPMed gnomAD
rs372587810 CA2246319	315	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs757251709 CA2246320	315	D>E		No	ClinGen ExAC gnomAD
CA351739091 rs1451994973	315	D>H		No	ClinGen gnomAD
rs372587810 CA2246318	315	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs779171191 CA2246322	317	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779171191 CA2246321	317	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA351739188 rs1381488794	319	A>S		No	ClinGen gnomAD
rs1452897220 CA351739244	320	T>I		No	ClinGen TOPMed gnomAD
rs747188126 CA70003228	322	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2246325 rs747188126	322	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2246326 rs138199794	322	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA70003248 rs1014625209	323	E>D		No	ClinGen TOPMed
rs773710369 CA2246349	327	W>*		No	ClinGen ExAC TOPMed gnomAD
rs748111948 CA2246350	327	W>C		No	ClinGen ExAC TOPMed gnomAD
CA70003350 COSM1239117 rs770102091 CA2246348	327	W>R	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2246351 rs370860056	329	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1195510993 CA351739745	331	E>Q		No	ClinGen gnomAD
CA351739818 rs1197719665	333	V>E		No	ClinGen gnomAD
rs761734268 CA2246356	337	P>S		No	ClinGen ExAC gnomAD
rs1298338987 CA351740072	341	F>V		No	ClinGen gnomAD
rs1402829951	342	K>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA70003385 rs1001486518	342	K>E		No	ClinGen TOPMed
CA351740101 rs1398192625	342	K>R		No	ClinGen gnomAD
CA351740455 rs1170571723	348	S>N		No	ClinGen gnomAD
CA351740561 rs1374391437	350	H>R		No	ClinGen gnomAD
CA2246372 rs776429324	351	V>I		No	ClinGen ExAC gnomAD
rs1162667705 CA351740611	352	E>G		No	ClinGen gnomAD
CA70003488 rs906231425	353	C>*		No	ClinGen TOPMed gnomAD
rs1366037766 CA351740632	353	C>S		No	ClinGen gnomAD
TCGA novel	353	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761501267 CA2246373	355	H>N		No	ClinGen ExAC gnomAD
rs143362321 CA2246374	356	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	356	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351740824 rs1361185549	356	Q>R		No	ClinGen gnomAD
rs1385981606 CA351740865	357	T>P		No	ClinGen TOPMed
CA2246394 rs534818447	359	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1172448796 CA351741049	360	L>V		No	ClinGen TOPMed
rs1175244674 CA351741068	361	T>A		No	ClinGen gnomAD
rs1559274058 CA351741119	363	W>C		No	ClinGen Ensembl
rs1419595523 CA351741106	363	W>R		No	ClinGen gnomAD
CA2246397 rs767647560	365	V>A		No	ClinGen ExAC gnomAD
rs752738022 CA2246398	366	S>I		No	ClinGen ExAC gnomAD
rs756380885 CA2246399	371	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1407085733 CA351741353	371	A>V		No	ClinGen gnomAD
rs796120191 CA70003635	373	Q>K		No	ClinGen Ensembl
rs148568377 CA2246400	379	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2246401 rs753969888	380	S>A		No	ClinGen ExAC TOPMed gnomAD
CA351741607 rs1290678071	382	M>I		No	ClinGen TOPMed gnomAD
rs767930689 CA70003659	383	H>P		No	ClinGen ExAC TOPMed
rs767930689 CA2246403	383	H>R		No	ClinGen ExAC TOPMed
CA2246404 rs746436338	384	A>V		No	ClinGen ExAC TOPMed gnomAD
rs780890206 CA2246406	390	W>*		No	ClinGen ExAC gnomAD
rs190040397 CA70003684 CA2246408	391	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA351741887 rs777485408	392	L>F		No	ClinGen ExAC gnomAD
CA2246409 rs777485408	392	L>V		No	ClinGen ExAC gnomAD
CA70003701 rs982134722	393	P>Q		No	ClinGen TOPMed gnomAD
rs748833079 CA2246410	395	L>S		No	ClinGen ExAC gnomAD
CA2246411 rs150541120	398	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1480097265 CA351742089	399	T>A		No	ClinGen gnomAD
CA351742113 rs1175767964	400	L>F		No	ClinGen gnomAD
CA351742128 rs1426048232	401	V>M		No	ClinGen gnomAD
CA2246413 rs9870003 VAR_036957	402	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs9870003 CA351742146	402	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759506902 CA2246415	403	P>A		No	ClinGen ExAC TOPMed gnomAD
CA70003741 rs1048991474	403	P>L		No	ClinGen Ensembl
rs759506902 CA2246414	403	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2246417 rs548604857	404	V>M		No	ClinGen ExAC TOPMed gnomAD
rs748230310	404	V>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2246418 rs764017461	406	T>A		No	ClinGen ExAC TOPMed gnomAD
rs754104975 CA2246419	407	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1346577725 CA351742342	409	Q>*		No	ClinGen gnomAD
rs1212305837 CA351742363	409	Q>R		No	ClinGen TOPMed gnomAD
CA2246443 rs763414241	410	A>G		No	ClinGen ExAC TOPMed gnomAD
rs750632580 CA2246442	410	A>S		No	ClinGen ExAC gnomAD
rs200160526 CA70007372	411	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351743822 rs376826050	411	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2246446 rs376826050	411	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376826050 CA2246445	411	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2246444 COSM1647703 COSM732171 rs200160526	411	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs144171626 CA2246447	412	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144171626 CA2246448	412	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1559276471 CA351743859	413	S>*		No	ClinGen Ensembl
rs756738555 CA2246449	413	S>P		No	ClinGen ExAC gnomAD
CA351743899 rs1365371197	415	P>S		No	ClinGen gnomAD
rs1446906718 CA351743949	417	S>L		No	ClinGen gnomAD
rs7647642 CA2246451 VAR_036958	417	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1381631583 CA351744048	420	L>F		No	ClinGen gnomAD
rs376636725 CA2246455	426	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs768447086 CA2246456	427	P>A		No	ClinGen ExAC gnomAD
rs61743354 CA2246457	429	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396213075 CA351744245	429	C>W		No	ClinGen TOPMed
rs771090930 CA351744954	435	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771090930 CA2246498	435	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1402887286 CA351744946	435	R>W		No	ClinGen TOPMed gnomAD
rs74317933 CA70007792	436	S>A		No	ClinGen Ensembl
CA351745020 rs1464557938	438	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs746049625 CA2246500	439	Q>L		No	ClinGen ExAC gnomAD
CA351745118 rs1275777287	442	W>*		No	ClinGen gnomAD
rs1228023729 CA351745115	442	W>R		No	ClinGen TOPMed gnomAD
rs1176544751 CA351745180	444	H>R		No	ClinGen TOPMed
CA2246503 rs761211829	445	L>P		No	ClinGen ExAC TOPMed gnomAD
CA351745258 rs1360561991	447	C>Y		No	ClinGen gnomAD
COSM1318638 CA2246507 rs777074215	448	P>L	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2246506 rs777074215	448	P>Q		No	ClinGen ExAC gnomAD
rs1442454370 CA351745419	450	V>G		No	ClinGen gnomAD
CA351745459 rs1471003743	452	Y>H		No	ClinGen TOPMed
rs1414339015 CA351745635	457	L>F		No	ClinGen gnomAD
CA351745677 rs1425468380	459	I>S		No	ClinGen gnomAD
CA351745680 rs1425468380	459	I>T		No	ClinGen gnomAD
rs762293353 CA2246525	460	L>Q		No	ClinGen ExAC gnomAD
rs766884498 CA70007909	465	L>V		No	ClinGen gnomAD
rs189832357 CA70007926	467	T>I		No	ClinGen 1000Genomes
rs189832357 CA70007913	467	T>N		No	ClinGen 1000Genomes
CA351745907 rs1575497301	467	T>P		No	ClinGen Ensembl
CA351746013 rs1391078288	470	G>S		No	ClinGen gnomAD
rs1450815582 CA351746028	470	G>V		No	ClinGen gnomAD
CA2246529 rs767217518	471	V>G		No	ClinGen ExAC gnomAD
rs1197934505 CA351746129	474	A>T		No	ClinGen TOPMed gnomAD
rs752355917 CA2246530	474	A>V		No	ClinGen ExAC TOPMed gnomAD
rs760548335 CA2246531	475	L>F		No	ClinGen ExAC gnomAD
rs1459694012 CA351746931	476	T>I		No	ClinGen gnomAD
CA351746917 rs1269521387	476	T>P		No	ClinGen gnomAD
rs1266122498 CA351746945	477	C>G		No	ClinGen TOPMed gnomAD
rs1266122498 CA351746940	477	C>S		No	ClinGen TOPMed gnomAD
rs368250337 CA351746960	478	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2246535 rs555705554	478	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2246534 rs555705554	478	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1049321 rs368250337 COSM1594148 CA2246533	478	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs992398278 CA70007986	479	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2246536 rs142982332	479	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1472905198 CA351746983	480	P>L		No	ClinGen gnomAD
CA70007996 rs138311340	481	Q>*		No	ClinGen ESP TOPMed gnomAD
CA351746994 rs1313618907	481	Q>H		No	ClinGen TOPMed
CA351746990 rs1414357768	481	Q>L		No	ClinGen gnomAD
CA70007997 rs765156390	482	S>*		No	ClinGen Ensembl
CA70007999 rs541556156	483	G>R		No	ClinGen 1000Genomes gnomAD
CA70008277 rs866786645	483	G>V		No	ClinGen Ensembl
CA2246558 rs199508515	484	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1013714967 CA70008288	485	G>V		No	ClinGen TOPMed gnomAD
rs912371200 CA70008289	487	A>S		No	ClinGen gnomAD
rs912371200 CA351747108	487	A>T		No	ClinGen gnomAD
rs1450432319 CA351747117	487	A>V		No	ClinGen gnomAD
rs1320759876 CA351747141	488	R>P		No	ClinGen TOPMed
rs1216226527 CA351747131	488	R>W		No	ClinGen TOPMed
rs1234630420 CA351747169	489	P>S		No	ClinGen TOPMed
CA351747219 rs1452695767	491	L>F		No	ClinGen TOPMed gnomAD
rs943882747 CA70008290	492	L>F		No	ClinGen gnomAD
CA351747267 rs1387761812	493	L>P		No	ClinGen TOPMed
rs1405332810 CA351747298	495	A>S		No	ClinGen gnomAD
CA351747317 rs1025056388	496	A>E		No	ClinGen TOPMed gnomAD
CA70008296 rs1025056388	496	A>V		No	ClinGen TOPMed gnomAD
CA351747379 rs1167302875	499	E>K		No	ClinGen TOPMed
CA351747413 rs1475644223	500	A>P		No	ClinGen TOPMed
rs1423052721 CA351747493	503	R>C		No	ClinGen TOPMed
CA2246560 rs781584427	503	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1043711373 CA70008298	506	G>R		No	ClinGen Ensembl
CA70008300 rs999753443	507	A>G		No	ClinGen Ensembl
CA70008299 rs903856874	507	A>T		No	ClinGen Ensembl
rs1005167246 CA70008301	508	L>R		No	ClinGen TOPMed
rs1467836826 CA351747727	511	L>P		No	ClinGen TOPMed
rs756390309 CA2246562	514	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1230313681 CA351747857	515	A>E		No	ClinGen gnomAD
CA2246564 rs200521188	516	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200521188 CA70008319	516	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2246565 rs763558756	517	G>P*		No	ClinGen ExAC gnomAD
rs1453328953 CA351747920	518	G>C		No	ClinGen gnomAD
rs1206934439 CA351747931	519	G>R		No	ClinGen gnomAD
CA2246567 rs771769398	523	I>S		No	ClinGen ExAC gnomAD
rs775137724 CA2246568	524	V>M		No	ClinGen ExAC TOPMed gnomAD
CA70008371 rs1028092161	525	D>Y		No	ClinGen TOPMed
rs1559278862 CA351748227	527	W>S		No	ClinGen Ensembl
CA351748305 rs1369303492	529	G>E		No	ClinGen TOPMed
CA351748300 rs1455143044	529	G>W		No	ClinGen gnomAD
CA351748343 rs1388879399	530	R>M		No	ClinGen gnomAD
rs768405034 CA351748353	530	R>S		No	ClinGen ExAC TOPMed gnomAD
rs62245462 CA70008389	531	H>N		No	ClinGen Ensembl
rs1339595499 CA351748412	532	V>M		No	ClinGen gnomAD
CA2246572 rs776100104	533	A>E		No	ClinGen ExAC gnomAD
rs546163553 CA2246574	535	V>L		No	ClinGen ExAC gnomAD
CA351748544 rs1267629180	536	G>D		No	ClinGen gnomAD
CA70008394 rs113779283	537	P>L		No	ClinGen TOPMed gnomAD
rs113779283 CA70008391	537	P>Q		No	ClinGen TOPMed gnomAD
CA351748578 rs1399824314	537	P>S		No	ClinGen TOPMed
rs773216468 CA2246575	539	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA351748663 rs1254351704	539	P>T		No	ClinGen gnomAD
CA351748703 rs1188708993	540	W>*		No	ClinGen gnomAD
CA70008398 rs912440416	540	W>R		No	ClinGen TOPMed
rs1171002228 CA351748768	542	W>C		No	ClinGen TOPMed
rs762794268 CA351748786	543	A>E		No	ClinGen ExAC TOPMed gnomAD
rs762794268 CA2246576	543	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2246578 rs751617003	544	A>E		No	ClinGen ExAC gnomAD
rs766484554 CA2246577	544	A>T		No	ClinGen ExAC
CA351748806 rs751617003	544	A>V		No	ClinGen ExAC gnomAD
rs1250951790 CA351748824	545	R>L		No	ClinGen TOPMed
rs1458375700 CA351748819	545	R>W		No	ClinGen gnomAD
rs759562352 CA2246579	547	R>C		No	ClinGen ExAC TOPMed gnomAD
CA351748872 rs1355467953	547	R>P		No	ClinGen Ensembl
rs767754203 CA2246580	549	A>E		No	ClinGen ExAC gnomAD
rs995276282 CA70008409	551	E>*		No	ClinGen TOPMed gnomAD
CA351748984 rs1575501122	552	Q>R		No	ClinGen Ensembl
rs557700506 CA2246583	553	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA351749150 rs1442030462	558	L>P		No	ClinGen TOPMed
CA351749180 rs1327057933	559	W>C		No	ClinGen TOPMed
TCGA novel	561	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172039017 CA351749317	565	R>S		No	ClinGen TOPMed
rs779763652 CA351749359	566	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779763652 CA2246586	566	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1575501368 CA351749370	567	V>F		No	ClinGen Ensembl
rs886637355 CA70008436	569	G>C		No	ClinGen TOPMed gnomAD
CA351749401 rs886637355	569	G>S		No	ClinGen TOPMed gnomAD
CA70008438 rs912461029	570	P>L		No	ClinGen TOPMed gnomAD
CA351749450 rs1575501430	571	D>A		No	ClinGen Ensembl
rs1037975961 CA351749454	571	D>E		No	ClinGen TOPMed gnomAD
CA70008441 rs965362084	572	P>S		No	ClinGen TOPMed gnomAD
rs965362084 CA351749457	572	P>T		No	ClinGen TOPMed gnomAD
rs1209506769 CA351749482	573	R>H		No	ClinGen TOPMed
CA351749560 rs1575501549	577	L>Q		No	ClinGen Ensembl
rs1463201322 CA351749575	578	L>F		No	ClinGen gnomAD
rs1376691449 CA351749598	579	A>S		No	ClinGen gnomAD
rs953692809 CA70008482	582	H>R		No	ClinGen TOPMed
CA2246588 rs768241737	584	A>V		No	ClinGen ExAC gnomAD
rs1248219645 CA351749724	585	P>R		No	ClinGen gnomAD
CA351749714 rs1207584602	585	P>S		No	ClinGen gnomAD
CA351749738 rs1368537783	586	R>H		No	ClinGen gnomAD
TCGA novel	588	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA70008501 rs866726060	591	L>I		No	ClinGen Ensembl
CA351749842 rs1181466004	592	A>G		No	ClinGen TOPMed gnomAD
CA351749836 rs1350353971	592	A>P		No	ClinGen TOPMed
CA351749845 rs1181466004	592	A>V		No	ClinGen TOPMed gnomAD
rs1352280812 CA351749872	593	Y>*		No	ClinGen gnomAD
CA351749896 rs576280155	594	F>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs1299336543 CA351749910	595	S>G		No	ClinGen TOPMed gnomAD
CA70008549 rs866163273	601	G>S		No	ClinGen gnomAD
CA70008550 rs1018357864	603	I>T		No	ClinGen Ensembl
rs925243817 CA70008562	606	P>L		No	ClinGen TOPMed
CA351750114 rs1384020406	606	P>T		No	ClinGen TOPMed
rs1363958650 CA351750137	608	R>G		No	ClinGen TOPMed
CA70008567 rs935303416	612	R>C		No	ClinGen TOPMed gnomAD
rs1268771536 CA351750180	612	R>H		No	ClinGen Ensembl
CA351750191 rs1450799410	613	Y>C		No	ClinGen gnomAD
CA2246591 rs747700317	618	D>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	621	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs543785455 CA2246592	624	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA70008573 rs916614115	628	A>S		No	ClinGen TOPMed
rs1351676196 CA351750361	628	A>V		No	ClinGen TOPMed
rs112543409 CA351750400	632	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112543409 CA2246593	632	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351750404 rs1387943298	632	A>V		No	ClinGen gnomAD
rs1357502021 CA351750417	633	E>D		No	ClinGen TOPMed
rs1046487619 CA70008583	633	E>K		No	ClinGen TOPMed
CA351750421 rs1448595830	634	A>T		No	ClinGen gnomAD
rs1278246905 CA351750432	635	T>S		No	ClinGen gnomAD
rs1169037007 CA351750463	637	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1372295346 CA351750506	640	L>P		No	ClinGen gnomAD
CA351750528 rs1293948239	642	A>S		No	ClinGen TOPMed
rs762926614 CA2246594	645	R>L		No	ClinGen ExAC gnomAD
rs1447962567 CA351750635	649	R>G		No	ClinGen Ensembl
CA351750639 rs1309500964	649	R>H		No	ClinGen Ensembl
rs770876719 CA2246595	650	L>I		No	ClinGen ExAC gnomAD
rs1448747567 CA351750659	651	E>*		No	ClinGen TOPMed
CA2246596 rs774228808	652	L>V		No	ClinGen ExAC TOPMed gnomAD
CA351750731 rs1363320058	654	S>C		No	ClinGen gnomAD
CA351750733 rs1228101070	654	S>N		No	ClinGen TOPMed gnomAD
rs757201402 CA2246599	655	R>L		No	ClinGen ExAC gnomAD
rs757201402 CA70008629	655	R>P		No	ClinGen ExAC gnomAD
rs757201402 CA351750749	655	R>Q		No	ClinGen ExAC gnomAD
rs1265385653 CA351750770	656	L>F		No	ClinGen gnomAD
CA2246602 rs754134014	657	E>Q		No	ClinGen ExAC gnomAD
rs1459532655 CA351750848	658	R>P		No	ClinGen TOPMed
rs1459532655 CA351750845	658	R>Q		No	ClinGen TOPMed
rs1188962360 CA351750983	661	A>S		No	ClinGen TOPMed gnomAD
rs1391840746 CA351751007	662	R>P		No	ClinGen gnomAD
CA2246605 rs560659267	664	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754551222 CA2246606	665	D>G		No	ClinGen ExAC gnomAD
rs1369014645 CA351751112	666	L>V		No	ClinGen TOPMed gnomAD
rs1198409150 CA351751158	668	G>W		No	ClinGen gnomAD

No associated diseases with Q8NFR9

2 regional properties for Q8NFR9

Type	Name	Position	InterPro Accession
domain	SEFIR domain	487 - 626	IPR013568
domain	Interleukin-17 receptor C/E, N-terminal	40 - 448	IPR027841

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cell membrane ; Single-pass type I membrane protein ;
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.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
interleukin-17 receptor activity	Combining with any member of the interleukin-17 family of cytokines and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.

1 GO annotations of biological process

Name	Definition
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6ZVW7	IL17REL	Putative interleukin-17 receptor E-like	Homo sapiens (Human)	PR

10	20	30	40	50	60
MGSSRLAALL	LPLLLIVIDL	SDSAGIGFRH	LPHWNTRCPL	ASHTDDSFTG	SSAYIPCRTW
70	80	90	100	110	120
WALFSTKPWC	VRVWHCSRCL	CQHLLSGGSG	LQRGLFHLLV	QKSKKSSTFK	FYRRHKMPAP
130	140	150	160	170	180
AQRKLLPRRH	LSEKSHHISI	PSPDISHKGL	RSKRTQPSDP	ETWESLPRLD	SQRHGGPEFS
190	200	210	220	230	240
FDLLPEARAI	RVTISSGPEV	SVRLCHQWAL	ECEELSSPYD	VQKIVSGGHT	VELPYEFLLP
250	260	270	280	290	300
CLCIEASYLQ	EDTVRRKKCP	FQSWPEAYGS	DFWKSVHFTD	YSQHTQMVMA	LTLRCPLKLE
310	320	330	340	350	360
AALCQRHDWH	TLCKDLPNAT	ARESDGWYVL	EKVDLHPQLC	FKFSFGNSSH	VECPHQTGSL
370	380	390	400	410	420
TSWNVSMDTQ	AQQLILHFSS	RMHATFSAAW	SLPGLGQDTL	VPPVYTVSQA	RGSSPVSLDL
430	440	450	460	470	480
IIPFLRPGCC	VLVWRSDVQF	AWKHLLCPDV	SYRHLGLLIL	ALLALLTLLG	VVLALTCRRP
490	500	510	520	530	540
QSGPGPARPV	LLLHAADSEA	QRRLVGALAE	LLRAALGGGR	DVIVDLWEGR	HVARVGPLPW
550	560	570	580	590	600
LWAARTRVAR	EQGTVLLLWS	GADLRPVSGP	DPRAAPLLAL	LHAAPRPLLL	LAYFSRLCAK
610	620	630	640	650	660
GDIPPPLRAL	PRYRLLRDLP	RLLRALDARP	FAEATSWGRL	GARQRRQSRL	ELCSRLEREA

ARLADLG