AiPD: Autoinhibited Protein Database

Q96N76

Gene name	UROC1
Protein name	Urocanate hydratase
Names	Urocanase, Imidazolonepropionate hydrolase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:131669
EC number	4.2.1.49: Hydro-lyases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-66 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-66 (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 Q96N76

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96N76-F1	Predicted				AlphaFoldDB

691 variants for Q96N76

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000193396 rs147828466 RCV000765705 COSM1593287 COSM1037774 CA206855	14	R>W	endometrium Urocanate hydratase deficiency [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs184621973 CA2591721 RCV002505482 RCV000974009 COSM4138402 COSM4138403	20	R>Q	ovary Urocanate hydratase deficiency [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000000435 CA114250 rs137852796 VAR_062649	70	L>P	Urocanate hydratase deficiency UROCD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000971737 VAR_034000 rs34488036 RCV002488059 CA2591493	188	R>W	Urocanate hydratase deficiency [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1418655 RCV001334555 rs751617501 COSM1418654 CA2591454	214	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine Urocanate hydratase deficiency [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs781621925 RCV001250106 CA2591341	285	W>*	Variant assessed as Somatic; 0.0 impact. Urocanate hydratase deficiency [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs202232611 RCV000899767 CA2591342 RCV000791066	285	W>*	Urocanate hydratase deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2591225 RCV000728205 RCV002533086 rs377309471	324	R>C	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_060221 CA114248 rs137852795 RCV000000434	450	R>C	Variant assessed as Somatic; 0.0 impact. Urocanate hydratase deficiency UROCD; loss of activity [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1935770465 RCV001250102	483	S>missing	Urocanate hydratase deficiency [ClinVar]	Yes	ClinVar dbSNP
rs759882583 RCV000480441 CA2591012 RCV002525931	490	D>N	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs759932171 CA2591737	3	S>G		No	ClinGen ExAC gnomAD
rs1560131464 CA354320764	3	S>T		No	ClinGen Ensembl
CA83257748 rs996153552	4	L>P		No	ClinGen gnomAD
CA2591735 rs200446368	6	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2591732 rs768418106	7	L>P		No	ClinGen ExAC gnomAD
rs749257323 CA2591731	9	S>C		No	ClinGen ExAC gnomAD
rs1430028124 CA354320681	9	S>P		No	ClinGen TOPMed gnomAD
CA354320647 rs1474785990	12	P>T		No	ClinGen gnomAD
CA2591727 rs780052973	13	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2591728 rs780052973	13	L>R		No	ClinGen ExAC TOPMed gnomAD
CA2591725 rs777933935	14	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA83257705 rs574853149	16	L>R		No	ClinGen Ensembl
CA354320580 rs1275358661	18	E>K		No	ClinGen gnomAD
CA2591722 rs184621973	20	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354320543 rs184621973	20	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753170886 CA2591723	20	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1333954474 CA354320537	21	G>R		No	ClinGen TOPMed
rs1284787601 CA354320531	21	G>V		No	ClinGen gnomAD
rs527715107 CA2591719	22	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs761537039 CA2591718	22	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1576737622 CA354320514	23	Q>R		No	ClinGen Ensembl
rs763688533 CA2591716	24	A>S		No	ClinGen ExAC gnomAD
CA2591715 rs762604638	25	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1576737603 CA354320498	26	V>G		No	ClinGen Ensembl
CA2591714 rs775557255	26	V>L		No	ClinGen ExAC gnomAD
rs146471695 CA354320494	27	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2591712 rs146471695	27	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA354339252 rs1474200582	29	A>D		No	ClinGen gnomAD
rs1256676234 CA354339247	30	P>S		No	ClinGen gnomAD
rs754789566 CA83296306	31	V>D		No	ClinGen Ensembl
rs964334558 CA354339242	31	V>F		No	ClinGen TOPMed gnomAD
CA83296318 rs964334558	31	V>L		No	ClinGen TOPMed gnomAD
CA2591710 rs560271047	33	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560271047 CA2591709	33	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1347513754 CA354339216	35	S>R		No	ClinGen TOPMed gnomAD
rs1437405781 CA354339192	39	V>L		No	ClinGen TOPMed gnomAD
rs1437405781 CA354339193	39	V>M		No	ClinGen TOPMed gnomAD
rs1560131287 CA354339179	41	K>E		No	ClinGen Ensembl
CA354339147 rs760513235	43	L>P		No	ClinGen ExAC gnomAD
rs760513235 CA2591674	43	L>Q		No	ClinGen ExAC gnomAD
CA354339142 rs1252472477	44	A>E		No	ClinGen TOPMed gnomAD
CA354339140 rs1252472477	44	A>V		No	ClinGen TOPMed gnomAD
rs200539848 CA2591672	47	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA2591670 rs774371917	48	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	48	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2591669 rs151076375	49	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1282834500 CA354339110	50	R>C		No	ClinGen TOPMed gnomAD
rs749388303 CA2591668	50	R>H		No	ClinGen ExAC TOPMed gnomAD
CA354339107 rs749388303	50	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2591667 rs746191170	52	F>I		No	ClinGen ExAC TOPMed gnomAD
rs746191170 CA2591666	52	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2591665 rs746191170	52	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1576730716 CA354339092	53	P>A		No	ClinGen Ensembl
CA354339088 rs1576730710	53	P>L		No	ClinGen Ensembl
rs758085216 CA2591663	54	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764241328	54	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs747772496 CA2591658	55	D>G		No	ClinGen ExAC
rs764241328	55	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA354339073 rs1560127923	56	V>I		No	ClinGen Ensembl
rs1576730662 CA354339067	57	Q>*		No	ClinGen Ensembl
CA2591657 rs778758625	58	E>*		No	ClinGen ExAC gnomAD
CA2591656 COSM1149597 COSM727667 rs754495263	61	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1338435550 CA354339040	61	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs73859506 CA2591654 RCV000969458	65	A>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs73859506 CA354339017	65	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756019777 CA2591653	66	Q>*		No	ClinGen ExAC gnomAD
rs201516841 CA2591652	67	E>G		No	ClinGen ExAC gnomAD
CA354339005 rs1394668300	67	E>K		No	ClinGen gnomAD
rs764292132 CA2591649	71	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs775450030 CA2591647	72	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2591645 rs146872522	75	Y>C		No	ClinGen ESP ExAC gnomAD
TCGA novel	75	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	76	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354338946 rs143914676	76	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs747433719 CA2591642	76	M>T		No	ClinGen ExAC gnomAD
CA2591643 rs143914676	76	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA83290037 COSM1616841 rs1046405146 COSM1616840	77	Y>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs140107683 CA354338932	78	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140107683 CA2591639	78	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs140107683 CA2591640	78	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs373743584 CA2591641	78	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs779449130 CA2591638	80	C>R		No	ClinGen ExAC TOPMed gnomAD
rs750327157 CA2591636	82	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs984339422 CA83290003	83	I>V		No	ClinGen Ensembl
rs371894847 CA2591635	84	E>A		No	ClinGen ESP ExAC gnomAD
rs1158209949 CA354338887	85	M>T		No	ClinGen TOPMed
CA2591634 rs757044396	85	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2591633 rs764323965	86	R>K		No	ClinGen ExAC gnomAD
rs764323965 CA2591632	86	R>M		No	ClinGen ExAC gnomAD
rs1416978003 CA354338863	87	A>T		No	ClinGen gnomAD
CA2591619 rs781043275	89	P>L		No	ClinGen ExAC gnomAD
CA2591618 rs781043275	89	P>R		No	ClinGen ExAC gnomAD
CA354338849 rs1456065493	89	P>T		No	ClinGen gnomAD
CA354338839 rs1270662412	91	E>K		No	ClinGen gnomAD
rs993499114 CA83289062	93	Y>*		No	ClinGen TOPMed gnomAD
CA354338821 rs1576729790	93	Y>S		No	ClinGen Ensembl
CA83289056 rs1025805540	95	C>*		No	ClinGen TOPMed
rs977284187 CA83289055	96	Q>*		No	ClinGen TOPMed
CA2591616 COSM1566294 rs556450823 COSM1566293	97	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1334254307 CA354338777	100	A>P		No	ClinGen TOPMed gnomAD
rs777464664 CA2591615	101	A>G		No	ClinGen ExAC TOPMed gnomAD
rs777464664 CA83289028	101	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2591613 rs752841139	102	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1323915184 CA354338763	103	I>L		No	ClinGen gnomAD
rs1323915184 CA354338762	103	I>V		No	ClinGen gnomAD
CA354338742 rs1289912012	105	H>P		No	ClinGen TOPMed
rs1455816581 CA354338745	105	H>Y		No	ClinGen TOPMed
rs1386272728 CA354338733	106	M>I		No	ClinGen TOPMed gnomAD
CA354338738 rs1461406775	106	M>V		No	ClinGen gnomAD
rs139510629 CA2591612	108	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1000061005 CA354338715	109	N>D		No	ClinGen TOPMed gnomAD
rs1000061005 CA83289002	109	N>H		No	ClinGen TOPMed gnomAD
CA354338710 rs1362927908	109	N>K		No	ClinGen gnomAD
CA354338707 rs1193880771	110	N>D		No	ClinGen gnomAD
CA354338704 rs1455263079	110	N>S		No	ClinGen TOPMed gnomAD
CA354338696 rs1576729707	111	L>R		No	ClinGen Ensembl
CA2591611 RCV000909503 rs148075272	115	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354338665 rs1262473574	116	A>V		No	ClinGen TOPMed
rs1286235647 CA354338662	117	Q>*		No	ClinGen gnomAD
CA83288983 rs925197027	117	Q>P		No	ClinGen Ensembl
CA2591588 rs200128917	119	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200128917 CA2591587	119	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs768125782 CA2591586	121	E>*		No	ClinGen ExAC gnomAD
rs1576728679 CA354338619	121	E>D		No	ClinGen Ensembl
CA354338612 CA354338611 rs1475065968	123	V>L		No	ClinGen gnomAD
rs926229351 CA83287938	125	Y>C		No	ClinGen Ensembl
CA2591585 rs762077369	126	G>R		No	ClinGen ExAC gnomAD
CA83287922 rs1008757966	127	G>E		No	ClinGen TOPMed
rs540839108 CA2591580	131	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA354338559 rs540839108	131	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2591581 rs776306436	131	V>M		No	ClinGen ExAC gnomAD
CA354338556 rs1576728638	132	F>V		No	ClinGen Ensembl
CA354338545 rs1275247318	133	S>I		No	ClinGen gnomAD
rs1212852273 CA354338524	136	A>P		No	ClinGen gnomAD
TCGA novel	137	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781365158 CA2591548 CA354338494	138	F>L		No	ClinGen ExAC TOPMed gnomAD
CA354338469 rs1195544433	142	M>T		No	ClinGen gnomAD
CA354338473 rs1253730210	142	M>V		No	ClinGen gnomAD
rs752040556 CA2591546	144	Y>C		No	ClinGen ExAC gnomAD
CA354338454 rs1560126560	144	Y>D		No	ClinGen Ensembl
rs1217039423 CA354338446	145	L>S		No	ClinGen gnomAD
rs778315196 CA2591545	146	S>L		No	ClinGen ExAC gnomAD
CA354338437 rs1239000868	147	K>Q		No	ClinGen gnomAD
CA2591542 rs765960568	148	M>I		No	ClinGen ExAC gnomAD
TCGA novel	150	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	150	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	150	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2591540 rs749857275	153	T>A		No	ClinGen ExAC gnomAD
rs767018980 CA2591539	153	T>N		No	ClinGen ExAC gnomAD
TCGA novel	156	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83287441 rs761278178	156	M>R		No	ClinGen ExAC gnomAD
rs761278178 CA2591538	156	M>T		No	ClinGen ExAC gnomAD
rs1432727397 CA354338359	157	Y>*		No	ClinGen TOPMed gnomAD
CA2591535 rs147422431	159	G>E		No	ClinGen ESP ExAC gnomAD
CA2591536 rs529624069	159	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs775450479 CA2591534	162	L>V		No	ClinGen ExAC gnomAD
CA354338322 rs1173336697	163	G>D		No	ClinGen TOPMed
CA354338319 rs1452654264	164	L>F		No	ClinGen gnomAD
CA2591533 rs769868539	166	P>T		No	ClinGen ExAC gnomAD
CA2591530 rs115378383	169	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369545977 CA2591529	169	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs369545977 CA354338283	169	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1296473225 CA354338281	170	S>G		No	ClinGen TOPMed
CA354338271 rs1576728244	171	A>G		No	ClinGen Ensembl
CA354338274 rs1282008495	171	A>T		No	ClinGen gnomAD
rs753007763 CA2591526	173	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs546955698 COSM1240612 COSM1240613 CA2591527	173	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2591524 rs755334697	175	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2591523 rs750064546	176	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1415154217 CA354338239	177	T>N		No	ClinGen gnomAD
rs767132362 CA2591522	178	N>S		No	ClinGen ExAC gnomAD
rs1315012177 CA354338224	179	G>E		No	ClinGen gnomAD
rs1438142696 CA354338216	180	M>I		No	ClinGen TOPMed gnomAD
rs761403676 CA2591521	180	M>K		No	ClinGen ExAC gnomAD
rs1377961900 CA354338201	181	V>F		No	ClinGen TOPMed
CA2591496 rs190442002	182	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs776306972 CA2591495	186	S>A		No	ClinGen ExAC gnomAD
CA2591494 rs116272550	186	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2591492 COSM1418657 COSM1418656 rs143782037	188	R>Q	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2591491 rs772113328	189	T>A		No	ClinGen ExAC gnomAD
RCV000889950 rs145948028 CA2591490	189	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2591487 rs749606483	192	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1010838044 CA83287134	192	E>K		No	ClinGen gnomAD
rs1560126231 CA354338123	193	K>N		No	ClinGen Ensembl
CA354338126 rs1258286396	193	K>R		No	ClinGen TOPMed
CA354338122 rs1475835221	194	L>I		No	ClinGen TOPMed
rs780302396 CA2591486	194	L>P		No	ClinGen ExAC gnomAD
rs200891379 CA83287119	198	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2591484 rs746640310	199	V>I		No	ClinGen ExAC gnomAD
rs777626973 CA2591483	201	M>T		No	ClinGen ExAC TOPMed gnomAD
CA354338079 rs1364671937	201	M>V		No	ClinGen gnomAD
rs778320185 CA354338051	203	G>C		No	ClinGen ExAC TOPMed gnomAD
RCV000889949 CA2591461 rs138206716	203	G>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2591462 rs778320185	203	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1320746067 CA354338044	204	Q>R		No	ClinGen gnomAD
CA83285693 rs899567669	205	M>I		No	ClinGen TOPMed
CA354338028 rs753694664	206	T>I		No	ClinGen ExAC gnomAD
CA2591460 rs753694664	206	T>K		No	ClinGen ExAC gnomAD
CA2591458 rs755896147	207	A>V		No	ClinGen ExAC gnomAD
CA83285664 rs750223105	208	G>R		No	ClinGen ExAC
CA2591457 rs750223105	208	G>S		No	ClinGen ExAC
TCGA novel	210	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767668365 CA83285657	213	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1399464204 CA354337984	213	I>T		No	ClinGen gnomAD
rs767668365 CA2591456	213	I>V		No	ClinGen ExAC TOPMed gnomAD
CA354337980 rs1374705812	214	G>A		No	ClinGen gnomAD
rs751617501 CA83285637	214	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1191312116 CA354337972	215	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2591452 rs377594542	219	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1211889706 TCGA novel CA354337938	220	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
TCGA novel	220	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	222	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372835137 CA2591451	222	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2591450 rs770430493	223	V>L		No	ClinGen ExAC TOPMed gnomAD
CA354337907 rs1259996837	224	L>F		No	ClinGen TOPMed
CA354337896 rs762189470	226	V>L		No	ClinGen ExAC TOPMed gnomAD
rs762189470 CA2591425	226	V>M		No	ClinGen ExAC TOPMed gnomAD
CA354337869 rs1240137413	230	A>T		No	ClinGen gnomAD
rs769677393 CA2591421	231	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2591420 rs781249685	231	R>H		No	ClinGen ExAC gnomAD
CA2591419 rs781249685	231	R>L		No	ClinGen ExAC gnomAD
rs769677393 CA2591422	231	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1224330578 CA354337861	232	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs574284072 CA83285417 COSM1291594 COSM1291595	232	R>W	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs369921888 CA2591418	236	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs150437149 CA2591416	237	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA2591414 rs150437149 RCV000892851	237	E>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP
rs558256936 CA83285383	238	D>Y		No	ClinGen Ensembl
rs1576726568 CA354337800	242	K>*		No	ClinGen Ensembl
TCGA novel rs1576726568 CA354337801	242	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs201324204 CA2591412	242	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1576726560 CA354337792	243	V>G		No	ClinGen Ensembl
CA83285369 rs1005222752	243	V>I		No	ClinGen Ensembl
rs755161441 CA2591411	244	F>L		No	ClinGen ExAC gnomAD
rs1306512121 CA354337772	246	T>I		No	ClinGen gnomAD
CA2591407 rs773636191	250	G>D		No	ClinGen ExAC gnomAD
CA354337753 rs760879046	250	G>R		No	ClinGen ExAC TOPMed gnomAD
rs760879046 CA2591408	250	G>S		No	ClinGen ExAC TOPMed gnomAD
rs140432607 CA2591405	251	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs146789283 CA2591404	252	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA354337740 rs1489636165	252	M>T		No	ClinGen gnomAD
rs769281867 CA2591403	257	A>V		No	ClinGen ExAC TOPMed gnomAD
rs537407699 CA2591401	258	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746736077 CA354337689	260	A>S		No	ClinGen ExAC gnomAD
rs746736077 CA2591399	260	A>T		No	ClinGen ExAC gnomAD
CA2591398 rs777657302	261	V>I		No	ClinGen ExAC gnomAD
rs377548715 CA2591396	263	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377548715 CA2591395	263	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755100274 CA354337667	264	G>E		No	ClinGen ExAC TOPMed gnomAD
rs755100274 CA2591394	264	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1005407219 CA83285298	264	G>W		No	ClinGen TOPMed
rs766734768 CA2591392	265	C>Y		No	ClinGen ExAC gnomAD
rs1375985129 CA354337655	266	I>T		No	ClinGen TOPMed
CA2591391 rs756666150	266	I>V		No	ClinGen ExAC gnomAD
rs199681251 CA83285272	267	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199681251 CA2591389	267	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2591387 rs752343192	268	V>L		No	ClinGen ExAC gnomAD
CA354337647 rs752343192	268	V>M		No	ClinGen ExAC gnomAD
rs200233135 CA2591386	269	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758990066 CA2591385	270	A>T		No	ClinGen ExAC TOPMed gnomAD
CA354337632 rs1370407124	271	E>K		No	ClinGen TOPMed
CA2591351 rs773192320	273	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	278	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373322766 CA2591349	280	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2591348 rs367879924	280	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2591347 rs367879924	280	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1244215238 CA354337546	281	H>Q		No	ClinGen TOPMed
rs1256876375 CA354337549	281	H>R		No	ClinGen gnomAD
rs993506480 CA83283926	282	R>G		No	ClinGen Ensembl
CA2591346 rs749493762	282	R>S		No	ClinGen ExAC gnomAD
rs769902998 CA2591344	284	G>S		No	ClinGen ExAC gnomAD
CA354337509 rs1487553345	287	M>I		No	ClinGen TOPMed
CA354337515 rs1285857009	287	M>L		No	ClinGen TOPMed
CA354337475 rs1422833934	292	S>N		No	ClinGen gnomAD
rs372290750 CA2591339 COSM1037768 COSM1593292	295	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2591338 rs139894266	295	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354337452 rs139894266	295	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1456431938 CA354337450	296	C>R		No	ClinGen gnomAD
rs1456431938 CA354337451	296	C>S		No	ClinGen gnomAD
CA83283875 rs991763719	298	Q>R		No	ClinGen TOPMed gnomAD
CA354337427 rs1237487920	299	R>K		No	ClinGen gnomAD
TCGA novel	299	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1576725089 CA354337414	301	R>K		No	ClinGen Ensembl
rs760915107 CA2591264	302	E>D		No	ClinGen ExAC gnomAD
CA354337024 rs1449930737	302	E>V		No	ClinGen TOPMed
CA2591263 rs770264011	303	A>P		No	ClinGen ExAC TOPMed gnomAD
rs558833391 CA2591262	305	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549226578 CA2591260	305	K>I		No	ClinGen 1000Genomes ExAC gnomAD
rs549226578 CA2591261	305	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA354337004 rs1286543358	306	K>E		No	ClinGen TOPMed
rs754361807	307	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA83279886 rs569784894	307	K>R		No	ClinGen Ensembl
TCGA novel	308	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763352174 CA2591257	309	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2591256 rs776029294	310	L>F		No	ClinGen ExAC
CA83276940 rs35062810 VAR_034001	311	S>T		No	ClinGen UniProt Ensembl dbSNP
rs770324286 CA2591255	312	L>F		No	ClinGen ExAC gnomAD
rs770324286 CA354336965	312	L>I		No	ClinGen ExAC gnomAD
rs941402672 CA354336960	313	G>R		No	ClinGen TOPMed
rs941402672 CA83276930	313	G>S		No	ClinGen TOPMed
rs570775584 CA83276929	314	Y>*		No	ClinGen Ensembl
CA354336941 rs1278517704	315	H>Q		No	ClinGen TOPMed
TCGA novel	316	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212646798 CA354336934	317	N>H		No	ClinGen TOPMed
rs372980229 CA2591252	317	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2591251 rs369354035	318	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA354336908 rs1224212283	321	L>F		No	ClinGen gnomAD
CA83276556 rs1047282243	323	E>D		No	ClinGen TOPMed
CA83276560 rs941614424	323	E>K		No	ClinGen Ensembl
rs768191810 CA2591224	324	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780022603 CA2591222	325	L>M		No	ClinGen ExAC gnomAD
rs781212470 CA354336856	328	E>*		No	ClinGen ExAC TOPMed gnomAD
rs781212470 COSM1143134 COSM581192 CA2591219	328	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA354336844 rs1386209319	329	L>F		No	ClinGen TOPMed
rs142914763 CA2591217	331	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1453146864 CA354336835	331	T>P		No	ClinGen gnomAD
rs148567215 CA2591215	332	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	333	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759765427 CA2591212	334	E>K		No	ClinGen ExAC gnomAD
rs1185508692 CA354336777	340	G>R		No	ClinGen gnomAD
CA354336770 rs1576721898	341	S>A		No	ClinGen Ensembl
rs1163641715 CA354336756	343	Q>*		No	ClinGen gnomAD
rs761492132 CA2591208	343	Q>R		No	ClinGen ExAC gnomAD
rs372747256 CA2591207	344	T>I		No	ClinGen ESP ExAC gnomAD
CA2591206 rs768138785	345	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs775338652 CA2591204	346	C>F		No	ClinGen ExAC gnomAD
TCGA novel	347	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354336732 rs1320360409	347	H>Y		No	ClinGen gnomAD
rs1293714150 CA354336725	348	N>D		No	ClinGen gnomAD
rs368704208 CA2591203	349	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781009916 CA2591201	350	F>L		No	ClinGen ExAC TOPMed gnomAD
rs770681158 CA2591200	351	N>H		No	ClinGen ExAC gnomAD
CA354336702 rs1332218559	351	N>S		No	ClinGen TOPMed gnomAD
COSM73212 rs778206383 CA2591199	353	G>S	ovary Variant assessed as Somatic; 0.0001386 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2591197 rs752834452	357	V>A		No	ClinGen ExAC TOPMed gnomAD
CA354336662 rs752834452	357	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1185040165 CA354336660	358	Q>K		No	ClinGen TOPMed
CA354336658 rs779509709	358	Q>P		No	ClinGen ExAC gnomAD
CA2591196 rs779509709	358	Q>R		No	ClinGen ExAC gnomAD
rs1211857311 CA354336654	359	L>F		No	ClinGen gnomAD
rs149908649 CA2591195	362	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs766747342 CA2591193	363	E>*		No	ClinGen ExAC gnomAD
TCGA novel	363	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2591192 rs761006188	364	A>S		No	ClinGen ExAC gnomAD
CA2591191 rs751211752	365	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1250455777 CA354336612	365	Q>R		No	ClinGen gnomAD
CA83276314 rs957520583	366	S>R		No	ClinGen TOPMed gnomAD
CA2591189 rs370883996	368	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2591190 rs370883996	368	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231484702 CA354336566	372	P>S		No	ClinGen TOPMed gnomAD
CA2591186 rs201344106	373	A>T		No	ClinGen ExAC gnomAD
rs750520612 CA83276298	374	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2591185 rs776489085	375	F>L		No	ClinGen ExAC gnomAD
TCGA novel	376	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770753240 CA2591184	379	V>G		No	ClinGen ExAC gnomAD
CA354336524 rs1394563001	379	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1458175586 CA354336513	380	Q>H		No	ClinGen gnomAD
rs867895079 CA83276278	382	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1219446945 CA354336486	382	S>R		No	ClinGen gnomAD
TCGA novel	383	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83275805 rs200612701	384	R>S		No	ClinGen 1000Genomes
CA2591163 rs774875224	384	R>T		No	ClinGen ExAC TOPMed
rs772028951 CA2591159	386	Q>P		No	ClinGen ExAC gnomAD
rs772028951 CA83275781	386	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	389	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281654748 CA354336426	392	R>K		No	ClinGen gnomAD
CA354336423 rs1404060498	392	R>S		No	ClinGen TOPMed gnomAD
CA354336420 rs1576721181	393	L>V		No	ClinGen Ensembl
CA2591156 rs768779703	395	E>A		No	ClinGen ExAC gnomAD
CA2591157 rs547424830	395	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1401864888 CA354336394	397	K>*		No	ClinGen gnomAD
rs1030602121 CA83275730	399	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1247125132 CA354336377	399	F>L		No	ClinGen TOPMed
rs780554161 CA2591152	402	D>V		No	ClinGen ExAC gnomAD
CA354336341 rs147353570	403	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1037765 CA354336337 rs1195858314 COSM1593294	404	G>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs746191901 CA2591150	404	G>S		No	ClinGen ExAC gnomAD
CA2591149 rs374349021	405	N>S		No	ClinGen ESP ExAC gnomAD
rs1261696861 CA354336327	406	A>T		No	ClinGen TOPMed gnomAD
rs757676146 CA2591148	407	F>L		No	ClinGen ExAC gnomAD
CA354336298 rs1223141027	410	E>A		No	ClinGen gnomAD
rs1318951815 CA354336295	410	E>D		No	ClinGen gnomAD
rs1004164987 CA83275704	411	A>G		No	ClinGen Ensembl
CA354336293 rs1392945547	411	A>S		No	ClinGen TOPMed
CA2591144 rs753307265	412	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs766295863 CA2591143	412	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA2591142 rs142723755	414	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354336257 rs1172740244	415	G>E		No	ClinGen TOPMed
rs773336510 CA2591141	415	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	416	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2591115 rs138921339	416	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA354336248 rs1426991973	417	D>H		No	ClinGen TOPMed gnomAD
CA354336249 rs1426991973	417	D>N		No	ClinGen TOPMed gnomAD
CA83275020 rs1033551905	418	V>M		No	ClinGen TOPMed gnomAD
rs757679109 CA2591113	420	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1420322198 CA354336219	421	K>*		No	ClinGen gnomAD
rs1420322198 CA354336220	421	K>E		No	ClinGen gnomAD
rs147228765 CA2591111	422	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA354336212 rs1296936864	422	G>R		No	ClinGen TOPMed
TCGA novel	422	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747355111 CA2591110	423	A>T		No	ClinGen ExAC gnomAD
rs1175621463 CA354336204	423	A>V		No	ClinGen gnomAD
CA2591109 rs567363832	424	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772531060 CA2591108	425	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	425	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1235955966 TCGA novel CA354336190	426	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs779922986 CA2591106	426	T>R		No	ClinGen ExAC gnomAD
rs1235955966 CA354336192	426	T>S		No	ClinGen TOPMed
CA2591104 rs749968425	427	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs757174717 CA2591102	428	F>S		No	ClinGen ExAC gnomAD
CA354336179 rs1576720437	428	F>V		No	ClinGen Ensembl
CA2591100 RCV000975008 VAR_042732 rs9871671	429	R>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354336172 rs9871671	429	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2591099 RCV000419129 rs201724997	429	R>H		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1284839633 CA354336166	430	Y>C		No	ClinGen gnomAD
CA354336165 rs1284839633	430	Y>S		No	ClinGen gnomAD
CA354336160 rs1407097136	431	P>A		No	ClinGen TOPMed gnomAD
rs1407097136 CA354336161	431	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs765456633 CA2591097	433	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs765456633 CA2591098	433	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs148040497 CA2591096	434	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA354336138 rs1347523511	435	Q>*		No	ClinGen gnomAD
rs369243226 CA354336134	435	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369243226 CA2591095	435	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs377507830 CA2591094	436	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs773824072 CA2591092	439	G>E		No	ClinGen ExAC TOPMed gnomAD
CA83274025 rs112110157	440	D>G		No	ClinGen Ensembl
rs1298986279 CA354336090	440	D>H		No	ClinGen gnomAD
TCGA novel	441	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463279863 CA354336084	441	I>V		No	ClinGen gnomAD
COSM1231900 CA354336071 COSM1231899 CA354336072 rs1352547421	442	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2591064 rs758391330	443	S>F		No	ClinGen ExAC gnomAD
rs1445155004 CA354336060	444	Q>L		No	ClinGen TOPMed gnomAD
CA354336061 rs1445155004	444	Q>R		No	ClinGen TOPMed gnomAD
CA83274011 rs868528337	445	G>R		No	ClinGen Ensembl
CA83273997 rs748121358	448	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2591063 rs748121358	448	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2591062 COSM1471585 COSM1471586 rs200384323	450	R>H	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs200384323 CA354336023	450	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2591061 rs754051123	451	W>C		No	ClinGen ExAC gnomAD
CA354336014 rs1560120599	452	V>M		No	ClinGen Ensembl
rs756093885 CA2591058	454	T>P		No	ClinGen ExAC TOPMed gnomAD
CA354335992 rs1376449720	455	S>L		No	ClinGen TOPMed
rs767874554 CA2591056	456	G>E		No	ClinGen ExAC
CA354335982 rs1576719295	457	D>A		No	ClinGen Ensembl
CA2591055 rs762380311	457	D>N		No	ClinGen ExAC TOPMed gnomAD
rs775049475 CA354335976	458	P>S		No	ClinGen ExAC gnomAD
rs775049475 CA2591054	458	P>T		No	ClinGen ExAC gnomAD
CA354335961 rs1560120477	460	D>A		No	ClinGen Ensembl
CA354335960 rs1560120477	460	D>G		No	ClinGen Ensembl
CA2591051 rs763479378	462	A>V		No	ClinGen ExAC TOPMed gnomAD
CA354335945 rs1180101022	463	V>D		No	ClinGen TOPMed
rs746460687 CA2591048	463	V>F		No	ClinGen ExAC TOPMed gnomAD
rs746460687 CA2591049	463	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	463	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371652976 CA2591046	465	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2591045 rs748062132	466	E>K		No	ClinGen ExAC TOPMed gnomAD
CA83273896 rs748062132	466	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs778885525 CA2591044	468	A>D		No	ClinGen ExAC TOPMed gnomAD
rs778885525 CA354335914	468	A>V		No	ClinGen ExAC TOPMed gnomAD
CA354335909 rs1423389103	469	T>I		No	ClinGen gnomAD
rs1249436745 CA354335898	471	V>A		No	ClinGen TOPMed gnomAD
CA2591042 rs749099363	471	V>M		No	ClinGen ExAC gnomAD
CA354335892 rs1490622200	472	L>R		No	ClinGen gnomAD
rs1560120387 CA354335887	473	E>G		No	ClinGen Ensembl
rs780092716 CA2591041	474	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2591040 rs141251835	475	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs879460672 CA83273843	475	A>V		No	ClinGen Ensembl
CA2591039 rs750652507	476	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2591018 rs757340861	480	V>A		No	ClinGen ExAC gnomAD
CA83273829 rs201153684	480	V>L		No	ClinGen Ensembl
CA2591016 rs62264732	483	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758940505 CA2591015	484	V>A		No	ClinGen ExAC gnomAD
rs750847739 CA83272383	484	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs540495239 CA2591013	489	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA83272358 rs1038151162	489	M>R		No	ClinGen TOPMed
rs1038151162 CA83272360	489	M>T		No	ClinGen TOPMed
CA354335776 rs1445549528	489	M>V		No	ClinGen TOPMed
rs767173592 CA354335759	490	D>E		No	ClinGen ExAC gnomAD
CA2591011 rs750021735	490	D>G		No	ClinGen ExAC gnomAD
rs759882583 CA354335767	490	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2591009 rs377549414	491	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA354335732 rs1315109077	492	I>T		No	ClinGen gnomAD
rs199880733 CA2591007	493	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762927115 CA2591006	493	R>H		No	ClinGen ExAC TOPMed gnomAD
CA354335722 rs762927115	493	R>L		No	ClinGen ExAC TOPMed gnomAD
rs199880733 CA354335726	493	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1335697760 CA354335710	494	W>*		No	ClinGen TOPMed gnomAD
CA354335688 rs1397656498	495	I>M		No	ClinGen gnomAD
CA354335691 rs1414202773	495	I>N		No	ClinGen gnomAD
CA2591005 rs762174555	496	R>G		No	ClinGen ExAC gnomAD
CA2591003 rs75603988 RCV000961473	496	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2591004 rs762174555	496	R>W		No	ClinGen ExAC gnomAD
CA2591002 rs140532409	497	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA354335660 rs1446548997	498	A>T		No	ClinGen gnomAD
CA2591000 rs374552890	498	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs748680790 CA2590998	499	A>P		No	ClinGen ExAC TOPMed gnomAD
rs748680790 CA2590997	499	A>T		No	ClinGen ExAC TOPMed gnomAD
rs779289561 CA2590996	499	A>V		No	ClinGen ExAC TOPMed gnomAD
rs371374043 CA2590994	500	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1292449123 CA354335633	500	R>S		No	ClinGen TOPMed gnomAD
rs142539456 CA2590992	502	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2590993 rs767118596	502	R>W		No	ClinGen ExAC TOPMed gnomAD
CA354335280 rs1374035354	505	V>G		No	ClinGen TOPMed
TCGA novel	506	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354335258 rs1489832281	509	A>T		No	ClinGen gnomAD
CA2590968 rs776766225	511	I>V		No	ClinGen ExAC TOPMed gnomAD
rs369284359 CA83270390	515	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1439443573 CA354335209	516	Q>H		No	ClinGen TOPMed
rs760546560 CA2590966	516	Q>R		No	ClinGen ExAC gnomAD
CA354335197 rs1244390072	518	G>S		No	ClinGen Ensembl
CA354335194 rs1227394993	518	G>V		No	ClinGen gnomAD
CA2590965 rs201269614	519	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs772203712 CA2590964	519	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1274798019 CA354335187	520	V>A		No	ClinGen TOPMed gnomAD
rs374247096 CA354335189	520	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2590963 rs374247096 COSM203479	520	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	521	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774267003 CA2590962	521	A>V		No	ClinGen ExAC gnomAD
rs1028662513 CA83270370	522	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2590960 rs202042371	523	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202042371 CA354335173	523	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202042371 CA2590961	523	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	525	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83270339 rs1050582350	529	A>T		No	ClinGen Ensembl
rs1456898130 CA354335130	529	A>V		No	ClinGen gnomAD
rs746246948 CA354335124	530	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2590958 rs369572477	530	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA354335128 rs1178283300	530	I>V		No	ClinGen gnomAD
CA354335122 rs35516512	531	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000967832 rs35516512 CA2590956	531	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1593297 rs1308061173 CA354335115 COSM1037761	532	C>Y	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1174624941 CA354335108	533	R>K		No	ClinGen TOPMed
CA354335099 rs1239849017	534	R>M		No	ClinGen gnomAD
TCGA novel	536	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371222476 CA2590933	537	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1744703 rs376841069 COSM1744702 CA2590932	538	P>L	biliary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2590930 rs767207719	539	V>L		No	ClinGen ExAC TOPMed gnomAD
rs574614157 CA354334672	540	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs574614157 CA2590929	540	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2590928 rs751667164	542	S>N		No	ClinGen ExAC TOPMed gnomAD
CA354334658 rs1199524666	542	S>R		No	ClinGen TOPMed
CA2590927 rs764391418	543	R>*		No	ClinGen ExAC gnomAD
rs762973643 CA2590926	543	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2590925 rs775579924	544	D>G		No	ClinGen ExAC gnomAD
rs769909802 CA2590924	545	H>R		No	ClinGen ExAC gnomAD
CA2590923 rs760021919	546	H>N		No	ClinGen ExAC gnomAD
CA354334638 rs760021919	546	H>Y		No	ClinGen ExAC gnomAD
CA2590922 rs199637482	547	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773821871 CA2590920	548	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773821871 CA2590919	548	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2590918 rs368108422	549	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs373958192 CA83268718	550	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs755746087 COSM169291 CA2590915	552	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA354334602 rs755746087	552	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA354334593 rs1560116392	553	S>N		No	ClinGen Ensembl
rs1367426983 CA354334596	553	S>R		No	ClinGen gnomAD
rs781194422 CA2590914	554	P>H		No	ClinGen ExAC gnomAD
rs781194422 CA2590913	554	P>R		No	ClinGen ExAC gnomAD
rs756944014 CA2590912	558	T>N		No	ClinGen ExAC TOPMed gnomAD
CA354334552 rs1363966368	559	S>Y		No	ClinGen TOPMed gnomAD
CA2590910 rs764263682	561	I>T		No	ClinGen ExAC gnomAD
rs372570937 COSM1418649 COSM1418648 CA2590908	563	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2590906 rs144114875	564	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1208090936 CA354334489	568	C>F		No	ClinGen TOPMed gnomAD
CA354334491 rs1208090936	568	C>Y		No	ClinGen TOPMed gnomAD
rs372699269 CA83268685	569	A>E		No	ClinGen ExAC gnomAD
rs372699269 CA2590905	569	A>V		No	ClinGen ExAC gnomAD
rs766927498 CA2590904	570	D>N		No	ClinGen ExAC gnomAD
rs753979366 CA2590888	571	M>T		No	ClinGen ExAC TOPMed gnomAD
CA354334245 rs1363952843	572	A>T		No	ClinGen gnomAD
CA2590887 rs766406934	573	V>A		No	ClinGen ExAC TOPMed gnomAD
CA354334227 rs766406934	573	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1576710954 CA354334210	574	Q>R		No	ClinGen Ensembl
TCGA novel	576	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1171247652 CA354334179	577	V>A		No	ClinGen gnomAD
rs773916999 CA83268185	577	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2590885 rs773916999	577	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs202155267 CA83268182	579	D>N		No	ClinGen 1000Genomes
CA354334160 rs1465957358	580	A>D		No	ClinGen gnomAD
CA2590883 rs762276275	581	C>S		No	ClinGen ExAC gnomAD
CA2590882 rs199874583 COSM172790	582	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758929808 CA2590881 COSM1471587 COSM1471588	582	R>H	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs758929808 CA2590880	582	R>L		No	ClinGen ExAC TOPMed gnomAD
CA354334146 rs369953230	583	G>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs369953230 CA2590878	583	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA354334138 rs537635131	584	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2590877 rs537635131	584	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	586	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777691085 CA2590876	586	W>S		No	ClinGen ExAC gnomAD
rs771796599 CA2590875	587	V>I		No	ClinGen ExAC gnomAD
CA2590874 rs747955739	588	A>T		No	ClinGen ExAC TOPMed gnomAD
CA354334114 rs1340852796	588	A>V		No	ClinGen gnomAD
CA2590873 rs779063574	589	L>F		No	ClinGen ExAC gnomAD
rs1282855827 CA354334110	589	L>P		No	ClinGen TOPMed
TCGA novel	590	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754054129 CA2590871	592	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs150770424 CA2590869	595	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354333616 rs1179806604	598	G>C		No	ClinGen gnomAD
CA354333614 rs1008268643	598	G>D		No	ClinGen TOPMed gnomAD
rs1008268643 CA83259794	598	G>V		No	ClinGen TOPMed gnomAD
rs757809401 CA2590849	599	E>K		No	ClinGen ExAC gnomAD
COSM3673830 rs763877001 CA83259776 COSM3673829	600	V>A	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2590847 rs763877001	600	V>G		No	ClinGen ExAC TOPMed gnomAD
rs752162144 CA2590848	600	V>M		No	ClinGen ExAC gnomAD
CA354333557 rs138856930	602	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA354333563 rs1205348607	602	N>S		No	ClinGen gnomAD
rs145069129 CA2590845 COSM249707 COSM4149624	603	G>R	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs145069129 CA83259762	603	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs760134412 COSM1143127 CA2590844 COSM581199	604	G>A	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760134412 CA83259755	604	G>E		No	ClinGen ExAC TOPMed gnomAD
rs760134412 CA2590843	604	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1275979460 CA354333538	605	F>I		No	ClinGen gnomAD
CA354333521 rs560289494	606	G>C		No	ClinGen gnomAD
CA354333519 rs1323047372	606	G>D		No	ClinGen gnomAD
CA83259744 rs560289494	606	G>S		No	ClinGen gnomAD
rs372369120 CA83259731	608	V>E		No	ClinGen ESP
CA2590839 rs375611196	608	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs545914298 CA354333470	610	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138713416 CA2590837	610	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770171269 CA2590835	611	G>S		No	ClinGen ExAC TOPMed gnomAD
rs540556859 CA2590833	613	P>L		No	ClinGen ExAC TOPMed gnomAD
rs540556859 CA2590834	613	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1207156496 CA354333416	615	A>S		No	ClinGen gnomAD
rs747452050 CA2590832	616	E>K		No	ClinGen ExAC TOPMed gnomAD
rs778154563 CA2590831	617	G>V		No	ClinGen ExAC gnomAD
CA354333366 rs560314285	619	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1156364496 CA354333372	619	A>P		No	ClinGen gnomAD
rs560314285 CA2590830	619	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2590829 rs753035060	620	R>G		No	ClinGen ExAC gnomAD
rs765670557 CA2590828	621	L>V		No	ClinGen ExAC gnomAD
TCGA novel	623	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs938044903 CA83259662	624	S>N		No	ClinGen TOPMed
CA2590827 rs755738291	625	W>G		No	ClinGen ExAC TOPMed gnomAD
CA354333285 rs1412657820	626	D>N		No	ClinGen gnomAD
rs1424414239 CA354333246	628	S>F		No	ClinGen gnomAD
rs368628878 CA354333233	629	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368628878 CA2590826	629	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1411566085 CA354333173	631	V>M		No	ClinGen gnomAD
rs759415563 CA2590798	632	A>P		No	ClinGen ExAC TOPMed gnomAD
CA354333163 rs1191072795	632	A>V		No	ClinGen TOPMed
rs374958655 CA2590796	633	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2590797 rs776940528	633	R>W		No	ClinGen ExAC TOPMed gnomAD
rs576157581 CA2590794	634	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs954004056 CA83259172	634	R>H		No	ClinGen TOPMed gnomAD
CA354333130 rs748597968	638	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2590792 rs748597968	638	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2590793 rs772251249	638	G>W		No	ClinGen ExAC
rs554807354 CA83259161	639	N>D		No	ClinGen TOPMed
CA83259157 rs138228816	641	K>Q		No	ClinGen ESP
CA2590789 rs143795787	642	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354333096 rs1204454639	643	Y>*		No	ClinGen TOPMed gnomAD
rs149008130 CA2590788 RCV000898691	643	Y>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354333092 rs1488851821	644	E>*		No	ClinGen gnomAD
rs1164121373 CA354333091	644	E>A		No	ClinGen gnomAD
CA354333073 rs1215281266	646	I>M		No	ClinGen TOPMed
CA2590784 rs757996376	650	M>I		No	ClinGen ExAC gnomAD
CA354333046 rs1320500921	650	M>R		No	ClinGen TOPMed
rs777138050 CA2590785	650	M>V		No	ClinGen ExAC gnomAD
rs752516208 CA2590783	651	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1386778336 CA354332997	657	V>L		No	ClinGen TOPMed gnomAD
CA354332999 rs1386778336	657	V>M		No	ClinGen TOPMed gnomAD
rs753650561 CA83259062	662	H>Q		No	ClinGen ExAC gnomAD
CA2590779 rs766325826	663	K>E		No	ClinGen ExAC gnomAD
rs1034983768 CA83259042	664	V>A		No	ClinGen TOPMed
rs771977054 CA2590778 CA2590777	664	V>L		No	ClinGen ExAC gnomAD
rs771977054 CA2590776	664	V>M		No	ClinGen ExAC gnomAD
CA2590774 rs774792576	665	E>G		No	ClinGen ExAC gnomAD
rs761968488 CA2590775	665	E>K		No	ClinGen ExAC gnomAD
CA354332888 rs199712731	666	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1181715821 CA354332901	666	D>N		No	ClinGen gnomAD
rs202033813 CA2590771	667	E>K		No	ClinGen ExAC gnomAD
rs202033813 CA2590772	667	E>Q		No	ClinGen ExAC gnomAD
rs530723506 CA83259020	668	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs530723506 CA2590769	668	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA354332867 rs530723506	668	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA2590770 rs550425741	668	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2590768 rs765992522	670	L>I		No	ClinGen ExAC TOPMed gnomAD
CA83259009 rs905411539	672	Q>H		No	ClinGen Ensembl
rs757795630 CA2590767	676	L>F		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with Q96N76

[MIM: 276880]: Urocanase deficiency (UROCD)

An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including intellectual disability, ataxia, episodic aggressive behavior or exaggerated affection-seeking. {ECO:0000269|PubMed:19304569}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including intellectual disability, ataxia, episodic aggressive behavior or exaggerated affection-seeking. {ECO:0000269|PubMed:19304569}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q96N76

Type	Name	Position	InterPro Accession
conserved_site	Urocanase conserved site	543 - 558	IPR023636
domain	Urocanase, Rossmann-like domain	214 - 437	IPR035085
domain	Urocanase, N-terminal domain	85 - 211	IPR035400
domain	Urocanase, C-terminal domain	440 - 646	IPR035401

Functions

		Description
EC Number	4.2.1.49	Hydro-lyases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

1 GO annotations of molecular function

Name	Definition
urocanate hydratase activity	Catalysis of the reaction: 4-imidazolone-5-propanoate + H(+) = trans-urocanate + H(2)O.

3 GO annotations of biological process

Name	Definition
histidine catabolic process	The chemical reactions and pathways resulting in the breakdown of histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid.
histidine catabolic process to glutamate and formamide	The chemical reactions and pathways resulting in the breakdown of histidine into other compounds, including glutamate and formamide.
histidine catabolic process to glutamate and formate	The chemical reactions and pathways resulting in the breakdown of histidine into other compounds, including glutamate and formate.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8VC12	Uroc1	Urocanate hydratase	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSSLQALCSG	LPLRPLPENR	GRQAGVPHAP	VRTPSLSPVE	KQLALRNALR	YFPPDVQELL
70	80	90	100	110	120
APEFAQELQL	YGHIYMYRFC	PDIEMRAYPI	EQYPCQTKVA	AAIMHMIMNN	LDPAVAQFPQ
130	140	150	160	170	180
ELVTYGGNGQ	VFSNWAQFWL	TMFYLSKMTE	EQTLVMYSGH	PLGLFPSSRS	APRLVITNGM
190	200	210	220	230	240
VIPNYSSRTE	YEKLFALGVT	MYGQMTAGSY	CYIGPQGIVH	GTVLTVLNAA	RRYLGIEDLA
250	260	270	280	290	300
GKVFVTSGLG	GMSGAQAKAA	VIVGCIGVIA	EVDKAALEKR	HRQGWLMEVT	DSLDRCIQRL
310	320	330	340	350	360
REARKKKEVL	SLGYHGNVVA	LWERLVHELD	TTGECLVDLG	SDQTSCHNPF	NGGYYPVQLS
370	380	390	400	410	420
FTEAQSLMAS	NPAVFKDLVQ	ESLRRQVSAI	NRLAEEKFFF	WDYGNAFLLE	AQRAGADVEK
430	440	450	460	470	480
KGAGRTEFRY	PSYVQHIMGD	IFSQGFGPFR	WVCTSGDPQD	LAVTDELATS	VLEEAIADGV
490	500	510	520	530	540
KVSVKLQYMD	NIRWIREAAR	HRLVVGSQAR	ILYSDQKGRV	AIAVAINQAI	ACRRIKAPVV
550	560	570	580	590	600
LSRDHHDVSG	TDSPFRETSN	IYDGSAFCAD	MAVQNFVGDA	CRGATWVALH	NGGGVGWGEV
610	620	630	640	650	660
INGGFGLVLD	GTPEAEGRAR	LMLSWDVSNG	VARRCWSGNQ	KAYEIICQTM	QENSTLVVTL
670
PHKVEDERVL	QQALQL