AiPD: Autoinhibited Protein Database

P19113

Gene name	HDC
Protein name	Histidine decarboxylase
Names	HDC
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3067
EC number	4.1.1.22: Carboxy-lyases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

4-79 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

4-79 (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

5 structures for P19113

Entry ID	Method	Resolution	Chain	Position	Source
4E1O	X-ray	180 A	A/B/C/D/E/F	2-477	PDB
7EIW	X-ray	210 A	A/B	2-477	PDB
7EIX	X-ray	190 A	A/B	2-477	PDB
7EIY	X-ray	220 A	A/B	2-477	PDB
AF-P19113-F1	Predicted				AlphaFoldDB

496 variants for P19113

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000016047 CA257397 rs267606861	317	W>*	Tourette syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA392377905 RCV001335910 rs750738762	504	T>K	Tourette syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs758807969 CA7555008	2	M>I		No	ClinGen ExAC TOPMed gnomAD
rs372936445 CA7555009	2	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392384588 rs1237186677	2	M>T		No	ClinGen TOPMed gnomAD
rs1264102414 CA392384568	3	E>D		No	ClinGen TOPMed gnomAD
CA392384572 rs1459387289	3	E>V		No	ClinGen gnomAD
rs919567000 CA270436224	4	P>T		No	ClinGen gnomAD
rs557594582 CA7555006 CA7555005	6	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1221255424 CA392384532	6	E>G		No	ClinGen gnomAD
CA392384539 rs1161700056	6	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs564770181 CA7555004	7	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs150195640 CA7555002	8	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs751474557 CA7555001	10	R>T		No	ClinGen ExAC gnomAD
rs999063311 CA270433924	12	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	13	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202209022 CA392383967	15	V>M		No	ClinGen TOPMed
rs754369996 CA7554980	16	D>Y		No	ClinGen ExAC
rs1264509932 CA392383930	18	I>V		No	ClinGen gnomAD
CA392383906 rs1482277416	19	C>F		No	ClinGen TOPMed gnomAD
rs1482277416 CA392383908	19	C>S		No	ClinGen TOPMed gnomAD
CA392383869 rs1442330148	22	L>P		No	ClinGen TOPMed
rs1285000230 CA392383855	23	S>N		No	ClinGen gnomAD
rs753478644 CA7554977	25	V>M		No	ClinGen ExAC gnomAD
rs760172931 CA7554975	26	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA270433895 rs768687991	26	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA392383821 rs1169074738	27	E>D		No	ClinGen gnomAD
rs1360506689 CA392383824	27	E>G		No	ClinGen gnomAD
CA392383826 rs1466280072	27	E>Q		No	ClinGen gnomAD
rs151062621 CA7554974	29	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7554973 rs751179409	29	R>H		No	ClinGen ExAC TOPMed gnomAD
VAR_048873 CA7554972 rs17740607	31	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA392383798 rs17740607	31	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392383800 rs1304055904	31	T>S		No	ClinGen TOPMed
CA7554970 rs771310003	32	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7554967 rs769903015	34	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750405599 COSM168460 CA7554963	40	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750405599 CA392383746	40	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7554962 rs146730064	40	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1311444322 CA392383729	43	L>M		No	ClinGen gnomAD
CA270433807 rs764835512	45	E>K		No	ClinGen Ensembl
rs757038021 CA7554961	46	S>N		No	ClinGen ExAC TOPMed gnomAD
CA270433794 rs958926266	47	A>P		No	ClinGen Ensembl
rs753520294 CA7554960	47	A>V		No	ClinGen ExAC gnomAD
TCGA novel	49	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_036470	49	E>V	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
CA7554959 rs763716383	50	D>A		No	ClinGen ExAC TOPMed gnomAD
rs1401414690 CA392383681	50	D>E		No	ClinGen gnomAD
CA392383674 rs1173241935	51	P>L		No	ClinGen gnomAD
TCGA novel	52	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7554957 rs752138845	52	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	54	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392383650 rs1193352247	54	W>C		No	ClinGen TOPMed
CA392383645 rs1188401791	55	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	56	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392383637 rs1426352343	56	S>N		No	ClinGen TOPMed
CA7554956 rs767048830	58	F>S		No	ClinGen ExAC gnomAD
CA7554954 rs761793865	61	I>T		No	ClinGen ExAC TOPMed gnomAD
rs773638414 COSM3386922 CA7554951	63	R>*	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7554950 rs769839707	63	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA270433746 rs1025616811	64	I>S		No	ClinGen Ensembl
CA392383570 rs1171710102	66	M>I		No	ClinGen TOPMed
CA7554949 rs748410745	66	M>V		No	ClinGen ExAC gnomAD
CA392383564 rs1244886074	67	P>L		No	ClinGen gnomAD
rs1306653916	68	G>=	Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs1407352313 CA392383307	69	V>M		No	ClinGen gnomAD
rs1405335125 CA392383291	70	V>A		No	ClinGen TOPMed
TCGA novel	74	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7554928 CA392383181 rs777030044	74	S>R		No	ClinGen ExAC TOPMed gnomAD
CA392383188 rs1467753232	74	S>T		No	ClinGen TOPMed
CA7554925 rs201907439	79	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	86	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	86	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7554921 rs563105054	88	P>R		No	ClinGen 1000Genomes ExAC TOPMed
rs777385565 CA7554922	88	P>S		No	ClinGen ExAC TOPMed gnomAD
rs34505468 CA270429241	91	L>I		No	ClinGen Ensembl
TCGA novel	92	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215274893 CA392382906	94	M>V		No	ClinGen gnomAD
CA392382843 rs1198322537	98	A>S		No	ClinGen gnomAD
TCGA novel	98	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751002474 CA7554917	99	I>T		No	ClinGen ExAC gnomAD
rs138934117 CA7554916	100	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7554914 rs138934117	100	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138934117 CA7554915	100	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7554913 rs544960069	102	L>V		No	ClinGen ExAC TOPMed gnomAD
CA392382766 rs1595709999	105	T>P		No	ClinGen Ensembl
rs762333131 CA7554912	105	T>S		No	ClinGen ExAC gnomAD
CA392382724 rs1410506324	108	S>A		No	ClinGen gnomAD
rs753017067 CA7554891	109	S>N		No	ClinGen ExAC gnomAD
CA7554890 rs201124926	111	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393684396 CA392382688	113	T>I		No	ClinGen TOPMed
rs923688180 CA270428249	115	L>Q		No	ClinGen TOPMed
rs1315288643 CA392382661	117	M>I		No	ClinGen TOPMed
CA270428237 rs957751058	119	V>A		No	ClinGen gnomAD
rs143849528 CA7554886	119	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs946556520 CA270428226	120	M>R		No	ClinGen TOPMed
CA392382633 rs1288277759	121	D>V		No	ClinGen gnomAD
CA392382630 rs1357094872	122	W>R		No	ClinGen gnomAD
rs1317457539 CA392382612	124	A>S		No	ClinGen TOPMed gnomAD
rs1444905329 CA392382600	126	M>L		No	ClinGen gnomAD
CA7554884 rs768488249	127	L>Q		No	ClinGen ExAC gnomAD
CA392382580 rs1330505497	129	L>I		No	ClinGen gnomAD
rs371786661 CA392382563	131	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442650456 CA392382569	131	E>K		No	ClinGen gnomAD
CA392382558 rs1162524971	132	H>R		No	ClinGen gnomAD
rs991148658 CA270428179	132	H>Y		No	ClinGen TOPMed
TCGA novel	133	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392382535 rs1385366348	135	H>R		No	ClinGen gnomAD
rs1404279453 CA392382537	135	H>Y		No	ClinGen gnomAD
CA7554882 rs779819166	136	H>N		No	ClinGen ExAC gnomAD
CA7554881 rs771467751	137	H>D		No	ClinGen ExAC TOPMed gnomAD
CA270428134 rs999335585	138	P>A		No	ClinGen TOPMed gnomAD
rs1481784417 CA392382511	139	S>G		No	ClinGen gnomAD
rs149875043 CA7554879	139	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA392382483 rs1490650265	143	G>R		No	ClinGen gnomAD
rs754422633 CA7554877	145	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1224136151 CA392382457	147	Q>R		No	ClinGen gnomAD
TCGA novel	148	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7554850 rs751827833 COSM256158	149	T>M	Variant assessed as Somatic; 9.24e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7554851 rs751827833	149	T>R		No	ClinGen ExAC TOPMed gnomAD
CA392382076 rs1432093196	151	S>N		No	ClinGen gnomAD
rs1477551448 CA392382043	156	I>V		No	ClinGen gnomAD
CA392382032 rs1402027198	157	A>V		No	ClinGen gnomAD
CA7554847 rs753757813	160	A>V		No	ClinGen ExAC gnomAD
rs1188351365 CA392382013	161	A>E		No	ClinGen gnomAD
rs763958975 CA7554846	162	R>K		No	ClinGen ExAC gnomAD
rs1255568371 CA392381970	167	L>P		No	ClinGen gnomAD
CA392381966 rs1202800858	168	E>Q		No	ClinGen TOPMed gnomAD
CA7554843 rs536269902	169	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA7554844 rs770752888	169	M>V		No	ClinGen ExAC TOPMed gnomAD
rs759209383 CA7554842	171	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA270425245 rs370679774	171	T>P		No	ClinGen Ensembl
CA392381935 rs1383401679	173	E>Q		No	ClinGen gnomAD
CA392381927 rs1376537758	174	P>T		No	ClinGen TOPMed gnomAD
CA7554838 rs190015441	175	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748624520 CA7554836	176	A>T		No	ClinGen ExAC gnomAD
rs781596252 CA7554835	177	D>E		No	ClinGen ExAC gnomAD
CA392381897 rs1334335115	178	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1284847971 CA392381901	178	E>K		No	ClinGen TOPMed
rs550968265 CA270425176	179	S>F		No	ClinGen Ensembl
CA392381860 rs1422060543	184	R>*	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7554833 rs747227627	184	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780307521 CA392381856	185	L>F		No	ClinGen ExAC TOPMed gnomAD
rs780307521 CA7554832	185	L>I		No	ClinGen ExAC TOPMed gnomAD
CA7554830 rs758629922	186	V>M		No	ClinGen ExAC TOPMed gnomAD
CA392381842 rs1338733010	187	A>V		No	ClinGen gnomAD
rs1188561492 CA392381818	190	S>A		No	ClinGen gnomAD
TCGA novel	193	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392381621 rs181713189	198	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181713189 CA7554803	198	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762670331 CA7554802	199	K>M		No	ClinGen ExAC gnomAD
rs369160695 CA7554801	200	A>P		No	ClinGen ESP ExAC gnomAD
rs764798779 CA7554800	206	V>M		No	ClinGen ExAC gnomAD
CA270424634 rs755149141	212	P>L		No	ClinGen Ensembl
rs776214133 CA7554798	213	V>M		No	ClinGen ExAC gnomAD
CA7554797 rs761199216	215	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1288124934 CA392381253	216	N>D		No	ClinGen TOPMed
rs775780391 CA7554795	219	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1350902290 CA392381182	220	R>*		No	ClinGen TOPMed gnomAD
CA7554794 rs772476286	220	R>Q	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA270424612 rs1049341617	222	E>K		No	ClinGen Ensembl
TCGA novel	227	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270424595 rs867414908	229	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs535880699 CA270424593	231	D>E		No	ClinGen Ensembl
CA7554791 rs376573427	233	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs777913889 CA7554790	234	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7554788 rs754928207	234	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs777913889 CA7554789	234	R>W		No	ClinGen ExAC TOPMed gnomAD
CA392380860 rs1387392968	235	G>D		No	ClinGen gnomAD
rs746967529 CA7554787	236	L>F		No	ClinGen ExAC gnomAD
CA392380840 rs1467988358	237	V>L		No	ClinGen gnomAD
CA7554785 rs758334668	239	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392380812 rs758334668	239	V>L		No	ClinGen ExAC TOPMed gnomAD
CA392380717 rs1445486385	241	V>A		No	ClinGen TOPMed
rs142761358 CA392380696	243	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA7554760 rs142761358	243	A>V		No	ClinGen ESP ExAC gnomAD
COSM701096 rs767958947 CA7554758	247	T>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs376350679 CA7554757	248	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7554755 rs766790335	250	V>F		No	ClinGen ExAC gnomAD
CA392380600 rs1393228312	252	A>T		No	ClinGen TOPMed
rs763065285 CA7554754	253	F>L		No	ClinGen ExAC gnomAD
CA7554753 rs773633332	255	C>Y		No	ClinGen ExAC gnomAD
CA392380510 rs1177786838	263	C>W		No	ClinGen gnomAD
rs1379962071 CA392380509	264	A>S		No	ClinGen TOPMed gnomAD
CA392380505 rs1274259699	264	A>V		No	ClinGen TOPMed
rs200711064 CA7554721	265	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200711064 CA7554722	265	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM272765 rs138457034 CA7554720	265	R>H	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs138457034 CA7554719	265	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392380502 rs138457034	265	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433365377 CA392380494	266	E>D		No	ClinGen gnomAD
rs1187431034 CA392380490	267	G>E		No	ClinGen TOPMed
rs899820647 CA270423172	270	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs765719055 CA7554718	272	I>V		No	ClinGen ExAC TOPMed gnomAD
CA392380435 rs1420516350	275	A>V		No	ClinGen gnomAD
CA7554714 rs760867913	279	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7554713 rs775446332	282	L>V		No	ClinGen ExAC gnomAD
rs141554251 CA270423143	284	P>T		No	ClinGen ESP TOPMed gnomAD
CA392380376 VAR_036471 rs1353958864 COSM32362	285	E>K	large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt dbSNP gnomAD
rs935621896 CA7554708	287	R>Q		No	ClinGen TOPMed
rs772945540 CA7554710	287	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392380344 rs747771158	288	G>E		No	ClinGen ExAC gnomAD
CA7554707 rs769628634	288	G>R		No	ClinGen ExAC gnomAD
CA7554706 rs747771158	288	G>V		No	ClinGen ExAC gnomAD
CA270423087 rs368742064	297	D>N		No	ClinGen ESP gnomAD
CA392380187 rs1296902161	300	T>A		No	ClinGen gnomAD
CA7554703 rs746458779	300	T>I		No	ClinGen ExAC gnomAD
rs1296902161 CA392380185	300	T>P		No	ClinGen gnomAD
CA7554702 rs779457572	303	P>S		No	ClinGen ExAC TOPMed gnomAD
CA392380123 rs1226811911	305	K>N		No	ClinGen TOPMed
rs758925585 CA7554701	307	M>L		No	ClinGen ExAC gnomAD
rs746425775 CA7554700	308	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392380074 rs1348632196	309	V>M		No	ClinGen TOPMed
CA392380058 rs1384771347	310	H>R		No	ClinGen gnomAD
rs779388053 CA7554699	311	F>L		No	ClinGen ExAC gnomAD
CA392380028 rs757760566	312	D>A		No	ClinGen ExAC
rs757760566 CA7554698	312	D>G		No	ClinGen ExAC
CA392380019 rs947052592	313	C>R		No	ClinGen TOPMed
rs377311498 CA7554697 COSM555256	313	C>S	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA270423045 rs947052592 COSM555256	313	C>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs377311498 CA7554696	313	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA392380001 rs1480255442	314	T>I		No	ClinGen gnomAD
rs915539075 CA270423031	314	T>S		No	ClinGen TOPMed gnomAD
CA392379997 rs1186538777	315	G>R		No	ClinGen TOPMed
CA392379897 rs1259413173	318	V>I		No	ClinGen gnomAD
CA270422872 rs983002840	321	K>N		No	ClinGen TOPMed gnomAD
CA392379861 rs1290704769	323	K>Q		No	ClinGen gnomAD
CA392379845 rs1398757795	325	Q>P		No	ClinGen gnomAD
CA392379827 rs1375407865	327	T>I		No	ClinGen TOPMed
rs1345012427 CA392379818	329	S>R		No	ClinGen TOPMed gnomAD
CA392379802 rs1303813409	331	N>H		No	ClinGen gnomAD
CA7554674 rs755119621	333	I>M		No	ClinGen ExAC gnomAD
rs767555993 CA7554675	333	I>T		No	ClinGen ExAC gnomAD
CA392379782 rs1595705398	334	Y>S		No	ClinGen Ensembl
rs751649716 CA7554673	335	L>R		No	ClinGen ExAC gnomAD
CA392379767 rs1158749601	336	R>S		No	ClinGen TOPMed
rs765088806 CA7554672	338	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel CA392379746 rs1410775447	339	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA7554671 rs761765850	340	S>L		No	ClinGen ExAC TOPMed gnomAD
rs763843865 CA7554669	342	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1595705370 CA392379722	344	T>P		No	ClinGen Ensembl
rs1199509130 CA392379709	345	D>E		No	ClinGen gnomAD
CA392379700 rs1173128425	347	M>L		No	ClinGen gnomAD
TCGA novel	348	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392379624 rs1337480983 COSM962537	355	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	355	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1228488372 CA392379618	356	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1269637056 CA392379619	356	R>W		No	ClinGen gnomAD
rs1367618872 CA392379605 COSM1708153	358	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs370153946 COSM212234 CA7554653	358	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7554654 rs370153946	358	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA270419247 rs753711110	360	V>I		No	ClinGen gnomAD
CA392379597 rs753711110	360	V>L		No	ClinGen gnomAD
rs1334695932 CA392379579	362	L>R		No	ClinGen gnomAD
rs1416070230 CA392379570	363	W>C		No	ClinGen gnomAD
rs752551357 CA7554650	365	V>M		No	ClinGen ExAC TOPMed gnomAD
rs767213026 CA7554649	366	I>V		No	ClinGen ExAC gnomAD
rs773949912 CA7554647	367	R>Q		No	ClinGen ExAC gnomAD
CA7554648 rs143418383 COSM1323166	367	R>W	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA392379533 rs1238584722	370	G>R		No	ClinGen gnomAD
CA392379517 rs1450426561	372	K>R		No	ClinGen gnomAD
CA392379508 rs1436552773	373	N>I		No	ClinGen gnomAD
rs867402027 CA270419164	375	Q>*		No	ClinGen Ensembl
CA392379493 rs1360747727	375	Q>H		No	ClinGen gnomAD
rs1163831886 CA392379465	380	H>N		No	ClinGen TOPMed
rs371604874 CA7554642	380	H>Q		No	ClinGen ESP ExAC gnomAD
CA7554623 rs776953692	382	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7554622 rs769044949	384	M>V		No	ClinGen ExAC gnomAD
rs1350044701 CA392379267	391	L>P		No	ClinGen gnomAD
COSM107125 rs142738240 CA270414855	392	V>I	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA7554621 rs149133008	393	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA392379229 rs1595698650	395	D>A		No	ClinGen Ensembl
CA7554619 rs368925670	395	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA270414814 rs368925670	395	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs374512383 CA7554617	399	E>D		No	ClinGen ESP ExAC gnomAD
rs1276530494 CA392379158	401	P>L		No	ClinGen TOPMed
rs755956620 CA7554616	401	P>S		No	ClinGen ExAC
rs1266939845 CA392379149	402	A>V		No	ClinGen gnomAD
TCGA novel	406	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488931255 CA392379106	406	L>I		No	ClinGen TOPMed gnomAD
CA7554612 rs755522711	408	L>V		No	ClinGen ExAC gnomAD
CA392379074 rs1237634165	409	V>L		No	ClinGen gnomAD
rs765892180 CA7554611	410	V>I		No	ClinGen ExAC gnomAD
CA7554609 COSM3501965 rs749851294	412	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7554608 COSM3401803 rs764847892	412	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7554610 rs749851294	412	R>S		No	ClinGen ExAC TOPMed gnomAD
CA270414694 rs1033527583	413	L>P		No	ClinGen TOPMed gnomAD
rs1302417310 CA392378977	415	G>V		No	ClinGen gnomAD
CA7554586 rs377332777	416	P>L		No	ClinGen ESP ExAC gnomAD
rs1164726097 CA392378958	417	N>S		No	ClinGen TOPMed
CA270414382 rs201932679	418	C>*		No	ClinGen Ensembl
CA7554585 rs753359682	418	C>Y		No	ClinGen ExAC
rs1437648926 CA392378932	419	L>R		No	ClinGen gnomAD
CA7554584 rs764517146	421	E>D		No	ClinGen ExAC gnomAD
CA392378914 rs1404563063	421	E>G		No	ClinGen gnomAD
CA392378843 rs1386073952	427	I>T		No	ClinGen TOPMed
CA392378828 rs1361013276	428	A>G		No	ClinGen gnomAD
CA7554582 rs752957505	429	K>R		No	ClinGen ExAC TOPMed gnomAD
rs767974283 CA7554581	430	A>T		No	ClinGen ExAC gnomAD
CA7554579 rs774705171	431	G>V		No	ClinGen ExAC gnomAD
rs771125639 CA7554578	432	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7554577 rs201154324	432	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773432904 CA7554576	433	L>V		No	ClinGen ExAC gnomAD
rs746989923 CA7554574	437	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746989923 CA7554575	437	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1167720494 CA392378725	438	A>P		No	ClinGen gnomAD
CA392378717 rs1356084782	438	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs771965245 CA7554572	439	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1231110532 CA392378700	440	I>V		No	ClinGen gnomAD
CA270414313 rs913753206	442	D>N		No	ClinGen TOPMed
rs1381094649 CA392378635	445	I>V		No	ClinGen gnomAD
CA392378620 rs1483668327	446	I>V		No	ClinGen TOPMed
CA7554570 rs778569907	447	R>C		No	ClinGen ExAC TOPMed gnomAD
rs370055047 CA7554569	447	R>H	Variant assessed as Somatic; 9.244e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA392378589 rs1296524634	448	F>S		No	ClinGen gnomAD
TCGA novel	450	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392378545 rs1425683838	452	S>C		No	ClinGen TOPMed
rs1595698277 CA392378553	452	S>P		No	ClinGen Ensembl
rs1165748684 CA392378502	455	T>I		No	ClinGen TOPMed
rs1383214831 CA392378497	456	T>A		No	ClinGen gnomAD
rs1368175423 CA392378484	457	R>W		No	ClinGen TOPMed
CA270414285 rs267604244	458	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA392378414 rs1595698246	461	L>R		No	ClinGen Ensembl
CA392378389 rs1161453325	463	D>E		No	ClinGen TOPMed
CA392378398 rs1457172240	463	D>N		No	ClinGen TOPMed
rs1405409575 CA392378363	465	N>S		No	ClinGen Ensembl
rs756593325 COSM3420395 CA7554566	468	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM962536 rs753287349 CA7554565	468	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1595698226 CA392378315	469	D>A		No	ClinGen Ensembl
CA270414278 rs80017867	470	A>P		No	ClinGen Ensembl
rs751888297 CA7554562	473	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	474	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	475	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7554560 rs763301734	476	S>N		No	ClinGen ExAC gnomAD
CA392378201 rs1245896481	478	H>Q		No	ClinGen gnomAD
CA7554559 rs773400327	479	C>R		No	ClinGen ExAC TOPMed gnomAD
CA7554558 rs138250620	480	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs760522154 CA7554557	481	S>C		No	ClinGen ExAC gnomAD
CA7554555 rs771915811	484	S>C		No	ClinGen ExAC gnomAD
CA392378134 rs1403410415	484	S>N		No	ClinGen gnomAD
CA7554554 rs377513123	485	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770521044 CA7554552	486	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7554553 rs778709808	486	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392378098 rs1182536179	487	V>A		No	ClinGen TOPMed
rs1433567246 CA392378092	488	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA7554551 rs748990320	489	N>S		No	ClinGen ExAC gnomAD
CA270414204 rs967530205	491	I>V		No	ClinGen Ensembl
CA270414186 rs140622358	494	I>M		No	ClinGen ESP TOPMed
CA7554549 rs145672878 RCV000885711	494	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748593895 CA7554548	495	R>W		No	ClinGen ExAC gnomAD
CA392378000 rs1183705126	496	G>C		No	ClinGen TOPMed gnomAD
rs1183705126 CA392377998	496	G>R		No	ClinGen TOPMed gnomAD
CA7554547 rs781684311	496	G>V		No	ClinGen ExAC gnomAD
rs146711827 CA7554546	498	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7554545 rs751916104 CA392377953	500	W>R		No	ClinGen ExAC gnomAD
rs766896051 CA7554544	501	A>T		No	ClinGen ExAC TOPMed gnomAD
rs758659075 CA7554543	501	A>V		No	ClinGen ExAC gnomAD
rs960045100 CA270414152	504	T>A		No	ClinGen Ensembl
CA7554542 rs750738762	504	T>M		No	ClinGen ExAC TOPMed gnomAD
rs750738762 CA392377903	504	T>R		No	ClinGen ExAC TOPMed gnomAD
CA392377834 rs377547096	510	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7554539 rs377547096	510	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs767448591 CA7554538	510	S>I		No	ClinGen ExAC TOPMed gnomAD
CA392377826 rs1366337205	510	S>R		No	ClinGen TOPMed
rs1324400125 CA392377816	511	G>E		No	ClinGen gnomAD
rs1228207644 CA392377822	511	G>R		No	ClinGen TOPMed
CA7554536 rs565991426	512	A>S		No	ClinGen ExAC gnomAD
rs565991426 CA7554537	512	A>T		No	ClinGen ExAC gnomAD
rs1392677343 CA392377782	514	D>G		No	ClinGen gnomAD
rs770753940 CA7554535	517	V>G		No	ClinGen ExAC gnomAD
TCGA novel	518	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270414115 rs143383439	519	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371216664 CA7554533	519	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371216664 CA7554534	519	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7554532 rs143383439	519	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1476726378 CA392377690	522	I>F		No	ClinGen gnomAD
rs1476726378 CA392377687	522	I>L		No	ClinGen gnomAD
rs1482348453 CA392377665	523	I>M		No	ClinGen TOPMed
rs1376546436 CA392377662	524	K>E		No	ClinGen gnomAD
rs1199193701 CA392377607	527	Q>H		No	ClinGen gnomAD
rs375190332 CA7554531	528	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs201567805 CA7554530	528	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	529	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392377569 rs1449830286	531	A>T		No	ClinGen TOPMed
CA392377556 rs201940833	532	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7554528 rs201940833	532	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1434866027 CA392377538	533	P>L		No	ClinGen TOPMed
CA392377534 rs1270525844	534	M>V		No	ClinGen gnomAD
rs1040792124 CA270414087	535	K>E		No	ClinGen TOPMed
CA392377513 rs1376551632	535	K>R		No	ClinGen TOPMed
rs1201889717 CA392377505	536	R>G		No	ClinGen gnomAD
CA392377499 rs1163685272	536	R>T		No	ClinGen TOPMed gnomAD
CA270414081 rs267604243	537	E>K		No	ClinGen Ensembl
CA392377472 rs1296625383	538	N>S		No	ClinGen Ensembl
CA7554526 rs758889032	540	L>F		No	ClinGen ExAC
rs1287519645 CA392377415	543	E>G		No	ClinGen TOPMed
CA392377407 rs1324899475	544	T>N		No	ClinGen gnomAD
CA392377391 rs1220298463	547	D>G		No	ClinGen TOPMed
CA392377369 rs1322516637	550	D>E		No	ClinGen gnomAD
rs1412667334 CA392377367	551	D>N		No	ClinGen gnomAD
rs535558991 CA7554521	552	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA7554520 RCV000957275 rs16963486 VAR_048874	553	F>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA270414035 rs980695027	555	E>G		No	ClinGen TOPMed
TCGA novel	555	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387879455 CA392377326	556	E>D		No	ClinGen gnomAD
TCGA novel	558	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775075139 CA7554519	559	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA7554518 rs766150542	561	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs949285541 CA270414018	562	K>T		No	ClinGen TOPMed
CA7554515 rs769452104	563	H>L		No	ClinGen ExAC gnomAD
CA392377287 rs1489368653	563	H>N		No	ClinGen TOPMed
rs747782099 CA7554514	566	S>F		No	ClinGen ExAC gnomAD
rs776173042 CA7554513	568	F>Y		No	ClinGen ExAC
rs747503110 CA7554510	569	L>P		No	ClinGen ExAC TOPMed gnomAD
CA392377219 rs1479138589	573	L>S		No	ClinGen TOPMed
rs1160751226 CA392377213	574	S>A		No	ClinGen TOPMed
rs780647095 CA7554509	574	S>F		No	ClinGen ExAC TOPMed gnomAD
rs200537365 CA392377194	577	T>A		No	ClinGen ExAC gnomAD
CA7554508 rs200537365	577	T>S		No	ClinGen ExAC gnomAD
rs746193079 CA7554507	580	K>T		No	ClinGen ExAC TOPMed gnomAD
CA7554506 rs142718396	581	T>K		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA7554504 rs142718396	581	T>M		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1365725424 CA392377163	582	V>M		No	ClinGen gnomAD
CA270413950 rs745852282	583	R>C		No	ClinGen TOPMed gnomAD
rs777905414 CA7554501	583	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777905414 COSM555261 CA7554502	583	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7554499 rs752788866	585	L>V		No	ClinGen ExAC TOPMed gnomAD
rs551690440 CA7554498	589	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750174191 CA7554496	591	P>S		No	ClinGen ExAC gnomAD
CA270413899 rs992976509	592	V>L		No	ClinGen gnomAD
rs764994958 CA7554495	593	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	594	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7554492 rs768366611	596	K>N		No	ClinGen ExAC gnomAD
CA7554494 rs761518898	596	K>Q		No	ClinGen ExAC gnomAD
CA7554493 rs375656460	596	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1567443452 CA392377057	599	P>S		No	ClinGen Ensembl
rs772656918 CA7554489	600	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	601	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270413881 rs868554492	602	A>V		No	ClinGen Ensembl
rs144259269 CA7554488	609	S>F		No	ClinGen ESP ExAC gnomAD
rs779304695 CA7554487	610	S>F		No	ClinGen ExAC gnomAD
rs1567443419 CA392376989	610	S>P		No	ClinGen Ensembl
CA7554486 rs771267720	611	R>S		No	ClinGen ExAC TOPMed gnomAD
CA392376974 rs1595697640	612	V>G		No	ClinGen Ensembl
TCGA novel	612	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749512582 CA7554485	613	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7554484 rs777801770	613	R>T		No	ClinGen ExAC gnomAD
CA392376968 rs1251880635	614	I>L		No	ClinGen TOPMed
CA7554483 rs756336000	616	S>A		No	ClinGen ExAC TOPMed gnomAD
rs148195092 CA270413845 COSM109524	616	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs781276549 CA7554482	622	M>K		No	ClinGen ExAC gnomAD
CA7554481 rs781276549	622	M>T		No	ClinGen ExAC gnomAD
rs750423514 CA7554479	624	M>I		No	ClinGen ExAC gnomAD
CA7554480 rs758313706	624	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1371947750 CA392376886	625	L>P		No	ClinGen gnomAD
CA270413792 rs1029145791	626	K>N		No	ClinGen TOPMed
CA392376876 rs1406264101	627	K>E		No	ClinGen TOPMed
rs765063267 CA7554478	628	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	628	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	629	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7554477 rs761455765	629	A>G		No	ClinGen ExAC TOPMed gnomAD
CA392376861 rs1415195728	629	A>P		No	ClinGen gnomAD
rs1471890215 CA392376851	630	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	632	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432188802 CA392376836	632	K>T		No	ClinGen TOPMed
TCGA novel	633	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760372380 CA7554476	634	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1182906549 CA392376823	634	I>T	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1484167434 CA392376806	636	F>L		No	ClinGen gnomAD
CA392376794 rs1349913804	638	S>N		No	ClinGen TOPMed
rs773972874 CA7554475	639	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760423840 CA7554474	640	P>L		No	ClinGen ExAC gnomAD
rs760423840 CA392376780	640	P>R		No	ClinGen ExAC gnomAD
rs2073440 CA7554471 VAR_033846	644	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1362068856 CA392376745	645	C>Y		No	ClinGen gnomAD
CA392376741 rs1158837084	646	S>G		No	ClinGen gnomAD
CA7554470 rs774779143	646	S>N		No	ClinGen ExAC TOPMed gnomAD
CA392376483 rs1567443266	647	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA7554468 rs749549807 COSM343223	648	Q>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1350892062 CA392376469	649	C>*		No	ClinGen gnomAD
CA392376473 rs1453524865	649	C>R		No	ClinGen gnomAD
rs769958247 CA7554466	649	C>Y		No	ClinGen ExAC gnomAD
rs867191797 CA270413709	650	G>E		No	ClinGen Ensembl
rs1456117858 CA392376457	651	L>P		No	ClinGen gnomAD
rs372779026 CA7554463	652	Q>H		No	ClinGen ESP ExAC TOPMed
CA7554462 rs747121866	653	L>V		No	ClinGen ExAC gnomAD
rs1190882769 CA392376437	655	C>G		No	ClinGen gnomAD
CA392376435 rs1478470334	655	C>S		No	ClinGen gnomAD
rs1247133962 CA392376429	656	C>G		No	ClinGen gnomAD
rs778646925 CA7554461	657	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1463496709 CA392376418	658	L>M		No	ClinGen gnomAD
CA7554460 rs757247674	660	A>T		No	ClinGen ExAC gnomAD
CA392376396 rs1208842360	661	M>T		No	ClinGen gnomAD
rs753525968 CA7554459	662	V>G		No	ClinGen ExAC gnomAD
CA392376391 rs1318239474	662	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA392376379 rs1218350666	663	V>Y		No	ClinGen gnomAD

No associated diseases with P19113

1 regional properties for P19113

Type	Name	Position	InterPro Accession
binding_site	Pyridoxal-phosphate binding site	298 - 319	IPR021115

Functions

		Description
EC Number	4.1.1.22	Carboxy-lyases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

3 GO annotations of molecular function

Name	Definition
carboxy-lyase activity	Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound.
histidine decarboxylase activity	Catalysis of the reaction: L-histidine = histamine + CO2.
pyridoxal phosphate binding	Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6.

4 GO annotations of biological process

Name	Definition
catecholamine biosynthetic process	The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine.
histamine biosynthetic process	The chemical reactions and pathways resulting in the formation of histamine, a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans.
histidine catabolic process	The chemical reactions and pathways resulting in the breakdown of histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid.
histidine metabolic process	The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5EA83	HDC	Histidine decarboxylase	Bos taurus (Bovine)	PR
P18486	amd	3,4-dihydroxyphenylacetaldehyde synthase	Drosophila melanogaster (Fruit fly)	PR
P05031	Ddc	Aromatic-L-amino-acid decarboxylase	Drosophila melanogaster (Fruit fly)	PR
P23738	Hdc	Histidine decarboxylase	Mus musculus (Mouse)	PR
P16453	Hdc	Histidine decarboxylase	Rattus norvegicus (Rat)	PR
Q95ZS2	tdc-1	Tyrosine decarboxylase	Caenorhabditis elegans	PR
Q9M0G4	TYRDC	Tyrosine decarboxylase 2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MMEPEEYRER	GREMVDYICQ	YLSTVRERRV	TPDVQPGYLR	AQLPESAPED	PDSWDSIFGD
70	80	90	100	110	120
IERIIMPGVV	HWQSPHMHAY	YPALTSWPSL	LGDMLADAIN	CLGFTWASSP	ACTELEMNVM
130	140	150	160	170	180
DWLAKMLGLP	EHFLHHHPSS	QGGGVLQSTV	SESTLIALLA	ARKNKILEMK	TSEPDADESC
190	200	210	220	230	240
LNARLVAYAS	DQAHSSVEKA	GLISLVKMKF	LPVDDNFSLR	GEALQKAIEE	DKQRGLVPVF
250	260	270	280	290	300
VCATLGTTGV	CAFDCLSELG	PICAREGLWL	HIDAAYAGTA	FLCPEFRGFL	KGIEYADSFT
310	320	330	340	350	360
FNPSKWMMVH	FDCTGFWVKD	KYKLQQTFSV	NPIYLRHANS	GVATDFMHWQ	IPLSRRFRSV
370	380	390	400	410	420
KLWFVIRSFG	VKNLQAHVRH	GTEMAKYFES	LVRNDPSFEI	PAKRHLGLVV	FRLKGPNCLT
430	440	450	460	470	480
ENVLKEIAKA	GRLFLIPATI	QDKLIIRFTV	TSQFTTRDDI	LRDWNLIRDA	ATLILSQHCT
490	500	510	520	530	540
SQPSPRVGNL	ISQIRGARAW	ACGTSLQSVS	GAGDDPVQAR	KIIKQPQRVG	AGPMKRENGL
550	560	570	580	590	600
HLETLLDPVD	DCFSEEAPDA	TKHKLSSFLF	SYLSVQTKKK	TVRSLSCNSV	PVSAQKPLPT
610	620	630	640	650	660
EASVKNGGSS	RVRIFSRFPE	DMMMLKKSAF	KKLIKFYSVP	SFPECSSQCG	LQLPCCPLQA

MV