AiPD: Autoinhibited Protein Database

P10632

Gene name	CYP2C8
Protein name	Cytochrome P450 2C8
Names	CYPIIC8, Cytochrome P450 IIC2, Cytochrome P450 MP-12, Cytochrome P450 MP-20, Cytochrome P450 form 1, S-mephenytoin 4-hydroxylase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1558
EC number	1.14.14.1: With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

215-284 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

215-284 (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

6 structures for P10632

Entry ID	Method	Resolution	Chain	Position	Source
1PQ2	X-ray	270 A	A/B	19-490	PDB
2NNH	X-ray	260 A	A/B	28-490	PDB
2NNI	X-ray	280 A	A	28-490	PDB
2NNJ	X-ray	228 A	A	28-490	PDB
2VN0	X-ray	270 A	A	28-490	PDB
AF-P10632-F1	Predicted				AlphaFoldDB

493 variants for P10632

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000656544 VAR_012238 rs11572080 CA5617795	139	R>K	CYP2C8 HAPLOTYPE POLYMORPHISM allele CYP2C8*3; reduces enzymatic activity with paclitaxel as substrate; decreases intrinsic clearance of paclitaxel; reduces enzymatic activity with amodiaquine as substrate [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs72558196 RCV000008922	159	T>missing	DRUG METABOLISM, ALTERED, CYP2C8-RELATED [ClinVar]	Yes	ClinVar dbSNP
VAR_011754 rs1058930 RCV000656545 CA5617661	264	I>M	CYP2C8 POLYMORPHISM allele CYP2C8*4; reduces enzymatic activity with paclitaxel as substrate; decreases affinity for amodiaquine [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5617657 RCV000656546 VAR_012239 rs11572103	269	I>F	CYP2C8 POLYMORPHISM allele CYP2C8*2; only found in African-Americans; increases intrinsic clearance of paclitaxel; decreases affinity for amodiaquine; increases enzymatic activity with amodiaquine as substrate [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1359014715	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1273514910 CA377685757	3	P>R		No	ClinGen gnomAD
CA5617954 rs373001219	3	P>T		No	ClinGen ESP ExAC TOPMed
CA377685751 rs1230631165	4	F>S		No	ClinGen gnomAD
CA377685753 rs1483527949	4	F>V		No	ClinGen TOPMed
rs749659748 CA5617953	5	V>E		No	ClinGen ExAC gnomAD
rs778470178 CA5617952	8	V>L		No	ClinGen ExAC gnomAD
TCGA novel	8	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351448178 CA377685721	10	C>R		No	ClinGen gnomAD
CA377685712 rs1474362201	11	L>V		No	ClinGen TOPMed
rs756655248 CA5617951	12	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA377685690 rs1474406588	14	M>I		No	ClinGen gnomAD
CA377685692 rs1187705870	14	M>K		No	ClinGen gnomAD
CA211732113 rs530027098	14	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5617950 rs530027098	14	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1260275686 CA377685685	15	L>F		No	ClinGen gnomAD
CA377685679 rs1188823438	16	L>F		No	ClinGen TOPMed gnomAD
CA377685676 rs1437372954	16	L>P		No	ClinGen gnomAD
CA377685680 rs1188823438	16	L>V		No	ClinGen TOPMed gnomAD
CA377685657 rs1270973407	19	L>R		No	ClinGen gnomAD
CA377685652 rs1564743916	20	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5617949 rs757789288	21	R>*		No	ClinGen ExAC gnomAD
CA5617948 rs757789288	21	R>G		No	ClinGen ExAC gnomAD
rs202131138 CA5617947	21	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	23	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs267602643 CA5617944	26	R>K		No	ClinGen ExAC gnomAD
CA377685587 rs1269726684	29	L>H		No	ClinGen TOPMed
rs776380824 CA5617943	30	P>T		No	ClinGen ExAC TOPMed gnomAD
CA377685578 rs944376559	31	P>A		No	ClinGen TOPMed gnomAD
CA211732104 rs944376559	31	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1400611147 CA377685554	33	P>L		No	ClinGen gnomAD
rs760629119 CA5617941	33	P>S		No	ClinGen ExAC gnomAD
rs911527119 CA211732099	34	T>I		No	ClinGen TOPMed
rs911527119 CA377685549	34	T>S		No	ClinGen TOPMed
rs775351304 CA5617940	35	P>L		No	ClinGen ExAC gnomAD
CA377685517 rs1460248714	38	I>V		No	ClinGen gnomAD
CA377685501 rs1335011131	39	I>T		No	ClinGen TOPMed gnomAD
rs1420452597 CA377685505	39	I>V		No	ClinGen gnomAD
CA211732069 rs749557647	40	G>E		No	ClinGen TOPMed gnomAD
CA211732066 rs749557647	40	G>V		No	ClinGen TOPMed gnomAD
CA377685468 rs1589450526	42	M>I		No	ClinGen Ensembl
rs774695111 CA5617937	44	Q>H		No	ClinGen ExAC gnomAD
rs772202170 CA5617939	44	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs745933397 CA5617938	44	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA377685442 rs1252654584	45	I>K		No	ClinGen gnomAD
CA5617936 rs771032812	45	I>V		No	ClinGen ExAC TOPMed gnomAD
CA377685438 rs1589450506	46	D>N		No	ClinGen Ensembl
rs1434911415 CA377685422	47	V>I		No	ClinGen TOPMed
CA5617934 rs778308888	49	D>N		No	ClinGen ExAC gnomAD
CA211732048 rs375170154	50	I>T		No	ClinGen ESP TOPMed
CA5617932 rs756493843	51	C>*		No	ClinGen ExAC TOPMed gnomAD
rs776194558 CA5617933	51	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1228615717 CA377685376	51	C>G		No	ClinGen gnomAD
rs1589450483 CA377685368	52	K>Q		No	ClinGen Ensembl
CA5617931 rs748678162	52	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5617930 rs781484717	53	S>Y		No	ClinGen ExAC gnomAD
CA377685335 rs1437391208	55	T>A		No	ClinGen TOPMed
CA5617929 rs113939225	56	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5617893 rs747486167	57	F>L		No	ClinGen ExAC gnomAD
rs780544107 CA5617892	58	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377684334 rs1355198251	59	K>E		No	ClinGen gnomAD
CA377684320 rs1281247291	59	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA377684305 rs1292038418	60	V>A		No	ClinGen TOPMed gnomAD
CA377684274 rs1440057227	61	Y>*		No	ClinGen gnomAD
CA5617890 rs748785700	61	Y>C		No	ClinGen ExAC gnomAD
CA377684293 rs1380440546	61	Y>D		No	ClinGen gnomAD
CA377684265 rs1402775528	62	G>R		No	ClinGen gnomAD
CA5617889 rs777455799	63	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5617887 rs752350945	64	V>G		No	ClinGen ExAC gnomAD
rs1416881603 CA377684233	64	V>L		No	ClinGen TOPMed gnomAD
rs1416881603 CA377684231	64	V>M		No	ClinGen TOPMed gnomAD
rs903084051 CA211731113	65	F>Y		No	ClinGen TOPMed gnomAD
rs376132046 CA5617885	67	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA377684158 rs1198864967	68	Y>*		No	ClinGen gnomAD
rs751453931 CA5617883	68	Y>C		No	ClinGen ExAC gnomAD
CA5617882 CA5617881 rs747809923	71	M>I		No	ClinGen ExAC TOPMed gnomAD
CA377684103 rs1564743201	71	M>T		No	ClinGen Ensembl
CA377684078 rs1264050617	72	N>K		No	ClinGen gnomAD
CA377684070 rs1247362317	73	P>A		No	ClinGen gnomAD
rs778628526 CA211731077	73	P>L		No	ClinGen Ensembl
rs765368370 CA377684041	74	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1366993620 CA377684017	76	V>G		No	ClinGen TOPMed
rs1471056612 CA377684021	76	V>L		No	ClinGen TOPMed
rs1471056612 CA377684023	76	V>M		No	ClinGen TOPMed
CA377684016 rs1407175407	77	F>V		No	ClinGen TOPMed
CA5617878 rs761964694	78	H>R		No	ClinGen ExAC gnomAD
rs866172214 CA211731067	78	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA377683980 rs776856979	79	G>*		No	ClinGen ExAC gnomAD
rs776856979 CA5617877	79	G>R		No	ClinGen ExAC gnomAD
rs1332366171 CA377683952	81	E>Q		No	ClinGen gnomAD
rs17851796 CA211731041	82	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs17851796 CA5617875	82	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776037747 CA5617874	85	E>G		No	ClinGen ExAC TOPMed gnomAD
CA377683867 rs1369026893	86	A>T		No	ClinGen gnomAD
rs1281410078 CA377683854	86	A>V		No	ClinGen TOPMed
CA377683849 rs1243397592	87	L>Q		No	ClinGen gnomAD
CA5617873 rs201449274	88	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5617872 rs201449274	88	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377683830 rs1465803140	89	D>N		No	ClinGen gnomAD
CA5617870 rs372299895	90	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	93	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377683732 rs1361809077	93	E>Q		No	ClinGen TOPMed
CA5617867 rs578254206	98	G>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	99	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1227999901 CA377683665	99	N>S		No	ClinGen gnomAD
rs1260708282 CA377683657	100	S>P		No	ClinGen gnomAD
CA377683641 rs1564743120	101	P>L		No	ClinGen Ensembl
CA5617865 rs780189252	102	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1564743112 CA377683628	103	S>T		No	ClinGen Ensembl
CA377683619 rs1233586913	104	Q>*		No	ClinGen gnomAD
CA5617864 rs758378725	105	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377683579 rs1303636903	107	T>N		No	ClinGen gnomAD
CA377683576 rs1181890393	108	K>E		No	ClinGen TOPMed
CA377683569 rs188305680	108	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377683560 rs1427394554	110	L>F		No	ClinGen TOPMed
CA377683279 rs752917521	114	S>C		No	ClinGen ExAC gnomAD
CA5617814 rs752917521	114	S>F		No	ClinGen ExAC gnomAD
rs755391351 CA5617812	115	S>I		No	ClinGen ExAC gnomAD
COSM3397324 CA5617810 rs369552457	115	S>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs763545622 CA5617809	116	N>I		No	ClinGen ExAC gnomAD
CA377683238 rs1455733744	117	G>A		No	ClinGen TOPMed
rs1011421475 CA211730725	118	K>T		No	ClinGen gnomAD
CA377683191 rs1354192764	120	W>*		No	ClinGen TOPMed gnomAD
rs1386003904 CA377683189	121	K>E		No	ClinGen TOPMed
rs1384116880 CA377683176	122	E>K		No	ClinGen TOPMed
CA211730721 rs201739495	123	I>N		No	ClinGen TOPMed
rs369591911 CA5617806	124	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5617807 rs377386087	124	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs188111115 CA211730696	125	R>C		No	ClinGen 1000Genomes TOPMed
CA377683146 rs188111115	125	R>G		No	ClinGen 1000Genomes TOPMed
rs775342549 CA5617805	125	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377683112 rs1448538477	128	L>H		No	ClinGen gnomAD
CA377683105 rs1326941019	129	T>K		No	ClinGen TOPMed
CA5617803 rs139650638	130	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139650638 CA211730681	130	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5617799 COSM1970948 rs777501435	132	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5617800 rs145992929	132	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1180517714 CA377683005	136	M>I		No	ClinGen TOPMed gnomAD
rs781440953 CA5617796	136	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5617797 rs781440953	136	M>V		No	ClinGen ExAC TOPMed gnomAD
rs11572080 CA211730615	139	R>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377682933 rs1220595921	141	I>T		No	ClinGen TOPMed gnomAD
CA5617794 rs751691701	141	I>V		No	ClinGen ExAC gnomAD
CA5617793 rs780488900	142	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1589449280 CA377682887	143	D>N		No	ClinGen Ensembl
CA5617792 rs540288649	144	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA5617791 rs540288649	144	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA5617790 rs765827545	144	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1352809219 CA377682844	145	V>L		No	ClinGen gnomAD
rs1589449263 CA377682821	146	Q>R		No	ClinGen Ensembl
rs760313151 CA5617789	147	E>D		No	ClinGen ExAC gnomAD
rs200057634 CA211730584	150	H>R		No	ClinGen 1000Genomes gnomAD
CA5617788 rs767098538	154	E>*		No	ClinGen ExAC TOPMed gnomAD
rs759288662 CA5617786	154	E>A		No	ClinGen ExAC gnomAD
VAR_001250	154	E>D		No	UniProt
CA5617787 rs767098538	154	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1273845736 CA377682678	155	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA377682654 rs1351974661	156	L>F		No	ClinGen gnomAD
CA5617785 rs201561213	158	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	158	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1419635449 CA377682618	158	K>N		No	ClinGen gnomAD
CA377682625 rs1348609774	158	K>R		No	ClinGen TOPMed
CA5617783 rs11572081	160	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1440353583 CA377682569	161	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5617750 rs749821258	162	S>A		No	ClinGen ExAC gnomAD
CA5617749 rs778416827	163	P>L		No	ClinGen ExAC gnomAD
CA377682108 rs1379006817	164	C>R		No	ClinGen gnomAD
rs754570400 CA5617748	164	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA5617747 rs576554998	166	P>L		No	ClinGen ExAC TOPMed gnomAD
CA211729396 rs867606712 COSM1721784	166	P>S	NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA5617746 rs766093000	167	T>I		No	ClinGen ExAC gnomAD
rs1360003736 CA377682076	167	T>S		No	ClinGen gnomAD
rs750028311 CA5617744	169	I>T		No	ClinGen ExAC gnomAD
rs758016430 CA5617745	169	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	170	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753831371 CA5617741	170	L>P		No	ClinGen ExAC gnomAD
CA5617740 VAR_075541 rs142886225	171	G>S	allele CYP2C8*6; no effect on affinity or enzymatic activity with paclitaxel as substrate; decreases affinity for amodiaquine; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine [UniProt]	No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs553407481 CA5617739	172	C>*		No	ClinGen ExAC gnomAD
CA377682018 rs775466363	173	A>S		No	ClinGen ExAC TOPMed gnomAD
rs775466363 CA5617738	173	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5617737 rs772144986	174	P>S		No	ClinGen ExAC TOPMed gnomAD
rs141350682 CA5617736	175	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	175	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs113008582 CA211729360	176	N>D		No	ClinGen gnomAD
CA5617735 rs774652922	176	N>T		No	ClinGen ExAC gnomAD
rs771485242 CA377681970	177	V>A		No	ClinGen ExAC TOPMed gnomAD
rs771485242 CA5617734	177	V>G		No	ClinGen ExAC TOPMed gnomAD
CA5617733 rs749653386	178	I>F		No	ClinGen ExAC gnomAD
CA211729339 rs201219972	179	C>S		No	ClinGen Ensembl
CA5617728 rs757865823	181	V>A		No	ClinGen ExAC gnomAD
rs757865823 CA377681927	181	V>D		No	ClinGen ExAC gnomAD
RCV000969902 CA5617729 rs41286886	181	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5617726 rs147150224	182	V>I		No	ClinGen ESP ExAC
rs757091682 CA5617725	184	Q>*		No	ClinGen ExAC gnomAD
rs1162574508 CA377681888	185	K>T		No	ClinGen gnomAD
CA5617724 rs72558195	186	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_075542 rs72558195 CA211729308	186	R>G	allele CYP2C8*8; increases affinity for paclitaxel; reduces enzymatic activity with paclitaxel as substrate; decreases intrinsic clearance of paclitaxel; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA377681877 rs543793530	186	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5617723 rs543793530	186	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5617722 rs760549145	188	D>G		No	ClinGen ExAC gnomAD
CA211729288 rs923498624	190	K>R		No	ClinGen Ensembl
rs976655119 CA211729283	191	D>H		No	ClinGen Ensembl
rs1239576080 CA377681817	191	D>V		No	ClinGen gnomAD
TCGA novel	191	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767495950 CA5617720	193	N>H		No	ClinGen ExAC gnomAD
VAR_001251	193	N>K		No	UniProt
rs201899315 CA5617719	194	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1224419655 CA377681734	196	T>I		No	ClinGen TOPMed gnomAD
rs1224419655 CA377681739	196	T>N		No	ClinGen TOPMed gnomAD
rs979115736 CA211729267	198	M>L		No	ClinGen TOPMed gnomAD
rs979115736 CA211729273	198	M>V		No	ClinGen TOPMed gnomAD
CA377681692 rs1238654173	200	R>K		No	ClinGen TOPMed
CA377681674 rs1285701403	201	F>L		No	ClinGen TOPMed
rs201045618 CA5617716	201	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773482483 CA5617715	202	N>S		No	ClinGen ExAC gnomAD
CA5617713 rs748616823	203	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1199638958 CA377681592	207	I>T		No	ClinGen TOPMed
rs1389733689 CA377681564	210	S>T		No	ClinGen TOPMed gnomAD
CA5617711 rs146962089	212	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778575173 CA5617709 CA5617710	212	W>C		No	ClinGen ExAC gnomAD
CA5617690 rs148974310	215	V>I		No	ClinGen ESP ExAC TOPMed
CA377680026 rs1262526703	216	C>R		No	ClinGen gnomAD
CA5617688 rs748940966	217	N>K		No	ClinGen ExAC gnomAD
CA377679988 rs1169468171	218	N>K		No	ClinGen TOPMed
TCGA novel	218	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377679972 rs1343170325	220	P>T		No	ClinGen gnomAD
VAR_075543	223	I>M	allele CYP2C8*13; reduces enzymatic activity with paclitaxel as substrate; decreases intrinsic clearance of paclitaxel; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine [UniProt]	No	UniProt
CA5617687 rs777473406	225	C>F		No	ClinGen ExAC gnomAD
rs1257944392 CA377679890	225	C>S		No	ClinGen gnomAD
CA5617685 rs755915776	227	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5617684 rs747957327	228	G>*		No	ClinGen ExAC
TCGA novel	229	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781035773 CA5617683	230	H>P		No	ClinGen ExAC TOPMed gnomAD
CA5617682 rs754999950	230	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA377679771 rs1318434435	231	N>K		No	ClinGen gnomAD
CA377679761 rs1394907544	232	K>R		No	ClinGen gnomAD
rs765371874 CA211724918	233	V>L		No	ClinGen Ensembl
rs569886323 CA5617681	235	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1304200786 CA377679732	235	K>I		No	ClinGen gnomAD
TCGA novel	236	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758486634 CA5617680	237	V>F		No	ClinGen ExAC gnomAD
rs758486634 CA5617679	237	V>I		No	ClinGen ExAC gnomAD
CA377679701 rs537006401	238	A>G		No	ClinGen gnomAD
rs188934928 CA5617678 VAR_075544	238	A>P	allele CYP2C8*14; reduces enzymatic activity with paclitaxel as substrate; decreases intrinsic clearance of paclitaxel [UniProt]	No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA211724871 rs537006401	238	A>V		No	ClinGen gnomAD
rs765484240 CA5617677	239	L>F		No	ClinGen ExAC gnomAD
rs200358471 CA5617676	239	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5617675 rs777084058	240	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5617674 rs536085663	241	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5617673 rs536085663	241	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775905230 CA5617672 COSM3808069	241	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5617671 rs770490682	242	S>N		No	ClinGen ExAC gnomAD
CA211724827 rs954113571	243	Y>C		No	ClinGen TOPMed
CA377679663 rs1276582882	243	Y>D		No	ClinGen TOPMed
rs11572102 CA377679650	244	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377679646 rs1257202683	244	I>T		No	ClinGen TOPMed gnomAD
CA5617669 VAR_018958 rs11572102	244	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1466251379 CA377679630	246	E>Q		No	ClinGen gnomAD
VAR_075545 CA5617668 rs769460274	247	K>R	allele CYP2C8*9; increases enzymatic activity with paclitaxel as substrate; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine [UniProt]	No	ClinGen UniProt ExAC dbSNP gnomAD
VAR_001252	249	K>R		No	UniProt
CA377679580 rs1192688346	250	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs868290348 CA211724819	250	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA377679571 rs747718644	251	H>L		No	ClinGen ExAC TOPMed gnomAD
rs747718644 CA5617667	251	H>P		No	ClinGen ExAC TOPMed gnomAD
CA5617666 rs781159467	251	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1031948070 CA211724805	253	A>P		No	ClinGen TOPMed gnomAD
rs1031948070 CA377679554	253	A>T		No	ClinGen TOPMed gnomAD
rs1313975039 CA377679549	253	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs141120323 CA211724800	256	D>G		No	ClinGen ESP TOPMed gnomAD
rs141120323 CA377679523	256	D>V		No	ClinGen ESP TOPMed gnomAD
CA377679527 rs1377803445	256	D>Y		No	ClinGen TOPMed
CA377679486 rs1452925797	259	N>K		No	ClinGen TOPMed gnomAD
CA377679490 rs1338376550	259	N>S		No	ClinGen gnomAD
rs1399026106 CA377679480	260	P>S		No	ClinGen gnomAD
CA211724793 rs370459834	261	R>L		No	ClinGen TOPMed gnomAD
CA211724795 rs370459834	261	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs527793637 CA5617664	261	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1245114032 CA377679457 CA377679455	262	D>E		No	ClinGen TOPMed gnomAD
CA5617663 rs780136126	262	D>G		No	ClinGen ExAC gnomAD
rs1589444043 CA377679438	264	I>V		No	ClinGen Ensembl
rs551515028 COSM3442057 CA5617660	265	D>N	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA5617659 rs377675927	266	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1262133341 CA377679355	270	K>R		No	ClinGen TOPMed
rs373613215 CA5617656	272	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA377679323 rs1209166386	273	Q>H		No	ClinGen gnomAD
rs1273700272 CA377679325	273	Q>R		No	ClinGen gnomAD
CA5617639 rs78637571	274	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140599093 CA5617638	274	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA377678743 rs78637571	274	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140599093 CA377678742	274	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1589438565 CA377678738	275	K>Q		No	ClinGen Ensembl
CA377678716 rs1401521339	277	N>K		No	ClinGen gnomAD
TCGA novel	280	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	282	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211717904 rs370806022	283	N>S		No	ClinGen ESP
CA211717905 rs370806022	283	N>T		No	ClinGen ESP
TCGA novel	285	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5617637 rs767831998	287	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5617636 rs760114439	288	V>F		No	ClinGen ExAC TOPMed gnomAD
CA377678641 rs760114439	288	V>I		No	ClinGen ExAC TOPMed gnomAD
rs751955803 CA5617635	290	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1200050285 CA377678621	291	V>A		No	ClinGen gnomAD
CA377678588 rs1260426282	296	V>A		No	ClinGen gnomAD
CA5617634 rs764809341	298	G>V		No	ClinGen ExAC
rs761226800 CA5617633	299	T>K		No	ClinGen ExAC gnomAD
rs1317173820 CA377678557	301	T>I		No	ClinGen gnomAD
CA377678559 rs1317173820	301	T>K		No	ClinGen gnomAD
CA377678549 rs1277437933	303	S>G		No	ClinGen gnomAD
TCGA novel	304	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217885652 CA377678538	304	T>S		No	ClinGen gnomAD
CA377678535 rs1161753679	305	T>A		No	ClinGen gnomAD
rs768402831 CA5617632	306	L>M		No	ClinGen ExAC TOPMed gnomAD
rs760362543 CA5617630	306	L>R		No	ClinGen ExAC gnomAD
CA5617629 rs775446881	307	R>G		No	ClinGen ExAC gnomAD
rs771704932 CA377678514	308	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA377678520 COSM3735401 rs1290736076	308	Y>H	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5617627 rs745821391	311	L>V		No	ClinGen ExAC gnomAD
CA5617626 rs774148619	312	L>I		No	ClinGen ExAC TOPMed gnomAD
CA5617624 rs749344095	316	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5617623 rs778008122	317	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA211717777 rs537326361	319	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537326361 CA5617622	319	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377678445 rs1564735252	320	T>I		No	ClinGen Ensembl
CA377678443 rs748325595	321	A>P		No	ClinGen ExAC gnomAD
rs748325595 CA5617621	321	A>S		No	ClinGen ExAC gnomAD
CA377678417 rs1198462820	323	V>F		No	ClinGen TOPMed gnomAD
rs529746836 CA5617604	324	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1253663790 CA377678396	326	E>K		No	ClinGen gnomAD
CA5617602 rs755429980	327	I>T		No	ClinGen ExAC gnomAD
rs1321577949 CA377678379	328	D>V		No	ClinGen TOPMed gnomAD
CA377678371 rs1197049077	329	H>L		No	ClinGen TOPMed
CA377678374 rs1323706553	329	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5617601 rs747314362	330	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	331	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5617600 rs146806199	331	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146806199 CA5617599	331	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5617598 rs750902318	332	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755680526 CA5617596	334	H>Q		No	ClinGen ExAC gnomAD
CA5617595 rs752449186	335	R>G		No	ClinGen ExAC gnomAD
rs758711911 CA5617594	336	S>C		No	ClinGen ExAC gnomAD
rs758711911 CA211715986	336	S>G		No	ClinGen ExAC gnomAD
rs1564734456 CA377678327	337	P>T		No	ClinGen Ensembl
rs1235683283 CA377678302	340	Q>*		No	ClinGen TOPMed
CA377678284 rs1472318471	342	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5617592 rs148442781	343	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs148442781 CA377678278	343	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs774042223 CA5617591	344	H>R		No	ClinGen ExAC gnomAD
rs1385534979 CA377678266	345	M>V		No	ClinGen gnomAD
CA377678257 rs762895826	346	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5617589 rs762895826	346	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377678258 rs762895826	346	P>T		No	ClinGen ExAC TOPMed gnomAD
CA211715971 rs1033533057	347	Y>*		No	ClinGen TOPMed gnomAD
CA377678241 rs1253114631	348	T>I		No	ClinGen TOPMed gnomAD
CA377678242 rs1253114631	348	T>S		No	ClinGen TOPMed gnomAD
rs1488457782 CA377678227	350	A>V		No	ClinGen gnomAD
CA5617587 rs769930610	351	V>A		No	ClinGen ExAC gnomAD
CA5617585 rs199691080	354	E>K		No	ClinGen ExAC TOPMed gnomAD
CA211715927 rs373461548	355	I>F		No	ClinGen ESP
CA377678196 rs1285665051	355	I>N		No	ClinGen gnomAD
rs747215862 CA5617583 CA377678188	356	Q>H		No	ClinGen ExAC gnomAD
rs1238256599 CA377678194	356	Q>K		No	ClinGen gnomAD
rs1318899109 CA377678166	359	S>R		No	ClinGen TOPMed gnomAD
CA5617582 rs45438799	361	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs45438799 CA377678155	361	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5617580 rs746442257	363	P>H		No	ClinGen ExAC gnomAD
rs772497816 CA377678144	363	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772497816 CA5617581	363	P>T		No	ClinGen ExAC gnomAD
rs1000748565 CA211715916	364	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	364	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs77147096 CA377678135	365	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	365	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs77147096 CA5617578	365	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5617577 rs147133669	366	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5617576 rs147133669	366	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA211715851 rs945187704	369	A>S		No	ClinGen TOPMed
CA377678098 rs943138692	371	T>I		No	ClinGen TOPMed gnomAD
rs943138692 CA211715842	371	T>S		No	ClinGen TOPMed gnomAD
rs764839435 CA5617575	372	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	373	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211715821 rs759186099	379	Y>C		No	ClinGen Ensembl
CA5617570 rs375271607	382	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_075546	383	K>N	allele CYP2C8*10; reduces enzymatic activity with paclitaxel as substrate; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine [UniProt]	No	UniProt
CA5617568 rs765139666	383	K>R		No	ClinGen ExAC gnomAD
CA5617540 rs143386810 RCV000908979	384	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs553009747 CA5617538	385	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA377677902 rs1439245527	387	I>T		No	ClinGen TOPMed gnomAD
CA377677905 rs1156361410	387	I>V		No	ClinGen TOPMed
CA377677899 rs1435014107	388	M>V		No	ClinGen TOPMed
rs267602641 CA211713113	389	A>S		No	ClinGen TOPMed
CA211713158 rs267602641	389	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs768111752 CA5617537	389	A>V		No	ClinGen ExAC gnomAD
VAR_016947 rs72558194 CA5617536	390	L>S		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA211713059 rs74454169	391	L>M		No	ClinGen ExAC gnomAD
CA377677880 rs1251117221	391	L>P		No	ClinGen gnomAD
CA5617535 rs74454169	391	L>V		No	ClinGen ExAC gnomAD
rs201421851 CA5617534	393	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs201421851 CA211713042	393	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs774216153	394	V>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5617532 rs190807911	394	V>M		No	ClinGen 1000Genomes ExAC TOPMed
rs201301235 CA5617529	396	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5617528 rs186285658	397	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA211712959 rs113669182	398	D>G		No	ClinGen Ensembl
CA5617527 rs10509681 VAR_012240	399	K>R	allele CYP2C8*3; reduces enzymatic activity with paclitaxel as substrate; decreases intrinsic clearance of paclitaxel; reduces enzymatic activity with amodiaquine as substrate [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5617526 rs181982392	400	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5617525 rs767654252	402	P>T		No	ClinGen ExAC gnomAD
CA5617523 rs774651166	403	N>S		No	ClinGen ExAC gnomAD
rs66501115 CA211712902	404	P>A		No	ClinGen Ensembl
TCGA novel	405	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211712901 rs931569016	406	I>M		No	ClinGen Ensembl
rs1164229501 CA377677780	407	F>S		No	ClinGen gnomAD
CA211712898 rs898459930	408	D>E		No	ClinGen Ensembl
CA211712893 rs150733212	409	P>S		No	ClinGen ESP TOPMed
VAR_001253	411	H>L		No	UniProt
CA377677756 rs1156638250	411	H>Y		No	ClinGen gnomAD
rs770305304 CA5617519	414	D>G		No	ClinGen ExAC TOPMed gnomAD
rs374605743 CA5617518	416	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141209951 CA377677711	417	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141209951 CA377677712	417	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141209951 CA5617516	417	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs552247471 CA211712845	418	N>Y		No	ClinGen 1000Genomes
TCGA novel	422	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456697802 CA377677667	423	D>G		No	ClinGen TOPMed
CA5617515 rs745585418	424	Y>D		No	ClinGen ExAC gnomAD
CA5617514 rs371330493	425	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377677655 rs371330493	425	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5617511 rs777387539	426	M>I		No	ClinGen ExAC gnomAD
CA5617512 rs749078302	426	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5617513 rs148348784	426	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs752621676 CA5617509	427	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756095494 CA5617510	427	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756095494 CA211712789	427	P>T		No	ClinGen ExAC gnomAD
CA377677606 rs1564732433	431	G>A		No	ClinGen Ensembl
TCGA novel	432	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211711577 rs868584215	433	R>*		No	ClinGen TOPMed gnomAD
CA5617491 rs748167187	433	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA211711537 rs866496314	436	A>G		No	ClinGen gnomAD
rs755161565 CA5617489	436	A>S		No	ClinGen ExAC gnomAD
rs755161565 CA5617490	436	A>T		No	ClinGen ExAC gnomAD
rs866496314 CA211711527	436	A>V		No	ClinGen gnomAD
CA5617488 rs372999683	438	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465600544 CA377677568	438	E>Q		No	ClinGen TOPMed gnomAD
CA5617485 rs143038562	442	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5617484 rs138495387	442	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA211711468 rs138495387	442	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs762150516 CA5617482	443	M>I		No	ClinGen ExAC gnomAD
rs369600584 CA5617483	443	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs754390283 CA377677525	445	L>V		No	ClinGen ExAC TOPMed gnomAD
CA377677488 rs1204450867	450	T>N		No	ClinGen TOPMed gnomAD
rs993994200 CA211711451	451	T>A		No	ClinGen Ensembl
CA5617477 rs770284698	452	I>V		No	ClinGen ExAC gnomAD
rs772732311 CA5617475	454	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1293995825 CA377677469	454	Q>K		No	ClinGen TOPMed
rs1313168914 CA377677455	455	N>K		No	ClinGen gnomAD
CA377677428 rs1384731839	459	K>T		No	ClinGen gnomAD
rs1589434751 CA377677417	461	V>F		No	ClinGen Ensembl
VAR_075547	461	V>del	allele CYP2C8*12; increases enzymatic activity with paclitaxel as substrate; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine [UniProt]	No	UniProt
rs754717779 CA211711414	462	D>A		No	ClinGen Ensembl
rs769773346 CA5617471	466	N>Y		No	ClinGen ExAC gnomAD
rs781321835 CA5617469	468	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753802612 CA5617468	469	T>N		No	ClinGen ExAC TOPMed gnomAD
CA377677357 rs1446013773	470	T>A		No	ClinGen gnomAD
CA377677353 rs1257323911	470	T>I		No	ClinGen gnomAD
rs1185064568 CA377677350	471	A>S		No	ClinGen TOPMed
CA5617467 rs529725725	472	V>I		No	ClinGen 1000Genomes ExAC
CA5617465 rs780198250	473	T>A		No	ClinGen ExAC gnomAD
rs1479964794 CA377677339	473	T>N		No	ClinGen gnomAD
CA211711385 rs1016828529	474	K>R		No	ClinGen TOPMed gnomAD
CA211711384 rs868818549	475	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA377677329 rs1206026036	475	G>R		No	ClinGen gnomAD
rs1289596203 CA377677320	476	I>T		No	ClinGen gnomAD
rs758345299 CA5617464	477	V>A		No	ClinGen ExAC gnomAD
CA211711383 rs866725748	477	V>I		No	ClinGen Ensembl
rs1360377722 CA377677312	478	S>P		No	ClinGen gnomAD
TCGA novel	479	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377677302 rs1387989422	480	P>T		No	ClinGen TOPMed
rs1371158132 CA377677294	481	P>H		No	ClinGen TOPMed gnomAD
CA5617463 rs376016142	481	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5617462 rs778978318	482	S>L		No	ClinGen ExAC gnomAD
CA377677281 rs1364415240	483	Y>*		No	ClinGen TOPMed gnomAD
CA5617461 rs757657903	483	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs764390443 CA5617460	484	Q>*		No	ClinGen ExAC gnomAD
rs1051582714 CA211711329	484	Q>H		No	ClinGen TOPMed gnomAD
rs764390443 CA5617459	484	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	485	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377677262 rs1368648999	486	C>F		No	ClinGen gnomAD
rs1453892096 CA377677258	487	F>L		No	ClinGen TOPMed
CA377677248 rs1317402551	488	I>N		No	ClinGen TOPMed
CA5617456 rs140481138	489	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377677240 rs140481138	489	P>R		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with P10632

1 regional properties for P10632

Type	Name	Position	InterPro Accession
conserved_site	Cytochrome P450, conserved site	428 - 437	IPR017972

Functions

		Description
EC Number	1.14.14.1	With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
Subcellular Localization	Endoplasmic reticulum membrane; Peripheral membrane protein Microsome membrane; Peripheral 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.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma 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.

10 GO annotations of molecular function

Name	Definition
arachidonic acid epoxygenase activity	Catalysis of an NADPH- and oxygen-dependent reaction that converts arachidonic acid to a cis-epoxyeicosatrienoic acid.
aromatase activity	Catalysis of the reduction of an aliphatic ring to yield an aromatic ring.
caffeine oxidase activity	Catalysis of the reaction: caffeine + O2 + 2 H+ + 2 e- = 1,3,7-trimethyluric acid + H2O.
estrogen 16-alpha-hydroxylase activity	Catalysis of the reaction: estrogen + donor-H2 + O2 = 16-alpha-hydroxyestrogen + H2O.
heme binding	Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
iron ion binding	Binding to an iron (Fe) ion.
monooxygenase activity	Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water.
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor.
retinoic acid 4-hydroxylase activity	Catalysis of the conversion of retinoic acid to 4-hydroxy-retinoic acid.
steroid hydroxylase activity	Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2.

13 GO annotations of biological process

Name	Definition
epoxygenase P450 pathway	The chemical reactions and pathways by which arachidonic acid is converted to other compounds including epoxyeicosatrienoic acids and dihydroxyeicosatrienoic acids.
estrogen metabolic process	The chemical reactions and pathways involving estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants.
icosanoid biosynthetic process	The chemical reactions and pathways resulting in the formation of icosanoids, any of a group of C20 polyunsaturated fatty acids.
lipid hydroxylation	The covalent attachment of a hydroxyl group to one or more fatty acids in a lipid.
long-chain fatty acid biosynthetic process	The chemical reactions and pathways resulting in the formation of long-chain fatty acids, any fatty acid with a chain length between C13 and C22.
omega-hydroxylase P450 pathway	The chemical reactions and pathways by which arachidonic acid is converted to other compounds initially by omega-hydroxylation.
organic acid metabolic process	The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage.
oxidative demethylation	The process of removing one or more methyl groups from a molecule, involving the oxidation (i.e. electron loss) of one or more atoms in the substrate.
retinoic acid metabolic process	The chemical reactions and pathways involving retinoic acid, one of the three components that makes up vitamin A.
retinol metabolic process	The chemical reactions and pathways involving retinol, one of the three compounds that makes up vitamin A.
steroid metabolic process	The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.
xenobiotic catabolic process	The chemical reactions and pathways resulting in the breakdown of a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
xenobiotic metabolic process	The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

52 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q0IIF9	CYP2U1	Cytochrome P450 2U1	Bos taurus (Bovine)	PR
O18963	CYP2E1	Cytochrome P450 2E1	Bos taurus (Bovine)	PR
P12394	CYP17A1	Steroid 17-alpha-hydroxylase/17,20 lyase	Gallus gallus (Chicken)	PR
Q95078	Cyp18a1	Cytochrome P450 18a1	Drosophila melanogaster (Fruit fly)	PR
P05177	CYP1A2	Cytochrome P450 1A2	Homo sapiens (Human)	PR
P05093	CYP17A1	Steroid 17-alpha-hydroxylase/17,20 lyase	Homo sapiens (Human)	PR
P33260	CYP2C18	Cytochrome P450 2C18	Homo sapiens (Human)	PR
P05181	CYP2E1	Cytochrome P450 2E1	Homo sapiens (Human)	PR
P51589	CYP2J2	Cytochrome P450 2J2	Homo sapiens (Human)	PR
Q7Z449	CYP2U1	Cytochrome P450 2U1	Homo sapiens (Human)	PR
Q9D816	Cyp2c55	Cytochrome P450 2C55	Mus musculus (Mouse)	PR
P27786	Cyp17a1	Steroid 17-alpha-hydroxylase/17,20 lyase	Mus musculus (Mouse)	PR
O54749	Cyp2j5	Cytochrome P450 2J5	Mus musculus (Mouse)	PR
O54750	Cyp2j6	Cytochrome P450 2J6	Mus musculus (Mouse)	PR
P24456	Cyp2d10	Cytochrome P450 2D10	Mus musculus (Mouse)	PR
Q9CX98	Cyp2u1	Cytochrome P450 2U1	Mus musculus (Mouse)	PR
P24457	Cyp2d11	Cytochrome P450 2D11	Mus musculus (Mouse)	PR
P79383	CYP2E1	Cytochrome P450 2E1	Sus scrofa (Pig)	PR
P33273	Cyp2c55	Cytochrome P450 2C55	Rattus norvegicus (Rat)	PR
P05182	Cyp2e1	Cytochrome P450 2E1	Rattus norvegicus (Rat)	PR
P24470	Cyp2c23	Cytochrome P450 2C23	Rattus norvegicus (Rat)	PR
P11715	Cyp17a1	Steroid 17-alpha-hydroxylase/17,20 lyase	Rattus norvegicus (Rat)	PR
P12939	Cyp2d10	Cytochrome P450 2D10	Rattus norvegicus (Rat)	PR
P10633	Cyp2d1	Cytochrome P450 2D1	Rattus norvegicus (Rat)	PR
P05179	Cyp2c7	Cytochrome P450 2C7	Rattus norvegicus (Rat)	PR
P12938	Cyp2d3	Cytochrome P450 2D3	Rattus norvegicus (Rat)	PR
O35293	Cyp2f2	Cytochrome P450 2F2	Rattus norvegicus (Rat)	PR
P20814	Cyp2c13	Cytochrome P450 2C13, male-specific	Rattus norvegicus (Rat)	PR
Q8HYM9	CYP17A1	Steroid 17-alpha-hydroxylase/17,20 lyase	Macaca mulatta (Rhesus macaque)	PR
Q6YV88	CYP71Z7	Ent-cassadiene hydroxylase	Oryza sativa subsp japonica (Rice)	PR
A3A871	CYP71Z6	Ent-isokaurene C2/C3-hydroxylase	Oryza sativa subsp japonica (Rice)	PR
Q7X7X4	CYP99A2	Cytochrome P450 99A2	Oryza sativa subsp japonica (Rice)	PR
O48957	CYP99A1	Cytochrome P450 CYP99A1	Sorghum bicolor (Sorghum) (Sorghum vulgare)	PR
Q42797	CYP73A11	Trans-cinnamate 4-monooxygenase	Glycine max (Soybean) (Glycine hispida)	PR
Q9XHC6	CYP93E1	Beta-amyrin 24-hydroxylase	Glycine max (Soybean) (Glycine hispida)	PR
O81971	CYP71D9	Cytochrome P450 71D9	Glycine max (Soybean) (Glycine hispida)	PR
O48922	CYP98A2	Cytochrome P450 98A2	Glycine max (Soybean) (Glycine hispida)	PR
O49340	CYP71A12	Cytochrome P450 71A12	Arabidopsis thaliana (Mouse-ear cress)	PR
O64638	CYP76C3	Cytochrome P450 76C3	Arabidopsis thaliana (Mouse-ear cress)	PR
P58049	CYP71B11	Cytochrome P450 71B11	Arabidopsis thaliana (Mouse-ear cress)	PR
P58050	CYP71B13	Cytochrome P450 71B13	Arabidopsis thaliana (Mouse-ear cress)	PR
Q96514	CYP71B7	Cytochrome P450 71B7	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9CA61	CYP98A8	Cytochrome P450 98A8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LTM0	CYP71B23	Cytochrome P450 71B23	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LTM6	CYP71B17	Cytochrome P450 71B17	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LTM7	CYP71B16	Cytochrome P450 71B16	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LVD2	CYP71B10	Cytochrome P450 71B10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SAE4	CYP71B29	Cytochrome P450 71B29	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SRQ1	CYP89A9	Cytochrome P450 89A9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9ZU07	CYP71B12	Cytochrome P450 71B12	Arabidopsis thaliana (Mouse-ear cress)	PR
O64636	CYP76C1	Cytochrome P450 76C1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q949U1	CYP79F1	Dihomomethionine N-hydroxylase	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEPFVVLVLC	LSFMLLFSLW	RQSCRRRKLP	PGPTPLPIIG	NMLQIDVKDI	CKSFTNFSKV
70	80	90	100	110	120
YGPVFTVYFG	MNPIVVFHGY	EAVKEALIDN	GEEFSGRGNS	PISQRITKGL	GIISSNGKRW
130	140	150	160	170	180
KEIRRFSLTT	LRNFGMGKRS	IEDRVQEEAH	CLVEELRKTK	ASPCDPTFIL	GCAPCNVICS
190	200	210	220	230	240
VVFQKRFDYK	DQNFLTLMKR	FNENFRILNS	PWIQVCNNFP	LLIDCFPGTH	NKVLKNVALT
250	260	270	280	290	300
RSYIREKVKE	HQASLDVNNP	RDFIDCFLIK	MEQEKDNQKS	EFNIENLVGT	VADLFVAGTE
310	320	330	340	350	360
TTSTTLRYGL	LLLLKHPEVT	AKVQEEIDHV	IGRHRSPCMQ	DRSHMPYTDA	VVHEIQRYSD
370	380	390	400	410	420
LVPTGVPHAV	TTDTKFRNYL	IPKGTTIMAL	LTSVLHDDKE	FPNPNIFDPG	HFLDKNGNFK
430	440	450	460	470	480
KSDYFMPFSA	GKRICAGEGL	ARMELFLFLT	TILQNFNLKS	VDDLKNLNTT	AVTKGIVSLP

PSYQICFIPV