AiPD: Autoinhibited Protein Database

P35558

Gene name	PCK1
Protein name	Phosphoenolpyruvate carboxykinase, cytosolic [GTP]
Names	PEPCK-C, Serine-protein kinase PCK1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5105
EC number	4.1.1.32: Carboxy-lyases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-46 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-46 (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

8 structures for P35558

Entry ID	Method	Resolution	Chain	Position	Source
1KHB	X-ray	185 A	A	1-622	PDB
1KHE	X-ray	240 A	A	1-622	PDB
1KHF	X-ray	202 A	A	1-622	PDB
1KHG	X-ray	234 A	A	1-622	PDB
1M51	X-ray	225 A	A	1-622	PDB
1NHX	X-ray	210 A	A	1-622	PDB
2GMV	X-ray	230 A	A/B	1-622	PDB
AF-P35558-F1	Predicted				AlphaFoldDB

631 variants for P35558

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000970554 rs147120329 CA9921868 RCV001138455	3	P>S	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001856773 CA9921882 rs140235265 RCV001138457	22	S>G	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA9921903 rs202197769 VAR_079633 RCV000509046	45	I>T	Phosphoenolpyruvate carboxykinase deficiency, cytosolic PCKDC; decreased stability; no effect on phosphoenolpyruvate carboxykinase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_021073 CA9921910 RCV000966091 RCV000276747 rs28383586	60	M>T	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000317421 rs147273759 CA10652660 RCV002523167	68	R>L	Phosphoenolpyruvate carboxykinase deficiency, cytosolic Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002523168 RCV000372126 CA9921942 rs139008325	76	W>C	Phosphoenolpyruvate carboxykinase (GTP) deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs28359542 RCV000971974 VAR_021074 CA9922004 RCV001141020	138	T>I	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199822253 RCV001142874 CA9922045 COSM253800 RCV001858935	174	T>M	urinary_tract Phosphoenolpyruvate carboxykinase deficiency, cytosolic [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA9922055 rs367998997 RCV000343219 COSM3799695 RCV001861167	180	V>I	Variant assessed as Somatic; 0.0 impact. urinary_tract Phosphoenolpyruvate carboxykinase deficiency, cytosolic [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_021075 RCV001672595 CA9922057 RCV000990319 rs707555 CA409435221	184	V>L	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000981775 rs11552146 CA9922059 RCV000288848	186	D>N	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001856766 CA9922064 rs139125510 RCV001138125 RCV002556939	193	L>F	Phosphoenolpyruvate carboxykinase deficiency, cytosolic Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA316279495 rs139902878 RCV001138127	239	S>L	Variant assessed as Somatic; 0.0 impact. Phosphoenolpyruvate carboxykinase deficiency, cytosolic [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP NCI-TCGA TOPMed dbSNP gnomAD
RCV002550681 CA9922132 rs373906233 RCV000995596	242	G>R	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001138128 rs763473369 CA9922133	245	C>G	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001723938 RCV000406471 VAR_015575 rs8192708 CA9922170	267	I>V	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748437548 RCV000779351 RCV001824370	275	G>missing	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinVar dbSNP
VAR_021076 RCV000308757 CA9922176 RCV001653640 rs11552145	276	E>K	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002520023 rs61760967 CA9922197 RCV000390763	300	L>F	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9922201 CA9922200 RCV001138564 rs200817092	302	G>R	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP
RCV001861168 RCV000509043 VAR_079634 CA9922209 COSM1261521 rs201186470	309	G>R	oesophagus Phosphoenolpyruvate carboxykinase deficiency, cytosolic PCKDC; unknown pathological significance; decreased phosphoenolpyruvate carboxykinase activity [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9922214 RCV001141126 rs747438321	319	A>T	Variant assessed as Somatic; 0.0 impact. Phosphoenolpyruvate carboxykinase deficiency, cytosolic [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_021077 CA9922273 RCV002057743 RCV000260817 rs1804160	368	V>I	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000356891 rs368426390 CA10644146	403	N>D	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar ESP dbSNP
rs149472972 CA9922323 RCV001142974	404	S>L	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_079635	440	G>del	PCKDC; decreased phosphoenolpyruvate carboxykinase activity [UniProt]	Yes	UniProt
RCV001142976 RCV000960533 CA9922403 rs41302559	483	R>Q	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM254889 rs267606016 RCV000261859 CA10602380	513	H>Y	urinary_tract Phosphoenolpyruvate carboxykinase deficiency, cytosolic [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
CA9922421 rs768176085 RCV001142977	518	R>Q	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000321976 CA9922438 RCV000960494 rs148684857	548	A>T	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000267912 rs762446688 CA9922441	553	T>M	Variant assessed as Somatic; 0.0 impact. Phosphoenolpyruvate carboxykinase deficiency, cytosolic [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1256902604 RCV001138236 CA409437722	563	A>V	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA9922454 rs34103538 RCV000381354 RCV000949099	579	S>R	Phosphoenolpyruvate carboxykinase deficiency, cytosolic [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773579508 CA409434021	6	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA9921872 rs202045983	8	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA316277575 rs944002960	8	G>V		No	ClinGen TOPMed gnomAD
rs759779360 CA9921874	9	L>P		No	ClinGen ExAC TOPMed gnomAD
CA316277584 rs954837713	10	N>S		No	ClinGen TOPMed
rs954837713 CA409434065	10	N>T		No	ClinGen TOPMed
CA9921875 rs146652385	11	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775667532 CA9921876	11	L>H		No	ClinGen ExAC gnomAD
rs548898026 CA9921878	12	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761860955 CA9921877	12	S>P		No	ClinGen ExAC gnomAD
rs61749691 CA9921880	15	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	15	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301087239 CA409434143	18	G>E		No	ClinGen TOPMed gnomAD
CA409434153 rs1405527615	19	S>R		No	ClinGen TOPMed gnomAD
rs1398258655 CA409434166	21	D>E		No	ClinGen TOPMed gnomAD
rs1334117927 CA409434163	21	D>G		No	ClinGen gnomAD
rs1325584679 CA409434160	21	D>H		No	ClinGen gnomAD
rs1325584679 CA409434161	21	D>Y		No	ClinGen gnomAD
CA409434172 rs1280296599	22	S>R		No	ClinGen gnomAD
rs754595324 CA9921883	23	L>P		No	ClinGen ExAC gnomAD
CA9921886 rs756617885	24	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1291553333 CA409434185	25	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	28	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749787404 CA9921888	31	L>R		No	ClinGen ExAC gnomAD
CA409434231 rs779302768	32	E>*		No	ClinGen ExAC TOPMed gnomAD
rs557851089 CA9921891	32	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA9921890 rs779302768	32	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9921892 rs772368340	33	N>K		No	ClinGen ExAC gnomAD
CA9921893 rs200771350	34	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs768856249 CA9921895	35	A>S		No	ClinGen ExAC TOPMed gnomAD
CA316277671 rs768856249	35	A>T		No	ClinGen ExAC TOPMed gnomAD
CA409434254 rs1384436537	35	A>V		No	ClinGen gnomAD
rs762929030 CA9921897	36	E>K		No	ClinGen ExAC gnomAD
rs1394259521 CA409434268	38	C>R		No	ClinGen gnomAD
CA316277699 rs6128079	40	P>L		No	ClinGen Ensembl
rs6128079 CA409434286	40	P>R		No	ClinGen Ensembl
rs1004704491 CA316277694	40	P>T		No	ClinGen Ensembl
rs111327069 CA316277706	41	D>G		No	ClinGen Ensembl
CA9921898 rs148380007	41	D>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA409434297 rs1329652569	42	H>L		No	ClinGen gnomAD
rs751329147 CA9921899	42	H>N		No	ClinGen ExAC
CA9921901 rs767089672	43	I>V		No	ClinGen ExAC gnomAD
rs144360449 CA9921902	44	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777314725 CA9921904	46	C>S		No	ClinGen ExAC TOPMed gnomAD
CA9921906 rs542465770	48	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1238296849 CA409434351	50	E>D		No	ClinGen gnomAD
CA316277749 rs1011110192 COSM1533936	52	E>D	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs893537181 CA316277748	52	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1194696584	52	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs28383585 CA9921908 VAR_021072	55	R>Q		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA9921907 COSM1028388 rs373529977	55	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA316277755 rs193008342	56	L>P		No	ClinGen 1000Genomes
rs1392559512 CA409434398	58	G>A		No	ClinGen TOPMed
rs1189382908 CA409434396	58	G>R		No	ClinGen gnomAD
rs1462472069 CA409434416	61	E>K		No	ClinGen TOPMed
CA9921911 rs747223260	62	E>D		No	ClinGen ExAC gnomAD
rs768909401 CA9921912	64	G>A		No	ClinGen ExAC TOPMed gnomAD
rs768909401 CA409434442	64	G>V		No	ClinGen ExAC TOPMed gnomAD
rs200152114 CA409434445	65	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs991179342 CA316277788	65	I>T		No	ClinGen Ensembl
rs200152114 CA9921913	65	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs147273759 CA9921916	68	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9921915 COSM3799694 rs369101907	68	R>W	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA409434469 rs1405681647	70	K>Q		No	ClinGen TOPMed gnomAD
CA9921918 rs767286091	71	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	71	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs977565806 CA316277810	72	Y>*		No	ClinGen Ensembl
rs1221803831 CA409434498	73	D>E		No	ClinGen TOPMed
CA409434499 rs1349692419	74	N>D		No	ClinGen TOPMed
COSM1681789 rs775170603 CA409434511	75	C>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA409434525 rs1157282768	75	C>W		No	ClinGen gnomAD
CA9921919 rs775170603	75	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs139008325 CA9921943	76	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA409434531 rs1600706208	76	W>L		No	ClinGen Ensembl
CA409434539 rs1420632105	77	L>F		No	ClinGen gnomAD
rs1360980675 CA409434557	80	T>I		No	ClinGen gnomAD
CA9921947 rs755169252 CA409434576	83	R>S		No	ClinGen ExAC TOPMed gnomAD
rs376452415 CA9921946	83	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs267606015 CA9921950	89	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	90	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9921951 rs149718395	92	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9921952 rs149718395	92	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149718395 CA316278253	92	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9921954 rs779834833	93	V>I		No	ClinGen ExAC gnomAD
rs536299130 CA9921956	95	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9921957 rs776407163	96	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1489833023 CA409434656	96	T>S		No	ClinGen TOPMed gnomAD
CA409434706 rs1216729199	103	V>L		No	ClinGen TOPMed
CA9921962 rs766936971	104	P>S		No	ClinGen ExAC gnomAD
CA409434715 rs1440586457	105	I>L		No	ClinGen gnomAD
CA409434726 rs1383834419	106	P>L		No	ClinGen TOPMed gnomAD
CA9921964 rs760002281	107	K>E		No	ClinGen ExAC gnomAD
TCGA novel	107	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	108	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767751310 CA9921965	109	G>S		No	ClinGen ExAC gnomAD
CA409434748 rs1295975416	110	L>F		No	ClinGen gnomAD
CA9921967 rs756249268	114	G>S		No	ClinGen ExAC gnomAD
rs184086519 COSM4164768 CA9921968	115	R>H	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA409434787 rs1357097418	116	W>*		No	ClinGen gnomAD
rs753854018 CA9921969	117	M>I		No	ClinGen ExAC gnomAD
CA409434808 rs1161582719	119	E>K		No	ClinGen gnomAD
rs758332173 CA9921970	119	E>V		No	ClinGen ExAC gnomAD
CA409434829 rs1304006621	121	D>E		No	ClinGen TOPMed
rs1202483843 CA409434826	121	D>G		No	ClinGen gnomAD
CA409434849 rs1390250073	124	K>T		No	ClinGen gnomAD
rs373113903 CA409434854	125	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs373113903 CA9921972	125	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs768548800 CA9921973	125	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9921975 rs747868874	127	N>D		No	ClinGen ExAC gnomAD
TCGA novel	128	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1171365893 CA409434896	131	P>S		No	ClinGen TOPMed
rs1167673607 CA409434911	133	C>F		No	ClinGen gnomAD
rs772863724 CA9921977	134	M>T		No	ClinGen ExAC
CA409434914 rs1398991584	134	M>V		No	ClinGen gnomAD
CA9922002 rs141813623	137	R>C		No	ClinGen ESP ExAC gnomAD
rs150560473 COSM578044 CA9922003	137	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs754957616 CA9922007	139	M>I		No	ClinGen ExAC gnomAD
rs750424968 CA409434960	139	M>K		No	ClinGen ExAC TOPMed
CA9922006 rs750424968	139	M>T		No	ClinGen ExAC TOPMed
rs1005296621 CA316278792	141	V>A		No	ClinGen Ensembl
CA409434972 rs752677950	141	V>F		No	ClinGen ExAC gnomAD
rs752677950 CA9922009	141	V>I		No	ClinGen ExAC gnomAD
rs1390925507 CA409435005	146	M>L		No	ClinGen TOPMed
rs777678315 CA9922011	146	M>T		No	ClinGen ExAC TOPMed gnomAD
rs771118313 CA316278829	147	G>R		No	ClinGen Ensembl
rs756920795 CA9922013	148	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	148	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748977083 CA9922012	148	P>T		No	ClinGen ExAC gnomAD
CA9922016 rs771603187	151	S>L		No	ClinGen ExAC gnomAD
CA9922015 rs745305712	151	S>T		No	ClinGen ExAC gnomAD
CA409435042 rs1335000207	152	P>L		No	ClinGen TOPMed
CA409435046 rs1276772072	153	L>P		No	ClinGen TOPMed gnomAD
CA409435050 rs1600706720	154	S>A		No	ClinGen Ensembl
CA9922018 rs747489666	154	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776943310 CA9922020	155	K>E		No	ClinGen ExAC gnomAD
CA9922021 rs762049585	155	K>R		No	ClinGen ExAC gnomAD
rs149873355 CA9922022	156	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922025 rs144907840	156	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9922023 rs145580276	156	I>N		No	ClinGen 1000Genomes ExAC gnomAD
CA409435060 rs149873355	156	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs866524390 CA316278862	157	G>D		No	ClinGen TOPMed
CA9922026 rs752732225 COSM1028390	157	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs866524390 CA409435066	157	G>V		No	ClinGen TOPMed
CA9922029 rs764002893	158	I>M		No	ClinGen ExAC TOPMed gnomAD
CA9922027 rs756073673	158	I>V		No	ClinGen ExAC gnomAD
CA9922031 rs778493492	159	E>*		No	ClinGen ExAC TOPMed gnomAD
CA316278902 COSM1713715 rs778493492	159	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA409435087 rs149006114	161	T>K		No	ClinGen ESP TOPMed gnomAD
CA316278915 COSM1412685 rs149006114	161	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs1600706807 CA409435085	161	T>S		No	ClinGen Ensembl
CA409435090 rs1280567586	162	D>Y		No	ClinGen TOPMed
rs960583607 CA316278929	163	S>L		No	ClinGen TOPMed gnomAD
rs1387377616 CA409435103	164	P>S		No	ClinGen gnomAD
CA9922036 rs769106289	166	V>E		No	ClinGen ExAC gnomAD
rs368269624 CA409435115	166	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM2153160 rs368269624 CA9922035	166	V>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA409435119 rs748446228	167	V>L		No	ClinGen ExAC TOPMed gnomAD
rs748446228 CA9922038	167	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1264845362 CA409435128	168	A>V		No	ClinGen gnomAD
CA409435133 rs1342768636	169	S>N		No	ClinGen TOPMed gnomAD
rs1244247754 CA409435141	170	M>R		No	ClinGen gnomAD
CA9922042 rs375564832	171	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770190877 CA9922040	171	R>W		No	ClinGen ExAC TOPMed gnomAD
rs774522183 CA316278968	172	I>M		No	ClinGen ExAC gnomAD
CA409435171 rs761566552 COSM1681790	175	R>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761566552 CA9922049	175	R>P		No	ClinGen ExAC TOPMed gnomAD
rs761566552 CA9922048	175	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9922047 rs753818713	175	R>W		No	ClinGen ExAC gnomAD
CA409435176 rs1279102847	176	M>T		No	ClinGen TOPMed
rs1445934363 CA409435184	177	G>D		No	ClinGen TOPMed
rs758033067 CA409435190	178	T>K		No	ClinGen ExAC TOPMed gnomAD
rs758033067 CA9922052	178	T>M		No	ClinGen ExAC TOPMed gnomAD
rs373884006 CA316279006	179	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs373884006 CA409435192	179	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922053 rs373884006 COSM355156	179	P>T	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs367998997 CA409435196	180	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568908556 CA409435209	182	E>G		No	ClinGen Ensembl
TCGA novel	183	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312507533 CA409435214	183	A>T		No	ClinGen gnomAD
CA9922058 rs371728787	185	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs749492662 CA9922060	186	D>G		No	ClinGen ExAC gnomAD
rs1224037261 CA409435239	187	G>E		No	ClinGen TOPMed
CA409435258 rs1283838888	190	V>I		No	ClinGen TOPMed
rs759753630 CA9922063	191	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	191	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9922065 rs139125510	193	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922066 rs141485103	194	H>Q		No	ClinGen ESP ExAC TOPMed
CA409435287 rs1424340769	194	H>R		No	ClinGen gnomAD
CA409435291 rs1311305002	195	S>A		No	ClinGen TOPMed
CA9922067 rs374694652	196	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409435304 rs1366641082	197	G>A		No	ClinGen TOPMed
CA316279090 rs1056292955	198	C>R		No	ClinGen Ensembl
CA9922068 rs750185572	198	C>Y		No	ClinGen ExAC gnomAD
rs762530982 CA9922069	199	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA409435324 rs1468389269	201	P>A		No	ClinGen gnomAD
CA409435332 rs1343007370	202	L>S		No	ClinGen TOPMed
CA9922105 rs770754264	204	K>N		No	ClinGen ExAC TOPMed gnomAD
rs749159373 CA9922104	204	K>R		No	ClinGen ExAC gnomAD
rs774094154 CA9922107	205	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA9922106 rs774094154	205	P>R		No	ClinGen ExAC TOPMed
CA9922109 rs775000152	208	N>K		No	ClinGen ExAC gnomAD
CA9922110 rs760290328	209	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs763484889 CA409435399	211	P>S		No	ClinGen ExAC TOPMed gnomAD
rs763484889 CA9922111	211	P>T		No	ClinGen ExAC TOPMed gnomAD
rs150402740 CA9922112	212	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600707098 CA409435413	213	N>T		No	ClinGen Ensembl
rs765716997 CA9922114	214	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9922113 rs762366213	214	P>S		No	ClinGen ExAC gnomAD
CA9922116 rs377150721	217	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922119 rs755135303	220	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA409435465 rs1568908841	221	H>Q		No	ClinGen Ensembl
rs1424827116 CA409435460	221	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs781101554 CA9922120	222	L>R		No	ClinGen ExAC gnomAD
CA316279461 rs6092497	223	P>L		No	ClinGen Ensembl
TCGA novel	223	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9922122 rs770807520	225	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA316279462 rs770807520	225	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9922123 rs369153854	225	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA409435485 rs369153854	225	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349890290 CA409435486	226	R>G		No	ClinGen gnomAD
rs1462558793 CA409435488	226	R>K		No	ClinGen gnomAD
CA409435489 rs1462558793	226	R>T		No	ClinGen gnomAD
CA9922124 rs745728357	227	E>K		No	ClinGen ExAC gnomAD
TCGA novel	228	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9922126 rs775253048	233	S>N		No	ClinGen ExAC gnomAD
CA316279472 rs938359858	236	G>S		No	ClinGen TOPMed gnomAD
CA409435562 rs1415908197	237	G>E		No	ClinGen TOPMed
CA9922129 rs775952976	237	G>R		No	ClinGen ExAC TOPMed gnomAD
rs983640947 CA316279493	238	N>D		No	ClinGen gnomAD
rs1187137010 CA409435573	239	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1185656022 CA409435590	242	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA9922134 rs763473369	245	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1600707192 CA409435631	248	L>F		No	ClinGen Ensembl
rs781356801 CA9922137	249	R>W		No	ClinGen ExAC TOPMed gnomAD
CA409435647 rs756180362 CA9922139	250	M>I		No	ClinGen ExAC gnomAD
rs1568908939 CA409435643	250	M>L		No	ClinGen Ensembl
CA9922140 rs778879335	252	S>G		No	ClinGen ExAC TOPMed gnomAD
rs771938481 CA409435664	253	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9922142 rs771938481	253	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9922141 rs201972484	253	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409435677 rs1357261237	256	K>E		No	ClinGen gnomAD
CA409435702 rs1277594597	259	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9922143 rs779670565	259	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9922144 rs746694146	260	W>*		No	ClinGen ExAC gnomAD
rs1162862797 CA409435710	260	W>C		No	ClinGen TOPMed
CA409435707 rs1223456028	260	W>G		No	ClinGen gnomAD
rs1045010083 CA316279601	261	L>P		No	ClinGen Ensembl
rs1600707234 CA409435721	262	A>G		No	ClinGen Ensembl
rs1442268105 CA409435736	264	H>L		No	ClinGen gnomAD
CA409435733 rs1276770257	264	H>Y		No	ClinGen gnomAD
CA9922148 rs769418607	265	M>I		No	ClinGen ExAC gnomAD
CA9922147 rs141761035	265	M>T		No	ClinGen ESP ExAC TOPMed
CA9922146 rs200745451	265	M>V		No	ClinGen 1000Genomes ExAC
rs772810175 CA9922171	268	L>R		No	ClinGen ExAC gnomAD
CA409435769 rs1158038081	268	L>V		No	ClinGen gnomAD
rs749825944 CA9922172	270	I>V		No	ClinGen ExAC gnomAD
rs1012516112 CA316279960	271	T>N		No	ClinGen TOPMed gnomAD
CA409435794 rs774915631 CA9922174	272	N>K		No	ClinGen ExAC gnomAD
CA9922173 rs558731216	272	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1306089208 CA409435798	273	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1188847786 CA409435797	273	P>T		No	ClinGen TOPMed
rs1444690698 CA409435804	274	E>G		No	ClinGen TOPMed
TCGA novel	274	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA316279974 rs369202361	275	G>S		No	ClinGen ESP TOPMed gnomAD
CA316279980 rs371044564	277	K>N		No	ClinGen ExAC TOPMed
CA9922178 rs775729245	280	L>V		No	ClinGen ExAC gnomAD
CA409435852 rs200991428	281	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	281	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1261522 rs200991428 CA9922179	281	A>V	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs753855895 CA9922181	282	A>T		No	ClinGen ExAC gnomAD
rs758358426 CA9922182	282	A>V		No	ClinGen ExAC gnomAD
CA316280009 rs574265290	283	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9922184 rs574265290	283	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9922185 rs754779680	283	A>V		No	ClinGen ExAC gnomAD
rs752608038 CA316280027	284	F>S		No	ClinGen Ensembl
TCGA novel	285	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150928523 CA409435879	286	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM578041 CA9922188 rs747837917	287	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9922187 rs747837917	287	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA409435892 rs61760966	288	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9922190 rs748682003	289	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA409435907 rs1310396080	291	T>S		No	ClinGen gnomAD
CA409435918 rs1243174353	292	N>K		No	ClinGen gnomAD
CA409435916 rs1568909260	292	N>S		No	ClinGen Ensembl
CA9922194 rs772452343	294	A>D		No	ClinGen ExAC gnomAD
rs1163275323 CA409435927	294	A>S		No	ClinGen TOPMed
rs545773547 CA9922195 CA409435936	295	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA409435935 rs1236833914	295	M>R		No	ClinGen TOPMed
rs147749756 CA9922196	296	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922202 rs759511459	303	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA409435986 rs1185413351	303	W>*		No	ClinGen gnomAD
rs767446111 CA9922203	304	K>E		No	ClinGen ExAC gnomAD
rs752486702 CA9922204	305	V>F		No	ClinGen ExAC TOPMed gnomAD
CA9922205 rs201677393	306	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922206 rs777624810	307	C>R		No	ClinGen ExAC TOPMed gnomAD
rs777624810 CA409436010	307	C>S		No	ClinGen ExAC TOPMed gnomAD
rs45603039 CA9922207	308	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866799714 CA316280182	309	G>K		No	ClinGen Ensembl
TCGA novel	311	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746384406 CA9922210	313	A>S		No	ClinGen ExAC gnomAD
rs866379995 CA316280195	314	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1425979888 CA409436057	314	W>R		No	ClinGen TOPMed
CA9922211 rs772509055	315	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1410815147 CA409436101	320	Q>E		No	ClinGen TOPMed
rs1189769474 CA409436106	320	Q>H		No	ClinGen TOPMed
rs768997627 CA9922215	321	G>C		No	ClinGen ExAC
rs1393505094 CA409436140	324	R>K		No	ClinGen TOPMed
COSM109229 rs148387840 CA316280575	325	A>V	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA409436167 rs1198614575	328	P>S		No	ClinGen gnomAD
rs1320336027 CA409436175	329	E>G		No	ClinGen gnomAD
rs1396000578 CA409436188	331	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM724064 rs771109436 CA409436206	333	F>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs749448028 COSM724064 CA9922237	333	F>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA409436203 rs1157444307	333	F>Y		No	ClinGen gnomAD
rs775605946 CA9922239	334	G>S		No	ClinGen ExAC gnomAD
CA316280596 rs893585457	334	G>V		No	ClinGen Ensembl
COSM2764408 rs574426927 CA9922241	336	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9922243 rs148953365	337	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600707832 CA409436228	338	G>R		No	ClinGen Ensembl
CA9922245 rs750062061	339	T>I		No	ClinGen ExAC TOPMed gnomAD
CA409436247 rs1239154126	341	V>L		No	ClinGen Ensembl
CA409436257 rs757954228	342	K>N		No	ClinGen ExAC TOPMed gnomAD
rs553589410 CA9922248	344	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs533717610 CA9922247	344	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1216622701 CA409436276	345	P>L		No	ClinGen gnomAD
CA9922249 rs755464479	346	N>D		No	ClinGen ExAC gnomAD
CA9922250 rs781427561	347	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA316280621 rs777444169	347	A>V		No	ClinGen Ensembl
CA9922252 rs756433428	348	I>F		No	ClinGen ExAC gnomAD
CA409436293 rs1455891265	348	I>M		No	ClinGen gnomAD
rs576636213 CA9922253	349	K>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	349	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9922256 rs771162629	352	Q>K		No	ClinGen ExAC gnomAD
CA409436332 rs1159209007	354	N>T		No	ClinGen gnomAD
CA9922257 rs143715557	355	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922258 rs746953160	356	I>V		No	ClinGen ExAC gnomAD
CA9922259 rs545533074	358	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1476671696 CA409436377	361	A>P		No	ClinGen gnomAD
rs368785323 COSM1028400 CA316280681	362	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
rs1376085806 CA409436391	363	T>N		No	ClinGen gnomAD
rs562622556 CA9922263	364	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA9922262 rs562622556	364	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs185439146 CA9922265 CA9922264	364	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409436401 rs1244133567	365	D>G		No	ClinGen gnomAD
CA9922266 rs751016777 COSM1713716	365	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9922268 rs148075029	366	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922269 rs753133356	366	G>V		No	ClinGen ExAC gnomAD
CA9922270 rs756539195	367	G>C		No	ClinGen ExAC gnomAD
CA9922271 rs778239411	367	G>D		No	ClinGen ExAC gnomAD
CA316280752 rs973853096	369	Y>*		No	ClinGen gnomAD
rs746027185 CA9922275	369	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA409436446 rs1465588549	372	G>D		No	ClinGen gnomAD
CA409436442 rs1462643994	372	G>R		No	ClinGen gnomAD
rs772030034 CA9922276	373	I>S		No	ClinGen ExAC gnomAD
rs772030034 CA9922277	373	I>T		No	ClinGen ExAC gnomAD
CA409436452 rs1298925180	374	D>N		No	ClinGen gnomAD
CA409436461 rs1600707936	375	E>Q		No	ClinGen Ensembl
rs144845374 CA9922280	376	P>L		No	ClinGen ESP ExAC gnomAD
CA9922283 rs376361752	380	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA409436498 rs1207035390	381	V>A		No	ClinGen gnomAD
COSM1028402 CA9922285 rs766917599	381	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9922286 rs369625007	383	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs745989703 CA316280789	383	I>N		No	ClinGen TOPMed gnomAD
CA409436507 rs369625007	383	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186627076 CA409436516	384	T>M		No	ClinGen TOPMed gnomAD
rs1487687043 CA409436522	385	S>F		No	ClinGen TOPMed
CA9922289 rs754185331	386	W>*		No	ClinGen ExAC gnomAD
rs764562797 CA9922288	386	W>R		No	ClinGen ExAC gnomAD
CA409436543 rs1418324682	388	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs757690926 CA9922290	390	E>K		No	ClinGen ExAC TOPMed gnomAD
CA409436566 rs1357380469	391	W>C		No	ClinGen gnomAD
rs779335003 CA9922291	391	W>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	392	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409436590 rs1433961209	394	E>D		No	ClinGen TOPMed gnomAD
rs1224527562 CA409436583	394	E>K		No	ClinGen TOPMed
rs750586126 CA9922292	395	D>G		No	ClinGen ExAC TOPMed gnomAD
CA409436591 rs1313564970	395	D>N		No	ClinGen gnomAD
CA409436620 rs1338587290	397	E>D		No	ClinGen TOPMed
rs376297762 CA409436623	398	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs778520298 CA9922318	398	P>H		No	ClinGen ExAC TOPMed gnomAD
rs778520298 CA9922317	398	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376297762 CA9922316	398	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771553762 CA9922319	399	C>*		No	ClinGen ExAC TOPMed gnomAD
CA409436635 rs146241929	400	A>D		No	ClinGen ESP gnomAD
rs146241929 CA316280982	400	A>V		No	ClinGen ESP gnomAD
CA409436640 rs1193991455	401	H>P		No	ClinGen gnomAD
rs1193991455 CA409436641	401	H>R		No	ClinGen gnomAD
CA9922321 rs142010387	403	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9922322 rs768259677	404	S>A		No	ClinGen ExAC gnomAD
CA409436666 rs1600708096	405	R>S		No	ClinGen Ensembl
CA9922326 rs765721123	406	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1439030055 CA409436686	408	T>N		No	ClinGen gnomAD
rs763241947 CA9922327	408	T>P		No	ClinGen ExAC gnomAD
rs766581079 CA9922328	409	P>L		No	ClinGen ExAC gnomAD
rs1568909904 CA409436689	409	P>T		No	ClinGen Ensembl
CA9922329 rs751797494	411	S>R		No	ClinGen ExAC gnomAD
CA316281044 rs935836462	412	Q>*		No	ClinGen TOPMed
rs767556020 CA409436719	413	C>*		No	ClinGen ExAC TOPMed gnomAD
CA409436725 rs1280643956	414	P>R		No	ClinGen gnomAD
CA409436730 rs1367496165	415	I>N		No	ClinGen TOPMed gnomAD
rs1367496165 CA409436732	415	I>S		No	ClinGen TOPMed gnomAD
CA9922332 rs569350822	416	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9922333 rs143952631	417	D>V		No	ClinGen ESP ExAC gnomAD
rs537836747 CA316281093	418	A>S		No	ClinGen 1000Genomes
CA409436751 rs1270924804	418	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA409436757 rs1355790198	419	A>V		No	ClinGen TOPMed
rs1214113189 CA409436759	420	W>R		No	ClinGen gnomAD
rs1314250003 CA409436769 COSM374803	421	E>*	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs148603002 CA9922335	423	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1254579379 CA409436783	423	P>S		No	ClinGen gnomAD
CA409436794 rs1364289010	425	G>S		No	ClinGen TOPMed gnomAD
rs1471222759 CA409436800	426	V>I		No	ClinGen gnomAD
rs28359550 RCV000966287 VAR_021078 CA9922337	427	P>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs950094023 CA316281105	428	I>V		No	ClinGen gnomAD
rs1219103803 CA409436830	430	G>V		No	ClinGen gnomAD
CA316281108 rs901420260	432	I>M		No	ClinGen TOPMed
rs147359920 CA316281110	433	F>S		No	ClinGen ESP TOPMed
CA9922338 rs141020523	435	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922340 rs200480357	436	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922341 rs112632361	436	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3963705 CA409436878 rs1338015823	438	P>H	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs770133234 CA9922342	439	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773766733 CA9922343	439	A>V		No	ClinGen ExAC gnomAD
CA9922365 rs151290242	440	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922364 rs151290242	440	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600708390 CA409436909	442	P>R		No	ClinGen Ensembl
CA9922367 rs749773218	444	V>L		No	ClinGen ExAC gnomAD
rs1194361076 CA409436942	447	A>V		No	ClinGen gnomAD
rs771234718 CA9922368	448	L>P		No	ClinGen ExAC gnomAD
rs150001707 CA409436976	452	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922369 rs150001707	452	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs759756341 CA9922370	453	G>A	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9922372 rs368610566	456	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs760715742 CA9922373	457	G>E		No	ClinGen ExAC gnomAD
TCGA novel	458	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9922374 rs372883844	458	A>T		No	ClinGen ESP ExAC
CA9922375 rs370747699	458	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9922377 rs766102409	459	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751333880 CA9922378	460	M>L		No	ClinGen ExAC gnomAD
rs1348451524 CA409437029	461	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9922379 rs754818871	462	S>*		No	ClinGen ExAC gnomAD
CA9922380 rs376043660	463	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1485583612 CA409437050 COSM218632	464	A>V	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	466	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs548285338 CA9922382	466	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9922381 rs548285338	466	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	467	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409437061 rs1358012223	467	A>T		No	ClinGen gnomAD
rs1600708441 CA409437070	468	A>G		No	ClinGen Ensembl
rs373827777 CA9922385	468	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	471	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs965842269 CA316282088	472	G>D		No	ClinGen TOPMed
CA316281756 rs1001912906	472	G>S		No	ClinGen TOPMed
TCGA novel	473	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1159139755 CA409437112	473	K>Q		No	ClinGen gnomAD
TCGA novel	474	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9922399 rs767392624	474	I>V		No	ClinGen ExAC TOPMed gnomAD
CA409437156 rs1446861074	478	D>E		No	ClinGen TOPMed
CA9922401 rs755746992	479	P>L	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA409437160 rs1207210140	479	P>S		No	ClinGen TOPMed
TCGA novel	481	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763513290 CA9922402	483	R>W		No	ClinGen ExAC gnomAD
CA9922404 rs756706610	484	P>T		No	ClinGen ExAC gnomAD
CA9922405 rs377174792	485	F>I		No	ClinGen ESP ExAC gnomAD
CA9922407 rs555506747	489	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs374878290 CA9922409	491	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1430110939 CA409437242	491	G>V		No	ClinGen TOPMed
rs1337464300 CA409437253	493	Y>H		No	ClinGen gnomAD
CA9922411 rs554489884	495	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748319385 CA9922412	496	H>R		No	ClinGen ExAC TOPMed gnomAD
CA409437279 rs1177287592	497	W>*		No	ClinGen gnomAD
rs907101906 CA316282220	497	W>C		No	ClinGen Ensembl
CA409437318 rs774473179	502	Q>H		No	ClinGen ExAC gnomAD
CA9922413 rs769973857	502	Q>R		No	ClinGen ExAC gnomAD
CA409437324 rs1600708598	503	H>R		No	ClinGen Ensembl
CA9922415 rs759509387	503	H>Y		No	ClinGen ExAC gnomAD
CA409437328 rs1406909923	504	P>S		No	ClinGen gnomAD
CA409437337 rs1353877376	505	A>G		No	ClinGen gnomAD
CA409437355 rs1309774756	508	L>Q		No	ClinGen gnomAD
rs1353709008 CA409437367	510	K>R		No	ClinGen gnomAD
rs140394821 CA316282239	511	I>F		No	ClinGen ESP gnomAD
rs1294175849 CA409437374	511	I>N		No	ClinGen gnomAD
CA409437383 rs1213200017	512	F>S		No	ClinGen gnomAD
CA9922418 rs760379277	513	H>Q		No	ClinGen ExAC gnomAD
CA9922419 rs763861186	515	N>T		No	ClinGen ExAC gnomAD
rs1278787584 CA409437408	516	W>L		No	ClinGen TOPMed gnomAD
CA9922420 rs753407393	518	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1473544189 CA409437439	520	D>E		No	ClinGen TOPMed gnomAD
CA409437433 rs1257814791	520	D>N		No	ClinGen gnomAD
CA409437443 rs1460259205	521	K>E		No	ClinGen TOPMed
rs918852913 CA409437456	522	E>D		No	ClinGen TOPMed
CA409437454 rs1242984982	522	E>V		No	ClinGen TOPMed
rs950208003 CA316282273	525	F>S		No	ClinGen TOPMed gnomAD
rs546079074 CA9922425	526	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1434213118 CA409437485	527	W>R		No	ClinGen gnomAD
rs145570510 CA9922426	528	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230588518 COSM256089 CA409437502	529	G>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs200656485 CA9922428	530	F>L		No	ClinGen ExAC gnomAD
CA9922429 rs748289347	531	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	531	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	532	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA316282312 rs536650413	532	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1314022576 CA409437515	532	E>K		No	ClinGen TOPMed
TCGA novel	535	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409437555 rs1360481396	538	E>Q		No	ClinGen TOPMed
CA409437576 rs1347732049	540	M>I		No	ClinGen gnomAD
rs377429546 CA9922430	540	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600708684 CA409437588	542	N>D		No	ClinGen Ensembl
COSM1261523 rs893084747 CA316282335	542	N>K	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
rs773381529 CA9922431	542	N>S		No	ClinGen ExAC gnomAD
CA9922433 rs373324803	543	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1028408 CA9922432 rs745817666	543	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA409437598 rs1445305797	544	I>F		No	ClinGen gnomAD
CA409437599 rs1385169175	544	I>N		No	ClinGen TOPMed
rs768301740 CA409437608	545	D>E		No	ClinGen ExAC gnomAD
rs202078062 CA9922435	545	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9922437 rs776375312	546	G>A		No	ClinGen ExAC gnomAD
CA409437616 rs1283262664	547	K>E		No	ClinGen TOPMed gnomAD
CA409437625 rs1600708711	548	A>D		No	ClinGen Ensembl
TCGA novel	548	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	549	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1029281359 CA316282372	550	T>A		No	ClinGen TOPMed
rs141743884 CA9922440	550	T>I		No	ClinGen ESP ExAC gnomAD
CA409437663 rs1275134005	554	P>R		No	ClinGen TOPMed
CA409437669 rs1220210881	555	I>T		No	ClinGen gnomAD
rs1220356303 CA409437675	556	G>V		No	ClinGen TOPMed
CA9922443 rs371151851	557	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317955321 CA409437682	557	Y>C		No	ClinGen gnomAD
rs752993638 CA9922446	559	P>L		No	ClinGen ExAC gnomAD
CA409437697 rs200640038	560	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA316282418 rs907601736	560	K>M		No	ClinGen gnomAD
CA9922447 rs200640038	560	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs961661732 CA316282424	561	E>D		No	ClinGen TOPMed
TCGA novel	561	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441101684 CA409437704	561	E>K		No	ClinGen TOPMed
CA409437713 rs1346573428	562	D>G		No	ClinGen TOPMed gnomAD
CA9922448 rs778009128	562	D>N		No	ClinGen ExAC TOPMed gnomAD
CA409437714 rs1346573428	562	D>V		No	ClinGen TOPMed gnomAD
rs1221541161 CA409437718	563	A>S		No	ClinGen TOPMed gnomAD
rs1221541161 CA409437719	563	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA316282450 rs374391997	568	G>S		No	ClinGen ESP TOPMed gnomAD
CA409437753 rs1329356295	568	G>V		No	ClinGen gnomAD
CA409437759 CA9922449 rs749433706	570	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1600708775 CA409437765	571	H>D		No	ClinGen Ensembl
rs1600708778 CA409437768	571	H>R		No	ClinGen Ensembl
rs1478309756 CA409437773	572	I>V		No	ClinGen gnomAD
rs1467864672 CA409437783	573	N>S		No	ClinGen TOPMed gnomAD
CA409437791 rs1248361136	574	M>T		No	ClinGen TOPMed gnomAD
rs199728493 CA9922451	574	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1600708791 CA409437797	575	M>K		No	ClinGen Ensembl
CA9922452 rs138431434	575	M>V		No	ClinGen ESP ExAC gnomAD
CA409437813 rs1409004157	577	L>F		No	ClinGen TOPMed gnomAD
CA409437811 rs1409004157	577	L>I		No	ClinGen TOPMed gnomAD
rs34103538 CA409437825	579	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367951958 CA316282515	579	S>N		No	ClinGen ESP
CA409437830 rs1600708822	579	S>R		No	ClinGen Ensembl
CA316282525 rs373655980	580	I>T		No	ClinGen ESP TOPMed gnomAD
rs371783318 CA9922455	580	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9922456 rs769502669	582	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	583	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_042444 CA316282571 rs1042529	586	E>D		No	ClinGen UniProt Ensembl dbSNP
CA316282553 rs201347603	586	E>G		No	ClinGen 1000Genomes
CA409437875 rs1278381131	586	E>K		No	ClinGen gnomAD
CA9922459 rs367756890	588	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350892794 CA409437888	588	E>K		No	ClinGen TOPMed
rs1333954446 CA409437902	590	E>Q		No	ClinGen gnomAD
CA316282617 rs893130686	591	D>A		No	ClinGen TOPMed gnomAD
CA409437912 rs893130686	591	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	591	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1054922986 CA316282626	592	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9922462 rs767941725	593	E>D		No	ClinGen ExAC gnomAD
CA9922461 rs201175342	593	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	594	K>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1473608434 CA409437946	596	L>P		No	ClinGen gnomAD
CA409437949 rs1186142819	597	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1042530 CA316282640	597	E>V		No	ClinGen Ensembl
rs1462320434 CA409437964	599	Q>K		No	ClinGen TOPMed gnomAD
CA9922464 rs753047154	601	N>S		No	ClinGen ExAC gnomAD
CA9922466 rs375658003	603	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370698333 CA409438000	604	L>F		No	ClinGen gnomAD
rs1411103055 CA409438005	605	P>A		No	ClinGen TOPMed gnomAD
CA9922467 rs200272426	606	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA409438010 rs200272426	606	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1354379102 CA409438012	606	C>Y		No	ClinGen gnomAD
CA9922468 rs757386984	608	I>T		No	ClinGen ExAC TOPMed gnomAD
rs17847705 CA409438032	609	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	609	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17847705 CA9922471	609	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9922473 rs373831494	610	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA409438050 rs1401473852 COSM1681792	611	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9922474 rs200805749	611	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1489385207	612	I>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA316282751 rs534579150	615	L>S		No	ClinGen 1000Genomes
CA409438095 rs1257102778	616	K>T		No	ClinGen gnomAD
CA409438126 rs1322202364	618	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9922477 CA9922478 rs770499580	621	Q>H		No	ClinGen ExAC gnomAD
rs1475283790 CA409438194	622	M>I		No	ClinGen gnomAD
CA409438189 rs1371766319	622	M>T		No	ClinGen gnomAD

1 associated diseases with P35558

[MIM: 261680]: Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC)

An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic dysfunction, failure to thrive, lactic acidosis, and elevated tricarboxylic acid intermediates, particularly fumarate, in urine. {ECO:0000269|PubMed:24863970, ECO:0000269|PubMed:26971250, ECO:0000269|PubMed:28216384}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic dysfunction, failure to thrive, lactic acidosis, and elevated tricarboxylic acid intermediates, particularly fumarate, in urine. {ECO:0000269|PubMed:24863970, ECO:0000269|PubMed:26971250, ECO:0000269|PubMed:28216384}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P35558

Type	Name	Position	InterPro Accession
conserved_site	Phosphoenolpyruvate carboxykinase, GTP-utilising, conserved site	284 - 292	IPR018091
domain	Phosphoenolpyruvate carboxykinase, C-terminal P-loop domain	260 - 618	IPR035077
domain	Phosphoenolpyruvate carboxykinase, GTP-utilising, N-terminal	29 - 256	IPR035078

Functions

		Description
EC Number	4.1.1.32	Carboxy-lyases
Subcellular Localization	Cytoplasm, cytosol Endoplasmic reticulum	Phosphorylation at Ser-90 promotes translocation to the endoplasmic reticulum
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 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.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

6 GO annotations of molecular function

Name	Definition
carboxylic acid binding	Binding to a carboxylic acid, an organic acid containing one or more carboxyl (COOH) groups or anions (COO-).
GTP binding	Binding to GTP, guanosine triphosphate.
magnesium ion binding	Binding to a magnesium (Mg) ion.
manganese ion binding	Binding to a manganese ion (Mn).
phosphoenolpyruvate carboxykinase (GTP) activity	Catalysis of the reaction: GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO2.
protein serine kinase activity (using GTP as donor)	Catalysis of the reactions: GTP + L-seryl- = GDP + H(+) + O-phospho-L-seryl-

19 GO annotations of biological process

Name	Definition
cellular response to dexamethasone stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dexamethasone stimulus.
cellular response to glucose stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.
cellular response to insulin stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
cellular response to potassium ion starvation	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of potassium ions.
gluconeogenesis	The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol.
glucose homeostasis	Any process involved in the maintenance of an internal steady state of glucose within an organism or cell.
glucose metabolic process	The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides.
glycerol biosynthetic process from pyruvate	The chemical reactions and pathways resulting in the formation of glycerol, 1,2,3-propanetriol, from other compounds, including pyruvate.
hepatocyte differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a hepatocyte. A hepatocyte is specialized epithelial cell that is organized into interconnected plates called lobules, and is the main structural component of the liver.
oxaloacetate metabolic process	The chemical reactions and pathways involving oxaloacetate, the anion of oxobutanedioic acid, an important intermediate in metabolism, especially as a component of the TCA cycle.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of memory T cell differentiation	Any process that activates or increases the frequency, rate or extent of memory T cell differentiation.
positive regulation of transcription from RNA polymerase II promoter in response to acidic pH	Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a pH stimulus with pH < 7.
propionate catabolic process	The chemical reactions and pathways resulting in the breakdown of propionate, the anion derived from propionic acid.
regulation of lipid biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids.
response to bacterium	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium.
response to insulin	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
response to lipid	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus.
response to starvation	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a starvation stimulus, deprivation of nourishment.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P05153	PCK1	Phosphoenolpyruvate carboxykinase, cytosolic [GTP]	Gallus gallus (Chicken)	PR
Q9Z2V4	Pck1	Phosphoenolpyruvate carboxykinase, cytosolic [GTP]	Mus musculus (Mouse)	PR
P07379	Pck1	Phosphoenolpyruvate carboxykinase, cytosolic [GTP]	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MPPQLQNGLN	LSAKVVQGSL	DSLPQAVREF	LENNAELCQP	DHIHICDGSE	EENGRLLGQM
70	80	90	100	110	120
EEEGILRRLK	KYDNCWLALT	DPRDVARIES	KTVIVTQEQR	DTVPIPKTGL	SQLGRWMSEE
130	140	150	160	170	180
DFEKAFNARF	PGCMKGRTMY	VIPFSMGPLG	SPLSKIGIEL	TDSPYVVASM	RIMTRMGTPV
190	200	210	220	230	240
LEAVGDGEFV	KCLHSVGCPL	PLQKPLVNNW	PCNPELTLIA	HLPDRREIIS	FGSGYGGNSL
250	260	270	280	290	300
LGKKCFALRM	ASRLAKEEGW	LAEHMLILGI	TNPEGEKKYL	AAAFPSACGK	TNLAMMNPSL
310	320	330	340	350	360
PGWKVECVGD	DIAWMKFDAQ	GHLRAINPEN	GFFGVAPGTS	VKTNPNAIKT	IQKNTIFTNV
370	380	390	400	410	420
AETSDGGVYW	EGIDEPLASG	VTITSWKNKE	WSSEDGEPCA	HPNSRFCTPA	SQCPIIDAAW
430	440	450	460	470	480
ESPEGVPIEG	IIFGGRRPAG	VPLVYEALSW	QHGVFVGAAM	RSEATAAAEH	KGKIIMHDPF
490	500	510	520	530	540
AMRPFFGYNF	GKYLAHWLSM	AQHPAAKLPK	IFHVNWFRKD	KEGKFLWPGF	GENSRVLEWM
550	560	570	580	590	600
FNRIDGKAST	KLTPIGYIPK	EDALNLKGLG	HINMMELFSI	SKEFWEKEVE	DIEKYLEDQV
610	620
NADLPCEIER	EILALKQRIS	QM