AiPD: Autoinhibited Protein Database

Q01814

Gene name	ATP2B2 (PMCA2)
Protein name	Plasma membrane calcium-transporting ATPase 2
Names	PMCA2 , EC 7.2.2.10 , Plasma membrane calcium ATPase isoform 2 , Plasma membrane calcium pump isoform 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:491
EC number	7.2.2.10: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

The plasmid membrane Ca2+ pump (PMCA) extrudes Ca2+ from the cytosol to the extracellular space playing an important role in the maintenance of the resting level of intracellular Ca2+ and in the control of the Ca2+ transients. The PMCAs are of major physiological importance, with different isoforms being essential for presynaptic and postsynaptic Ca2+ regulation in neurons and for feedback signaling in the heart and sperm motility. The PMCAs belong to the subtype 2B of P-type ATPases. The C-terminal segment of the PMCA functions as an autoinhibitory domain by interacting with the catalytic core. Ca2+-calmodulin binds to the C-terminal segment and stops inhibition by switching the PMCA to an activated state of higher maximum activity and affinity for Ca2+. In the PMCA3, the G1107D replacement impairs the autoinhibition mechanism by introducing a negative charge perturbing the contacts between the calmodulin binding domain and the pump core.

Autoinhibitory domains (AIDs)

1119-1150 (C-terminal segment/Calmodulin binding domain) SS

Target domain	380-1086 (P-type ATPase domain)
Relief mechanism	Partner binding, Ligand binding
Assay

AID

1119-1150 (C-terminal segment/Calmodulin binding domain)

Target domain

380-1086 (P-type ATPase domain)

Relief mechanism

Partner binding (Calmodulin binding to C-terminal segment), Ligand binding (Acidic phospholipid binding to AL region)

Assay

Accessory elements

No accessory elements

References

Calì T et al. (2017) "The ataxia related G1107D mutation of the plasma membrane Ca(2+) ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process", Biochimica et biophysica acta. Molecular basis of disease, 1863, 165-173

Autoinhibited structure

Activated structure

1 structures for Q01814

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q01814-F1	Predicted				AlphaFoldDB

837 variants for Q01814

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs2124844270 RCV002051600	319	A>missing	Hearing loss, autosomal dominant 82 [ClinVar]	Yes	ClinVar dbSNP
RCV001250408 rs2061464108	345	Q>*	Autosomal dominant nonsyndromic hearing loss [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV003335365 CA16617794 rs1064795322 RCV000484854	457	E>K	ATP2B2-related disorder [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1487836380 RCV002539744 RCV001723265	503	T>M	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV000019379 CA127431 VAR_084465 rs61736451 RCV000954243 RCV001258253	631	V>M	Agenesis of the corpus callosum with peripheral neuropathy Agenesis of the corpus callosum with peripheral neuropathy (accpn) Deafness, autosomal recessive 12, modifier of may exacerbate the severity of non-syndromic sensorineural hearing loss in patients with clinically relevant CDH23 variants; resulted in 50% decrease of the calcium ATPase activity [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD UniProt
rs267599520 RCV002051607	655	E>*	Hearing loss, autosomal dominant 82 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
VAR_086987	655	E>del	DFNA82 [UniProt]	Yes	UniProt
rs752990722 RCV002051608	666	C>*	Hearing loss, autosomal dominant 82 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
VAR_086988	666	C>del	DFNA82 [UniProt]	Yes	UniProt
RCV002051601 rs2060537889	777	R>*	Hearing loss, autosomal dominant 82 [ClinVar]	Yes	ClinVar TOPMed dbSNP
VAR_086989	777	R>del	DFNA82 [UniProt]	Yes	UniProt
RCV000431659 CA16604786 rs1057520233 RCV002265755	922	S>L	ATP2B2-related Progressive hearing impairment [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs199652706	2	G>A		No	ExAC TOPMed gnomAD
rs199652706	2	G>D		No	ExAC TOPMed gnomAD
rs370454484	2	G>S		No	ESP ExAC TOPMed gnomAD
rs1251132863	4	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
RCV001375144 rs1473080344	4	M>V		No	ClinVar dbSNP gnomAD
rs367841742	5	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed gnomAD
rs773766088	6	N>K		No	ExAC TOPMed gnomAD
rs770275289	7	S>N		No	ExAC gnomAD
rs1257724369	7	S>R		No	gnomAD
rs564187066	8	D>N		No	1000Genomes ExAC gnomAD
rs777173772	10	Y>C		No	ExAC gnomAD
rs955039798	11	S>P		No	Ensembl
rs1311937271	12	K>E		No	Ensembl
rs768994822	13	N>I		No	ExAC gnomAD
rs768994822	13	N>T		No	ExAC gnomAD
rs2125180555	15	R>G		No	Ensembl
rs202179800	15	R>T		No	1000Genomes
RCV001925500 rs779940389	18	S>L		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs779940389	18	S>W		No	ExAC TOPMed gnomAD
rs746087232	19	S>N		No	ExAC TOPMed gnomAD
rs2063958294	19	S>R		No	Ensembl
rs778723997	20	H>D		No	ExAC gnomAD
rs375463057	20	H>L		No	ESP ExAC TOPMed gnomAD
rs375463057	20	H>R		No	ESP ExAC TOPMed gnomAD
rs777800527	22	G>V		No	ExAC gnomAD
rs1191658662	23	E>A		No	TOPMed gnomAD
rs759325739	23	E>D		No	ExAC gnomAD
rs752261081	23	E>K		No	ExAC TOPMed gnomAD
rs765743831	25	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs762290443	27	T>A		No	ExAC TOPMed gnomAD
rs776820559	27	T>I		No	ExAC gnomAD
rs776820559	27	T>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs376205166	28	M>L		No	ESP ExAC TOPMed gnomAD
rs2063956078	28	M>T		No	TOPMed gnomAD
rs376205166	28	M>V		No	ESP ExAC TOPMed gnomAD
rs1575260398	30	E>A		No	Ensembl
rs2063955969	30	E>Q		No	gnomAD
COSM3584840 COSM3584841 rs761073766	32	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1012015300	32	R>H		No	gnomAD
rs1012015300	32	R>L		No	gnomAD
rs1236193426	34	L>F		No	gnomAD
COSM3845719 rs775707408	38	R>Q	breast [Cosmic]	No	cosmic curated ExAC gnomAD
rs1423976084 COSM1593165 COSM1035932	38	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs772109445	39	G>A		No	ExAC gnomAD
rs772109445	39	G>D		No	ExAC gnomAD
rs1381294391	39	G>S		No	gnomAD
rs746140832	40	T>S		No	ExAC TOPMed gnomAD
rs2063954104	41	E>K		No	Ensembl
rs2125179844	43	V>L		No	Ensembl
rs771105825	44	V>A		No	ExAC gnomAD
rs771105825	44	V>G		No	ExAC gnomAD
rs779131837	44	V>L		No	ExAC TOPMed gnomAD
rs1167932512	45	K>E		No	TOPMed gnomAD
rs1369127683	46	I>M		No	gnomAD
rs201490012	48	E>G		No	gnomAD
rs2063952940	48	E>K		No	TOPMed
rs777369218	49	T>I		No	ExAC TOPMed gnomAD
rs556799597	50	Y>*		No	1000Genomes ExAC gnomAD
rs756130380 RCV002010997	50	Y>F		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs939364959	50	Y>H		No	Ensembl
rs902475656	51	G>E		No	Ensembl
rs1247238992	51	G>W		No	gnomAD
rs2063951607	52	D>N		No	Ensembl
rs893603911	53	T>I		No	TOPMed
rs1367491508	53	T>P		No	TOPMed
rs2063951110	54	E>K		No	Ensembl
rs751064368	56	I>T		No	ExAC gnomAD
rs766159464	57	C>G		No	ExAC gnomAD
rs1357836291	57	C>S		No	gnomAD
rs1357836291	57	C>Y		No	gnomAD
rs1280488968	58	R>Q		No	TOPMed gnomAD
rs762455685	58	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1364888558	59	R>C		No	TOPMed gnomAD
rs149328739 COSM1536068	59	R>H	lung central_nervous_system [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs149328739	59	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs772521297	61	K>I		No	ExAC TOPMed gnomAD
rs1370993889	61	K>Q		No	gnomAD
rs772521297	61	K>R		No	ExAC TOPMed gnomAD
rs1271003547	63	S>T		No	TOPMed gnomAD
rs759648002	64	P>R		No	ExAC gnomAD
rs2063948925	65	V>G		No	TOPMed
rs1456485863	66	E>G		No	TOPMed gnomAD
rs201471815	68	L>F		No	1000Genomes ExAC gnomAD
rs768020427	69	P>L		No	ExAC TOPMed gnomAD
rs768020427	69	P>R		No	ExAC TOPMed gnomAD
rs1377790802	69	P>S		No	gnomAD
rs1253332335	70	G>D		No	TOPMed gnomAD
rs1253332335	70	G>V		No	TOPMed gnomAD
COSM6033401 COSM6033400 rs370301558	72	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1276267982	73	P>S		No	Ensembl
rs1202494397	74	D>A		No	gnomAD
rs1346124536	74	D>E		No	gnomAD
rs763274394	74	D>Y		No	ExAC gnomAD
rs2062584823	75	L>P		No	Ensembl
rs773281872	76	E>G		No	ExAC TOPMed gnomAD
rs1438701018	78	R>S		No	gnomAD
rs953578883	79	K>R		No	TOPMed gnomAD
rs747925050	82	F>L		No	ExAC gnomAD
rs776500526	84	Q>R		No	ExAC TOPMed gnomAD
rs746939018	86	F>I		No	ExAC TOPMed gnomAD
rs746939018	86	F>L		No	ExAC TOPMed gnomAD
rs746939018	86	F>V		No	ExAC TOPMed gnomAD
rs779753195	87	I>V		No	ExAC TOPMed gnomAD
rs757826245	88	P>L		No	ExAC gnomAD
rs2125018047	89	P>Q		No	1000Genomes
rs745337447	94	T>P		No	ExAC TOPMed gnomAD
rs745337447	94	T>S		No	ExAC TOPMed gnomAD
rs1413724494	96	L>P		No	gnomAD
rs753077209	99	V>A		No	ExAC TOPMed gnomAD
rs138368540	99	V>M		No	ESP ExAC TOPMed gnomAD
rs1559301935	101	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
COSM3673795 rs2062582481 COSM3673796	102	A>V	Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs766526597	106	V>M		No	ExAC gnomAD
rs762962570	107	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs41293357	112	E>*		No	Ensembl
rs776635799	113	I>L		No	ExAC gnomAD
rs1401643778	113	I>T		No	TOPMed
rs776635799	113	I>V		No	ExAC gnomAD
rs2062580990	114	A>T		No	gnomAD
rs760746487	115	A>S		No	ExAC TOPMed gnomAD
COSM1417526 rs760746487 COSM1417527	115	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1396454512	116	I>V		No	Ensembl
rs775591897	117	I>V		No	ExAC gnomAD
rs1011997168	122	S>T		No	TOPMed
rs779821154	123	F>L		No	ExAC TOPMed gnomAD
rs745377655	123	F>L		No	ExAC gnomAD
rs2062578318	124	Y>*		No	TOPMed
rs2062579317	124	Y>H		No	Ensembl
rs2125017372 RCV001961645	125	H>Q		No	ClinVar Ensembl dbSNP
rs1182921959	126	P>L		No	TOPMed gnomAD
rs1405158756	126	P>S		No	TOPMed gnomAD
rs781572230	128	G>S		No	ExAC TOPMed gnomAD
rs375034217	129	E>D		No	ESP ExAC TOPMed gnomAD
rs755311598	129	E>K		No	ExAC TOPMed gnomAD
rs780455268	130	G>D		No	ExAC gnomAD
rs1190277487	130	G>S		No	TOPMed gnomAD
COSM3584830 COSM3584831 rs758872197	132	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs750481711	133	G>R		No	ExAC gnomAD
rs753931034	135	A>T		No	ExAC TOPMed gnomAD
COSM1593166 rs945844574 COSM1035931	135	A>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs756350386	136	T>K		No	ExAC TOPMed gnomAD
COSM2916366 COSM2916367 rs756350386	136	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs767344205	137	A>V		No	ExAC gnomAD
rs759427038	139	G>S		No	ExAC gnomAD
rs774319358	140	G>R		No	ExAC TOPMed gnomAD
rs774319358	140	G>W		No	ExAC TOPMed gnomAD
rs151303929	141	A>T		No	ESP ExAC TOPMed gnomAD
rs2062249436	143	D>G		No	TOPMed
rs1251848571	145	G>R		No	TOPMed gnomAD
rs1203494572	147	A>V		No	gnomAD
rs2124972512	149	A>T		No	Ensembl
rs769447734	152	I>V		No	ExAC gnomAD
rs1575127686	153	E>G		No	Ensembl
COSM2916353 COSM2916354 rs1575127646	155	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs775785242	155	A>P		No	ExAC gnomAD
rs775785242	155	A>T		No	ExAC gnomAD
rs1342769421	156	A>T		No	TOPMed gnomAD
rs2124972284	156	A>V		No	Ensembl
rs1298086139	159	L>F		No	gnomAD
rs2062247663	162	I>S		No	Ensembl
rs2062247663 RCV001765388	162	I>T		No	ClinVar Ensembl dbSNP
rs757774695	163	C>Y		No	ExAC gnomAD
COSM3786801 COSM3786802 rs749396633	168	T>M	Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1472971663	171	N>S		No	gnomAD
rs777990801	172	D>E		No	ExAC TOPMed gnomAD
rs1478665529	176	E>D		No	TOPMed
rs975345684	179	F>L		No	TOPMed
COSM1417522 rs1479653862 COSM1417523	180	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
RCV002226138 COSM3720213 rs2124971839	180	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ClinVar Ensembl dbSNP
rs1322308785	184	S>N		No	gnomAD
COSM6051854 COSM6051855 rs754821593	185	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1417521 COSM1417520 rs766306375	187	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs772766333	193	T>I		No	ExAC gnomAD
rs776369165	194	V>L		No	ExAC TOPMed gnomAD
COSM4616875 rs776369165 COSM4616876	194	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs367698989	196	R>Q		No	ESP ExAC gnomAD
rs2062244427	196	R>W		No	TOPMed gnomAD
rs1575127227	197	A>S		No	Ensembl
rs1458001350	199	Q>E		No	gnomAD
rs774802099	201	V>D		No	ExAC gnomAD
rs984601396	201	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs749812718	202	Q>H		No	ExAC gnomAD
RCV002269473 rs2124971330	204	P>A		No	ClinVar Ensembl dbSNP
rs2062243234	204	P>L		No	TOPMed
rs2062242893	206	A>D		No	Ensembl
rs189987955	206	A>P		No	1000Genomes TOPMed gnomAD
rs189987955	206	A>S		No	1000Genomes TOPMed gnomAD
rs1183922750	207	E>A		No	gnomAD
rs1460690008	208	I>F		No	gnomAD
rs1486024532	209	V>A		No	gnomAD
rs145312453	209	V>M		No	ESP ExAC TOPMed gnomAD
rs1323990065	210	V>A		No	gnomAD
rs781505875	210	V>I		No	ExAC gnomAD
rs1245948160	211	G>R		No	gnomAD
rs751381940	213	I>M		No	ExAC TOPMed gnomAD
rs374835840	214	A>S		No	ESP ExAC gnomAD
rs374835840	214	A>T		No	ESP ExAC gnomAD
rs2124970907	218	Y>N		No	Ensembl
rs1575124532	220	D>A		No	Ensembl
rs77470961	221	L>P		No	Ensembl
rs141093862	223	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA gnomAD
rs758211761 TCGA novel	225	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA ExAC gnomAD
COSM5491627 rs2062203038 COSM5491626	225	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs1434611666	226	G>S		No	gnomAD
rs1475754485 RCV001945839	234	L>V		No	ClinVar TOPMed dbSNP gnomAD
rs758879461	235	K>R		No	Ensembl
rs535964962	236	I>N		No	1000Genomes ExAC TOPMed gnomAD
rs535964962	236	I>T		No	1000Genomes ExAC TOPMed gnomAD
rs778828310	236	I>V		No	ExAC gnomAD
rs753448558	237	D>E		No	ExAC TOPMed gnomAD
rs1356717742	240	S>P		No	TOPMed gnomAD
rs1352544972	248	V>A		No	TOPMed
COSM1417518 COSM1417519 rs1057261655	249	R>C	ovary Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1057261655	249	R>G		No	gnomAD
rs200591536	249	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs375973812 COSM4111992 COSM258761	252	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD
rs1185431696	253	D>N		No	TOPMed
rs2062199903	254	K>N		No	TOPMed
rs1241347106	256	P>A		No	TOPMed gnomAD
rs372187689	263	H>Q		No	ESP ExAC TOPMed gnomAD
RCV001905877 rs2124875506	264	V>L		No	ClinVar Ensembl dbSNP
COSM1471478 rs775610841	270	R>W	prostate [Cosmic]	No	cosmic curated ExAC gnomAD
rs1321099025	271	M>I		No	Ensembl
rs767551489	271	M>L		No	ExAC gnomAD
rs534464297	274	T>A		No	1000Genomes ExAC gnomAD
rs1405062514	275	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2061745238	278	V>A		No	Ensembl
rs771149479	278	V>M		No	ExAC TOPMed gnomAD
rs2061744926	284	I>T		No	Ensembl
rs1010759595	284	I>V		No	TOPMed gnomAD
rs769912544	285	I>V		No	ExAC gnomAD
rs768259928	290	G>R		No	ExAC gnomAD
rs779577877	291	A>S		No	ExAC gnomAD
rs1481610801	291	A>V		No	gnomAD
rs1435165880	292	G>S		No	TOPMed gnomAD
rs367699943 VAR_084464 RCV002114326	293	G>S	may exacerbate the severity of non-syndromic sensorineural hearing loss in patients with clinically relevant CDH23 variants; delayed calcium export [UniProt]	No	ClinVar ESP ExAC TOPMed dbSNP gnomAD UniProt
rs754211616	294	E>K		No	ExAC gnomAD
RCV000443086 CA16604434 rs373192330	295	E>D		No	TOPMed gnomAD ClinGen ClinVar dbSNP
rs778104787	295	E>Q		No	ExAC TOPMed gnomAD
rs1170059047	300	D>E		No	gnomAD
COSM3914442 COSM3914441 rs1355294301	300	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs753177348	301	K>R		No	ExAC gnomAD
rs956959764	303	G>D		No	TOPMed gnomAD
rs956959764	303	G>V		No	TOPMed gnomAD
rs2061684431	304	V>L		No	TOPMed
rs925504101	306	K>R		No	Ensembl
rs2061684217	307	G>R		No	Ensembl
rs768532843	308	D>G		No	ExAC gnomAD
rs2061684142	308	D>N		No	Ensembl
rs2061684008	310	L>F		No	TOPMed
rs1280329991	310	L>R		No	TOPMed gnomAD
rs760656114	312	L>P		No	ExAC gnomAD
rs1297964063	313	P>R		No	gnomAD
rs1383029083	314	A>T		No	TOPMed gnomAD
rs770633275	315	A>S		No	ExAC TOPMed gnomAD
rs748937189	316	D>E		No	ExAC TOPMed gnomAD
rs1197959106	316	D>G		No	TOPMed gnomAD
rs147881294	317	G>C		No	ESP ExAC TOPMed gnomAD
rs147881294	317	G>R		No	ESP ExAC TOPMed gnomAD
rs147881294	317	G>S		No	ESP ExAC TOPMed gnomAD
rs769045116	317	G>V		No	ExAC gnomAD
rs747289941 COSM5732754	318	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1225625317	320	A>G		No	gnomAD
rs758766390	320	A>T		No	ExAC gnomAD
rs989534248	322	N>I		No	TOPMed gnomAD
rs1668281837	323	A>D		No	TOPMed
rs1282797967	325	D>E		No	gnomAD
rs1324369555	325	D>G		No	gnomAD
rs2061642296	326	S>C		No	TOPMed
rs149708084 COSM1163318	327	A>V	liver Variant assessed as Somatic; MODERATE impact. pancreas endometrium [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs974822079	328	N>S		No	Ensembl
rs757592586	329	A>P		No	ExAC TOPMed gnomAD
rs554208140	330	S>R		No	Ensembl
rs754089404	331	L>P		No	ExAC TOPMed gnomAD
rs1391779442	331	L>V		No	gnomAD
rs2061641423	334	G>C		No	gnomAD
rs1182334568	336	M>V		No	TOPMed
rs2061465089	337	Q>P		No	TOPMed
rs890878049	339	G>D		No	Ensembl
rs751479685	340	N>S		No	ExAC TOPMed gnomAD
rs2061464563	341	V>M		No	TOPMed
rs762483506	342	D>N		No	ExAC gnomAD
rs181008668	343	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1451248706	344	S>I		No	TOPMed gnomAD
rs1575066214	344	S>R		No	Ensembl
rs1402690266	348	A>T		No	TOPMed gnomAD
rs536636171	349	K>R		No	1000Genomes ExAC TOPMed gnomAD
rs751122	350	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1264227687	352	D>Y		No	gnomAD
rs2061436557	353	G>E		No	TOPMed
rs1439146629	353	G>R		No	TOPMed gnomAD
rs1258281902	354	A>G		No	gnomAD
rs1258281902	354	A>V		No	gnomAD
rs2061436420	355	A>P		No	Ensembl
rs1240770392	356	A>T		No	TOPMed gnomAD
rs2061436201	357	M>V		No	TOPMed
rs758399805	364	S>N		No	ExAC gnomAD
rs745769945	364	S>R		No	ExAC gnomAD
rs1224594944	365	A>G		No	gnomAD
rs753319875	368	G>D		No	ExAC gnomAD
rs1444840288	368	G>S		No	TOPMed gnomAD
rs752033239	369	D>E		No	ExAC TOPMed gnomAD
rs1464317425	369	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs766822562	370	A>P		No	ExAC TOPMed gnomAD
rs766822562	370	A>T		No	ExAC TOPMed gnomAD
rs1559253285	370	A>V		No	gnomAD
rs1424406166	372	D>N		No	gnomAD
rs1189455392	375	K>N		No	gnomAD
rs1471023838	376	A>D		No	gnomAD
rs145244597	376	A>S		No	TOPMed
rs145244597	376	A>T		No	TOPMed
rs1471023838	376	A>V		No	gnomAD
rs765738283	377	S>N		No	ExAC gnomAD
rs761803682	380	K>R		No	ExAC gnomAD
rs776634300	383	K>M		No	ExAC gnomAD
rs150203000	385	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs150203000	385	V>M		No	ESP ExAC TOPMed gnomAD
rs991634566	390	L>R		No	Ensembl
rs1326253064	398	G>W		No	TOPMed
rs1374495991	400	A>E		No	gnomAD
rs1410901563	407	I>L		No	gnomAD
rs2061359799	408	T>M		No	TOPMed
rs2061359613	409	V>A		No	TOPMed
rs1488876496	410	I>V		No	gnomAD
rs146495987	415	Y>S		No	ESP
rs891845763	417	T>S		No	TOPMed gnomAD
rs2061359206	417	T>S		No	Ensembl
rs2061359080	418	V>M		No	TOPMed gnomAD
rs1244257141	420	T>N		No	TOPMed gnomAD
rs757802757	420	T>P		No	ExAC TOPMed gnomAD
rs757802757	420	T>S		No	ExAC TOPMed gnomAD
rs1297759850	422	V>G		No	TOPMed gnomAD
rs368504026	422	V>M		No	ExAC gnomAD
rs1030374767	424	N>K		No	TOPMed
rs2061358635	425	K>Q		No	Ensembl
rs149899981	427	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs149899981	427	P>Q		No	1000Genomes ExAC TOPMed gnomAD
rs764543689	427	P>S		No	ExAC TOPMed gnomAD
rs1575055192	432	C>G		No	Ensembl
rs774052464	432	C>Y		No	ExAC gnomAD
rs916921377	433	T>A		No	TOPMed gnomAD
COSM1035923 rs770734675 COSM1154059	433	T>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs374649471	435	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs747675057	437	V>M		No	ExAC TOPMed gnomAD
rs768261203	439	Y>F		No	ExAC gnomAD
rs1209648649	440	F>L		No	gnomAD
rs2061357326	444	F>S		No	gnomAD
rs1553564078 CA658657275 RCV000522327	444	F>missing		No	ClinGen ClinVar dbSNP
rs757647596	446	I>T		No	ExAC gnomAD
rs758218985	446	I>V		No	ExAC TOPMed gnomAD
rs1276448598 COSM1669967 COSM1669966	448	V>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
RCV001772583 rs2125521057	450	V>L		No	ClinVar Ensembl dbSNP
rs2061356468	455	V>M		No	Ensembl
rs766670443	463	V>A		No	ExAC gnomAD
rs751832350 COSM3780614	463	V>I	pancreas [Cosmic]	No	cosmic curated ExAC gnomAD
rs1575054828	464	T>P		No	Ensembl
rs2061355722	465	I>V		No	TOPMed
rs1198836153	466	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM3584813 rs1256194224 COSM3584812	470	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs771774308	476	K>N		No	ExAC gnomAD
rs143304473	476	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1299396343	477	D>N		No	gnomAD
rs1459287444	478	N>H		No	TOPMed
rs1378929747 COSM3408086	482	R>C	central_nervous_system [Cosmic]	No	cosmic curated gnomAD
COSM3391941 rs1272655222	482	R>H	pancreas [Cosmic]	No	cosmic curated gnomAD
rs1367903479	486	A>T		No	gnomAD
rs2061257569	490	M>V		No	Ensembl
rs2061257431	492	N>D		No	TOPMed gnomAD
rs1359976671	494	T>I		No	TOPMed gnomAD
rs748424364	496	I>V		No	ExAC gnomAD
COSM6162837 rs1265214151 COSM6162838 COSM1536078	497	C>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
rs768990611	499	D>E		No	ExAC gnomAD
rs780277141	508	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs758734872	508	R>H		No	ExAC gnomAD
rs2061256198	509	M>V		No	TOPMed gnomAD
rs771678072	512	V>A		No	ExAC TOPMed gnomAD
rs1283038342	512	V>I		No	TOPMed gnomAD
rs368441051	515	Y>C		No	ESP ExAC gnomAD
rs368441051	515	Y>F		No	ESP ExAC gnomAD
rs764150216	517	G>S		No	ExAC TOPMed gnomAD
rs1575044678	518	D>A		No	Ensembl
RCV002213069 rs752239299	518	D>N		No	ClinVar ExAC TOPMed dbSNP gnomAD
COSM3780612 RCV002149240 rs144118750	519	V>I	pancreas [Cosmic]	No	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758994103	520	H>L		No	ExAC TOPMed gnomAD
rs2061255030	520	H>N		No	Ensembl
rs758994103	520	H>R		No	ExAC TOPMed gnomAD
rs1000988843	521	Y>C		No	TOPMed gnomAD
rs1000988843	521	Y>S		No	TOPMed gnomAD
rs1477462213	522	K>Q		No	gnomAD
COSM3584809 rs2061254577 COSM3584808	523	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs2125505389	524	I>F		No	Ensembl
rs904108983	524	I>M		No	TOPMed gnomAD
rs2061254423	525	P>T		No	TOPMed
rs1559242841	526	D>E		No	Ensembl
rs202118324	526	D>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs202118324	526	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs769272435	528	S>N		No	ExAC TOPMed gnomAD
rs769272435	528	S>T		No	ExAC TOPMed gnomAD
rs2061253908	529	S>A		No	gnomAD
rs780332176	530	I>V		No	ExAC gnomAD
rs1218495158	531	N>D		No	gnomAD
rs972126032	532	T>S		No	TOPMed gnomAD
rs2061253512	534	T>S		No	Ensembl
rs2061253267	535	M>T		No	TOPMed
rs745874947 RCV002033455	535	M>V		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1559242748	537	L>M		No	Ensembl
rs1559242748	537	L>V		No	Ensembl
rs56120857	539	I>F		No	ESP ExAC TOPMed gnomAD
rs56120857	539	I>V		No	ESP ExAC TOPMed gnomAD
rs199678871	540	N>D		No	ESP ExAC TOPMed gnomAD
COSM3660061 rs1467431326	540	N>S	liver [Cosmic]	No	cosmic curated gnomAD
rs1401047704	542	I>V		No	gnomAD
rs777396418	543	A>S		No	ExAC TOPMed gnomAD
rs777396418 RCV000422716 COSM4664342 COSM4664341 CA2253626	543	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs756122323	544	I>T		No	ExAC TOPMed gnomAD
rs2061252222	546	S>T		No	gnomAD
rs1256110308	547	A>T		No	TOPMed gnomAD
rs921352439	548	Y>C		No	TOPMed gnomAD
rs2061251666	549	T>A		No	TOPMed
rs2061251588	549	T>I		No	Ensembl
rs973900247	553	L>P		No	TOPMed gnomAD
rs765779585	554	P>S		No	ExAC gnomAD
rs765779585	554	P>T		No	ExAC gnomAD
rs2060854574	558	E>K		No	TOPMed
rs750067208	559	G>S		No	ExAC gnomAD
rs761133287	560	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2060854133	562	P>H		No	TOPMed
rs768204746	563	R>G		No	ExAC TOPMed gnomAD
rs768204746	563	R>W		No	ExAC TOPMed gnomAD
rs760088594	564	Q>E		No	ExAC gnomAD
rs774535349	565	V>G		No	ExAC gnomAD
rs749344787	567	N>S		No	ExAC TOPMed gnomAD
rs1314290874 COSM4749854 COSM4749855	569	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs554270950	570	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs199935477 RCV001932806	571	C>*		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs780965218	572	G>S		No	ExAC TOPMed gnomAD
rs1219521271	576	F>I		No	gnomAD
rs200139854	577	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs2060852323	583	D>G		No	TOPMed
rs1230695512	583	D>Y		No	TOPMed
rs1191448274	585	E>D		No	Ensembl
rs764853768	585	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs778129111	586	P>H		No	gnomAD
rs778129111	586	P>L		No	gnomAD
rs2125451022	586	P>S		No	Ensembl
rs759927011	587	V>L		No	ExAC TOPMed gnomAD
rs759927011 RCV002005626	587	V>M		No	ClinVar ExAC TOPMed dbSNP gnomAD
COSM4054935 rs1360871132 COSM4054936	588	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs774748492	588	R>H		No	ExAC gnomAD
rs766839476	589	S>C		No	ExAC gnomAD
rs1559557507	590	Q>L		No	Ensembl
rs1165102345	592	P>A		No	gnomAD
rs2060850956	594	E>K		No	TOPMed
rs2060850792	597	Y>F		No	TOPMed
rs2060850716	599	V>M		No	TOPMed
COSM1417512 COSM1417511 rs199991046	605	V>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1593176 rs776463160 COSM1035918	606	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768463609 COSM3584804 COSM3584805	606	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
RCV001997084 rs2125450656	609	M>T		No	ClinVar Ensembl dbSNP
rs1440719706	610	S>N		No	TOPMed gnomAD
rs1440719706	610	S>T		No	TOPMed gnomAD
rs1220319437	611	T>S		No	gnomAD
rs2125450573	613	I>M		No	Ensembl
rs148749880	617	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV000885465 rs150683478	617	D>N		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1293738196	618	E>D		No	TOPMed gnomAD
rs778533707	618	E>K		No	ExAC TOPMed gnomAD
rs1274732075	619	S>N		No	TOPMed gnomAD
rs757018981 COSM580772 COSM1143082	621	R>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1391563891	621	R>H		No	TOPMed gnomAD
rs1391563891	621	R>L		No	TOPMed gnomAD
rs939205374	624	S>N		No	Ensembl
rs753563395	630	I>V		No	ExAC
rs61736451	631	V>L	Agenesis of the corpus callosum with peripheral neuropathy (accpn) [Ensembl]	No	1000Genomes ESP ExAC TOPMed gnomAD
rs2060848090	632	L>F		No	Ensembl
rs182847338	634	K>R		No	1000Genomes ExAC TOPMed gnomAD
rs765698071	637	K>Q		No	ExAC gnomAD
rs1398265960	639	L>F		No	gnomAD
rs140327013	640	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1433214170	641	G>R		No	gnomAD
COSM6162845 COSM6162846 rs753859888 COSM1536086	642	A>E	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs753859888	642	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2060816186	643	G>A		No	Ensembl
rs2060816259	643	G>R		No	TOPMed
rs764364185	644	E>K		No	ExAC TOPMed gnomAD
rs74592691	646	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs199797486	646	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs373876706	648	F>I		No	ESP ExAC TOPMed gnomAD
rs759212037	649	R>G		No	ExAC TOPMed gnomAD
rs774434270	649	R>P		No	ExAC TOPMed gnomAD
COSM1484389 rs774434270 COSM1484390	649	R>Q	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs759212037	649	R>W		No	ExAC TOPMed gnomAD
rs1287918907	650	P>L		No	TOPMed gnomAD
rs1484557674	650	P>S		No	gnomAD
rs748864193	651	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs145574094	651	R>H		No	ESP ExAC TOPMed gnomAD
rs748864193	651	R>S		No	ExAC TOPMed gnomAD
rs369920268	652	D>N		No	ESP ExAC TOPMed gnomAD
COSM1593177 rs758833343	653	R>Q	endometrium [Cosmic]	No	cosmic curated ExAC gnomAD
COSM727477 COSM1149534 rs544333948	653	R>W	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs746169153	654	D>Y		No	ExAC gnomAD
rs267599520	655	E>K		No	ExAC TOPMed gnomAD
rs2060814546	656	M>I		No	gnomAD
rs1476355125	658	K>E		No	TOPMed gnomAD
rs753956510	660	V>M		No	ExAC TOPMed gnomAD
rs200255705	661	I>M		No	1000Genomes ExAC gnomAD
rs2060814219	661	I>T		No	Ensembl
rs1014421005	662	E>K		No	Ensembl
rs756094148	663	P>A		No	ExAC TOPMed gnomAD
rs376966138	667	D>N		No	ESP ExAC TOPMed gnomAD
rs1281662606	672	I>V		No	TOPMed gnomAD
rs772900118	674	V>M		No	ExAC TOPMed gnomAD
rs1461301540	677	R>H		No	TOPMed gnomAD
rs1043392470	678	D>N		No	TOPMed gnomAD
rs1342958763	680	P>S		No	TOPMed gnomAD
rs1342958763	680	P>T		No	TOPMed gnomAD
rs1430417763	681	S>G		No	gnomAD
rs572312326	683	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs2060812271	683	P>S		No	Ensembl
RCV000997988 rs1575005369	684	E>missing		No	ClinVar dbSNP
COSM3695736 rs746292256 COSM3695735	685	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs746292256	685	P>Q		No	ExAC TOPMed gnomAD
rs757806989	686	D>E		No	ExAC TOPMed gnomAD
rs1406406151	689	N>S		No	Ensembl
rs749814396	690	E>Q		No	ExAC gnomAD
rs1215845724	691	N>Y		No	gnomAD
rs909716038	694	L>F		No	TOPMed gnomAD
rs553746671	695	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs752661102 COSM3584799 COSM3584798	696	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs767837099	699	C>Y		No	ExAC gnomAD
COSM2916272 COSM2916271 rs1211251049	702	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
RCV001287954 rs2060810402	703	V>L		No	ClinVar Ensembl dbSNP
rs2060810244	704	G>D		No	Ensembl
rs2060810244 RCV002248252	704	G>V		No	ClinVar Ensembl dbSNP
RCV001765851 rs2125445636	705	I>F		No	ClinVar Ensembl dbSNP
rs1486066765	706	E>K		No	TOPMed
rs751442343 COSM366419	708	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs760871469	711	P>S		No	ExAC TOPMed gnomAD
rs567994556	712	E>Q		No	1000Genomes ExAC gnomAD
rs1468202061	715	E>G		No	TOPMed gnomAD
rs938764659	718	R>C		No	TOPMed gnomAD
rs928659205	718	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs200250553	722	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs773443414	722	R>W		No	ExAC gnomAD
rs1188002884	724	G>D		No	gnomAD
rs1317767271	724	G>S		No	gnomAD
rs1574980625 RCV000991464	725	I>N		No	ClinVar Ensembl dbSNP
rs748582045	726	T>K		No	ExAC TOPMed gnomAD
rs748582045	726	T>M		No	ExAC TOPMed gnomAD
rs754680596	728	R>C		No	TOPMed gnomAD
rs780440699	728	R>H		No	ExAC gnomAD
rs780440699	728	R>L		No	ExAC gnomAD
rs1415335547	729	M>V		No	gnomAD
rs750301862 COSM3766831	733	D>N	liver [Cosmic]	No	cosmic curated ExAC gnomAD
rs2060549734	735	I>S		No	TOPMed
rs1421091853	737	T>K		No	gnomAD
rs1421091853	737	T>M		No	gnomAD
rs778544762	739	R>P		No	ExAC TOPMed gnomAD
rs778544762	739	R>Q		No	ExAC TOPMed gnomAD
rs1345399209	739	R>W		No	gnomAD
rs1398451336	740	A>D		No	gnomAD
rs757024697	741	I>V		No	ExAC TOPMed gnomAD
rs1354662233	742	A>S		No	TOPMed gnomAD
COSM1184062 rs1354662233	742	A>T	large_intestine [Cosmic]	No	cosmic curated TOPMed gnomAD
rs2060548868	747	I>T		No	Ensembl
rs755630251	749	H>L		No	ExAC TOPMed gnomAD
rs755630251	749	H>R		No	ExAC TOPMed gnomAD
rs1559545069	749	H>Y		No	Ensembl
rs1441382565	754	F>I		No	TOPMed gnomAD
rs1323514737	756	C>F		No	TOPMed gnomAD
rs759078548	758	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs773673140	760	K>R		No	ExAC gnomAD
rs1291420073	765	R>K		No	gnomAD
rs762199117	767	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs749393972	767	R>H		No	ExAC TOPMed gnomAD
rs749393972	767	R>L		No	ExAC TOPMed gnomAD
rs762199117	767	R>S		No	ExAC TOPMed gnomAD
rs747147456	769	E>A		No	ExAC gnomAD
rs747147456	769	E>G		No	ExAC gnomAD
rs964598436	769	E>K		No	TOPMed gnomAD
rs1469025797	770	K>N		No	Ensembl
rs1195731524	771	G>R		No	TOPMed gnomAD
rs764534165	773	I>T		No	ExAC TOPMed gnomAD
rs761076118	777	R>L		No	ExAC gnomAD
rs761076118 COSM3584794 COSM3584795	777	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1382206628	779	D>E		No	TOPMed gnomAD
rs768007228	784	K>Q		No	ExAC gnomAD
rs1158776536	786	R>Q		No	TOPMed gnomAD
rs1574978966	787	V>G		No	Ensembl
rs2060537313	787	V>L		No	TOPMed
rs2060536914	790	R>C		No	TOPMed gnomAD
rs1280783124	790	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1209651936	791	S>A		No	gnomAD
rs200946394 RCV001960397	794	T>M		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1334731513	795	D>E		No	TOPMed gnomAD
rs1574978828	796	K>Q		No	Ensembl
rs2125409089	802	G>C		No	Ensembl
rs781596200	805	D>N		No	ExAC gnomAD
rs969053907	807	T>K		No	Ensembl
rs1271169857	808	H>Q		No	TOPMed gnomAD
rs1341826559	808	H>Y		No	gnomAD
rs2060424412	809	T>N		No	TOPMed
rs2060424412	809	T>S		No	TOPMed
rs1179500847	810	E>K		No	gnomAD
rs758486263	812	R>Q		No	ExAC TOPMed gnomAD
COSM2152966 COSM2152967 rs866132370	812	R>W	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs201856129	814	V>G		No	ExAC gnomAD
rs765512175	815	V>G		No	ExAC gnomAD
rs1421342790 COSM3584788 COSM3584789	817	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
COSM6095865 COSM6095866 rs2060423534 COSM1143080	818	T>M	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs2125394967 RCV002273378	821	G>R		No	ClinVar Ensembl dbSNP
rs1251839245	825	G>R		No	gnomAD
rs1219954399	826	P>T		No	gnomAD
rs1440079928	827	A>V		No	gnomAD
rs2125394862	833	V>L		No	Ensembl
rs773964391	834	G>S		No	ExAC gnomAD
rs748989820	836	A>T		No	ExAC gnomAD
rs2060422192	837	M>V		No	TOPMed
rs1485572860 RCV000762361	839	I>N		No	ClinVar dbSNP gnomAD
rs1485572860	839	I>T		No	gnomAD
rs1235942676	840	A>T		No	TOPMed gnomAD
rs746398574	853	L>V		No	ExAC gnomAD
rs2060405265	857	N>D		No	Ensembl
rs1354642256	860	S>C		No	gnomAD
rs111706887	861	I>M		No	TOPMed gnomAD
COSM180598 rs778120026 COSM4111977	862	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1559538483	869	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs752585168	869	R>L		No	ExAC gnomAD
rs2060404279	871	V>I		No	Ensembl
rs1475079434	885	V>I		No	gnomAD
rs2060403610	886	N>I		No	gnomAD
rs145040618 RCV001767817	886	N>K		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM5863142 rs762583223 COSM5863141 RCV001977186	887	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1206864634	891	I>T		No	gnomAD
rs2060403036	896	G>V		No	gnomAD
rs566780843 COSM1245727	897	A>T	oesophagus [Cosmic]	No	cosmic curated 1000Genomes ExAC gnomAD
rs1027007294	898	C>F		No	TOPMed gnomAD
rs369741116	899	I>V		No	ESP ExAC TOPMed gnomAD
rs1310353379 COSM1318746 COSM1318747	900	T>M	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2125380296 RCV002004121	904	P>R		No	ClinVar Ensembl dbSNP
rs2060322836	904	P>T		No	Ensembl
rs1273658754	908	V>M		No	gnomAD
rs2060322267	910	M>I		No	TOPMed
rs1574958820	913	V>G		No	Ensembl
rs1559534646	924	A>T		No	Ensembl
rs2060320930	927	T>S		No	TOPMed
rs760294184	929	P>L		No	ExAC TOPMed gnomAD
rs1328909942	929	P>T		No	gnomAD
COSM1035914 rs368058047 COSM1154056	931	T>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1384784896	932	E>D		No	gnomAD
rs954014031	933	T>N		No	Ensembl
rs2060319588	938	K>E		No	Ensembl
RCV002265179 rs1559534482	939	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar NCI-TCGA dbSNP gnomAD
rs2060319515	939	P>S		No	TOPMed
rs2125379588	941	G>D		No	Ensembl
rs1419635133	942	R>C		No	gnomAD
rs780286157	942	R>H		No	ExAC TOPMed gnomAD
rs2060318884	943	N>D		No	Ensembl
rs1179707919	945	P>L		No	TOPMed gnomAD
rs1199537776	951	M>I		No	gnomAD
rs753392215	957	G>S		No	ExAC gnomAD
rs2060318011	960	V>I		No	Ensembl
rs755578943	966	I>M		No	ExAC gnomAD
rs1333691245	968	T>I		No	gnomAD
rs752295184	970	L>F		No	ExAC gnomAD
rs2060317186	972	V>I		No	Ensembl
rs1363070884	974	E>K		No	gnomAD
rs1015069977	975	K>R		No	TOPMed
rs2060249868	976	M>I		No	TOPMed
rs769765695	980	D>H		No	ExAC TOPMed gnomAD
rs769765695	980	D>N		No	ExAC TOPMed gnomAD
rs556727847	981	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs1403379381	982	G>E		No	gnomAD
rs780731851	982	G>R		No	ExAC gnomAD
RCV002011513 rs146069247	985	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs751257556	985	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1194938859	986	P>A		No	gnomAD
rs865848016 COSM1578633	989	S>L	meninges [Cosmic]	No	cosmic curated Ensembl
rs2060248624	1001	T>I		No	TOPMed gnomAD
COSM4111973 rs765963921 COSM4111974	1003	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs2060248337	1004	M>V		No	TOPMed
rs2060248037	1010	E>K		No	TOPMed
rs2060247971	1011	I>V		No	gnomAD
rs2060247845	1012	N>S		No	TOPMed
rs762801598	1013	A>T		No	ExAC TOPMed gnomAD
rs772959601	1016	I>M		No	ExAC gnomAD
RCV001878332 rs2125369003	1016	I>V		No	ClinVar Ensembl dbSNP
rs935376816	1017	H>Y		No	TOPMed gnomAD
rs373150646 COSM4111972 COSM4111971	1018	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs2125368879 RCV001865033	1020	R>missing		No	ClinVar dbSNP
rs768217763	1020	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs760285222	1020	R>H		No	ExAC gnomAD
RCV001945730 rs760285222	1020	R>L		No	ClinVar ExAC dbSNP gnomAD
rs779913030	1024	D>E		No	ExAC TOPMed gnomAD
rs2060246578	1025	G>D		No	Ensembl
rs758122334	1025	G>S		No	ExAC TOPMed gnomAD
rs376018398	1026	I>V		No	ESP ExAC gnomAD
rs778300525	1028	R>Q		No	ExAC TOPMed gnomAD
rs753250088	1031	I>N		No	ExAC gnomAD
rs753250088	1031	I>T		No	ExAC gnomAD
rs2060246066	1033	C>R		No	Ensembl
rs1472307150	1036	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2060245415	1042	I>T		No	Ensembl
rs1229661551	1044	I>T		No	TOPMed
rs1320953291 RCV001995070	1053	P>S		No	ClinVar TOPMed dbSNP gnomAD
rs1287233328	1056	C>S		No	gnomAD
rs753542319	1057	S>A		No	ExAC gnomAD
rs764156405	1061	L>P		No	ExAC gnomAD
rs2060237724	1062	D>N		No	TOPMed
rs2060237575	1065	M>L		No	Ensembl
rs1432325485	1067	C>G		No	gnomAD
rs1432325485	1067	C>S		No	gnomAD
rs760673006	1068	I>L		No	ExAC gnomAD
rs1294701886	1068	I>T		No	TOPMed gnomAD
rs1348501104	1070	I>T		No	TOPMed gnomAD
rs1457666923	1070	I>V		No	gnomAD
rs2060236718	1075	L>P		No	gnomAD
rs2060236511	1076	V>A		No	Ensembl
rs149035567	1076	V>I		No	ESP ExAC TOPMed gnomAD
rs2125367001	1077	W>*		No	1000Genomes
rs754564501	1081	I>M		No	TOPMed gnomAD
rs149910726	1082	A>T		No	ESP ExAC TOPMed gnomAD
rs1377740348	1083	T>A		No	gnomAD
rs370705388	1083	T>S		No	ESP ExAC TOPMed gnomAD
rs2060183530	1084	I>T		No	Ensembl
rs1559527736	1088	R>T		No	Ensembl
rs2060182748	1098	L>F		No	TOPMed gnomAD
rs1267513201	1099	T>I		No	TOPMed
rs868700600	1103	E>K		No	Ensembl
rs376285041	1104	I>M		No	ESP TOPMed gnomAD
rs2060182338	1104	I>V		No	TOPMed
rs778096122	1105	P>L		No	ExAC TOPMed gnomAD
rs778096122	1105	P>Q		No	ExAC TOPMed gnomAD
rs1034835475	1106	E>K		No	gnomAD
rs752511520	1108	E>K		No	ExAC gnomAD
rs374011120	1110	N>S		No	ESP ExAC TOPMed gnomAD
rs2060181384	1111	E>D		No	TOPMed
rs772535893	1111	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2060181106	1113	V>A		No	TOPMed
rs765812045	1113	V>L		No	ExAC TOPMed gnomAD
rs765812045	1113	V>M		No	ExAC TOPMed gnomAD
rs1393017235	1114	E>A		No	TOPMed
rs1286872809	1117	D>E		No	gnomAD
rs1247509549	1118	H>L		No	gnomAD
RCV001757917 rs2125357954	1119	A>T		No	ClinVar Ensembl dbSNP
rs1312365878	1119	A>T		No	TOPMed gnomAD
rs917336797	1119	A>V		No	TOPMed gnomAD
RCV001752214 rs2125357897	1121	R>P		No	ClinVar Ensembl dbSNP
rs1267725418	1124	R>Q		No	TOPMed gnomAD
COSM3391939 rs370895383 COSM3391940	1125	R>Q	Variant assessed as Somatic; MODERATE impact. pancreas urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1457719867	1125	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2060179620	1126	G>S		No	TOPMed
rs1156558456	1131	F>L		No	TOPMed gnomAD
rs2125357775 RCV001824499	1132	R>*		No	ClinVar Ensembl dbSNP
rs2060179332	1132	R>Q		No	TOPMed
rs1559527380	1135	N>S		No	Ensembl
rs1421474714 RCV001771271	1136	R>Q		No	ClinVar dbSNP gnomAD
rs774850425	1139	T>A		No	ExAC gnomAD
rs1213345149	1142	R>C		No	gnomAD
rs779884532	1142	R>H		No	ExAC TOPMed gnomAD
rs2059913127 COSM1133672	1143	V>I	urinary_tract [Cosmic]	No	cosmic curated TOPMed
rs373130153	1144	V>M		No	ESP
rs1328157604	1146	A>V		No	TOPMed gnomAD
rs1363944044	1148	R>H		No	gnomAD
rs1323903845	1152	Y>C		No	TOPMed
rs2059912422	1154	G>D		No	Ensembl
rs2059912489	1154	G>R		No	TOPMed
rs28533981	1158	P>L		No	Ensembl
rs972609276	1159	E>D		No	Ensembl
rs1430424392	1161	R>L		No	gnomAD
rs1430424392	1161	R>Q		No	gnomAD
rs1337909479	1162	T>I		No	TOPMed gnomAD
rs778779257	1163	S>F		No	ExAC gnomAD
rs2059911651	1168	M>I		No	gnomAD
rs1426632836	1168	M>V		No	gnomAD
rs1291305538	1169	A>D		No	TOPMed gnomAD
rs753318972	1170	H>R		No	ExAC gnomAD
rs1220151933	1170	H>Y		No	gnomAD
rs369789634	1172	E>D		No	ESP ExAC TOPMed gnomAD
COSM1417502 rs1215036750	1174	R>Q	large_intestine [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1453823607	1174	R>W		No	TOPMed gnomAD
rs766773779	1175	I>M		No	ExAC TOPMed gnomAD
rs1206866742	1176	E>K		No	gnomAD
rs763370632	1177	D>N		No	ExAC TOPMed gnomAD
rs2059910816	1182	I>N		No	gnomAD
rs1167103851	1183	P>S		No	TOPMed
rs765817186	1185	I>T		No	ExAC gnomAD
rs2059910521	1186	D>E		No	gnomAD
rs776766476 COSM1692367	1189	D>N	skin [Cosmic]	No	cosmic curated ExAC gnomAD
rs776766476	1189	D>Y		No	ExAC gnomAD
rs1344044122	1193	D>H		No	TOPMed gnomAD
rs1290397168	1193	D>V		No	gnomAD
rs2059910166	1194	A>T		No	gnomAD
rs768817061	1194	A>V		No	ExAC TOPMed gnomAD
rs141356421 RCV002099811	1195	A>T		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs577047176	1195	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1574915127	1199	N>T		No	Ensembl
rs1426967358	1200	S>L		No	TOPMed gnomAD
rs1426967358	1200	S>W		No	TOPMed gnomAD
rs2125319666	1201	S>R		No	Ensembl
rs1574915081	1201	S>R		No	Ensembl
rs1574915069	1201	S>T		No	Ensembl
rs1472694896	1202	P>A		No	gnomAD
rs953627979	1202	P>L		No	TOPMed gnomAD
rs2059908844	1204	S>L		No	gnomAD
rs1257045285	1207	N>D		No	gnomAD
rs2059908484	1212	A>T		No	Ensembl
rs780659874	1212	A>V		No	ExAC TOPMed gnomAD
rs1432340467 COSM1154054	1214	D>N	large_intestine endometrium [Cosmic]	No	cosmic curated TOPMed gnomAD
rs2059908240	1216	G>E		No	Ensembl
rs1574914934	1218	N>T		No	TOPMed
rs1237796914	1219	L>M		No	TOPMed
COSM1184060 rs765910999	1220	T>M	large_intestine breast [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1574914845	1221	T>P		No	Ensembl
rs1472634369	1222	D>E		No	gnomAD
rs764236179	1222	D>N		No	ExAC gnomAD
rs1397790233	1224	S>N		No	TOPMed gnomAD
rs2059907467	1227	A>G		No	TOPMed
rs1337254392	1233	G>R		No	gnomAD
rs2059907033	1235	P>A		No	Ensembl
rs2059906964	1236	I>F		No	gnomAD
rs1454168225	1239	L>P		No	gnomAD
rs2059906743	1241	T>M		No	Ensembl
rs1293257670	1242	S>*		No	TOPMed gnomAD
rs1293257670	1242	S>L		No	TOPMed gnomAD

2 associated diseases with Q01814

[MIM: 619804]: Deafness, autosomal dominant, 82 (DFNA82)

A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DNFA82 is characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DNFA82 is characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade. . Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q01814

Type	Name	Position	InterPro Accession
domain	Cation-transporting P-type ATPase, N-terminal	47 - 123	IPR004014
domain	Cation-transporting P-type ATPase, C-terminal	903 - 1081	IPR006068
ptm	P-type ATPase, phosphorylation site	499 - 505	IPR018303
domain	Plasma membrane calcium transporting P-type ATPase, C-terminal	1126 - 1172	IPR022141
domain	P-type ATPase, haloacid dehalogenase domain	479 - 870	IPR044492

Functions

		Description
EC Number	7.2.2.10	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Synapse ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
dendritic spine membrane	The portion of the plasma membrane surrounding a dendritic spine.
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.
GABA-ergic synapse	A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
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.
neuronal cell body membrane	The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites.
parallel fiber to Purkinje cell synapse	An excitatory synapse formed by the parallel fibers of granule cells synapsing onto the dendrites of Purkinje cells.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density membrane	The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated.
presynaptic active zone membrane	The membrane portion of the presynaptic active zone; it is the site where docking and fusion of synaptic vesicles occurs for the release of neurotransmitters.

9 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction
calcium ion binding	Binding to a calcium ion (Ca2+).
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
glutamate receptor binding	Binding to a glutamate receptor.
metal ion binding	Binding to a metal ion.
P-type calcium transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction
P-type calcium transporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	A calcium-transporting P-type ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration.
PDZ domain binding	Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins.

7 GO annotations of biological process

Name	Definition
calcium ion transport	The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
monoatomic ion transmembrane transport	A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom.
neural retina development	The progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
regulation of cardiac conduction	Any process that modulates the frequency, rate or extent of cardiac conduction.
regulation of cytosolic calcium ion concentration	Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings.
sensory perception of sound	The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.

31 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38929	PMC1	Calcium-transporting ATPase 2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
D3K0R6	ATP2B4	Plasma membrane calcium-transporting ATPase 4	Bos taurus (Bovine)	SS
P23634	ATP2B4	Plasma membrane calcium-transporting ATPase 4	Homo sapiens (Human)	EV
P20020	ATP2B1	Plasma membrane calcium-transporting ATPase 1	Homo sapiens (Human)	SS
Q16720	ATP2B3	Plasma membrane calcium-transporting ATPase 3	Homo sapiens (Human)	EV
G5E829	Atp2b1	Plasma membrane calcium-transporting ATPase 1	Mus musculus (Mouse)	SS
Q6Q477	Atp2b4	Plasma membrane calcium-transporting ATPase 4	Mus musculus (Mouse)	SS
Q9R0K7	Atp2b2	Plasma membrane calcium-transporting ATPase 2	Mus musculus (Mouse)	SS
P23220	ATP2B1	Plasma membrane calcium-transporting ATPase 1	Sus scrofa (Pig)	SS
Q64542	Atp2b4	Plasma membrane calcium-transporting ATPase 4	Rattus norvegicus (Rat)	SS
P11505	Atp2b1	Plasma membrane calcium-transporting ATPase 1	Rattus norvegicus (Rat)	SS
Q64568	Atp2b3	Plasma membrane calcium-transporting ATPase 3	Rattus norvegicus (Rat)	SS
P11506	Atp2b2	Plasma membrane calcium-transporting ATPase 2	Rattus norvegicus (Rat)	SS
Q8RUN1	ACA1	Calcium-transporting ATPase 1, plasma membrane-type	Oryza sativa subsp japonica (Rice)	SS
Q2QY12	ACA9	Probable calcium-transporting ATPase 9, plasma membrane-type	Oryza sativa subsp japonica (Rice)	SS
Q6ATV4	ACA3	Calcium-transporting ATPase 3, plasma membrane-type	Oryza sativa subsp japonica (Rice)	SS
Q2QMX9	ACA10	Calcium-transporting ATPase 10, plasma membrane-type	Oryza sativa subsp japonica (Rice)	SS
Q7XEK4	ACA7	Calcium-transporting ATPase 7, plasma membrane-type	Oryza sativa subsp japonica (Rice)	EV
Q7X8B5	ACA5	Calcium-transporting ATPase 5, plasma membrane-type	Oryza sativa subsp japonica (Rice)	SS
Q2RAS0	ACA8	Probable calcium-transporting ATPase 8, plasma membrane-type	Oryza sativa subsp japonica (Rice)	SS
Q65X71	ACA6	Probable calcium-transporting ATPase 6, plasma membrane-type	Oryza sativa subsp japonica (Rice)	SS
O22218	ACA4	Calcium-transporting ATPase 4, plasma membrane-type	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9M2L4	ACA11	Putative calcium-transporting ATPase 11, plasma membrane-type	Arabidopsis thaliana (Mouse-ear cress)	SS
O64806	ACA7	Putative calcium-transporting ATPase 7, plasma membrane-type	Arabidopsis thaliana (Mouse-ear cress)	SS
O81108	ACA2	Calcium-transporting ATPase 2, plasma membrane-type	Arabidopsis thaliana (Mouse-ear cress)	EV
Q9LY77	ACA12	Calcium-transporting ATPase 12, plasma membrane-type	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9LIK7	ACA13	Putative calcium-transporting ATPase 13, plasma membrane-type	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9LU41	ACA9	Calcium-transporting ATPase 9, plasma membrane-type	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9LF79	ACA8	Calcium-transporting ATPase 8, plasma membrane-type	Arabidopsis thaliana (Mouse-ear cress)	EV
Q9SZR1	ACA10	Calcium-transporting ATPase 10, plasma membrane-type	Arabidopsis thaliana (Mouse-ear cress)	SS
Q37145	ACA1	Calcium-transporting ATPase 1	Arabidopsis thaliana (Mouse-ear cress)	SS

10	20	30	40	50	60
MGDMTNSDFY	SKNQRNESSH	GGEFGCTMEE	LRSLMELRGT	EAVVKIKETY	GDTEAICRRL
70	80	90	100	110	120
KTSPVEGLPG	TAPDLEKRKQ	IFGQNFIPPK	KPKTFLQLVW	EALQDVTLII	LEIAAIISLG
130	140	150	160	170	180
LSFYHPPGEG	NEGCATAQGG	AEDEGEAEAG	WIEGAAILLS	VICVVLVTAF	NDWSKEKQFR
190	200	210	220	230	240
GLQSRIEQEQ	KFTVVRAGQV	VQIPVAEIVV	GDIAQVKYGD	LLPADGLFIQ	GNDLKIDESS
250	260	270	280	290	300
LTGESDQVRK	SVDKDPMLLS	GTHVMEGSGR	MLVTAVGVNS	QTGIIFTLLG	AGGEEEEKKD
310	320	330	340	350	360
KKGVKKGDGL	QLPAADGAAA	SNAADSANAS	LVNGKMQDGN	VDASQSKAKQ	QDGAAAMEMQ
370	380	390	400	410	420
PLKSAEGGDA	DDRKKASMHK	KEKSVLQGKL	TKLAVQIGKA	GLVMSAITVI	ILVLYFTVDT
430	440	450	460	470	480
FVVNKKPWLP	ECTPVYVQYF	VKFFIIGVTV	LVVAVPEGLP	LAVTISLAYS	VKKMMKDNNL
490	500	510	520	530	540
VRHLDACETM	GNATAICSDK	TGTLTTNRMT	VVQAYVGDVH	YKEIPDPSSI	NTKTMELLIN
550	560	570	580	590	600
AIAINSAYTT	KILPPEKEGA	LPRQVGNKTE	CGLLGFVLDL	KQDYEPVRSQ	MPEEKLYKVY
610	620	630	640	650	660
TFNSVRKSMS	TVIKLPDESF	RMYSKGASEI	VLKKCCKILN	GAGEPRVFRP	RDRDEMVKKV
670	680	690	700	710	720
IEPMACDGLR	TICVAYRDFP	SSPEPDWDNE	NDILNELTCI	CVVGIEDPVR	PEVPEAIRKC
730	740	750	760	770	780
QRAGITVRMV	TGDNINTARA	IAIKCGIIHP	GEDFLCLEGK	EFNRRIRNEK	GEIEQERIDK
790	800	810	820	830	840
IWPKLRVLAR	SSPTDKHTLV	KGIIDSTHTE	QRQVVAVTGD	GTNDGPALKK	ADVGFAMGIA
850	860	870	880	890	900
GTDVAKEASD	IILTDDNFSS	IVKAVMWGRN	VYDSISKFLQ	FQLTVNVVAV	IVAFTGACIT
910	920	930	940	950	960
QDSPLKAVQM	LWVNLIMDTF	ASLALATEPP	TETLLLRKPY	GRNKPLISRT	MMKNILGHAV
970	980	990	1000	1010	1020
YQLALIFTLL	FVGEKMFQID	SGRNAPLHSP	PSEHYTIIFN	TFVMMQLFNE	INARKIHGER
1030	1040	1050	1060	1070	1080
NVFDGIFRNP	IFCTIVLGTF	AIQIVIVQFG	GKPFSCSPLQ	LDQWMWCIFI	GLGELVWGQV
1090	1100	1110	1120	1130	1140
IATIPTSRLK	FLKEAGRLTQ	KEEIPEEELN	EDVEEIDHAE	RELRRGQILW	FRGLNRIQTQ
1150	1160	1170	1180	1190	1200
IRVVKAFRSS	LYEGLEKPES	RTSIHNFMAH	PEFRIEDSQP	HIPLIDDTDL	EEDAALKQNS
1210	1220	1230	1240
SPPSSLNKNN	SAIDSGINLT	TDTSKSATSS	SPGSPIHSLE	TSL