AiPD: Autoinhibited Protein Database

Q14181

Gene name	POLA2
Protein name	DNA polymerase alpha subunit B
Names	DNA polymerase alpha 70 kDa subunit
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23649
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

38-224 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

38-224 (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

12 structures for Q14181

Entry ID	Method	Resolution	Chain	Position	Source
2KEB	NMR	-	A	1-78	PDB
4E2I	X-ray	500 A	1/2/3/4/5/6/7/8/9/U/W	1-78	PDB
4Y97	X-ray	251 A	A/C/E/G	1-598	PDB
5EXR	X-ray	360 A	D/H	2-598	PDB
7OPL	EM	412 A	B	149-598	PDB
7U5C	EM	460 A	D	1-598	PDB
8B9D	EM	340 A	A	1-598	PDB
8D0B	EM	343 A	G	143-598	PDB
8D0K	EM	427 A	G	2-598	PDB
8D9D	EM	359 A	D	155-598	PDB
8QJ7	EM	307 A	B	1-598	PDB
AF-Q14181-F1	Predicted				AlphaFoldDB

421 variants for Q14181

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA381245377 rs1362540700	2	S>C		No	ClinGen TOPMed gnomAD
CA381245381 rs1362540700	2	S>F		No	ClinGen TOPMed gnomAD
rs751609052 CA6094309	2	S>P		No	ClinGen ExAC gnomAD
rs1173191689 CA381245415	4	S>C		No	ClinGen gnomAD
CA6094311 rs151129443	5	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA223948584 rs151129443	5	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141406398 CA6094312	5	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489274594 CA381245433	6	Q>K		No	ClinGen Ensembl
CA6094313 rs756298523	6	Q>R		No	ClinGen ExAC gnomAD
CA381246097 rs1447219226	9	A>E		No	ClinGen gnomAD
rs778706992 CA6094314	9	A>T		No	ClinGen ExAC gnomAD
CA381246115 rs1333869634	10	E>K		No	ClinGen gnomAD
rs1256012426 CA381246187	11	E>D		No	ClinGen gnomAD
rs1237730697 CA381246166	11	E>Q		No	ClinGen gnomAD
rs746493444 CA6094318	16	G>A		No	ClinGen ExAC
rs770516434 CA6094319	18	D>H		No	ClinGen ExAC gnomAD
CA6094321 rs745467476	20	E>G		No	ClinGen ExAC gnomAD
CA6094320 rs776034933	20	E>Q		No	ClinGen ExAC
rs1348784373 CA381246589	21	E>G		No	ClinGen TOPMed
CA6094322 rs769391117	22	A>T		No	ClinGen ExAC gnomAD
CA381246624 rs1199684211	22	A>V		No	ClinGen gnomAD
rs373191135 CA6094323	23	L>V		No	ClinGen ESP ExAC gnomAD
CA223948594 rs986794877	24	I>F		No	ClinGen gnomAD
CA223948595 rs912567810	25	E>G		No	ClinGen Ensembl
TCGA novel	25	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6094326 rs191135388	26	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381248139 rs1243466996	29	E>Q		No	ClinGen TOPMed
CA6094353 rs763914883	32	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381248159 rs1261270219	32	V>I		No	ClinGen gnomAD
CA223949534 rs201563360	33	Q>P		No	ClinGen 1000Genomes
CA381248177 rs377277692	34	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA381248184 rs1387034364	35	G>E		No	ClinGen gnomAD
rs1257631555 CA381248179	35	G>R		No	ClinGen TOPMed
CA6094355 rs757257487	36	Q>*		No	ClinGen ExAC gnomAD
TCGA novel CA6094356 rs781033799	37	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs749929651 CA6094357	38	E>K		No	ClinGen ExAC gnomAD
CA6094358 rs755533400	38	E>V		No	ClinGen ExAC
CA6094360 rs748877523	39	E>K		No	ClinGen ExAC gnomAD
rs1360795179 CA381248246	42	V>L		No	ClinGen gnomAD
CA223949547 rs915411510	43	G>V		No	ClinGen TOPMed
CA6094363 rs748575286	44	E>K		No	ClinGen ExAC gnomAD
CA6094366 rs200613332	47	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6094368 rs776854402	48	F>L		No	ClinGen ExAC TOPMed gnomAD
CA381248348 rs1483672871	49	C>F		No	ClinGen gnomAD
CA381248358 rs1330240143	50	T>I		No	ClinGen TOPMed
CA6094370 rs765622930	53	H>P		No	ClinGen ExAC gnomAD
CA381248406 rs1244819002	53	H>Q		No	ClinGen gnomAD
CA381248403 rs765622930	53	H>R		No	ClinGen ExAC gnomAD
rs769151700 CA6094371	55	V>A		No	ClinGen ExAC gnomAD
rs141442372 CA381248423	56	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6094372 rs141442372	56	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1380808300 CA381248427	57	L>F		No	ClinGen gnomAD
CA6094373 rs767368934	57	L>H		No	ClinGen ExAC TOPMed gnomAD
rs1565466002 CA381248435	58	T>I		No	ClinGen Ensembl
TCGA novel	65	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6094378 rs754617549	65	F>S		No	ClinGen ExAC gnomAD
rs780655073 CA6094379	67	H>D		No	ClinGen ExAC gnomAD
rs748487364 CA6094380	67	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6094390 rs767152818	70	L>V		No	ClinGen ExAC gnomAD
CA6094392 rs140460455	71	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381248535 rs1199704582	71	S>R		No	ClinGen TOPMed gnomAD
rs1017172208 CA223949748	72	K>E		No	ClinGen Ensembl
rs557887501 CA6094393	72	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs897405963 CA223949751	73	R>*		No	ClinGen TOPMed
rs1469638794 CA381248543	73	R>K		No	ClinGen gnomAD
rs1332404074 CA381248554	74	L>F		No	ClinGen gnomAD
CA6094394 rs753310252	75	S>L		No	ClinGen ExAC gnomAD
rs1368462402 CA381248585	79	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	79	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381248603 rs1225396448	82	C>R		No	ClinGen gnomAD
CA381248628 rs1199488315	85	S>G		No	ClinGen TOPMed
CA381248639 rs1281651286	86	G>A		No	ClinGen TOPMed gnomAD
CA6094397 rs752304519	87	H>Y		No	ClinGen ExAC gnomAD
rs758072332 CA6094398	91	R>K		No	ClinGen ExAC gnomAD
rs777941351 CA6094399	96	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1194473629 CA381248701	96	I>V		No	ClinGen TOPMed gnomAD
rs954368008 CA223949763	98	E>G		No	ClinGen Ensembl
CA381248975 rs1161429084	100	I>S		No	ClinGen TOPMed
rs1324866118 CA381248981	101	E>D		No	ClinGen gnomAD
rs376958217 CA6094417	101	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs757591782 CA6094418	101	E>V		No	ClinGen ExAC gnomAD
rs1428406147 CA381248999	104	E>K		No	ClinGen TOPMed gnomAD
rs1428406147 CA381248997	104	E>Q		No	ClinGen TOPMed gnomAD
rs1232373953 CA381249007	105	E>A		No	ClinGen TOPMed
rs138206808 CA6094420	105	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1290299596 CA381249070	114	T>P		No	ClinGen TOPMed
rs1248166593 CA381249082	116	P>T		No	ClinGen gnomAD
rs751183600 CA6094441	119	G>D		No	ClinGen ExAC
CA381249202 rs1462966134	121	Q>*		No	ClinGen gnomAD
rs1165759384 CA381249205	121	Q>R		No	ClinGen TOPMed
CA223951684 rs567561561	123	R>*		No	ClinGen gnomAD
rs370368976 CA6094442	123	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs373779147 CA6094443	124	A>D		No	ClinGen ESP ExAC gnomAD
TCGA novel	124	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184083467 CA381249225	125	I>L		No	ClinGen gnomAD
rs1184083467 CA381249226	125	I>V		No	ClinGen gnomAD
CA381249240 rs1158840873	127	T>N		No	ClinGen gnomAD
rs750871810 CA6094444	127	T>S		No	ClinGen ExAC gnomAD
rs756681528 CA381249247	128	P>L		No	ClinGen ExAC gnomAD
rs756681528 CA6094445	128	P>R		No	ClinGen ExAC gnomAD
rs780646204 CA6094446	129	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1590897113 CA381249256	130	T>P		No	ClinGen Ensembl
CA381249266 rs1565475126	131	P>L		No	ClinGen Ensembl
rs1242492578 CA381249268	132	L>V		No	ClinGen TOPMed
CA381249276 rs1391966197	133	T>R		No	ClinGen gnomAD
CA381249279 rs1330803207	134	K>E		No	ClinGen gnomAD
CA381249296 rs1183921201	136	S>N		No	ClinGen TOPMed
rs778894223 CA6094449	138	S>L		No	ClinGen ExAC TOPMed gnomAD
rs149521848 CA6094450	139	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs367571868 CA223951712	139	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6094451 rs367571868	139	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs745730376 CA6094453	140	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769697685 CA6094455	140	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769697685 CA6094454	140	R>P		No	ClinGen ExAC TOPMed gnomAD
rs768143901 CA6094457	143	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6094458 rs773744224	144	Q>R		No	ClinGen ExAC gnomAD
COSM1509495 rs1455088841 COSM1509496 CA381249353	146	L>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs761542090 CA6094459	146	L>R		No	ClinGen ExAC
rs1431737002 CA381249360	147	S>*		No	ClinGen gnomAD
COSM1355917 COSM1355918 rs1431737002 CA381249361	147	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6094460 rs767341756	148	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1397567078 CA381249364	148	P>S		No	ClinGen TOPMed gnomAD
rs1396776349 CA381249374	150	S>G		No	ClinGen TOPMed
rs766679577 CA6094463	152	S>F		No	ClinGen ExAC gnomAD
rs776274770 CA6094464	153	P>A		No	ClinGen ExAC gnomAD
rs776274770 CA223951745	153	P>S		No	ClinGen ExAC gnomAD
CA381249402 rs1169897992	154	S>T		No	ClinGen TOPMed
rs1293796664 CA381250663	155	A>T		No	ClinGen gnomAD
CA6094485 rs758422885	156	T>I		No	ClinGen ExAC
CA381250709 rs1247428141	157	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6094489 rs779882778	163	S>A		No	ClinGen ExAC gnomAD
rs760986844 CA6094490	163	S>L		No	ClinGen ExAC gnomAD
CA6094491 rs187158521	164	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6094492 rs771254659	164	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748122564 CA6094493	165	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6094495 rs771671574	166	N>K		No	ClinGen ExAC TOPMed gnomAD
COSM1298410 COSM1298411 rs1158684807 CA381250849	167	R>*	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
COSM1221428 rs377028201 COSM1221429 CA6094496	167	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA381250854 rs1410168060	168	G>R		No	ClinGen TOPMed
CA6094497 rs770550003	168	G>V		No	ClinGen ExAC gnomAD
CA6094498 rs777051096	170	V>G		No	ClinGen ExAC gnomAD
rs983144141 CA223952531	170	V>M		No	ClinGen TOPMed
rs759859941 CA6094499	171	V>I		No	ClinGen ExAC TOPMed
CA6094500 rs770313496	173	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381250888 rs1388433205	174	F>L		No	ClinGen gnomAD
CA6094503 rs199754207	175	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381250901 rs1381167162	176	L>V		No	ClinGen gnomAD
CA381250907 rs1193819841	177	A>T		No	ClinGen Ensembl
CA6094504 rs764101844	178	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1034486690 CA223952562	179	G>E		No	ClinGen TOPMed
rs371926841 CA6094505	180	V>I		No	ClinGen ESP ExAC gnomAD
CA6094506 rs762088462	181	S>P		No	ClinGen ExAC gnomAD
CA381250930 rs762088462	181	S>T		No	ClinGen ExAC gnomAD
TCGA novel	181	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781657287 CA6094507	186	G>E		No	ClinGen ExAC gnomAD
CA6094509 rs754677376	188	A>G		No	ClinGen ExAC gnomAD
rs753643599 CA6094508	188	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1343737124 CA381251023	190	N>S		No	ClinGen TOPMed
rs1408154485 CA381251064	193	L>P		No	ClinGen gnomAD
rs777411061 CA6094513	194	K>N		No	ClinGen ExAC gnomAD
rs746570297 CA6094514	195	V>I		No	ClinGen ExAC gnomAD
CA381251132 rs1410722464	198	C>S		No	ClinGen TOPMed gnomAD
CA381251165 rs1436036700	199	P>L		No	ClinGen TOPMed
CA381251170 rs1339036613	200	E>K		No	ClinGen TOPMed gnomAD
rs1339036613 CA381251172	200	E>Q		No	ClinGen TOPMed gnomAD
CA6094516 rs780756159	201	A>T		No	ClinGen ExAC gnomAD
rs745565793 CA6094517	202	L>V		No	ClinGen ExAC gnomAD
CA381251226 rs1375681207	204	G>R		No	ClinGen gnomAD
rs1565478136 CA381251290	208	S>T		No	ClinGen Ensembl
CA381251325 rs1456989314	210	F>L		No	ClinGen TOPMed gnomAD
CA223952628 rs1026031223	214	P>A		No	ClinGen gnomAD
CA381251399 rs1026031223	214	P>T		No	ClinGen gnomAD
CA381251415 rs1379074729	215	D>H		No	ClinGen gnomAD
CA223952631 rs1010423840	215	D>V		No	ClinGen TOPMed
rs769985783 CA6094519	216	I>F		No	ClinGen ExAC gnomAD
rs769985783 CA6094518	216	I>V		No	ClinGen ExAC gnomAD
CA6094520 rs763436090	217	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6094521 rs769214728	217	R>Q		No	ClinGen ExAC gnomAD
CA6094536 rs780756662	220	L>M		No	ClinGen ExAC gnomAD
rs1373571689 CA381251695	221	T>I		No	ClinGen TOPMed
rs1054818773 CA223952806	224	I>V		No	ClinGen TOPMed gnomAD
rs1244589302 CA381251779	225	E>K		No	ClinGen TOPMed gnomAD
CA381251780 rs1244589302	225	E>Q		No	ClinGen TOPMed gnomAD
CA6094537 rs181525791	229	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1458652790 CA381251870	229	S>N		No	ClinGen gnomAD
CA223952815 rs574278314	230	E>D		No	ClinGen Ensembl
CA6094539 rs780391108	230	E>K		No	ClinGen ExAC TOPMed gnomAD
CA381251992 rs1175258659	233	E>K		No	ClinGen TOPMed
CA381252026 rs1454656464	234	H>P		No	ClinGen TOPMed
CA6094540 rs749689852	235	Y>C		No	ClinGen ExAC gnomAD
CA381252088 rs1426596650	236	K>E		No	ClinGen gnomAD
TCGA novel	236	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200106919 CA6094541	236	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA381252235 rs1435520657	240	F>L		No	ClinGen gnomAD
rs771982944 CA6094544	242	P>S		No	ClinGen ExAC gnomAD
rs773359977 CA6094545	243	L>S		No	ClinGen ExAC gnomAD
rs773359977 CA6094546	243	L>W		No	ClinGen ExAC gnomAD
rs1273798281 CA381252303	244	L>V		No	ClinGen gnomAD
TCGA novel	245	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766776733 CA6094547	247	A>G		No	ClinGen ExAC gnomAD
CA6094548 rs775395572	248	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs753418850 CA6094574	249	E>D		No	ClinGen ExAC gnomAD
rs1378788014 CA381230325	249	E>Q		No	ClinGen gnomAD
CA6094575 rs553663668	250	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6094577 rs753174804	250	P>L		No	ClinGen ExAC gnomAD
CA6094576 rs553663668	250	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1256027881 CA381230339	251	V>A		No	ClinGen gnomAD
rs1165973932 CA381230340	252	T>A		No	ClinGen TOPMed
TCGA novel	255	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1472348261 CA381230358	255	G>D		No	ClinGen TOPMed gnomAD
rs778394306 CA6094579	255	G>S		No	ClinGen ExAC gnomAD
CA381230363 rs1565480186	256	Q>*		No	ClinGen Ensembl
CA6094581 rs747543799	257	I>L		No	ClinGen ExAC TOPMed gnomAD
rs781427691 CA6094582	257	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6094580 rs747543799	257	I>V		No	ClinGen ExAC TOPMed gnomAD
rs746075134 CA6094583	258	G>V		No	ClinGen ExAC gnomAD
CA6094584 rs770119314	259	C>W		No	ClinGen ExAC gnomAD
rs773985035 CA6094585	260	D>G		No	ClinGen ExAC gnomAD
TCGA novel	263	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348084530 CA381230479	267	N>S		No	ClinGen gnomAD
rs771782918 CA6094588	268	K>N		No	ClinGen ExAC gnomAD
CA381230513 rs1198509613	270	V>L		No	ClinGen gnomAD
rs147424510 CA6094589	273	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	274	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195557368 CA381230559	276	R>Q		No	ClinGen TOPMed
CA6094591 rs765820961	276	R>W		No	ClinGen ExAC gnomAD
rs1565480325 CA381230562	277	E>Q		No	ClinGen Ensembl
rs753408633 CA6094592	278	H>Q		No	ClinGen ExAC gnomAD
rs1340604340 CA381230574	278	H>R		No	ClinGen gnomAD
rs1272655188 CA381230581	279	S>C		No	ClinGen TOPMed gnomAD
CA6094593 rs562004059	280	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376500520 CA6094595	281	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565480386 CA381230600	283	Q>E		No	ClinGen Ensembl
CA381230602 rs758743364	283	Q>P		No	ClinGen ExAC gnomAD
CA6094596 rs758743364	283	Q>R		No	ClinGen ExAC gnomAD
rs752047249 CA6094598	287	D>N		No	ClinGen ExAC gnomAD
rs752047249 CA6094599	287	D>Y		No	ClinGen ExAC gnomAD
CA223939879 rs370543097	290	E>K		No	ClinGen ESP TOPMed gnomAD
rs1390054291 CA381230723	293	E>K		No	ClinGen Ensembl
CA6094602 rs373645442	294	Y>*		No	ClinGen ESP ExAC TOPMed
rs780271773 CA6094603	297	F>L		No	ClinGen ExAC gnomAD
CA381230803 rs1342164733	299	G>*		No	ClinGen TOPMed
rs200740193 CA6094617	303	I>F		No	ClinGen ExAC gnomAD
CA381231032 rs1185654287	304	M>V		No	ClinGen TOPMed
rs1261496526 CA381231127	309	T>I		No	ClinGen gnomAD
CA381231158 rs1210312537	311	G>A		No	ClinGen gnomAD
rs768186519 CA6094618	311	G>C		No	ClinGen ExAC gnomAD
rs1184126869 CA381231210	313	K>N		No	ClinGen gnomAD
CA6094619 rs750986880	313	K>Q		No	ClinGen ExAC gnomAD
CA6094620 rs137913617	313	K>R		No	ClinGen ESP ExAC gnomAD
CA6094621 rs192640239	314	L>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	314	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381231284 rs1363967565	318	K>Q		No	ClinGen gnomAD
CA6094624 rs755216236	318	K>R		No	ClinGen ExAC gnomAD
CA6094623 rs755216236	318	K>T		No	ClinGen ExAC gnomAD
CA6094626 rs770837681	320	Y>C		No	ClinGen ExAC gnomAD
CA223940082 rs895493418	321	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6094646 rs748395322	323	V>M		No	ClinGen ExAC gnomAD
CA381231584 rs1188931966	325	L>F		No	ClinGen TOPMed
CA381231677 rs1425855701	329	Q>L		No	ClinGen TOPMed
CA381231701 rs1193664250	330	P>H		No	ClinGen TOPMed
rs780969705 CA6094648	330	P>S		No	ClinGen ExAC gnomAD
CA381231780 rs1437244254	333	E>D		No	ClinGen Ensembl
CA6094650 rs769679791	334	D>N		No	ClinGen ExAC gnomAD
CA381231823 rs1258345801	335	A>T		No	ClinGen TOPMed
rs55765473 CA6094665	337	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs909301003 CA223941770	340	S>N		No	ClinGen Ensembl
rs781028427 CA6094666	341	M>T		No	ClinGen ExAC TOPMed
CA381232798 rs1377709709	344	V>L		No	ClinGen TOPMed
CA381232825 rs1245404958	346	C>R		No	ClinGen gnomAD
CA6094667 rs750224445	346	C>Y		No	ClinGen ExAC gnomAD
CA381232840 rs1424137321	347	G>R		No	ClinGen gnomAD
CA6094668 rs756054201	348	P>L		No	ClinGen ExAC gnomAD
rs150043535 CA223941786	349	Y>H		No	ClinGen ESP
rs779805715 CA6094670	351	T>A		No	ClinGen ExAC gnomAD
rs749278416 CA6094671	352	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1590905843 CA381232912	353	D>N		No	ClinGen Ensembl
rs768210987 CA6094672	354	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6094673 rs778576333	356	T>M		No	ClinGen ExAC gnomAD
rs778576333 CA381232967	356	T>R		No	ClinGen ExAC gnomAD
CA6094675 rs771914577	357	Y>D		No	ClinGen ExAC gnomAD
rs771353925 CA6094679	358	D>E		No	ClinGen ExAC gnomAD
rs760997859 CA6094677	358	D>G		No	ClinGen ExAC TOPMed
rs760997859 CA381232998	358	D>V		No	ClinGen ExAC TOPMed
rs1225555608 CA381233021	360	L>V		No	ClinGen gnomAD
CA223941819 rs1012190018	361	L>I		No	ClinGen TOPMed
rs1021807985 CA223941824	364	I>T		No	ClinGen TOPMed
rs112783160 CA223941832	368	N>D		No	ClinGen Ensembl
CA381233138 rs1209697939	368	N>K		No	ClinGen TOPMed gnomAD
CA381233129 rs1451426543	368	N>S		No	ClinGen gnomAD
CA381233156 rs1160452752	370	D>N		No	ClinGen Ensembl
rs1463987297 CA381233177	371	R>Q		No	ClinGen gnomAD
CA223941834 rs972657932	371	R>W		No	ClinGen gnomAD
rs1296486982 CA381233192	372	P>L		No	ClinGen gnomAD
rs1399452801 CA381233184	372	P>S		No	ClinGen gnomAD
TCGA novel	377	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223942242 rs772779916	378	F>I		No	ClinGen Ensembl
CA381233812 rs1473082041	378	F>S		No	ClinGen gnomAD
rs1473082041 CA381233811	378	F>Y		No	ClinGen gnomAD
CA381233862 rs1354049597	381	F>S		No	ClinGen gnomAD
CA223942247 rs993590660	383	D>E		No	ClinGen TOPMed gnomAD
rs1325174671 CA381233917	383	D>H		No	ClinGen TOPMed
rs760274602 CA223942250	384	A>T		No	ClinGen TOPMed gnomAD
CA381234036 rs1281445672	387	E>G		No	ClinGen gnomAD
rs1590906793 CA381234086	388	Q>L		No	ClinGen Ensembl
CA6094695 rs140114790	389	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1402764043 CA381234119	390	E>K		No	ClinGen gnomAD
rs1161311023 CA381234130	390	E>V		No	ClinGen TOPMed
CA381234290 rs1210646210	392	C>S		No	ClinGen gnomAD
CA381234383 rs746584919	396	S>C		No	ClinGen ExAC TOPMed gnomAD
rs746584919 CA6094714	396	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1453082456 CA381234388	396	S>N		No	ClinGen gnomAD
CA6094716 rs781533324	397	P>S		No	ClinGen ExAC gnomAD
rs746273543 CA6094717	399	E>K		No	ClinGen ExAC gnomAD
rs201117545 CA223942424	400	D>E		No	ClinGen gnomAD
rs1387782504 CA381234514	400	D>G		No	ClinGen gnomAD
rs775933859 CA6094719	402	F>V		No	ClinGen ExAC TOPMed gnomAD
rs768561220 CA6094721	404	Q>K		No	ClinGen ExAC gnomAD
CA381234669 rs1325854702	406	L>R		No	ClinGen TOPMed gnomAD
rs1230708596 CA381234675	407	R>*		No	ClinGen gnomAD
rs143904136 CA381234677	407	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6094723 rs143904136	407	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6094724 rs767818552	408	T>A		No	ClinGen ExAC gnomAD
rs776547900 CA6094725	411	E>D		No	ClinGen ExAC gnomAD
CA223943592 rs976715615	417	G>S		No	ClinGen TOPMed gnomAD
CA223943594 rs866400198	420	L>F		No	ClinGen Ensembl
COSM1221430 rs1329580446 CA381235848 COSM1221431	424	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	428	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6094747 rs773530905	429	V>M		No	ClinGen ExAC gnomAD
CA6094749 rs148938869	430	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6094751 rs762796260	431	H>R		No	ClinGen ExAC gnomAD
CA6094750 rs775483476	431	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6094753 rs751012369	432	E>D		No	ClinGen ExAC gnomAD
rs764133988 CA6094752	432	E>K		No	ClinGen ExAC TOPMed gnomAD
CA381235938 rs1334890442	433	P>T		No	ClinGen TOPMed
rs142790860 CA6094754	434	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6094755 rs142790860	434	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA223943608 rs201506909	435	Y>*		No	ClinGen gnomAD
rs1590910443 CA381235962	435	Y>S		No	ClinGen Ensembl
CA223943610 rs866643258	436	P>S		No	ClinGen Ensembl
rs750018486 CA6094756	437	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA381235983 rs750018486	437	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs755822124 CA6094757	438	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1238489109 CA381235988	438	P>T		No	ClinGen TOPMed gnomAD
CA381236000 rs1590910489	439	P>S		No	ClinGen Ensembl
rs780388902 CA6094758	440	F>L		No	ClinGen ExAC gnomAD
CA6094759 rs754266205	443	S>T		No	ClinGen ExAC gnomAD
rs191375625 CA6094760	444	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs191375625 CA6094761	444	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6094762 rs191375625	444	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772215288 CA6094763	446	S>P		No	ClinGen ExAC
CA6094764 rs778016625	447	R>*		No	ClinGen ExAC gnomAD
CA6094766 rs747221100	447	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6094765 rs747221100	447	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6094768 rs775118371	450	K>*		No	ClinGen ExAC TOPMed gnomAD
CA223943628 rs775118371	450	K>E		No	ClinGen ExAC TOPMed gnomAD
CA6094782 rs759036403	452	Q>E		No	ClinGen ExAC gnomAD
CA223943683 rs372745086	457	S>P		No	ClinGen ESP TOPMed gnomAD
CA381236261 rs1274911690	457	S>Y		No	ClinGen gnomAD
rs747126983 CA6094784	458	E>K		No	ClinGen ExAC TOPMed gnomAD
CA223943686 rs756134521	460	C>G		No	ClinGen Ensembl
rs757531675 CA6094785	462	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6094786 rs781428482	466	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6094787 rs746080081	467	V>M		No	ClinGen ExAC gnomAD
CA6094788 rs768438427	468	I>M		No	ClinGen ExAC gnomAD
CA6094790 rs748072614	470	G>C		No	ClinGen ExAC TOPMed gnomAD
CA6094791 rs772033629	470	G>D		No	ClinGen ExAC gnomAD
CA381236460 rs748072614	470	G>S		No	ClinGen ExAC TOPMed gnomAD
CA381236610 rs1436869917	477	L>P		No	ClinGen gnomAD
CA6094794 rs765840680	478	F>S		No	ClinGen ExAC gnomAD
rs759127825 CA6094796	479	H>R		No	ClinGen ExAC gnomAD
rs753070022 CA381236675	482	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6094798 rs753070022	482	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200610658 CA6094802	483	E>K		No	ClinGen ExAC TOPMed gnomAD
CA381236735 rs1224169409	484	E>A		No	ClinGen gnomAD
CA381236787 rs1468478550	487	S>G		No	ClinGen gnomAD
rs1590910887 CA381236798	487	S>T		No	ClinGen Ensembl
CA223943817 rs747773230	489	S>F		No	ClinGen Ensembl
CA6094816 rs759222059	490	G>R		No	ClinGen ExAC gnomAD
CA381237377 rs1220325560	492	S>P		No	ClinGen gnomAD
rs1271729334 CA381237415	495	F>L		No	ClinGen gnomAD
CA6094817 rs764841476	497	R>*		No	ClinGen ExAC TOPMed gnomAD
rs200848446 CA6094818	497	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368001126 CA6094819	498	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764587230 CA6094820	499	L>P		No	ClinGen ExAC gnomAD
rs757759018 CA6094822	500	K>N		No	ClinGen ExAC gnomAD
CA6094823 rs767626422	501	H>Y		No	ClinGen ExAC gnomAD
CA6094824 rs140980676	502	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	502	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381237584 rs1590911836	508	Y>S		No	ClinGen Ensembl
rs777541517 CA6094850	511	L>V		No	ClinGen ExAC TOPMed gnomAD
rs979948344 CA223943860	512	Y>S		No	ClinGen Ensembl
rs910188981 CA223943861	514	P>L		No	ClinGen TOPMed
rs376934780 CA223943862	515	Q>K		No	ClinGen ESP TOPMed
CA6094851 COSM1736898 COSM1736897 rs751395996	518	M>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1383358557 CA381237679	518	M>V		No	ClinGen TOPMed
CA381237725 rs1232108979	522	Y>C		No	ClinGen gnomAD
CA6094852 rs757200772	522	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA381237753 rs1279889375	524	S>L		No	ClinGen gnomAD
rs745852111 CA6094854	526	Y>C		No	ClinGen ExAC gnomAD
rs1252467012 CA381237780	527	V>I		No	ClinGen gnomAD
rs546255396 CA223943866	529	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs546255396 CA6094856	529	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA381237808 rs1378074875	529	A>V		No	ClinGen gnomAD
CA6094858 rs768460095	531	L>P		No	ClinGen ExAC gnomAD
CA6094860 rs528616418	532	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs773523358 CA6094862	533	V>I		No	ClinGen ExAC gnomAD
rs1401337654 CA381237858	534	T>I		No	ClinGen gnomAD
CA381237853 rs1391128088	534	T>S		No	ClinGen gnomAD
CA381237866 rs761256971	535	P>L		No	ClinGen ExAC TOPMed gnomAD
rs761256971 CA6094863	535	P>R		No	ClinGen ExAC TOPMed gnomAD
CA381237895 rs1302848266	539	I>L		No	ClinGen gnomAD
CA6094864 rs766435094	541	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	548	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223943871 rs373361083	548	V>G		No	ClinGen ESP TOPMed
rs765496060 CA6094867	548	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	552	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	554	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_033896 rs487989	583	G>R		No	UniProt dbSNP
rs7123885 VAR_033897	588	S>N		No	UniProt dbSNP
TCGA novel	590	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q14181

2 regional properties for Q14181

Type	Name	Position	InterPro Accession
domain	DNA polymerase alpha/delta/epsilon, subunit B	342 - 549	IPR007185
domain	DNA polymerase alpha, subunit B, N-terminal	24 - 239	IPR013627

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
alpha DNA polymerase:primase complex	A complex of four polypeptides, comprising large and small DNA polymerase alpha subunits and two primase subunits, which are capable of catalyzing the synthesis of an RNA primer on the lagging strand of replicating DNA and the subsequent synthesis of a smal stretch of DNA. The smaller of the two primase subunits alone can catalyze oligoribonucleotide synthesis.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

1 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

4 GO annotations of biological process

Name	Definition
DNA replication	The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
DNA replication initiation	The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate.
DNA replication, synthesis of RNA primer	The synthesis of a short RNA polymer, usually 4-15 nucleotides long, using one strand of unwound DNA as a template; the RNA then serves as a primer from which DNA polymerases extend synthesis.
protein import into nucleus	The directed movement of a protein from the cytoplasm to the nucleus.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38121	POL12	DNA polymerase alpha subunit B	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P33611	Pola2	DNA polymerase alpha subunit B	Mus musculus (Mouse)	PR
O89043	Pola2	DNA polymerase alpha subunit B	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSASAQQLAE	ELQIFGLDCE	EALIEKLVEL	CVQYGQNEEG	MVGELIAFCT	STHKVGLTSE
70	80	90	100	110	120
ILNSFEHEFL	SKRLSKARHS	TCKDSGHAGA	RDIVSIQELI	EVEEEEEILL	NSYTTPSKGS
130	140	150	160	170	180
QKRAISTPET	PLTKRSVSTR	SPHQLLSPSS	FSPSATPSQK	YNSRSNRGEV	VTSFGLAQGV
190	200	210	220	230	240
SWSGRGGAGN	ISLKVLGCPE	ALTGSYKSMF	QKLPDIREVL	TCKIEELGSE	LKEHYKIEAF
250	260	270	280	290	300
TPLLAPAQEP	VTLLGQIGCD	SNGKLNNKSV	ILEGDREHSS	GAQIPVDLSE	LKEYSLFPGQ
310	320	330	340	350	360
VVIMEGINTT	GRKLVATKLY	EGVPLPFYQP	TEEDADFEQS	MVLVACGPYT	TSDSITYDPL
370	380	390	400	410	420
LDLIAVINHD	RPDVCILFGP	FLDAKHEQVE	NCLLTSPFED	IFKQCLRTII	EGTRSSGSHL
430	440	450	460	470	480
VFVPSLRDVH	HEPVYPQPPF	SYSDLSREDK	KQVQFVSEPC	SLSINGVIFG	LTSTDLLFHL
490	500	510	520	530	540
GAEEISSSSG	TSDRFSRILK	HILTQRSYYP	LYPPQEDMAI	DYESFYVYAQ	LPVTPDVLII
550	560	570	580	590
PSELRYFVKD	VLGCVCVNPG	RLTKGQVGGT	FARLYLRRPA	ADGAERQSPC	IAVQVVRI