Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q8IZM8

Entry ID Method Resolution Chain Position Source
AF-Q8IZM8-F1 Predicted AlphaFoldDB

589 variants for Q8IZM8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs549133632
CA2501624
4 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs915558810
CA78475854
4 E>G No ClinGen
TOPMed
gnomAD
rs1367165538
CA434452425
5 E>D No ClinGen
gnomAD
rs765380778
CA2501625
5 E>G No ClinGen
ExAC
gnomAD
rs1576165612
CA434452428
6 S>G No ClinGen
Ensembl
CA434452441
rs1576165626
7 D>G No ClinGen
Ensembl
rs1204836500
CA434452446
8 Q>E No ClinGen
TOPMed
CA434452454
rs1259652363
9 E>K No ClinGen
TOPMed
gnomAD
rs1201689925
CA434452465
10 A>S No ClinGen
TOPMed
rs1225922908
CA434452466
10 A>V No ClinGen
TOPMed
gnomAD
CA434452473
rs1287680147
11 E>Q No ClinGen
TOPMed
rs769847443
CA78475859
12 R>G No ClinGen
TOPMed
CA434452483
rs1348545652
12 R>H No ClinGen
gnomAD
CA434452490
rs1210846523
13 L>V No ClinGen
gnomAD
CA78475861
rs546100650
14 G>R No ClinGen
1000Genomes
TOPMed
gnomAD
rs73146068
CA2501626
20 I>T No ClinGen
ExAC
gnomAD
rs1248892617
CA434452564
21 V>G No ClinGen
gnomAD
rs1451647020
CA434452587
24 P>A No ClinGen
TOPMed
gnomAD
CA2501627
rs67376749
24 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA434452590
rs67376749
24 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA434452604
rs1390041704
26 G>C No ClinGen
gnomAD
rs1455122274
CA434452606
26 G>D No ClinGen
TOPMed
gnomAD
CA434452605
rs1390041704
26 G>S No ClinGen
gnomAD
rs1478978806
CA434452617
27 P>L No ClinGen
TOPMed
gnomAD
CA2501628
rs777875888
29 G>E No ClinGen
ExAC
gnomAD
rs1177565363
CA434452632
29 G>W No ClinGen
gnomAD
CA434452641
rs1289029734
30 L>H No ClinGen
gnomAD
CA434452658
rs1191183715
32 A>S No ClinGen
gnomAD
rs1042792836
CA78475869
32 A>V No ClinGen
TOPMed
CA434452668
rs1390392258
33 A>V No ClinGen
gnomAD
CA434452688
rs1319669238
35 D>E No ClinGen
TOPMed
gnomAD
rs1432586931
CA434452682
35 D>Y No ClinGen
TOPMed
gnomAD
CA434452694
rs1220918116
36 G>D No ClinGen
TOPMed
gnomAD
CA434452693
rs1371616339
36 G>R No ClinGen
gnomAD
rs1220918116
CA434452696
36 G>V No ClinGen
TOPMed
gnomAD
CA78475871
rs924469750
37 R>G No ClinGen
TOPMed
gnomAD
CA434452703
rs1576165955
37 R>T No ClinGen
Ensembl
CA434452708
rs1232625275
38 G>S No ClinGen
gnomAD
rs1268955581
CA434452720
39 G>D No ClinGen
gnomAD
rs1207188959
CA434452727
40 A>P No ClinGen
gnomAD
CA434452739
rs1576166018
41 G>A No ClinGen
Ensembl
CA434452754
rs747122309
43 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs747122309
CA2501629
43 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA434452753
rs747122309
43 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1193483279
CA434452766
44 N>S No ClinGen
TOPMed
gnomAD
CA434452782
rs1423699173
46 G>D No ClinGen
TOPMed
gnomAD
rs1267398581
CA434452790
47 G>C No ClinGen
TOPMed
rs1432026274
CA434452797
48 G>S No ClinGen
gnomAD
rs756062159
CA2501630
50 G>A No ClinGen
ExAC
gnomAD
rs780148593
CA2501631
52 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1284616927
CA434452842
53 S>R No ClinGen
TOPMed
CA434452844
rs1559681291
53 S>T No ClinGen
Ensembl
rs1438510662
CA434452853
54 R>L No ClinGen
TOPMed
gnomAD
CA434452850
rs1395034348
54 R>W No ClinGen
TOPMed
gnomAD
CA434452863
rs1448812463
55 D>E No ClinGen
TOPMed
rs534572711
CA78475883
58 R>L No ClinGen
1000Genomes
TOPMed
gnomAD
rs534572711
CA78475880
58 R>Q No ClinGen
1000Genomes
TOPMed
gnomAD
rs1366855031
CA434452893
59 R>H No ClinGen
gnomAD
CA434452987
rs1406835584
64 V>I No ClinGen
gnomAD
CA434453074
rs1219701804
72 Q>K No ClinGen
gnomAD
rs1576237773
CA434453092
73 V>G No ClinGen
Ensembl
rs762326399
CA78487399
79 Q>H No ClinGen
TOPMed
gnomAD
rs1187273675
CA434453227
86 C>S No ClinGen
TOPMed
rs1576237838
CA434453237
87 C>F No ClinGen
Ensembl
rs890672936
CA78487412
90 T>K No ClinGen
TOPMed
gnomAD
CA78487401
rs200056059
90 T>P No ClinGen
Ensembl
CA434453280
rs1349203088
91 A>V No ClinGen
TOPMed
gnomAD
CA434453345
rs1453201424
98 E>K No ClinGen
gnomAD
CA434453372
rs1237929688
100 E>A No ClinGen
TOPMed
CA434453408
rs1355729557
103 Q>H No ClinGen
TOPMed
CA434453422
rs1243780280
105 V>I No ClinGen
TOPMed
rs1338941470
CA434453467
109 L>F No ClinGen
TOPMed
CA434455637
rs1368633626
122 R>K No ClinGen
gnomAD
CA434455703
rs1427859796
129 P>S No ClinGen
gnomAD
CA434455728
rs1307524156
132 D>N No ClinGen
TOPMed
gnomAD
CA434455729
rs1307524156
132 D>Y No ClinGen
TOPMed
gnomAD
rs746641811
CA78482856
144 L>V No ClinGen
Ensembl
rs141185743
CA2501642
145 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1449776038
CA434456775
145 R>H No ClinGen
TOPMed
gnomAD
rs1388196208
CA434456842
153 E>K No ClinGen
TOPMed
gnomAD
CA434456882
rs1169878462
157 R>Q No ClinGen
TOPMed
rs1576331486
CA434456902
159 I>T No ClinGen
Ensembl
CA2501643
rs753055554
160 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1167377025
CA434456965
166 E>D No ClinGen
gnomAD
rs1426044958
CA434456969
167 D>H No ClinGen
gnomAD
CA78482868
rs981496765
171 Q>E No ClinGen
TOPMed
rs1332374962
CA434457009
171 Q>H No ClinGen
gnomAD
rs1416375011
CA434457006
171 Q>R No ClinGen
gnomAD
CA434457083
rs1436206422
180 S>A No ClinGen
gnomAD
CA434457114
rs1215700430
183 I>T No ClinGen
TOPMed
CA434457158
rs1576337042
184 V>E No ClinGen
Ensembl
CA434457170
rs1277427699
185 N>I No ClinGen
gnomAD
CA78484099
rs1012301030
186 K>Q No ClinGen
TOPMed
gnomAD
CA2501646
rs751595280
189 S>R No ClinGen
ExAC
gnomAD
CA434457294
rs1284488372
196 F>L No ClinGen
TOPMed
gnomAD
CA434457384
rs1246925251
204 I>L No ClinGen
TOPMed
CA434457434
rs1199570996
208 R>C No ClinGen
TOPMed
gnomAD
CA434457445
rs1248402028
209 I>T No ClinGen
TOPMed
gnomAD
CA434457452
rs1479012484
210 P>T No ClinGen
gnomAD
rs1428830545
CA434457479
213 M>V No ClinGen
gnomAD
rs1043494461
CA78484114
216 I>T No ClinGen
TOPMed
gnomAD
CA434457526
rs1266943045
218 S>F No ClinGen
TOPMed
rs1237378197
CA434457541
220 I>V No ClinGen
gnomAD
rs1382022434
CA434457552
221 N>S No ClinGen
TOPMed
gnomAD
CA434457597
rs1559729140
226 S>N No ClinGen
Ensembl
rs1289338317
CA434457642
231 F>Y No ClinGen
Ensembl
CA434457660
rs1285197301
233 Q>R No ClinGen
gnomAD
CA434457674
rs1295565532
235 L>I No ClinGen
TOPMed
CA434457695
rs1488590322
237 T>I No ClinGen
gnomAD
CA434457733
rs1559729198
241 M>I No ClinGen
Ensembl
rs1437359015
CA434457754
244 V>I No ClinGen
TOPMed
rs538966633
CA78484143
249 F>C No ClinGen
1000Genomes
TOPMed
gnomAD
CA434457810
rs1440851783
250 R>Q No ClinGen
TOPMed
gnomAD
rs1282144289
CA434457809
250 R>W No ClinGen
TOPMed
gnomAD
rs1576338604
CA434457847
254 L>S No ClinGen
Ensembl
rs1301985461
CA544733544
258 C>* No ClinGen
gnomAD
CA434457898
rs1350636022
260 S>G No ClinGen
gnomAD
rs1411143689
CA434457901
260 S>T No ClinGen
gnomAD
CA434457916
rs1559729708
262 I>V No ClinGen
Ensembl
CA2501652
rs755012348
263 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA434457948
rs1334838422
265 I>M No ClinGen
gnomAD
CA434457988
rs1245189285
270 K>E No ClinGen
gnomAD
rs1354159356
CA434458008
272 G>S No ClinGen
gnomAD
CA434458028
rs554418385
274 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2501653
rs554418385
274 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA434458050
rs1395882995
276 L>F No ClinGen
gnomAD
CA434458070
rs1226196108
279 Q>E No ClinGen
TOPMed
rs1334370896
CA434458075
279 Q>H No ClinGen
gnomAD
rs1483384588
CA434458110
283 S>F No ClinGen
gnomAD
CA78484378
rs572790536
284 F>L No ClinGen
1000Genomes
TOPMed
gnomAD
CA434458156
rs1576338749
288 Q>H No ClinGen
Ensembl
rs747962285
CA2501654
296 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA434458230
rs1370630515
297 I>V No ClinGen
TOPMed
gnomAD
rs1258548675
CA434458352
302 F>V No ClinGen
gnomAD
CA2501659
rs77487622
303 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA434458449
rs1451934985
313 P>A No ClinGen
gnomAD
rs755947703
CA78487517
314 S>P No ClinGen
Ensembl
CA434458466
rs1462841151
315 K>E No ClinGen
TOPMed
gnomAD
rs1166164541
CA434458479
316 Q>L No ClinGen
gnomAD
rs1372055011
CA434458484
317 V>F No ClinGen
TOPMed
gnomAD
rs1178173566
CA434458513
320 D>A No ClinGen
TOPMed
CA78487531
rs867156923
329 A>E No ClinGen
Ensembl
rs1190778857
CA434458598
330 T>A No ClinGen
TOPMed
CA434458611
rs1304150394
331 N>S No ClinGen
gnomAD
rs1486031810
CA434458627
333 R>T No ClinGen
TOPMed
rs1260268518
CA434458632
334 V>I No ClinGen
TOPMed
rs777076314
CA2501660
335 I>V No ClinGen
ExAC
gnomAD
CA2501661
rs760017871
336 F>Y No ClinGen
ExAC
gnomAD
rs1213865947
CA434458660
337 P>S No ClinGen
TOPMed
CA434458698
rs1321032258
341 I>T No ClinGen
TOPMed
gnomAD
CA78487556
rs747736134
345 E>K No ClinGen
Ensembl
rs1343677843
CA911670158
349 E>D No ClinGen
TOPMed
rs1219186967
CA911670154
349 E>G No ClinGen
TOPMed
CA78489481
rs1051929551
352 Q>H No ClinGen
TOPMed
CA911670168
rs1370171845
354 C>W No ClinGen
TOPMed
CA78489484
rs890140158
361 A>T No ClinGen
TOPMed
rs943063247
CA78489498
365 D>N No ClinGen
TOPMed
rs1038664025
CA78489511
367 H>L No ClinGen
TOPMed
rs1038664025
CA911670187
367 H>R No ClinGen
TOPMed
CA78489517
rs898944729
368 D>G No ClinGen
TOPMed
rs772722908
CA78489518
373 K>I No ClinGen
TOPMed
gnomAD
CA78489519
rs1026571475
383 F>I No ClinGen
TOPMed
CA78489526
rs187940633
386 N>H No ClinGen
1000Genomes
TOPMed
rs1209952964
CA911670196
388 L>S No ClinGen
TOPMed
CA911670211
rs1305104419
398 I>V No ClinGen
TOPMed
CA78489539
rs111595164
400 F>Y No ClinGen
Ensembl
CA1050568948
rs1576355325
403 R>C No ClinGen
Ensembl
rs1024202867
CA78489546
403 R>H No ClinGen
TOPMed
rs757712233
CA78489552
407 A>S No ClinGen
Ensembl
CA78489570
rs969942704
409 R>C No ClinGen
TOPMed
gnomAD
CA78489588
rs980794333
409 R>H No ClinGen
TOPMed
CA78489599
rs1033677311
414 L>F No ClinGen
TOPMed
CA78489601
rs377367243
416 K>T No ClinGen
Ensembl
rs1179181509
CA1381994360
417 R>C No ClinGen
TOPMed
CA78489610
rs958401685
417 R>H No ClinGen
TOPMed
gnomAD
rs1179181509
CA911670254
417 R>S No ClinGen
TOPMed
CA78489639
rs914062812
419 D>N No ClinGen
TOPMed
rs1211641053
CA544734893
428 S>G No ClinGen
TOPMed
gnomAD
rs1204913962
CA911670268
430 Q>K No ClinGen
TOPMed
CA911670277
rs1328514488
432 R>P No ClinGen
TOPMed
rs1259071243
CA911670283
433 V>I No ClinGen
TOPMed
rs1272282627
CA544734894
439 P>Q No ClinGen
gnomAD
CA544734896
rs1488643876
444 G>R No ClinGen
TOPMed
gnomAD
CA544734897
rs1211254171
455 V>I No ClinGen
TOPMed
gnomAD
rs987581438
CA78489648
459 K>R No ClinGen
TOPMed
rs546935598
CA78489651
469 S>L No ClinGen
1000Genomes
TOPMed
rs1383534988
CA911670316
472 R>G No ClinGen
TOPMed
CA911670317
rs1156322698
475 N>I No ClinGen
TOPMed
CA78489663
rs571801489
478 T>I No ClinGen
1000Genomes
TOPMed
gnomAD
rs1039151377
CA78489673
479 L>V No ClinGen
TOPMed
gnomAD
rs1163687196
CA911670321
481 N>D No ClinGen
TOPMed
rs898794747
CA78489676
481 N>S No ClinGen
TOPMed
rs1163308546
CA544734904
486 L>P No ClinGen
TOPMed
gnomAD
CA78489680
rs538815589
487 K>T No ClinGen
1000Genomes
CA78489687
rs58079813
489 T>M No ClinGen
1000Genomes
TOPMed
gnomAD
rs886290733
CA78489699
490 E>K No ClinGen
TOPMed
rs1206956366
CA911670340
492 Q>K No ClinGen
TOPMed
rs1458615164
CA545016653
495 L>V No ClinGen
gnomAD
CA911670348
rs1312463238
497 E>D No ClinGen
Ensembl
CA78489711
rs375606033
497 E>K No ClinGen
Ensembl
rs1351576233
CA911670355
498 G>E No ClinGen
TOPMed
rs377007356
CA78489723
502 L>F No ClinGen
1000Genomes
TOPMed
gnomAD
CA78489726
rs554589868
504 D>E No ClinGen
1000Genomes
TOPMed
gnomAD
rs527460815
CA78489725
504 D>N No ClinGen
Ensembl
rs375415087
CA78489733
505 Q>R No ClinGen
1000Genomes
TOPMed
gnomAD
rs193026684
CA78489737
507 T>I No ClinGen
1000Genomes
TOPMed
gnomAD
CA911670374
rs1453217139
512 P>A No ClinGen
TOPMed
rs185706322
CA78489749
513 D>H No ClinGen
1000Genomes
TOPMed
rs1322040943
CA545016656
523 H>R No ClinGen
gnomAD
rs140910532
CA78489756
526 T>K No ClinGen
1000Genomes
TOPMed
gnomAD
rs140910532
CA78489758
526 T>M No ClinGen
1000Genomes
TOPMed
gnomAD
CA78489775
rs200300980
527 K>T No ClinGen
Ensembl
rs1011419581
CA78489788
530 L>I No ClinGen
TOPMed
gnomAD
rs570519004
CA78489793
530 L>R No ClinGen
Ensembl
CA2501662
rs765796630
532 A>G No ClinGen
ExAC
gnomAD
rs775907695
CA545016657
533 L>F No ClinGen
ExAC
gnomAD
CA2501663
rs775907695
533 L>I No ClinGen
ExAC
gnomAD
CA1381994475
rs9813894
534 S>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2501664
rs9813894
534 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1466625204
CA545016658
537 K>R No ClinGen
gnomAD
rs764307618
CA2501665
538 V>G No ClinGen
ExAC
gnomAD
CA78489843
rs776929601
538 V>I No ClinGen
gnomAD
rs1447629804
CA911670428
539 D>G No ClinGen
TOPMed
rs1433221792
CA545016659
540 H>N No ClinGen
gnomAD
rs1433221792
CA545016660
540 H>Y No ClinGen
gnomAD
CA2501666
rs370256107
541 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA545016662
rs1469004358
546 R>H No ClinGen
TOPMed
gnomAD
rs202216157
CA78489852
548 M>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs1407795259
CA353653266
550 C>R No ClinGen
TOPMed
gnomAD
CA353653277
rs1159623776
551 N>K No ClinGen
gnomAD
CA78489853
rs964936560
551 N>Y No ClinGen
TOPMed
CA353653285
rs1390635839
552 K>N No ClinGen
gnomAD
rs1326462388
CA353653337
560 V>I No ClinGen
TOPMed
rs767681077
CA2501668
561 R>G No ClinGen
ExAC
gnomAD
rs1576355980
CA353653345
561 R>T No ClinGen
Ensembl
rs1368258034
CA353653379
566 H>Y No ClinGen
gnomAD
CA2501669
rs759352641
569 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1367036850
CA353653433
573 A>E No ClinGen
TOPMed
rs1343844424
CA353653432
573 A>S No ClinGen
gnomAD
rs1269018583
CA353653456
576 I>M No ClinGen
TOPMed
gnomAD
CA2501671
rs779054596
582 R>G No ClinGen
ExAC
CA353653496
rs1394841975
582 R>T No ClinGen
TOPMed
rs752479735
CA2501672
585 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs758133144
CA2501673
586 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1197351449
CA353653527
587 M>L No ClinGen
TOPMed
CA78489894
rs777446476
587 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs777446476
CA2501674
587 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA353653549
rs1204769898
588 Q>H No ClinGen
TOPMed
rs765161957
CA353653594
592 K>R No ClinGen
gnomAD
CA78489905
rs765161957
592 K>T No ClinGen
gnomAD
CA353653625
rs1270659769
594 H>R No ClinGen
TOPMed
CA353653631
rs1455409222
595 V>I No ClinGen
gnomAD
rs780652635
CA2501678
597 K>R No ClinGen
ExAC
CA353653663
rs1559736457
598 I>L No ClinGen
Ensembl
CA2501682
rs770224926
603 I>M No ClinGen
ExAC
gnomAD
rs1553701031
CA2501680
603 I>T No ClinGen
Ensembl
rs763332962
CA2501684
609 D>G No ClinGen
ExAC
rs1295360858
CA353653812
610 D>N No ClinGen
TOPMed
gnomAD
CA353653856
rs1282625946
613 V>G No ClinGen
TOPMed
rs1343651816
CA353653850
613 V>I No ClinGen
gnomAD
CA353653894
rs1352586776
617 E>A No ClinGen
gnomAD
rs767916526
CA2501689
618 E>D No ClinGen
ExAC
gnomAD
CA78489994
rs774708329
619 I>V No ClinGen
Ensembl
CA353653914
rs1221146045
620 N>H No ClinGen
TOPMed
CA2501690
rs750519830
620 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA353653927
rs1233638394
621 C>Y No ClinGen
gnomAD
CA2501691
rs760852980
623 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA2501692
rs765155256
624 S>F No ClinGen
ExAC
gnomAD
CA353653973
rs1490025095
625 S>C No ClinGen
gnomAD
rs752608141
CA2501693
626 I>V No ClinGen
ExAC
gnomAD
CA353653998
rs1253470682
627 S>L No ClinGen
TOPMed
gnomAD
rs1331310424
CA353654009
628 F>C No ClinGen
TOPMed
CA353654079
rs1176383173
634 D>G No ClinGen
gnomAD
CA2501695
rs777410544
635 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs751399779
CA2501696
637 D>E No ClinGen
ExAC
gnomAD
CA2501697
rs560941393
639 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA78490051
rs373820199
640 V>L No ClinGen
Ensembl
CA2501698
rs780834394
643 L>F No ClinGen
ExAC
gnomAD
CA2501699
rs745307128
644 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA353654194
rs1176795363
645 A>G No ClinGen
TOPMed
CA2501701
rs780560315
646 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA2501700
rs769320947
646 S>P No ClinGen
ExAC
gnomAD
rs202161642
CA2501702
647 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2501703
rs377128621
650 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774572944
CA2501705
651 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA2501706
rs762327231
652 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs762327231
CA353654277
652 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA353654333
rs1325004867
655 P>L No ClinGen
TOPMed
rs1203456441
CA353654324
655 P>T No ClinGen
gnomAD
rs1237697514
CA353654345
656 E>D No ClinGen
gnomAD
rs145744097
CA2501707
657 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353654364
rs1281000520
658 V>A No ClinGen
TOPMed
CA353654358
rs138407348
658 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138407348
CA2501708
658 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2501709
rs760797846
659 A>V No ClinGen
ExAC
gnomAD
rs1421811409
CA353654386
660 E>D No ClinGen
TOPMed
gnomAD
rs201484264
CA2501711
660 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766394912
CA2501710
660 E>K No ClinGen
ExAC
gnomAD
rs762771701
CA2501712
662 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs368256659
CA2501714
666 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1360000836
CA353654449
666 I>M No ClinGen
gnomAD
CA2501713
rs368256659
666 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2501715
rs757048477
667 S>G No ClinGen
ExAC
gnomAD
CA2501716
rs767112324
668 V>I No ClinGen
ExAC
gnomAD
CA353654475
rs966806392
669 P>S No ClinGen
TOPMed
gnomAD
rs966806392
CA78490123
669 P>T No ClinGen
TOPMed
gnomAD
rs755838999
CA2501719
673 I>T No ClinGen
ExAC
gnomAD
rs779399826
CA2501720
676 V>L No ClinGen
ExAC
gnomAD
CA353654574
rs1278827045
677 I>T No ClinGen
gnomAD
rs748893650
CA2501721
678 E>K No ClinGen
ExAC
gnomAD
rs1465281327
CA353654619
681 S>R No ClinGen
gnomAD
CA353654651
rs1240290100
683 N>I No ClinGen
TOPMed
gnomAD
rs1240290100
CA353654650
683 N>S No ClinGen
TOPMed
gnomAD
CA2501723
rs779489648
685 S>C No ClinGen
ExAC
gnomAD
rs1167433593
CA353654696
687 N>S No ClinGen
TOPMed
gnomAD
CA353654711
rs1426109943
688 N>S No ClinGen
gnomAD
rs1426109943
CA353654713
688 N>T No ClinGen
gnomAD
CA2501725
rs748459599
692 P>S No ClinGen
ExAC
gnomAD
rs1458110640
CA353654850
698 D>G No ClinGen
gnomAD
CA353654870
rs1320798898
699 D>E No ClinGen
gnomAD
rs1400627013
CA353654866
699 D>G No ClinGen
gnomAD
CA353654872
rs1462610907
700 Y>N No ClinGen
TOPMed
rs772595992
CA2501727
705 D>E No ClinGen
ExAC
gnomAD
CA78490191
rs1019080178
705 D>G No ClinGen
TOPMed
rs1274965998
CA353654971
707 E>K No ClinGen
gnomAD
CA78490220
rs568647405
709 D>E No ClinGen
gnomAD
CA353655007
rs1214457529
710 Y>N No ClinGen
TOPMed
rs773520518
CA2501729
712 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1282005419
CA353655063
714 D>Y No ClinGen
gnomAD
rs1247435511
CA353655095
718 N>D No ClinGen
TOPMed
gnomAD
CA2501732
rs776571548
718 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1247435511
CA353655096
718 N>Y No ClinGen
TOPMed
gnomAD
rs763868413
CA2501734
723 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs537595025
CA78490322
724 I>S No ClinGen
Ensembl
CA353655135
rs1387280705
724 I>V No ClinGen
gnomAD
rs1160700533
CA353655179
727 I>S No ClinGen
gnomAD
CA2501735
rs774298577
727 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA2501736
rs761543001
728 N>H No ClinGen
ExAC
gnomAD
rs375388602
CA2501737
728 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755715010
CA2501739
730 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA2501741
rs753231217
731 V>A No ClinGen
ExAC
gnomAD
CA2501740
rs766111404
731 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs766111404
CA353655219
731 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA78490398
rs368811288
732 C>S No ClinGen
ESP
TOPMed
gnomAD
rs1446294250
CA353655255
734 P>A No ClinGen
TOPMed
rs1240892818
CA353655261
734 P>R No ClinGen
gnomAD
CA2501742
rs754521302
735 K>N No ClinGen
ExAC
gnomAD
rs1349867700
CA353655297
737 I>K No ClinGen
TOPMed
gnomAD
rs1349867700
CA353655299
737 I>T No ClinGen
TOPMed
gnomAD
rs1210422460
CA353655395
745 N>S No ClinGen
gnomAD
CA78490418
rs536331654
747 K>R No ClinGen
1000Genomes
TOPMed
CA2501743
rs371749343
750 A>V No ClinGen
ESP
ExAC
gnomAD
CA353655479
rs1220375941
752 G>R No ClinGen
gnomAD
rs1268416056
CA353655510
754 V>F No ClinGen
gnomAD
rs1268416056
CA353655506
754 V>I No ClinGen
gnomAD
rs983170470
CA78490439
755 R>Q No ClinGen
TOPMed
CA2501745
rs759026152
755 R>W No ClinGen
ExAC
gnomAD
rs1308329178
CA353655533
756 I>M No ClinGen
TOPMed
gnomAD
CA78490447
rs878897642
758 K>* No ClinGen
Ensembl
CA353655589
rs1225180944
761 G>A No ClinGen
TOPMed
rs778253782
CA2501746
761 G>W No ClinGen
ExAC
gnomAD
rs1263765063
CA353655601
762 F>S No ClinGen
TOPMed
gnomAD
rs1364119418
CA353655667
767 A>V No ClinGen
TOPMed
rs771048970
CA2501748
769 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA2501749
rs781477499
770 V>I No ClinGen
ExAC
gnomAD
rs1305236297
CA353655706
771 H>R No ClinGen
TOPMed
CA2501751
rs769937412
773 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA353655726
rs1350276550
773 T>I No ClinGen
TOPMed
rs772062287
CA2501754
774 D>N No ClinGen
ExAC
gnomAD
CA353655753
rs1326594714
776 N>S No ClinGen
gnomAD
rs772977960
CA2501755
778 R>Q No ClinGen
ExAC
gnomAD
rs1477027791
CA353655782
781 V>L No ClinGen
TOPMed
gnomAD
CA353655792
rs1576357453
782 M>I No ClinGen
Ensembl
rs200263940
CA2501756
782 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1243827472
CA353655811
784 W>C No ClinGen
gnomAD
rs765881684
CA2501757
785 S>N No ClinGen
ExAC
gnomAD
rs753558140
CA2501759
785 S>R No ClinGen
ExAC
gnomAD
CA353655823
rs1193456108
786 K>R No ClinGen
gnomAD
rs1197712749
CA353655826
787 G>R No ClinGen
gnomAD
CA2501760
rs764818580
790 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA353655895
rs1266286877
796 F>L No ClinGen
TOPMed
CA2501761
rs752298751
797 E>G No ClinGen
ExAC
TOPMed
rs1488980960
CA353655917
799 S>T No ClinGen
TOPMed
rs778486435
CA353655930
CA353655929
800 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA353655951
rs1443372517
803 I>T No ClinGen
gnomAD
CA353655960
rs1162373557
804 D>E No ClinGen
gnomAD
rs1390314182
CA353655980
807 N>S No ClinGen
TOPMed
gnomAD
CA353656017
rs1396366237
812 P>S No ClinGen
TOPMed
gnomAD
CA353656028
rs1338499194
813 N>K No ClinGen
gnomAD
rs766892285
CA78490615
814 V>M No ClinGen
Ensembl
rs781220403
CA2501766
822 C>R No ClinGen
ExAC
gnomAD
rs746078281
CA353656103
823 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA353656100
rs1367962313
823 N>S No ClinGen
TOPMed
rs754346339
CA78490665
824 E>K No ClinGen
TOPMed
rs1229744501
CA353656181
831 Q>H No ClinGen
gnomAD
rs771937801
CA353656257
837 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA2501771
rs771937801
837 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2501772
rs773206561
837 K>R No ClinGen
ExAC
CA2501773
rs760348433
840 R>K No ClinGen
ExAC
gnomAD
rs7653652
CA353656319
841 I>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353656321
rs7653652
841 I>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs7653652
CA2501774
841 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353656316
rs1367391924
841 I>V No ClinGen
TOPMed
gnomAD
rs1460363266
CA353656353
843 Q>H No ClinGen
gnomAD
CA2501776
rs759199297
847 S>R No ClinGen
ExAC
gnomAD
CA2501777
rs765051581
850 E>Q No ClinGen
ExAC
gnomAD
CA2501778
rs752245840
852 H>R No ClinGen
ExAC
gnomAD
CA353656461
rs1372107816
853 E>K No ClinGen
gnomAD
CA2501779
rs762570330
856 E>Q No ClinGen
ExAC
gnomAD
rs369377564
CA78490744
858 L>F No ClinGen
ESP
TOPMed
CA2501780
rs764652681
859 P>S No ClinGen
ExAC
gnomAD
CA2501781
rs752125886
860 L>P No ClinGen
ExAC
gnomAD
CA353656511
rs752125886
860 L>R No ClinGen
ExAC
gnomAD
CA353656509
rs1403553817
860 L>V No ClinGen
gnomAD
rs781585825
CA2501783
862 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1203615424
CA353656526
863 E>K No ClinGen
TOPMed
CA2501784
rs750818066
866 A>T No ClinGen
ExAC
gnomAD
CA353656619
rs1304871697
871 S>N No ClinGen
gnomAD
rs1326071501
CA353656627
872 K>E No ClinGen
gnomAD
CA353656642
rs1224422389
873 T>I No ClinGen
gnomAD
rs1265085456
CA353656658
875 E>A No ClinGen
TOPMed
CA2501785
rs756313349
875 E>Q No ClinGen
ExAC
gnomAD
rs376694512
CA2501786
877 S>C No ClinGen
ESP
ExAC
gnomAD
rs1559737985
CA353656680
877 S>P No ClinGen
Ensembl
rs74740069
CA78490817
878 A>E No ClinGen
Ensembl
CA353656692
rs1487167562
878 A>T No ClinGen
gnomAD
CA78490821
rs779311075
881 S>N No ClinGen
Ensembl
CA2501788
rs577027743
882 E>G No ClinGen
1000Genomes
ExAC
gnomAD
CA2501791
rs770815826
884 I>M No ClinGen
ExAC
gnomAD
CA2501790
rs746945497
884 I>S No ClinGen
ExAC
gnomAD
CA2501789
rs57459670
884 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353656930
rs1305211073
891 D>Y No ClinGen
TOPMed
rs1479965470
CA353656989
893 N>D No ClinGen
gnomAD
CA353657050
rs1441083452
895 N>H No ClinGen
TOPMed
CA78490862
rs1010566746
895 N>I No ClinGen
TOPMed
gnomAD
rs1010566746
CA353657084
895 N>S No ClinGen
TOPMed
gnomAD
CA353657081
rs1441083452
895 N>Y No ClinGen
TOPMed
CA2501792
rs776483646
900 S>L No ClinGen
ExAC
gnomAD
rs1287183930
CA353657252
901 S>C No ClinGen
gnomAD
rs1287183930
CA353657254
901 S>F No ClinGen
gnomAD
CA2501793
rs745717766
902 S>G No ClinGen
ExAC
gnomAD
CA353657286
rs1451859131
903 N>S No ClinGen
TOPMed
CA353657313
rs548146174
904 E>* No ClinGen
TOPMed
gnomAD
rs548146174
CA78490873
904 E>K No ClinGen
TOPMed
gnomAD
CA353657363
rs1177981253
906 Q>R No ClinGen
TOPMed
CA2501795
rs775289436
908 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA2501794
rs369986733
908 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA78490879
rs866664587
908 I>V No ClinGen
TOPMed
CA2501797
rs763673082
910 L>V No ClinGen
ExAC
gnomAD
CA2501798
rs773770638
911 P>A No ClinGen
ExAC
gnomAD
CA2501801
rs767964701
916 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA2501800
rs767964701
916 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1008952261
CA78490963
918 R>K No ClinGen
TOPMed
rs61730544
CA2501802
921 S>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA78490964
rs61730544
921 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2501803
rs766548301
922 T>I No ClinGen
ExAC
gnomAD
CA353657723
rs1259158872
924 P>R No ClinGen
TOPMed
rs1294557744
CA353657766
926 T>R No ClinGen
TOPMed
gnomAD
rs1487607145
CA353657773
927 C>R No ClinGen
TOPMed
gnomAD
CA2501805
rs755244220
927 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs748246482
CA2501807
928 I>T No ClinGen
ExAC
gnomAD
CA2501806
rs779021430
928 I>V No ClinGen
ExAC
gnomAD
CA2501808
rs542702882
930 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs568095642
CA353657856
931 M>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs568095642
CA2501809
931 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2501810
rs745595096
932 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA353657887
rs1559738391
934 K>E No ClinGen
Ensembl
rs996386913
CA78491038
937 S>G No ClinGen
TOPMed
gnomAD
rs1363934550
CA353657910
937 S>N No ClinGen
gnomAD
rs1421146524
CA353657920
938 L>F No ClinGen
TOPMed
CA2501812
rs775471030
939 V>A No ClinGen
ExAC
TOPMed
rs748915617
CA2501813
940 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs773897741
CA2501815
944 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs761241273
CA2501816
945 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA353657965
rs1188906376
945 R>H No ClinGen
TOPMed
rs768000896
CA2501817
947 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs1360843277
CA353657983
948 D>H No ClinGen
gnomAD
rs773738869
CA2501818
949 T>A No ClinGen
ExAC
gnomAD
rs760980508
CA2501819
949 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA353657993
rs766707695
950 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs766707695
CA2501820
950 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA353658005
rs1479506352
952 N>D No ClinGen
gnomAD
rs1479506352
CA353658004
952 N>H No ClinGen
gnomAD
rs1176437052
CA353658008
952 N>S No ClinGen
TOPMed
gnomAD
CA353658016
rs1559738522
953 I>T No ClinGen
Ensembl
rs1446437984
CA353658040
956 I>M No ClinGen
gnomAD
CA353658045
rs1165546714
957 D>G No ClinGen
gnomAD
CA2501822
rs755190943
960 M>I No ClinGen
ExAC
gnomAD
rs1404856213
CA353658074
961 P>A No ClinGen
gnomAD
CA2501823
rs765439537
963 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA2501824
rs752767748
964 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs757980594
CA2501826
969 N>D No ClinGen
ExAC
gnomAD
rs756158315
CA353658147
971 C>F No ClinGen
ExAC
gnomAD
CA353658146
rs756158315
971 C>S No ClinGen
ExAC
gnomAD
rs756158315
CA2501828
971 C>Y No ClinGen
ExAC
gnomAD
rs1401375079
CA353658173
974 S>R No ClinGen
TOPMed
rs370961902
CA2501831
976 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1214665856
CA353658183
976 I>V No ClinGen
TOPMed
gnomAD
CA2501832
rs778434469
978 N>S No ClinGen
ExAC
gnomAD
rs746479451
CA78491117
980 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs772758483
CA2501835
985 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs771496301
CA2501837
986 T>P No ClinGen
ExAC
gnomAD
CA353658262
rs1187227591
987 P>L No ClinGen
TOPMed
gnomAD
rs1187227591
CA353658261
987 P>R No ClinGen
TOPMed
gnomAD
rs776969855
CA2501838
988 L>S No ClinGen
ExAC
gnomAD
CA353658286
rs1421889930
991 S>L No ClinGen
gnomAD
rs759835377
CA2501839
992 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs1408490022
CA353658289
992 D>Y No ClinGen
gnomAD
rs184110381
CA2501840
993 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1407212235
CA353658296
993 P>S No ClinGen
gnomAD
rs1335253637
CA353658302
994 A>V No ClinGen
gnomAD
CA2501841
rs373492589
997 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1430776081
CA353658333
998 D>E No ClinGen
gnomAD
CA2501842
rs377604926
999 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377604926
CA353658338
999 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764234010
CA2501843
1000 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA2501844
rs370947934
1000 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374370953
CA78491205
1001 R>G No ClinGen
ESP
TOPMed
rs200508808
CA78491209
1002 I>L No ClinGen
Ensembl
CA353658356
rs368756766
1002 I>M No ClinGen
ESP
ExAC
gnomAD
rs780152251
CA2501846
1003 R>K No ClinGen
ExAC
gnomAD
rs753618859
CA2501847
CA353658361
1003 R>S No ClinGen
ExAC
gnomAD
rs754759360
CA2501848
1005 E>G No ClinGen
ExAC
gnomAD
rs778578256
CA2501849
1008 S>Y No ClinGen
ExAC
gnomAD
rs747734872
CA2501850
1011 P>T No ClinGen
ExAC
gnomAD
CA353658430
rs1193142519
1014 V>A No ClinGen
TOPMed
gnomAD
CA2501851
rs771797638
1014 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1481598799
CA353658437
1015 P>L No ClinGen
gnomAD
CA2501854
rs143384053
1020 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353658473
rs143384053
1020 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353658487
rs1324632504
1022 P>L No ClinGen
TOPMed
CA353658495
rs1208512569
1024 S>A No ClinGen
gnomAD
CA353658498
rs1394960994
1024 S>C No ClinGen
TOPMed
rs759908248
CA2501856
1026 A>S No ClinGen
ExAC
gnomAD
CA353658515
rs1283484750
1027 P>S No ClinGen
gnomAD
rs770081947
CA2501857
1028 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs775958795
CA2501858
1030 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA353658551
rs1174464548
1033 T>A No ClinGen
TOPMed
CA2501859
rs763077512
1033 T>I No ClinGen
ExAC
gnomAD
CA78491309
rs562938008
1034 S>R No ClinGen
1000Genomes
rs764466667
CA2501860
1035 E>V No ClinGen
ExAC
gnomAD
rs761987864
CA2501862
1036 H>R No ClinGen
ExAC
CA2501861
rs751630765
1036 H>Y No ClinGen
ExAC
gnomAD
rs753741791
CA2501864
1038 S>P No ClinGen
ExAC
gnomAD
CA353658590
rs1216021388
1039 Y>H No ClinGen
gnomAD
rs764910864
CA2501866
1044 T>A No ClinGen
ExAC
gnomAD
rs1184835192
CA353658667
1045 K>R No ClinGen
gnomAD
rs199884128
CA2501869
1048 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199884128
CA2501868
1048 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2501871
rs756795164
1054 S>T No ClinGen
ExAC
gnomAD
rs1418528952
CA353658841
1057 D>H No ClinGen
TOPMed
gnomAD
CA353658873
rs1303285878
1059 R>Q No ClinGen
TOPMed
gnomAD
rs746325430
CA2501873
1066 R>H No ClinGen
ExAC
gnomAD
rs1444135968
CA353658981
1067 R>K No ClinGen
gnomAD
rs775701617
CA353659011
1069 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs368148211
CA2501877
1069 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775701617
CA2501875
1069 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs761934832
CA2501880
1073 R>I No ClinGen
ExAC
gnomAD
CA2501881
rs767683017
1074 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA353659064
rs1448173325
1074 V>I No ClinGen
TOPMed
rs1334777027
CA353659083
1075 D>E No ClinGen
TOPMed
CA2501883
rs188787709
1077 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs188787709
CA2501882
1077 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1559739177
CA353659112
1078 S>C No ClinGen
Ensembl
CA353659171
rs551870040
CA353659172
1082 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs374266455
CA2501885
1083 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353659183
rs1231650224
1084 Y>C No ClinGen
gnomAD
CA353659217
rs1163660999
1087 S>P No ClinGen
gnomAD
rs537742883
CA78491526
1088 V>L No ClinGen
1000Genomes
rs751238536
CA2501888
1090 R>S No ClinGen
ExAC
gnomAD
rs945848662
CA78491537
1091 L>V No ClinGen
TOPMed
gnomAD
rs1559739249
CA353659289
1092 R>G No ClinGen
Ensembl
rs1422228171
CA353659313
1094 G>S No ClinGen
gnomAD
rs1242520322
CA353659365
1098 T>I No ClinGen
TOPMed
CA2501891
rs745437741
1100 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA2501890
rs780559502
1100 Y>D No ClinGen
ExAC
gnomAD
CA2501892
rs191854832
1105 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780613391
CA2501893
1107 E>G No ClinGen
ExAC
gnomAD
CA78491609
rs943948765
1107 E>K No ClinGen
TOPMed
gnomAD
CA353659524
rs1222883855
1111 A>V No ClinGen
TOPMed
rs1311934615
CA353659562
1113 K>N No ClinGen
TOPMed
CA2501894
rs749574233
1113 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA2501895
rs769164750
1124 D>Y No ClinGen
ExAC
gnomAD
CA353659759
rs1265055449
1125 D>G No ClinGen
gnomAD
CA2501897
rs748349446
1127 S>G No ClinGen
ExAC
gnomAD
CA2501914
rs113885090
1127 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1185856747
CA353659902
1128 A>T No ClinGen
Ensembl
rs748582322
CA353659911
1129 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs748582322
CA2501915
1129 A>R No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q8IZM8

9 regional properties for Q8IZM8

Type Name Position InterPro Accession
domain PAS domain 184 - 305 IPR000014-1
domain PAS domain 464 - 580 IPR000014-2
domain PAS-associated, C-terminal 258 - 312 IPR000700-1
domain PAS-associated, C-terminal 536 - 590 IPR000700-2
domain Protein kinase domain 663 - 952 IPR000719
repeat PAC motif 261 - 303 IPR001610-1
repeat PAC motif 539 - 581 IPR001610-2
active_site Serine/threonine-protein kinase, active site 784 - 796 IPR008271
binding_site Protein kinase, ATP binding site 669 - 692 IPR017441

Functions

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

1 GO annotations of cellular component

Name Definition
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 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).
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding Binding to a metal ion.

1 GO annotations of biological process

Name Definition
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

177 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
P08151 GLI1 Zinc finger protein GLI1 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q9Y4E5 ZNF451 E3 SUMO-protein ligase ZNF451 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MAEEESDQEA ERLGEELVAI VESPLGPVGL RAAGDGRGGA GSGNCGGGVG ISSRDYCRRF
70 80 90 100 110 120
CQVVEDYAGR WQVPLPQLQV LQTALCCFTT ASASFPDECE HVQYVLSSLA VSFFELLLFF
130 140 150 160 170 180
GRDEFYEEPL KDILGSFQEC QNHLRRYGNV NLELVTRIIR DGGPWEDPVL QAVLKAQPAS
190 200 210 220 230 240
QEIVNKYLSS ENPLFFELRA RYLIACERIP EAMALIKSCI NHPEISKDLY FHQALFTCLF
250 260 270 280 290 300
MSPVEDQLFR EHLLKTDCKS GIDIICNAEK EGKTMLALQL CESFLIPQLQ NGDMYCIWEL
310 320 330 340 350 360
IFIWSKLQLK SNPSKQVFVD QCYQLLRTAT NVRVIFPFMK IIKDEVEEEG LQICVEICGC
370 380 390 400 410 420
ALQLDLHDDP KTKCLIYKTI AHFLPNDLEI LRICALSIFF LERSLEAYRT VEELYKRPDE
430 440 450 460 470 480
EYNEGTSSVQ NRVRFELLPI LKKGLFFDPE FWNFVMIKKN CVALLSDKSA VRFLNESTLE
490 500 510 520 530 540
NNAGNLKRTE EQQGLDEGFD SLTDQSTGET DPDDVSGVQP KGHINTKKNL TALSTSKVDH
550 560 570 580 590 600
NVPRHRCMLC NKEFLGGHIV RHAQAHQKKG SFACVICGRK FRNRGLMQKH LKNHVKKIQR
610 620 630 640 650 660
QQIAAAQQDD QEVTALEEIN CSSSSISFEN GNSDSKDLEV ETLTASSEGN KEVIPEHVAE
670 680 690 700 710 720
FIEIPISVPE DVIENVIENG SPNNSLNNVF KPLTECGDDY EEEEDEEGDY EEDDYDLNQE
730 740 750 760 770 780
TSVIHKINGT VCHPKDIYAT DQEGNFKCPA LGCVRIFKRI GFLNKHAMTV HPTDLNVRQT
790 800 810 820 830 840
VMKWSKGKCK FCQRQFEDSQ HFIDHLNRHS YPNVYFCLHF NCNESFKLPF QLAQHTKSHR
850 860 870 880 890 900
IFQAQCSFPE CHELFEDLPL LYEHEAQHYL SKTPESSAQP SETILWDVQT DSNPNQEKDS
910 920 930 940 950 960
SSNEKQTISL PVSTSKSRKE STEPKTCIES MEKKTDSLVQ NGNERSDDTV SNISLIDQKM
970 980 990 1000 1010 1020
PDIEPNSENN CSSSDIVNGH SEIEQTPLVS SDPALKIDTN RIRTENGSIL PSVVPQEHNT
1030 1040 1050 1060 1070 1080
LPVSQAPSKP NLTSEHTSYG LILTKPYVRP LPPSYLDERY LSMPKRRKFL TDRVDACSDQ
1090 1100 1110 1120
DNVYKKSVKR LRCGKCLTTY CNAEALEAHL AQKKCQTLFG FDSDDESA