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 O95625

Entry ID Method Resolution Chain Position Source
AF-O95625-F1 Predicted AlphaFoldDB

673 variants for O95625

Variant ID(s) Position Change Description Diseaes Association Provenance
CA2521327
RCV001328757
rs199936012
237 E>K Intellectual developmental disorder, autosomal recessive 69 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA353881094
RCV001328758
rs1436155983
267 L>F Intellectual developmental disorder, autosomal recessive 69 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001328756
rs760062265
CA2521204
448 S>R Intellectual developmental disorder, autosomal recessive 69 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA353874818
VAR_082098
rs1559982532
RCV000767226
729 H>Y Intellectual developmental disorder, autosomal recessive 69 MRT69; impaired localization to the nucleolus [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000767227
rs1559981249
CA353871839
VAR_080760
880 H>Q Intellectual developmental disorder, autosomal recessive 69 MRT69; impaired localization to the nucleolus [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs781687099
CA2521484
3 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA2521482
rs755383963
3 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs755383963
CA2521483
3 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs754378494
CA2521481
4 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA79785442
rs917735319
4 E>K No ClinGen
TOPMed
CA353885386
rs1448584423
6 S>G No ClinGen
TOPMed
CA353885381
rs1193547904
6 S>N No ClinGen
TOPMed
rs750002917
CA2521478
8 R>Q No ClinGen
ExAC
gnomAD
rs1422351195
CA353885350
8 R>W No ClinGen
gnomAD
rs1461632125
CA353885309
10 I>M No ClinGen
gnomAD
CA2521476
rs767249685
10 I>V No ClinGen
ExAC
gnomAD
rs753362197
CA2521475
11 L>* No ClinGen
ExAC
CA353885290
rs1194020987
11 L>P No ClinGen
gnomAD
rs1257276003
CA353885295
11 L>V No ClinGen
gnomAD
rs1576655797
CA353885266
13 Y>S No ClinGen
Ensembl
CA2521474
rs546775763
14 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353885216
rs763953059
16 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA353885214
rs1418000723
17 E>K No ClinGen
TOPMed
rs762722821
CA2521471
18 R>G No ClinGen
ExAC
gnomAD
rs762722821
CA353885194
18 R>S No ClinGen
ExAC
gnomAD
CA353885176
rs1376632480
19 E>K No ClinGen
gnomAD
CA353885178
rs1376632480
19 E>Q No ClinGen
gnomAD
rs760710822
CA353885141
21 Y>C No ClinGen
ExAC
gnomAD
rs760710822
CA2521468
21 Y>F No ClinGen
ExAC
gnomAD
CA353885074
rs1162776725
26 E>K No ClinGen
gnomAD
CA2521465
rs748417453
27 G>D No ClinGen
ExAC
gnomAD
CA2521466
rs772236063
27 G>S No ClinGen
ExAC
gnomAD
rs1458527793
CA353885032
28 N>S No ClinGen
TOPMed
gnomAD
rs1444955774
CA353885000
30 K>N No ClinGen
gnomAD
rs1164460280
CA353885005
30 K>R No ClinGen
gnomAD
rs774517453
CA2521464
31 R>C No ClinGen
ExAC
gnomAD
CA353884961
rs1439534251
33 I>M No ClinGen
gnomAD
CA2521463
rs769063858
33 I>N No ClinGen
ExAC
gnomAD
CA353884959
rs892789280
34 R>* No ClinGen
Ensembl
rs1402821823
CA353884956
34 R>L No ClinGen
TOPMed
CA2521462
rs148988148
36 A>T No ClinGen
ESP
ExAC
gnomAD
rs756727320
CA2521460
38 A>T No ClinGen
ExAC
gnomAD
rs1359127946
CA353884931
39 C>S No ClinGen
TOPMed
rs780861609
CA2521458
40 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs963773841
CA79785367
43 R>L No ClinGen
TOPMed
VAR_021894
rs3749323
CA2521457
44 G>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs751220389
CA2521456
46 T>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 47 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1286684955
CA353884857
50 Q>L No ClinGen
TOPMed
CA353884834
rs1364270379
54 R>Q No ClinGen
gnomAD
CA2521450
rs767592324
56 R>H No ClinGen
ExAC
gnomAD
rs767592324
CA2521449
56 R>L No ClinGen
ExAC
gnomAD
rs1212997361
CA353884815
57 K>R No ClinGen
TOPMed
rs1258120365
CA353884808
58 T>I No ClinGen
TOPMed
CA2521447
rs774623364
60 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353884790
rs1351858891
61 E>* No ClinGen
gnomAD
CA353884792
rs1351858891
61 E>K No ClinGen
gnomAD
rs61735374
CA353884758
66 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1343606818
CA353884730
70 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs770377472
CA2521443
72 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs376773040
CA2521441
73 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2521442
rs746380859
73 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs542541417
CA2521439
74 L>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777446929
CA2521438
76 E>K No ClinGen
ExAC
gnomAD
CA2521437
rs758014364
77 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA353884671
rs1477220157
80 L>Q No ClinGen
TOPMed
gnomAD
CA353884669
rs1477220157
80 L>R No ClinGen
TOPMed
gnomAD
rs1293657545
CA353884668
81 G>S No ClinGen
gnomAD
rs1447929732
CA353884658
82 P>R No ClinGen
gnomAD
CA353884662
rs1217517246
82 P>T No ClinGen
TOPMed
gnomAD
CA353884655
rs867803612
83 G>R No ClinGen
TOPMed
CA79785314
rs867803612
83 G>S No ClinGen
TOPMed
CA353884651
rs1202301013
84 G>S No ClinGen
gnomAD
CA353884640
rs1381911135
85 T>I No ClinGen
TOPMed
gnomAD
rs1381911135
CA353884641
85 T>S No ClinGen
TOPMed
gnomAD
CA353884633
rs1326342074
86 H>Q No ClinGen
TOPMed
gnomAD
CA353884623
rs1576655599
88 T>P No ClinGen
Ensembl
rs1559990420
CA353884616
89 R>W No ClinGen
Ensembl
rs754844867
CA2521434
90 H>R No ClinGen
ExAC
gnomAD
rs1359961814
CA353884592
92 T>I No ClinGen
gnomAD
CA353884576
rs1482661124
94 H>Q No ClinGen
TOPMed
CA353884581
rs1431822876
94 H>Y No ClinGen
gnomAD
rs753774253
CA2521433
95 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1468144087
CA353884566
96 L>V No ClinGen
gnomAD
rs774336545
CA2521430
98 K>R No ClinGen
ExAC
gnomAD
CA2521428
rs763108185
100 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs1187903201
CA353884527
101 W>* No ClinGen
gnomAD
TCGA novel 106 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353883795
rs1393386090
110 K>E No ClinGen
gnomAD
CA353883770
rs1243386006
113 I>V No ClinGen
TOPMed
rs759947683
CA2521407
115 Q>K No ClinGen
ExAC
gnomAD
rs777163011
CA2521406
115 Q>R No ClinGen
ExAC
gnomAD
CA79782941
rs1046133920
116 C>F No ClinGen
Ensembl
TCGA novel 119 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2521405
rs142875469
120 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2521404
rs761096351
121 E>* No ClinGen
ExAC
rs772708885
CA2521403
122 K>N No ClinGen
ExAC
gnomAD
rs1315521476
CA353883695
123 L>V No ClinGen
gnomAD
CA353883675
rs1223126543
125 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA353883669
rs1371030170
126 S>Y No ClinGen
TOPMed
gnomAD
rs771482101
CA2521402
127 R>C No ClinGen
ExAC
gnomAD
CA2521401
rs747718261
127 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747718261
CA353883663
127 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs143922743
COSM107509
CA79782922
128 P>S skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs768338893
CA2521399
129 I>V No ClinGen
ExAC
gnomAD
rs763759795
CA2521398
130 S>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 132 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1190601166
CA353883624
134 E>G No ClinGen
gnomAD
rs756023511
CA2521396
134 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA353883611
rs1475749536
135 M>I No ClinGen
gnomAD
CA2521394
rs781247433
142 D>E No ClinGen
ExAC
gnomAD
rs750320916
CA2521395
142 D>N No ClinGen
ExAC
gnomAD
CA2521393
rs758529461
145 S>C No ClinGen
ExAC
gnomAD
CA353883495
rs1158117921
148 E>V No ClinGen
TOPMed
CA2521392
rs752864893
149 S>R No ClinGen
ExAC
gnomAD
CA2521391
rs765511899
152 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 152 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353883435
rs1490589700
153 E>Q No ClinGen
gnomAD
rs368853622
CA2521389
154 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs540971906
CA2521388
155 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1314916499
CA353883411
155 D>G No ClinGen
gnomAD
CA353883378
rs1576653075
158 N>D No ClinGen
Ensembl
rs1280857721
CA353883369
158 N>K No ClinGen
gnomAD
rs1038991560
CA79782850
159 F>Y No ClinGen
TOPMed
gnomAD
rs1365756670
CA353883348
160 T>I No ClinGen
gnomAD
CA79782831
rs1050046016
162 S>C No ClinGen
TOPMed
CA79782827
rs932829348
163 P>R No ClinGen
Ensembl
rs1453511824
CA353883334
163 P>S No ClinGen
gnomAD
CA2521385
rs768123317
164 T>A No ClinGen
ExAC
gnomAD
CA353883325
rs1222786402
165 T>A No ClinGen
TOPMed
rs1327512051
CA353883320
166 A>T No ClinGen
TOPMed
CA2521383
rs1160468172
167 S>P No ClinGen
gnomAD
rs773882184
CA2521381
169 P>R No ClinGen
ExAC
gnomAD
CA2521379
rs370452006
175 V>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 176 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769460910
CA2521377
177 K>R No ClinGen
ExAC
TCGA novel 182 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368388126
CA79782441
188 V>M No ClinGen
ESP
TOPMed
gnomAD
rs370728651
CA2521347
191 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA79782434
rs757220454
191 R>H No ClinGen
Ensembl
CA2521346
rs750705414
192 S>F No ClinGen
ExAC
gnomAD
CA353882841
rs1397313747
192 S>T No ClinGen
gnomAD
CA2521345
rs767883194
193 S>F No ClinGen
ExAC
gnomAD
CA2521343
rs757696454
194 P>L No ClinGen
ExAC
gnomAD
CA2521341
rs764632046
201 L>I No ClinGen
ExAC
gnomAD
rs528838166
CA79782422
203 Q>H No ClinGen
gnomAD
CA2521340
rs762337068
203 Q>K No ClinGen
ExAC
gnomAD
rs752283318
CA2521339
203 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 204 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759236173
CA2521337
206 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs770843332
CA2521335
210 S>C No ClinGen
ExAC
gnomAD
CA2521334
rs760603376
212 Q>H No ClinGen
ExAC
gnomAD
rs1350414003
CA353882708
212 Q>L No ClinGen
TOPMed
gnomAD
CA353882707
rs1350414003
212 Q>R No ClinGen
TOPMed
gnomAD
rs772178055
CA2521332
COSM1035820
217 T>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA353882665
rs1576652709
218 L>V No ClinGen
Ensembl
rs1303990586
CA353882597
223 E>A No ClinGen
gnomAD
CA353882599
rs1367642489
223 E>K No ClinGen
gnomAD
rs1559988353
CA353882509
229 K>T No ClinGen
Ensembl
rs1384049000
CA353882497
230 S>C No ClinGen
gnomAD
rs936776048
CA79782373
232 L>S No ClinGen
Ensembl
rs753745382
CA353882465
233 S>* No ClinGen
TOPMed
CA79782370
rs753745382
233 S>L No ClinGen
TOPMed
rs374949213
CA79782365
235 N>T No ClinGen
ESP
TOPMed
gnomAD
rs199936012
CA79782363
237 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 239 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353882380
rs1222509693
240 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs757594133
CA2521326
240 R>Q No ClinGen
ExAC
gnomAD
rs1446768176
CA353882288
247 G>A No ClinGen
gnomAD
CA2521324
rs778209173
250 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA2521323
rs758963567
250 S>C No ClinGen
ExAC
gnomAD
rs778209173
CA353882262
250 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA2521325
rs778209173
250 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs764807200
CA2521321
251 S>N No ClinGen
ExAC
gnomAD
CA353882246
rs1221696343
251 S>R No ClinGen
gnomAD
rs77835742
CA79782348
252 H>P No ClinGen
Ensembl
CA2521319
rs184261519
254 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766185003
CA2521317
258 L>F No ClinGen
ExAC
gnomAD
CA2521296
rs755854679
260 G>D No ClinGen
ExAC
gnomAD
CA353881172
rs1182253527
261 F>V No ClinGen
gnomAD
rs750189056
CA2521295
262 C>Y No ClinGen
ExAC
gnomAD
rs1238581914
CA353881117
265 S>I No ClinGen
gnomAD
rs373443495
CA2521293
274 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353881019
rs1559986381
274 Y>N No ClinGen
Ensembl
CA79779189
rs913702014
275 T>I No ClinGen
Ensembl
rs1225601578
CA353880944
280 F>L No ClinGen
TOPMed
rs144059662
CA2521291
281 D>N No ClinGen
ESP
ExAC
TOPMed
CA353880891
rs1440763213
284 S>R No ClinGen
gnomAD
CA2521288
rs771079304
288 V>A No ClinGen
ExAC
gnomAD
rs150913648
CA2521289
288 V>I No ClinGen
ESP
ExAC
gnomAD
CA353880822
rs1365317937
290 I>L No ClinGen
TOPMed
gnomAD
CA353880820
rs1365317937
290 I>V No ClinGen
TOPMed
gnomAD
rs1275099802
CA353880799
292 A>T No ClinGen
TOPMed
rs1162006530
CA353880784
293 R>C No ClinGen
TOPMed
gnomAD
rs1162006530
CA353880786
293 R>G No ClinGen
TOPMed
gnomAD
rs969100486
CA79779157
293 R>H No ClinGen
TOPMed
gnomAD
rs747236001
CA2521287
297 M>T No ClinGen
ExAC
gnomAD
CA353880734
rs1266191489
297 M>V No ClinGen
TOPMed
CA2521286
rs148362812
299 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1576649797
CA353880628
304 C>Y No ClinGen
Ensembl
rs370932785
CA2521283
307 V>A No ClinGen
ESP
ExAC
gnomAD
CA2521284
rs140292552
307 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1490260938
CA353880564
309 K>T No ClinGen
gnomAD
rs867425144
CA79779145
313 E>K No ClinGen
Ensembl
rs753170907
CA79779111
316 L>Q No ClinGen
Ensembl
rs1313334854
CA353880497
317 T>A No ClinGen
gnomAD
CA2521281
rs748759926
318 V>A No ClinGen
ExAC
gnomAD
rs199909729
CA2521276
323 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA353880420
rs1350889647
328 A>G No ClinGen
gnomAD
TCGA novel 328 A>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2521275
rs751339784
328 A>T No ClinGen
ExAC
gnomAD
rs1030164138
CA79779042
329 S>C No ClinGen
TOPMed
rs764041039
CA2521274
329 S>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 332 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752170906
CA2521271
334 R>* No ClinGen
ExAC
gnomAD
rs752170906
CA2521272
334 R>G No ClinGen
ExAC
gnomAD
CA2521270
rs201435600
334 R>Q Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773460318
CA2521269
336 Q>* No ClinGen
ExAC
gnomAD
CA353880368
rs1559986234
336 Q>P No ClinGen
Ensembl
CA2521268
rs374561422
337 N>D No ClinGen
ESP
ExAC
gnomAD
CA2521267
rs144615208
338 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145077673
CA2521266
339 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2521265
rs145077673
339 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1024649467
CA79778977
340 T>A No ClinGen
TOPMed
gnomAD
rs749817158
CA2521264
341 A>T No ClinGen
ExAC
gnomAD
rs1221686723
CA353880299
342 P>A No ClinGen
TOPMed
rs1014481445
CA79778959
343 P>S No ClinGen
gnomAD
CA79778952
rs374701299
344 V>A No ClinGen
ESP
CA2521263
rs140297001
344 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755674740
CA2521262
346 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA2521261
rs745421992
349 G>E No ClinGen
ExAC
gnomAD
rs1559986204
CA353880212
349 G>R No ClinGen
Ensembl
rs33957144
VAR_047465
CA2521260
350 T>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2521258
rs751306577
352 T>A No ClinGen
ExAC
gnomAD
CA2521257
rs139913060
353 S>N No ClinGen
ESP
ExAC
TOPMed
CA353880153
rs1429087362
354 L>* No ClinGen
gnomAD
CA353880108
rs1391419812
358 L>I No ClinGen
gnomAD
CA353880100
rs1559986170
358 L>P No ClinGen
Ensembl
rs1160556914
CA353880093
359 G>R No ClinGen
gnomAD
rs752617069
CA2521254
360 D>V No ClinGen
ExAC
gnomAD
rs144837624
CA2521253
363 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353880032
rs1178466779
364 V>I No ClinGen
gnomAD
CA2521250
rs767730734
366 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs369879296
CA2521249
368 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353879974
rs1209338876
370 E>D No ClinGen
gnomAD
CA79778910
rs888650554
370 E>K No ClinGen
Ensembl
rs769142377
CA2521247
372 P>S No ClinGen
ExAC
gnomAD
CA2521246
rs763473272
376 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs776121266
CA2521245
377 N>S No ClinGen
ExAC
gnomAD
CA2521244
rs770467197
378 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs137917462
CA353879913
379 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353879915
rs1380775107
379 E>V No ClinGen
TOPMed
rs1367870797
CA353879908
380 V>A No ClinGen
gnomAD
rs1161029536
CA353879912
380 V>I No ClinGen
gnomAD
CA2521242
rs376632562
381 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353879900
rs1452602541
382 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs9811237
CA2521241
382 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2521240
rs746633793
384 P>L No ClinGen
ExAC
gnomAD
CA353879887
rs746633793
384 P>R No ClinGen
ExAC
gnomAD
rs924822504
CA79778842
384 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA353879885
rs1372657343
385 E>K No ClinGen
gnomAD
rs1244948551
CA353879876
386 P>A No ClinGen
TOPMed
CA2521238
rs758166647
387 Q>L No ClinGen
ExAC
gnomAD
rs1406965845
CA353879858
389 S>P No ClinGen
TOPMed
gnomAD
CA353879838
rs1391853243
392 A>T No ClinGen
gnomAD
CA2521236
rs138572454
393 E>G No ClinGen
ESP
ExAC
gnomAD
CA353879821
rs754931685
394 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA2521235
rs754931685
394 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA353879811
rs1576649555
396 L>R No ClinGen
Ensembl
CA2521233
rs201477662
398 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353879803
rs1250353291
398 S>T No ClinGen
gnomAD
rs751720542
CA2521231
400 G>E No ClinGen
ExAC
gnomAD
CA353879783
rs1426039093
401 C>S No ClinGen
TOPMed
rs112061469
CA2521229
402 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs183879149
CA2521230
402 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353879759
rs1395932318
405 S>T No ClinGen
gnomAD
rs1451649701
CA353879727
409 M>I No ClinGen
TOPMed
rs777257846
CA2521225
409 M>V No ClinGen
ExAC
gnomAD
TCGA novel 411 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1443811149
CA353879710
412 V>I No ClinGen
TOPMed
gnomAD
rs770333532
CA2521224
413 D>G No ClinGen
ExAC
gnomAD
CA353879685
rs1559986023
415 I>M No ClinGen
Ensembl
CA79778750
rs954702892
415 I>V No ClinGen
TOPMed
rs746577892
CA2521223
416 T>A No ClinGen
ExAC
gnomAD
CA2521222
rs199877551
416 T>R No ClinGen
1000Genomes
ExAC
CA353879668
rs1423887034
418 N>S No ClinGen
gnomAD
TCGA novel 418 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1423887034
CA353879669
418 N>T No ClinGen
gnomAD
rs1451723975
CA353879643
421 T>I No ClinGen
TOPMed
CA353879644
rs1451723975
421 T>R No ClinGen
TOPMed
TCGA novel 424 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145548035
CA2521218
427 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353879601
rs1314613696
428 N>D No ClinGen
TOPMed
CA2521216
rs142202784
428 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142202784
CA353879599
428 N>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353879572
rs1246252107
432 N>D No ClinGen
gnomAD
CA79778709
rs926497302
433 T>I No ClinGen
gnomAD
CA2521214
rs368253556
434 V>I No ClinGen
ESP
ExAC
gnomAD
CA79778689
rs368253556
434 V>L No ClinGen
ESP
ExAC
gnomAD
rs1006362557
CA79778684
435 S>P No ClinGen
TOPMed
gnomAD
rs1282588197
CA353879549
436 N>D No ClinGen
TOPMed
gnomAD
rs1248848572
CA353879538
437 I>T No ClinGen
TOPMed
gnomAD
rs1388378961
CA353879533
438 H>Y No ClinGen
TOPMed
gnomAD
CA2521210
rs758704229
439 P>R No ClinGen
ExAC
gnomAD
CA2521209
rs753040977
440 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA353879513
rs1179343041
441 L>F No ClinGen
gnomAD
rs765688470
CA353879508
442 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs1252019087
CA353879505
442 S>L No ClinGen
gnomAD
CA2521208
rs765688470
442 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA353879509
rs765688470
442 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs904978539
CA79778625
444 E>D No ClinGen
TOPMed
rs1413042350
CA353879493
444 E>G No ClinGen
TOPMed
CA2521207
rs759999999
444 E>K No ClinGen
ExAC
gnomAD
CA79778619
rs980890503
445 N>H No ClinGen
gnomAD
CA2521203
rs772729677
448 S>N No ClinGen
ExAC
gnomAD
rs151249814
CA2521202
449 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA79778599
rs759062343
449 S>T No ClinGen
Ensembl
rs774057270
CA2521200
450 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs961729161
CA79778580
453 D>G No ClinGen
gnomAD
rs749160320
CA2521198
453 D>Y No ClinGen
ExAC
gnomAD
rs1387168581
CA353879432
454 S>G No ClinGen
gnomAD
rs1288392853
CA353879429
454 S>N No ClinGen
TOPMed
TCGA novel 455 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2521196
rs756111784
456 M>I No ClinGen
ExAC
gnomAD
rs779829750
CA2521197
456 M>T No ClinGen
ExAC
gnomAD
TCGA novel 458 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2521195
rs200975356
459 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs758614153
CA2521193
460 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1251300811
CA353879368
463 E>A No ClinGen
TOPMed
rs765543633
CA2521191
465 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1344430104
CA353879348
466 C>F No ClinGen
TOPMed
gnomAD
CA2521189
rs377108340
468 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2521187
rs761259318
470 I>T No ClinGen
ExAC
gnomAD
rs766745053
CA2521188
470 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs111517036
CA79778535
472 K>E No ClinGen
Ensembl
rs1217570210
CA353879300
473 H>R No ClinGen
gnomAD
rs1385739919
CA353879296
474 R>G No ClinGen
gnomAD
CA2521186
rs772643936
475 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1169456379
CA353879286
475 Q>R No ClinGen
TOPMed
CA353879247
rs761371233
480 P>H No ClinGen
ExAC
gnomAD
CA2521184
rs761371233
480 P>L No ClinGen
ExAC
gnomAD
CA353879243
rs1364269709
481 L>S No ClinGen
TOPMed
gnomAD
CA353879236
rs1308508192
482 K>T No ClinGen
TOPMed
rs368059829
CA79778514
483 D>V No ClinGen
Ensembl
CA2521183
rs368138724
483 D>Y No ClinGen
ESP
ExAC
gnomAD
CA353879225
rs182361740
484 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2521182
rs182361740
484 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762618398
CA2521181
484 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 485 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775380408
CA2521180
485 E>K No ClinGen
ExAC
gnomAD
rs1412286866
CA353879211
486 N>D No ClinGen
gnomAD
rs769549072
CA2521179
488 V>A No ClinGen
ExAC
gnomAD
CA2521178
rs745793458
489 A>S No ClinGen
ExAC
gnomAD
CA353879176
rs1388776858
492 A>P No ClinGen
gnomAD
CA353879177
rs1388776858
492 A>S No ClinGen
gnomAD
CA353879172
rs1191034573
492 A>V No ClinGen
gnomAD
rs781332050
CA2521177
494 T>I No ClinGen
ExAC
gnomAD
CA353879153
rs1559985773
495 D>V No ClinGen
Ensembl
CA2521174
rs374818953
496 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745684352
CA79778472
497 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA353879139
rs745684352
497 G>V No ClinGen
TOPMed
gnomAD
rs370264120
CA2521171
498 P>A No ClinGen
ESP
TOPMed
rs370264120
CA2521172
498 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
CA79778464
rs923283047
499 D>G No ClinGen
TOPMed
gnomAD
rs1485321037
CA353879123
500 D>G No ClinGen
TOPMed
gnomAD
CA353879106
rs1240745160
502 T>S No ClinGen
gnomAD
TCGA novel 504 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353879087
rs1230362931
505 S>N No ClinGen
TOPMed
gnomAD
rs1230362931
CA353879086
505 S>T No ClinGen
TOPMed
gnomAD
TCGA novel 506 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA79778459
rs892482586
507 L>R No ClinGen
TOPMed
TCGA novel 508 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs367718842
CA79778433
508 R>P No ClinGen
ESP
TOPMed
gnomAD
rs367718842
CA79778447
508 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA2521166
COSM1471480
rs750917032
510 R>C prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
CA79778395
COSM1035815
rs139728463
510 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2521164
rs139728463
510 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA79778393
rs926415699
511 S>F No ClinGen
TOPMed
CA2521163
rs761285289
511 S>P No ClinGen
ExAC
gnomAD
rs1309408952
CA353879052
512 V>I No ClinGen
TOPMed
gnomAD
rs763608086
CA2521161
516 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs763608086
CA353879024
516 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA2521160
rs201663165
517 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA79778382
rs969634250
517 Y>H No ClinGen
TOPMed
CA353879005
rs1360071778
COSM727536
519 R>* lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs775069455
CA353879004
519 R>P No ClinGen
ExAC
gnomAD
rs775069455
CA2521159
519 R>Q No ClinGen
ExAC
gnomAD
CA2521158
rs769613644
520 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA2521157
rs759450105
521 H>R No ClinGen
ExAC
gnomAD
CA2521156
rs776678081
522 K>E No ClinGen
ExAC
gnomAD
rs1181330273
CA353878981
523 G>E No ClinGen
gnomAD
rs1559985672
CA353878984
523 G>R No ClinGen
Ensembl
CA353878977
rs1359317751
524 M>V No ClinGen
TOPMed
rs1243916636
CA353878949
527 K>R No ClinGen
TOPMed
TCGA novel 527 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1482167704
CA353878940
529 Q>K No ClinGen
gnomAD
rs575254977
CA2521154
531 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353878923
rs1206941861
531 R>W No ClinGen
TOPMed
gnomAD
rs1215346710
CA353878913
532 K>N No ClinGen
TOPMed
TCGA novel 533 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2521153
rs770642516
534 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs536101471
CA79778302
540 Q>K No ClinGen
Ensembl
rs1228499576
CA353878766
547 V>A No ClinGen
gnomAD
CA2521127
rs778190992
549 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1221235371
CA353878719
551 K>E No ClinGen
gnomAD
rs757892018
CA2521126
552 K>E No ClinGen
ExAC
gnomAD
rs1433575130
CA353878705
552 K>R No ClinGen
gnomAD
rs1321245347
CA353878695
553 M>V No ClinGen
TOPMed
gnomAD
rs1465612358
CA353878682
554 K>Q No ClinGen
gnomAD
CA353878644
rs1490633050
557 K>E No ClinGen
gnomAD
rs764932718
CA2521124
558 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1030617052
CA79778047
559 D>Y No ClinGen
TOPMed
CA353878603
rs1434684016
560 A>G No ClinGen
gnomAD
CA353878589
rs1426755180
562 E>K No ClinGen
TOPMed
rs141320785
CA79778042
563 N>K No ClinGen
ESP
rs1268623409
CA353878570
563 N>T No ClinGen
TOPMed
gnomAD
CA353878544
rs1174644743
565 E>V No ClinGen
TOPMed
rs949185973
CA79778032
566 E>A No ClinGen
TOPMed
gnomAD
rs753620624
CA2521122
566 E>D No ClinGen
ExAC
gnomAD
rs202019961
CA79778035
566 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
rs917768330
CA79778021
567 A>T No ClinGen
Ensembl
rs1372488154
CA353878519
567 A>V No ClinGen
TOPMed
CA353878498
rs1251987599
569 H>L No ClinGen
gnomAD
rs760446487
CA2521119
570 K>Q No ClinGen
ExAC
gnomAD
rs773181700
CA2521118
570 K>T No ClinGen
ExAC
gnomAD
rs767395986
CA2521117
571 C>R No ClinGen
ExAC
gnomAD
CA2521116
rs763051838
571 C>Y No ClinGen
ExAC
gnomAD
CA353878460
rs1302833171
572 G>E No ClinGen
TOPMed
CA2521114
rs769950303
576 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA2521112
rs776892471
577 V>A No ClinGen
ExAC
gnomAD
rs746099205
CA2521113
577 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA353878356
rs1299011594
581 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353878327
rs76876070
583 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs76876070
CA2521110
COSM273480
583 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2521108
rs758850242
585 I>K No ClinGen
ExAC
gnomAD
CA2521109
rs778299982
585 I>V No ClinGen
ExAC
gnomAD
rs747634438
CA2521107
587 H>D No ClinGen
ExAC
gnomAD
rs754600619
CA2521105
589 L>R No ClinGen
ExAC
gnomAD
CA79777956
rs1021855487
591 H>N No ClinGen
TOPMed
rs753528719
CA2521104
591 H>R No ClinGen
ExAC
CA353878198
rs1391871513
592 E>A No ClinGen
gnomAD
CA353878202
rs1391871513
592 E>G No ClinGen
gnomAD
CA2521103
rs766184539
595 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA2521102
rs755908915
596 D>G No ClinGen
ExAC
gnomAD
rs1559985387
CA353878152
597 Y>N No ClinGen
Ensembl
CA2521101
rs570556033
598 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 598 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 604 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 608 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 609 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 610 A>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779447195 629 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs751383483 638 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 639 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756273650 649 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs957652882 653 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 659 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 660 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1447529156 667 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 677 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs968385833
CA79771022
683 V>L No ClinGen
Ensembl
CA353875215
rs1289064272
684 C>F No ClinGen
gnomAD
rs778677502
CA2521025
685 G>R No ClinGen
ExAC
gnomAD
CA2521024
rs144559723
686 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
CA353875197
rs1336384471
687 T>S No ClinGen
TOPMed
gnomAD
TCGA novel 688 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA79771003
rs975611357
689 I>T No ClinGen
TOPMed
gnomAD
CA2521023
rs745880279
689 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs757482010
CA2521022
690 Y>C No ClinGen
ExAC
gnomAD
CA2521021
rs757482010
690 Y>S No ClinGen
ExAC
gnomAD
CA2521020
rs751822865
691 K>N No ClinGen
ExAC
CA79770977
rs915471456
692 H>R No ClinGen
TOPMed
CA353875160
rs778194324
693 G>C No ClinGen
ExAC
gnomAD
rs778194324
CA2521019
693 G>R No ClinGen
ExAC
gnomAD
CA2521017
rs753125423
698 Q>E No ClinGen
ExAC
gnomAD
rs765603065
CA2521016
698 Q>H No ClinGen
ExAC
gnomAD
CA2521014
rs754368653
699 S>G No ClinGen
ExAC
gnomAD
CA2521013
rs146368493
699 S>N No ClinGen
ESP
ExAC
gnomAD
CA2521015
rs754368653
699 S>R No ClinGen
ExAC
gnomAD
rs1576644669
CA353875112
700 L>R No ClinGen
Ensembl
rs1413615293
CA353875106
701 H>Q No ClinGen
TOPMed
CA2521012
rs374267059
701 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144024292
CA2521010
704 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144024292
CA2521009
704 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1374508073
CA353875068
707 F>I No ClinGen
gnomAD
rs1480843496
CA353875053
708 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 713 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1395551656
CA353875001
715 S>L No ClinGen
TOPMed
rs749247440
CA2521006
716 F>L No ClinGen
ExAC
gnomAD
rs1456913551
CA353874974
717 V>A No ClinGen
TOPMed
CA79770923
rs959532193
717 V>I No ClinGen
gnomAD
CA353874941
rs1308717355
720 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs370625030
CA2521004
720 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149242210
CA2521002
726 M>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353874862
rs149242210
726 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1443812954
CA353874845
727 S>N No ClinGen
TOPMed
gnomAD
rs758655872
CA353874805
730 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs758655872
CA2521001
730 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA353874179
rs1465688694
733 S>F No ClinGen
gnomAD
CA353874155
rs772107810
734 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs748386719
CA2520982
738 S>A No ClinGen
ExAC
gnomAD
rs1395595879
CA353874053
739 V>L No ClinGen
gnomAD
rs1029258933
CA79770257
740 C>F No ClinGen
Ensembl
CA79770249
rs997659283
742 K>E No ClinGen
Ensembl
CA2520980
rs558532317
742 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201953934
CA2520979
745 H>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1482703413
CA353873902
747 G>A No ClinGen
TOPMed
gnomAD
CA353873918
rs1186622448
747 G>S No ClinGen
gnomAD
rs1213396655
CA353873885
748 S>C No ClinGen
gnomAD
CA353873897
rs1194773911
748 S>P No ClinGen
TOPMed
rs749870942
CA2520976
750 L>F No ClinGen
ExAC
gnomAD
CA353873826
rs1309805788
753 H>Y No ClinGen
gnomAD
TCGA novel 755 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2520975
rs767051867
755 K>R No ClinGen
ExAC
gnomAD
CA79770226
rs1041787730
757 H>Y No ClinGen
Ensembl
CA2520973
rs751206105
760 K>N No ClinGen
ExAC
gnomAD
rs140325275
CA79770221
762 E>D No ClinGen
ESP
TOPMed
rs1164315183
CA353873647
762 E>V No ClinGen
gnomAD
CA79770217
rs946108111
763 V>A No ClinGen
TOPMed
CA2520972
rs763698199
COSM1035806
764 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA2520971
rs762773411
764 R>Q No ClinGen
ExAC
gnomAD
rs893251493
CA79770205
766 Y>C No ClinGen
gnomAD
CA353873574
rs1460362773
767 H>R No ClinGen
TOPMed
gnomAD
rs1419513954
CA353873592
767 H>Y No ClinGen
TOPMed
CA2520970
rs775434517
768 C>R No ClinGen
ExAC
gnomAD
CA79770200
rs143311938
769 T>I No ClinGen
ESP
CA2520969
rs554721459
770 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
rs759538380
CA2520968
770 Q>R No ClinGen
ExAC
gnomAD
CA79769246
rs940146789
774 S>G No ClinGen
Ensembl
TCGA novel 774 S>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763739830
CA2520953
774 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA353873247
rs763739830
774 S>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 774 S>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2520952
rs758124325
775 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 781 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140725691
CA2520950
782 R>C No ClinGen
ESP
ExAC
gnomAD
rs759446277
CA353873106
782 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs759446277
CA2520949
782 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA2520947
rs766249910
785 M>T No ClinGen
ExAC
gnomAD
CA2520948
rs776610642
785 M>V No ClinGen
ExAC
gnomAD
CA353872997
rs1327251688
786 N>K No ClinGen
gnomAD
rs761913276
CA2520946
788 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA2520945
rs774299734
792 K>N No ClinGen
ExAC
gnomAD
rs1387435334
CA353872876
792 K>R No ClinGen
gnomAD
rs1303821157
CA353872457
795 Q>H No ClinGen
TOPMed
rs1455640957
CA353872419
800 D>G No ClinGen
gnomAD
rs768865218
CA2520944
803 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs931412101
CA79769217
806 K>Q No ClinGen
TOPMed
rs1198619918
CA353872356
808 D>G No ClinGen
gnomAD
rs1453070735
CA353872341
810 Y>D No ClinGen
gnomAD
CA79769213
rs921373274
813 V>M No ClinGen
Ensembl
CA79769201
rs975398989
814 K>R No ClinGen
gnomAD
rs1464550094
CA353872307
815 S>A No ClinGen
gnomAD
rs560838924
CA2520918
826 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA353872213
rs1576642934
827 C>R No ClinGen
Ensembl
CA2520917
rs776878218
829 K>R No ClinGen
ExAC
gnomAD
rs1418030729
CA353872160
834 K>E No ClinGen
gnomAD
TCGA novel 837 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2520916
rs771388774
838 R>G No ClinGen
ExAC
gnomAD
CA353872120
rs747469923
839 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA2520914
rs778387759
840 H>R No ClinGen
ExAC
gnomAD
rs1559981329
CA353872117
840 H>Y No ClinGen
Ensembl
CA2520912
rs369485048
842 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778670346
CA2520911
847 G>E No ClinGen
ExAC
gnomAD
CA2520909
rs779699235
848 K>N No ClinGen
ExAC
gnomAD
rs754682198
CA2520910
848 K>R No ClinGen
ExAC
gnomAD
CA2520907
rs756002916
852 A>V No ClinGen
ExAC
gnomAD
CA2520905
rs759283966
858 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs533679176
CA2520906
858 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762967746
CA2520904
859 V>L No ClinGen
ExAC
gnomAD
rs1475883771
CA353871979
861 E>K No ClinGen
TOPMed
gnomAD
CA79769058
rs372045250
862 K>Q No ClinGen
ESP
TOPMed
gnomAD
CA2520902
rs765372687
863 C>R No ClinGen
ExAC
gnomAD
CA353871964
rs1184779308
863 C>Y No ClinGen
TOPMed
CA353871942
rs1331540678
866 K>R No ClinGen
gnomAD
rs759668075
CA2520901
867 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA79769020
rs967448061
868 T>I No ClinGen
TOPMed
rs771171772
CA2520899
871 R>* No ClinGen
ExAC
gnomAD
rs375848343
CA79769008
872 E>Q No ClinGen
ESP
TOPMed
TCGA novel 873 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs150743951
CA2520896
874 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 876 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 877 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1206590541
CA353871842
880 H>R No ClinGen
gnomAD
rs1231103958
CA353871844
880 H>Y No ClinGen
gnomAD
CA79768519
rs866179118
882 G>V No ClinGen
Ensembl
TCGA novel 885 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353871742
rs1446587067
888 C>S No ClinGen
TOPMed
CA2520861
rs769515266
892 G>R No ClinGen
ExAC
gnomAD
rs745591665
CA2520860
893 V>G No ClinGen
ExAC
gnomAD
rs1553777368
CA353871652
895 W>S No ClinGen
Ensembl
rs1267379043
CA353871635
896 A>D No ClinGen
gnomAD
rs1185458465
CA353871610
899 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA353871609
rs1168884490
899 R>Q No ClinGen
gnomAD
TCGA novel 902 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2520857
rs746921715
903 R>C No ClinGen
ExAC
gnomAD
rs1243500041
CA353871564
COSM1035805
903 R>H endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1278779161
CA353871420
912 R>W No ClinGen
gnomAD
rs750732654
CA2520851
921 E>K No ClinGen
ExAC
gnomAD
rs1400347885
CA353871338
923 Y>C No ClinGen
gnomAD
CA353871329
rs1386576005
924 I>V No ClinGen
Ensembl
rs767988210
COSM117983
CA2520850
927 R>* ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA79768471
rs907594503
930 R>C No ClinGen
TOPMed
CA79768469
rs553143290
930 R>H No ClinGen
1000Genomes
rs1436460382
CA353871259
931 K>E No ClinGen
gnomAD
rs566156079
CA79768464
932 H>Y No ClinGen
Ensembl
rs1378135622
CA353871185
935 K>E No ClinGen
gnomAD
rs1426276998
CA353871137
937 H>Q No ClinGen
gnomAD
CA2520849
rs762306854
937 H>R No ClinGen
ExAC
gnomAD
CA79768460
rs147144304
939 D>H No ClinGen
ESP
CA353870977
rs1193990518
946 M>T No ClinGen
gnomAD
CA79768443
rs1003193205
949 K>R No ClinGen
TOPMed
TCGA novel 950 D>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2520847
rs764681021
951 T>S No ClinGen
ExAC
gnomAD
rs1559980835
CA353870819
955 H>Y No ClinGen
Ensembl
CA353870768
rs1240770088
957 Q>H No ClinGen
TOPMed
CA2520845
rs775066854
957 Q>R No ClinGen
ExAC
gnomAD
rs769268626
CA2520844
959 T>I No ClinGen
ExAC
gnomAD
rs770692954
CA2520841
961 V>L No ClinGen
ExAC
gnomAD
rs920249837
CA79768419
963 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA79768416
rs1041966107
966 S>R No ClinGen
TOPMed
rs777533902
CA2520839
969 T>R No ClinGen
ExAC
rs1463057896
CA353870514
970 A>G No ClinGen
TOPMed
rs749270421
CA2520837
972 M>I No ClinGen
ExAC
gnomAD
rs549056576
CA2520838
972 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA2520836
rs780169867
974 E>* No ClinGen
ExAC
gnomAD
TCGA novel 974 E>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 975 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2520834
rs750642606
976 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1054519351
CA79768365
978 S>C No ClinGen
TOPMed
gnomAD
TCGA novel 978 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353870363
rs1364569380
979 G>S No ClinGen
TOPMed
CA79768361
rs964275700
981 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs80262325
CA353870248
984 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781611958
CA2520833
984 E>K No ClinGen
ExAC
gnomAD
rs1170801781
CA353870234
985 T>S No ClinGen
gnomAD
rs1474655532
CA353870228
986 V>M No ClinGen
gnomAD
TCGA novel 992 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2520830
rs764439208
993 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs955733469
CA79768325
994 E>K No ClinGen
TOPMed
rs753198699
CA2520828
996 L>P No ClinGen
ExAC
gnomAD
CA2520829
rs370880069
996 L>V No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA353870015
rs1370601807
998 A>V No ClinGen
TOPMed
CA2520826
rs147439598
1002 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353869897
rs1307342539
1004 E>D No ClinGen
TOPMed
CA353869884
rs1275342363
1005 Y>C No ClinGen
TOPMed
gnomAD
CA2520824
rs150207556
1007 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1221241960
CA353869863
1007 S>T No ClinGen
TOPMed
TCGA novel 1008 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1576642124
CA353869847
1008 V>I No ClinGen
Ensembl
rs1306180119
CA353869821
1009 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 1011 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2520821
rs773075411
COSM3766823
1014 Q>R liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs771821359
CA2520820
1015 S>N No ClinGen
ExAC
gnomAD
rs1460478750
CA353869719
1016 I>F No ClinGen
gnomAD
CA2520819
COSM1035803
rs748112807
1016 I>S Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA353869717
rs748112807
1016 I>T No ClinGen
ExAC
gnomAD
CA353869696
rs1166734476
1017 M>I No ClinGen
gnomAD
TCGA novel 1017 M>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1458707818
CA353869661
1019 V>A No ClinGen
gnomAD
CA353869541
rs1559980699
1026 Q>E No ClinGen
Ensembl
CA2520815
rs191128900
1031 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA353869408
rs1210717148
1033 S>F No ClinGen
gnomAD
CA2520811
rs368180213
1035 V>A No ClinGen
ESP
ExAC
gnomAD
rs1559980678
CA353869391
1035 V>L No ClinGen
Ensembl
rs753229892
CA353869376
1036 A>G No ClinGen
ExAC
gnomAD
rs753229892
CA2520810
1036 A>V No ClinGen
ExAC
gnomAD
CA2520807
rs753351706
1046 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1376303279
CA353869275
1047 A>E No ClinGen
gnomAD
TCGA novel 1047 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM727538
CA353869270
rs1368199484
1048 H>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA79768255
rs983382911
1048 H>Y No ClinGen
TOPMed
CA2520806
rs201117588
1053 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD

1 associated diseases with O95625

[MIM: 618383]: Intellectual developmental disorder, autosomal recessive 69 (MRT69)

A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:28397838, ECO:0000269|PubMed:29893856}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:28397838, ECO:0000269|PubMed:29893856}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for O95625

Type Name Position InterPro Accession
domain Protein kinase domain 30 - 281 IPR000719
domain SARAH domain 433 - 480 IPR011524
binding_site Protein kinase, ATP binding site 36 - 59 IPR017441
domain Mst1 SARAH domain 433 - 480 IPR024205

Functions

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

2 GO annotations of cellular component

Name Definition
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

3 GO annotations of molecular function

Name Definition
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.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.

1 GO annotations of biological process

Name Definition
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

178 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
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
Q8IZM8 ZNF654 Zinc finger protein 654 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
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
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 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
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
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
P28698 MZF1 Myeloid zinc finger 1 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
Q9DAU9 Znf654 Zinc finger protein 654 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
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
Q9LFU0 DOT3 BTB/POZ domain-containing protein DOT3 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
MSSEESYRAI LRYLTNEREP YAPGTEGNVK RKIRKAAACY VVRGGTLYYQ RRQRHRKTFA
70 80 90 100 110 120
ELEVVLQPER RRDLIEAAHL GPGGTHHTRH QTWHYLSKTY WWRGILKQVK DYIKQCSKCQ
130 140 150 160 170 180
EKLDRSRPIS DVSEMLEELG LDLESGEESN ESEDDLSNFT SSPTTASKPA KKKPVSKHEL
190 200 210 220 230 240
VFVDTKGVVK RSSPKHCQAV LKQLNEQRLS NQFCDVTLLI EGEEYKAHKS VLSANSEYFR
250 260 270 280 290 300
DLFIEKGAVS SHEAVVDLSG FCKASFLPLL EFAYTSVLSF DFCSMADVAI LARHLFMSEV
310 320 330 340 350 360
LEICESVHKL MEEKQLTVYK KGEVQTVAST QDLRVQNGGT APPVASSEGT TTSLPTELGD
370 380 390 400 410 420
CEIVLLVNGE LPEAEQNGEV GRQPEPQVSS EAESALSSVG CIADSHPEME SVDLITKNNQ
430 440 450 460 470 480
TELETSNNRE NNTVSNIHPK LSKENVISSS PEDSGMGNDI SAEDICAEDI PKHRQKVDQP
490 500 510 520 530 540
LKDQENLVAS TAKTDFGPDD DTYRSRLRQR SVNEGAYIRL HKGMEKKLQK RKAVPKSAVQ
550 560 570 580 590 600
QVAQKLVQRG KKMKQPKRDA KENTEEASHK CGECGMVFQR RYALIMHKLK HERARDYKCP
610 620 630 640 650 660
LCKKQFQYSA SLRAHLIRHT RKDAPSSSSS NSTSNEASGT SSEKGRTKRE FICSICGRTL
670 680 690 700 710 720
PKLYSLRIHM LKHTGVKPHA CQVCGKTFIY KHGLKLHQSL HQSQKQFQCE LCVKSFVTKR
730 740 750 760 770 780
SLQEHMSIHT GESKYLCSVC GKSFHRGSGL SKHFKKHQPK PEVRGYHCTQ CEKSFFEARD
790 800 810 820 830 840
LRQHMNKHLG VKPFQCQFCD KCYSWKKDWY SHVKSHSVTE PYRCNICGKE FYEKALFRRH
850 860 870 880 890 900
VKKATHGKKG RAKQNLERVC EKCGRKFTQL REYRRHMNNH EGVKPFECLT CGVAWADARS
910 920 930 940 950 960
LKRHVRTHTG ERPYVCPVCS EAYIDARTLR KHMTKFHRDY VPCKIMLEKD TLQFHNQGTQ
970 980 990 1000 1010 1020
VAHAVSILTA GMQEQESSGP QELETVVVTG ETMEALEAVA ATEEYPSVST LSDQSIMQVV
1030 1040 1050
NYVLAQQQGQ KLSEVAEAIQ TVKVEVAHIS GGE