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 Q6ZMS7

Entry ID Method Resolution Chain Position Source
AF-Q6ZMS7-F1 Predicted AlphaFoldDB

548 variants for Q6ZMS7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1317115726
CA369739219
3 E>K No ClinGen
TOPMed
gnomAD
CA369739268
rs1230667034
5 A>E No ClinGen
TOPMed
gnomAD
CA369739290
rs1266658950
7 A>D No ClinGen
gnomAD
CA168939679
rs895010022
7 A>S No ClinGen
Ensembl
CA369740520
rs1202758829
9 D>H No ClinGen
TOPMed
CA369740554
rs1320417373
10 P>S No ClinGen
TOPMed
gnomAD
rs762913552
CA4551449
11 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs762913552
CA4551448
11 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA168940221
rs887083293
12 T>A No ClinGen
TOPMed
CA369740655
COSM1087138
rs1180299374
15 H>R Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA369740650
rs1284264639
15 H>Y No ClinGen
TOPMed
rs183830002
CA4551451
16 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs983927041
CA168940222
19 Q>* No ClinGen
Ensembl
CA369740791
rs1472175723
20 S>C No ClinGen
gnomAD
CA369740802
rs767799252
21 P>A No ClinGen
ExAC
gnomAD
CA369740809
rs1415925055
21 P>R No ClinGen
gnomAD
CA4551452
rs767799252
21 P>S No ClinGen
ExAC
gnomAD
CA168940223
rs964136308
22 S>A No ClinGen
TOPMed
gnomAD
CA4551453
rs750780039
22 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1016966799
CA168940224
23 T>I No ClinGen
TOPMed
gnomAD
CA4551458
rs201412647
26 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs187646530
CA4551460
27 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778647634
CA4551461
28 P>L No ClinGen
ExAC
gnomAD
rs1286359005
CA369740962
28 P>S No ClinGen
gnomAD
rs1228268280
CA369740999
30 A>D No ClinGen
gnomAD
rs1335663458
CA369741066
32 K>R No ClinGen
gnomAD
CA369741094
rs1213180815
33 N>S No ClinGen
gnomAD
CA4551464
rs372949818
34 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs539952228
CA4551463
34 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369741160
rs1585607877
35 Y>S No ClinGen
Ensembl
rs1486103494
CA369741184
36 L>F No ClinGen
gnomAD
CA4551467
rs370654654
37 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4551468
rs370654654
37 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1585607898
CA369741262
38 S>P No ClinGen
Ensembl
rs375252803
CA4551469
39 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376928733
CA4551470
39 T>M No ClinGen
ESP
ExAC
gnomAD
CA369741338
rs1563194122
40 E>* No ClinGen
Ensembl
rs1390704388
CA369741359
40 E>G No ClinGen
gnomAD
rs772264616
CA4551472
41 I>V No ClinGen
ExAC
gnomAD
CA369741459
CA4551473
rs773612154
44 W>C No ClinGen
ExAC
gnomAD
CA4551474
rs570103600
COSM290610
45 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA168940225
rs1013924997
46 V>M No ClinGen
TOPMed
rs754248361
CA4551476
47 V>M No ClinGen
ExAC
gnomAD
rs759098584
CA4551477
48 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4551480
rs555295133
49 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4551479
COSM1165580
rs555295133
49 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1419598003
CA369741618
50 I>V No ClinGen
gnomAD
CA4551481
rs777537263
55 K>R No ClinGen
ExAC
gnomAD
CA369741879
rs1440549950
57 V>G No ClinGen
gnomAD
rs757073533
CA4551483
57 V>M No ClinGen
ExAC
gnomAD
CA369741883
rs1209144642
58 D>Y No ClinGen
gnomAD
CA369741918
rs1585608000
59 S>P No ClinGen
Ensembl
CA4551484
rs781204727
60 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA369741978
rs1407105160
61 L>P No ClinGen
TOPMed
CA369741988
rs1585608016
62 T>P No ClinGen
Ensembl
VAR_069466
CA4551486
rs764239191
63 R>C No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs764239191
CA168940228
63 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs778915004
CA4551487
63 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369742067
rs1401924196
64 L>* No ClinGen
gnomAD
CA168940229
rs975876618
67 L>P No ClinGen
Ensembl
rs371590702
CA4551490
70 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199642262
CA4551491
70 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371590702
CA369742170
70 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4551492
rs747397135
71 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA369742220
rs1290396489
74 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1331758902
CA369742247
75 E>A No ClinGen
gnomAD
CA4551495
rs946974077
75 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs760021439
CA4551497
77 K>Q No ClinGen
ExAC
gnomAD
rs1344549959
CA369742319
79 A>S No ClinGen
gnomAD
rs867612408
CA168940232
79 A>V No ClinGen
Ensembl
CA4551501
rs375058348
80 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375058348
CA4551500
80 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757124959
CA4551503
82 E>G No ClinGen
ExAC
gnomAD
CA369742370
rs1206750393
82 E>K No ClinGen
gnomAD
rs61729506
CA4551504
84 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1200345855
CA369742466
86 V>L No ClinGen
gnomAD
CA369742518
CA4551505
rs750216220
88 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs780007162
CA4551507
89 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4551508
rs748258138
89 G>V No ClinGen
ExAC
gnomAD
rs1362650802
CA369742582
92 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1414670689
CA369742576
92 L>V No ClinGen
gnomAD
rs1455914350
CA369742586
93 E>K No ClinGen
gnomAD
CA369742629
rs1157223712
96 W>R No ClinGen
TOPMed
CA369742666
rs1392063469
97 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM297588
rs148032718
CA4551511
98 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369742736
rs1410686897
103 L>R No ClinGen
gnomAD
CA4551513
rs776911206
104 Q>R No ClinGen
ExAC
gnomAD
CA4551514
rs201372254
105 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369742777
rs1563194275
105 E>D No ClinGen
Ensembl
CA369742779
rs1259271924
106 Y>N No ClinGen
gnomAD
rs747914903
CA168940233
107 G>R No ClinGen
Ensembl
rs372926024
CA369742884
112 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4551517
rs762570397
112 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4551516
rs372926024
112 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs76542443
CA168940234
114 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA369742924
rs1563194297
115 N>D No ClinGen
Ensembl
rs1005456442
CA168940235
117 E>K No ClinGen
TOPMed
gnomAD
CA4551519
rs368820709
118 N>Y No ClinGen
ESP
ExAC
gnomAD
CA4551522
rs750220796
121 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1369586129
CA369743073
121 R>H No ClinGen
gnomAD
rs548957368
CA369743088
122 N>K No ClinGen
TOPMed
gnomAD
rs990067076
CA168940236
122 N>S No ClinGen
TOPMed
COSM3358105
rs372527891
CA4551524
123 R>S haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1384912421
CA369743119
124 N>K No ClinGen
TOPMed
gnomAD
rs1430332793
CA369743115
124 N>S No ClinGen
Ensembl
rs753716970
CA4551526
126 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1430484880
CA369743153
126 W>G No ClinGen
gnomAD
CA369743192
rs1407811190
127 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4551527
rs758475845
127 I>V No ClinGen
ExAC
gnomAD
rs771858882
CA168940239
128 L>S No ClinGen
TOPMed
gnomAD
rs375882104
CA4551530
129 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4551529
rs751617418
129 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA4551532
rs781436526
131 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA369743225
rs781436526
131 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs369568498
CA4551535
132 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369568498
CA369743248
132 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369743240
rs1481848442
132 P>S No ClinGen
gnomAD
rs1425860519
CA369743259
133 G>D No ClinGen
gnomAD
CA4551539
rs761353217
135 K>N No ClinGen
ExAC
gnomAD
rs773025966
CA168940242
135 K>R No ClinGen
Ensembl
rs760399487
CA4551542
136 G>E No ClinGen
ExAC
gnomAD
CA4551541
rs772870369
136 G>W No ClinGen
ExAC
gnomAD
CA369743324
rs1388359220
137 E>K No ClinGen
gnomAD
CA168940243
rs200191576
138 A>P No ClinGen
TOPMed
CA168940244
rs200191576
138 A>S No ClinGen
TOPMed
CA369743358
rs1212638349
139 P>S No ClinGen
TOPMed
rs1402648640
CA369743371
140 K>E No ClinGen
gnomAD
CA4551543
rs766131532
140 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs374264922
CA168940251
142 P>S No ClinGen
ESP
CA4551570
rs776758993
143 V>M Variant assessed as Somatic; 9.268e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754283547
CA4551572
148 V>M No ClinGen
ExAC
gnomAD
CA4551574
rs199966456
150 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs565735467
CA4551576
151 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1386338957
CA369743668
156 E>G No ClinGen
gnomAD
rs1297561970
CA369743691
157 W>* No ClinGen
TOPMed
CA168940255
rs899779290
158 G>S No ClinGen
TOPMed
CA168940256
rs983614625
159 K>R No ClinGen
TOPMed
rs375273505
CA168940257
164 Q>E No ClinGen
ESP
TOPMed
gnomAD
CA369743979
rs1179622042
169 K>R No ClinGen
TOPMed
CA4551581
rs745677484
170 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs775146967
CA4551583
171 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4551584
rs763008992
172 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1009625497
CA168940258
174 G>C No ClinGen
TOPMed
gnomAD
rs932638294
CA168940259
175 N>K No ClinGen
TOPMed
CA369744151
rs1267323617
175 N>S No ClinGen
gnomAD
CA369744176
rs199566596
176 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs773378559
CA4551586
177 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs773378559
CA369744180
177 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4551587
rs369906136
178 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369744221
rs369906136
178 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369744401
rs1431274032
183 D>E No ClinGen
gnomAD
CA369744422
rs1254207446
184 Y>* No ClinGen
TOPMed
gnomAD
rs369627807
CA4551607
184 Y>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369627807
CA168940271
184 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369627807
CA369744407
184 Y>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369744440
rs1449200390
185 A>G No ClinGen
gnomAD
CA369744446
rs1445476507
186 I>N No ClinGen
TOPMed
CA4551608
rs202015847
186 I>V No ClinGen
ExAC
gnomAD
CA4551609
rs199756171
190 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA168940272
rs921159741
191 I>S No ClinGen
Ensembl
rs1272558424
CA369744548
191 I>V No ClinGen
gnomAD
CA369744585
rs1210531701
193 T>A No ClinGen
gnomAD
rs753137779
CA4551611
193 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs764676867
CA4551613
194 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs375086031
CA4551612
194 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA369744627
rs1450717681
196 E>* No ClinGen
gnomAD
CA4551614
rs751997559
196 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA369744641
rs1418326868
197 R>G No ClinGen
gnomAD
CA369744645
rs757759946
197 R>K No ClinGen
ExAC
gnomAD
rs757759946
CA4551615
197 R>M No ClinGen
ExAC
gnomAD
rs1563194754
CA369744659
198 G>E No ClinGen
Ensembl
CA369744678
rs1178735568
199 E>D No ClinGen
gnomAD
rs1404307653
CA369744681
200 E>K No ClinGen
gnomAD
rs1452566312
CA369744694
201 P>S No ClinGen
gnomAD
CA168940273
rs780740657
203 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA4551616
rs780740657
203 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs115295014
CA4551618
205 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4551617
rs749916281
205 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4551620
rs779529098
206 W>C No ClinGen
ExAC
gnomAD
CA4551621
rs749127333
207 G>C No ClinGen
ExAC
gnomAD
CA4551622
rs768275364
207 G>D No ClinGen
ExAC
rs116696219
CA4551624
212 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1465903980
CA369745062
213 E>D No ClinGen
TOPMed
gnomAD
CA369745053
rs1425035467
213 E>K No ClinGen
TOPMed
rs772120840
CA4551625
214 V>I No ClinGen
ExAC
gnomAD
CA168940274
rs369155710
215 E>G No ClinGen
Ensembl
CA4551626
rs776899484
216 V>A No ClinGen
ExAC
gnomAD
rs1240977361
CA369745085
216 V>M No ClinGen
gnomAD
CA4551627
rs61729498
218 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775517682
CA4551629
218 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs61729498
CA4551628
218 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763382105
CA4551630
219 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs370326487
CA168940275
221 M>I No ClinGen
ESP
gnomAD
rs751909710
CA4551632
222 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs764434983
CA369745146
222 M>L No ClinGen
ExAC
gnomAD
rs751909710
CA369745152
222 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs764434983
CA4551631
222 M>V No ClinGen
ExAC
gnomAD
CA4551634
rs767983719
223 G>D No ClinGen
ExAC
gnomAD
CA4551633
rs762359014
223 G>S No ClinGen
ExAC
gnomAD
CA4551636
rs755525423
224 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs779767951
CA4551637
225 G>R No ClinGen
ExAC
gnomAD
CA369747779
rs1369535573
226 L>P No ClinGen
gnomAD
CA4551662
rs758210065
227 P>S No ClinGen
ExAC
rs777858074
CA4551663
228 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs777858074
CA168943968
228 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA369747840
rs1430664923
230 P>S No ClinGen
TOPMed
gnomAD
CA369747852
rs1563198498
231 E>V No ClinGen
Ensembl
rs1398449469
CA369747896
233 L>F No ClinGen
gnomAD
CA4551665
rs757207144
236 P>Q No ClinGen
ExAC
gnomAD
rs1019985726
CA168943990
238 S>G No ClinGen
gnomAD
rs368322550
CA4551667
238 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368322550
CA369748004
238 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369748036
rs1358032204
240 A>T No ClinGen
TOPMed
gnomAD
rs748521940
CA4551670
242 E>K No ClinGen
ExAC
gnomAD
rs773559096
CA168944019
243 E>D No ClinGen
ExAC
gnomAD
rs772352596
CA4551671
243 E>K No ClinGen
ExAC
gnomAD
CA4551673
rs761141396
244 L>R No ClinGen
ExAC
gnomAD
rs1038325883
CA168944023
244 L>V No ClinGen
TOPMed
CA4551674
rs186192994
245 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4551675
rs776044794
251 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA168944029
rs572840599
252 Q>* No ClinGen
1000Genomes
CA369748384
rs1170781355
252 Q>H No ClinGen
gnomAD
CA369748426
rs1563198544
254 Q>* No ClinGen
Ensembl
CA369748522
rs1563198546
257 E>Q No ClinGen
Ensembl
rs764995998
CA4551677
258 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA369748597
rs1395004398
259 R>K No ClinGen
Ensembl
CA4551679
rs375366578
260 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369748637
rs1585619260
261 A>P No ClinGen
Ensembl
rs1470923231
CA369748730
263 A>P No ClinGen
gnomAD
CA369748732
rs1470923231
263 A>S No ClinGen
gnomAD
rs751349398
CA4551681
264 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA4551682
rs757185010
265 P>S No ClinGen
ExAC
gnomAD
rs146586179
CA4551683
267 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1563199619
CA369749958
268 G>A No ClinGen
Ensembl
rs373756402
CA168945899
269 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4551701
rs373756402
269 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs919247678
CA168945912
270 G>C No ClinGen
Ensembl
rs1296663228
CA369749977
271 V>M No ClinGen
TOPMed
CA4551703
rs753260193
273 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs779020314
CA4551704
274 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA369750623
rs1428289866
275 T>P No ClinGen
gnomAD
CA4551705
rs752749935
276 E>Q No ClinGen
ExAC
gnomAD
CA369750715
rs1585621922
278 Q>H No ClinGen
Ensembl
CA369750762
rs1452414774
281 D>N No ClinGen
gnomAD
CA4551709
rs370936495
282 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370936495
CA4551710
282 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770404088
CA4551712
284 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs770404088
CA168945943
284 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA4551714
rs377453479
285 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761513320
CA4551717
287 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs774001157
CA4551716
287 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1294270168
CA369750906
288 L>F No ClinGen
gnomAD
rs750167648
CA4551719
291 G>R No ClinGen
ExAC
gnomAD
CA168945977
rs919072447
293 S>C No ClinGen
TOPMed
gnomAD
CA369751066
rs919072447
293 S>F No ClinGen
TOPMed
gnomAD
rs766271472
CA4551721
293 S>P No ClinGen
ExAC
gnomAD
rs1271597203
CA369751070
294 R>G No ClinGen
TOPMed
CA4551723
rs752803376
294 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs752803376
CA4551722
294 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA168946009
rs747865532
296 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA4551725
rs747865532
296 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA168946030
rs997877312
297 T>I No ClinGen
Ensembl
rs1385639861
CA369751129
298 E>G No ClinGen
TOPMed
CA369751121
rs1162457571
298 E>Q No ClinGen
gnomAD
rs565321046
CA4551727
299 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1585622092
CA369751190
301 I>T No ClinGen
Ensembl
CA168946047
rs1048939803
302 P>S No ClinGen
TOPMed
rs780655348
CA4551731
303 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs780655348
CA369751242
303 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1563199733
CA369751247
303 R>L No ClinGen
Ensembl
CA369751259
rs1317278975
304 G>R No ClinGen
gnomAD
CA168946075
rs571667242
306 R>K No ClinGen
TOPMed
gnomAD
CA4551732
rs748817280
306 R>W No ClinGen
ExAC
gnomAD
rs1307908866
CA369751378
309 P>L No ClinGen
gnomAD
CA4551735
rs747895690
310 G>R No ClinGen
ExAC
gnomAD
rs771604858
CA4551736
311 G>A No ClinGen
ExAC
gnomAD
CA168946086
rs1022383900
311 G>S No ClinGen
Ensembl
rs771604858
CA4551737
311 G>V No ClinGen
ExAC
gnomAD
rs766326958
CA4551739
312 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA4551738
rs760424619
312 P>S No ClinGen
ExAC
gnomAD
CA168946122
rs61736972
313 S>T No ClinGen
Ensembl
rs776494549
CA4551740
314 R>C No ClinGen
ExAC
gnomAD
CA168946127
rs901630761
314 R>H No ClinGen
TOPMed
gnomAD
rs764291607
CA4551742
315 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA4551741
rs759465935
315 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA369751667
rs1168815508
318 Q>* No ClinGen
TOPMed
gnomAD
CA369751687
rs1362172960
318 Q>H No ClinGen
TOPMed
CA4551744
rs558050239
319 G>C No ClinGen
1000Genomes
ExAC
gnomAD
CA369751702
rs1433464106
319 G>D No ClinGen
Ensembl
CA168946146
rs558050239
319 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA4551745
rs767592206
320 M>T No ClinGen
ExAC
gnomAD
CA4551747
rs750836942
321 P>H No ClinGen
ExAC
gnomAD
CA4551746
rs750836942
321 P>L No ClinGen
ExAC
gnomAD
CA369751787
rs1380750542
322 R>K No ClinGen
gnomAD
CA4551748
rs780706524
323 V>A No ClinGen
ExAC
gnomAD
rs1364392893
CA369751847
324 R>Q No ClinGen
gnomAD
CA168946187
rs997203936
324 R>W No ClinGen
TOPMed
gnomAD
CA369751865
rs778537254
325 A>G No ClinGen
ExAC
gnomAD
CA4551749
rs202079265
325 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4551750
rs202079265
325 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4551751
rs778537254
325 A>V No ClinGen
ExAC
gnomAD
rs1389878548
CA369751913
327 E>G No ClinGen
TOPMed
CA369751899
rs1216594467
327 E>Q No ClinGen
gnomAD
CA4551752
rs747582497
328 P>T No ClinGen
ExAC
gnomAD
rs373977749
CA4551755
329 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4551754
rs373977749
329 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369751953
rs1383246821
330 P>L No ClinGen
TOPMed
CA4551756
rs770645879
331 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1476201464
CA369751972
332 G>E No ClinGen
gnomAD
CA4551757
rs776397470
332 G>R No ClinGen
ExAC
gnomAD
CA168946243
rs919381653
333 A>S No ClinGen
TOPMed
gnomAD
rs765052448
CA4551759
333 A>V No ClinGen
ExAC
gnomAD
CA4551762
rs761748056
336 E>K No ClinGen
ExAC
gnomAD
CA4551763
rs767863188
337 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA369752174
rs1346982536
338 P>L No ClinGen
gnomAD
rs750603634
CA4551764
339 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs756395745
COSM1269840
CA4551765
339 R>Q oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1223870727
CA369752214
340 V>A No ClinGen
gnomAD
CA369752243
rs1290097133
342 S>Y No ClinGen
TOPMed
rs557259912
CA4551766
343 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4551767
rs554931058
343 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4551771
rs757789601
345 R>Q No ClinGen
ExAC
gnomAD
CA4551770
rs747717801
345 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA4551772
rs777407775
347 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs746721423
CA369752372
348 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA4551773
rs746721423
348 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA369752429
rs1410337606
350 P>L No ClinGen
gnomAD
CA4551775
rs770547755
350 P>S No ClinGen
ExAC
gnomAD
rs1237138666
CA369752438
351 C>Y No ClinGen
gnomAD
CA369752506
rs1406950428
353 D>G No ClinGen
gnomAD
CA369752491
rs1366388810
353 D>N No ClinGen
gnomAD
CA369752550
rs1302386921
354 C>F No ClinGen
TOPMed
CA4551780
rs761954014
355 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA4551778
rs769790352
355 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA4551779
rs769790352
355 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA4551781
rs772340007
357 S>I No ClinGen
ExAC
gnomAD
rs1429439803
CA369752635
358 F>L No ClinGen
TOPMed
CA4551782
rs773416455
359 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1158047752
CA369752655
359 R>H No ClinGen
gnomAD
CA369752688
rs1282893100
361 K>R No ClinGen
gnomAD
rs1224186448
CA369752710
362 I>M No ClinGen
gnomAD
rs1359744344
CA369752700
362 I>V No ClinGen
gnomAD
CA168946409
rs1052125531
363 N>K No ClinGen
Ensembl
rs758063639
CA4551783
363 N>S No ClinGen
ExAC
gnomAD
CA4551785
rs777719517
365 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA369752755
rs777719517
365 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA369752777
rs1468700458
366 I>T No ClinGen
gnomAD
CA369752795
rs1563199940
367 H>Y No ClinGen
Ensembl
CA369752805
rs1267199590
368 Q>* No ClinGen
TOPMed
rs1334509116
CA369752819
369 R>L No ClinGen
gnomAD
rs1221317304
CA369752830
370 T>I No ClinGen
TOPMed
CA369752836
rs1358251005
371 H>N No ClinGen
TOPMed
gnomAD
rs368133659
CA168946425
371 H>R No ClinGen
ESP
TOPMed
gnomAD
CA369752832
rs1358251005
371 H>Y No ClinGen
TOPMed
gnomAD
CA4551787
rs765789035
373 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA168946430
rs1011072644
374 E>K No ClinGen
gnomAD
rs567322464
CA369752906
375 G>A No ClinGen
gnomAD
rs567322464
CA168946441
375 G>E No ClinGen
gnomAD
rs753080128
CA4551788
375 G>R No ClinGen
ExAC
gnomAD
CA369752911
rs1343934588
376 R>Q No ClinGen
TOPMed
CA168946444
rs573291734
376 R>W No ClinGen
1000Genomes
TOPMed
gnomAD
CA4551790
rs777313369
379 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1289118578
CA369752980
380 P>S No ClinGen
gnomAD
rs866548643
CA168946457
381 G>S No ClinGen
TOPMed
rs950494246
CA168946459
382 R>C No ClinGen
TOPMed
rs780773117
CA369753023
382 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4551793
rs780773117
382 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA369753036
rs1428174826
383 S>* No ClinGen
TOPMed
CA369753042
rs1428174826
383 S>L No ClinGen
TOPMed
rs1190931147
CA369753061
384 P>L No ClinGen
TOPMed
rs779890841
CA4551796
388 G>R No ClinGen
ExAC
gnomAD
CA369753128
rs1220203729
389 D>E No ClinGen
TOPMed
gnomAD
rs1243826589
CA369753122
389 D>N No ClinGen
TOPMed
gnomAD
rs1278274210
CA369753145
391 Q>* No ClinGen
gnomAD
CA4551798
rs768696843
392 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA4551799
rs773469591
392 A>V No ClinGen
ExAC
gnomAD
rs1310684462
CA369753178
394 L>P No ClinGen
TOPMed
gnomAD
rs909167727
CA369753201
396 P>A No ClinGen
TOPMed
CA4551801
rs760800047
396 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA4551800
rs760800047
396 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs909167727
CA168946477
396 P>S No ClinGen
TOPMed
CA4551803
rs759951143
399 V>A No ClinGen
ExAC
rs1585622675
CA369753222
399 V>M No ClinGen
Ensembl
CA4551804
rs765587064
401 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs753082830
CA369753262
403 G>C No ClinGen
ExAC
gnomAD
rs753082830
CA4551805
403 G>S No ClinGen
ExAC
gnomAD
rs763489446
CA4551806
404 P>S No ClinGen
ExAC
gnomAD
CA369753284
rs1339535210
405 V>A No ClinGen
gnomAD
rs764543849
CA369753279
405 V>I No ClinGen
ExAC
rs764543849
CA4551807
405 V>L No ClinGen
ExAC
CA168946530
rs773853616
406 I>T No ClinGen
Ensembl
CA4551808
rs751089401
407 R>C No ClinGen
ExAC
gnomAD
CA4551809
rs200388581
407 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200388581
CA4551810
407 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4551811
rs200388581
407 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA168946546
rs34562460
407 R>Q No ClinGen
Ensembl
rs563316200
CA4551813
408 W>* No ClinGen
1000Genomes
ExAC
gnomAD
CA4551814
rs368715371
410 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369753332
rs1255499208
411 E>K No ClinGen
TOPMed
gnomAD
CA4551815
rs754999966
416 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1172951039
CA369753393
416 R>H No ClinGen
gnomAD
CA4551816
rs778948398
417 R>C No ClinGen
ExAC
gnomAD
CA4551817
rs747100593
417 R>L No ClinGen
ExAC
gnomAD
rs985292941
CA168946571
418 S>F No ClinGen
TOPMed
CA369753404
rs1406688371
418 S>P No ClinGen
gnomAD
rs776768671
CA4551819
419 V>A No ClinGen
ExAC
gnomAD
CA369753414
rs1244296670
419 V>M No ClinGen
TOPMed
CA369753425
rs746135481
420 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA4551820
rs746135481
420 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA369753423
rs746135481
420 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA369753430
rs1412540764
421 G>E No ClinGen
TOPMed
gnomAD
CA4551821
rs770027250
421 G>R No ClinGen
ExAC
gnomAD
rs775748458
CA4551822
422 G>C No ClinGen
ExAC
gnomAD
CA4551823
rs192335642
423 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4551824
rs192335642
423 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4551825
rs774770081
423 R>H No ClinGen
ExAC
gnomAD
rs762301469
CA4551826
424 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs766989269
CA4551827
427 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA369753482
rs1255498834
427 G>R No ClinGen
gnomAD
rs1207180346
CA369753489
428 R>Q No ClinGen
gnomAD
rs1563200137
CA369753488
428 R>W No ClinGen
Ensembl
rs565407559
CA369753499
429 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4551828
rs565407559
429 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1259890419
CA369753496
429 R>W No ClinGen
gnomAD
rs376849018
CA369753508
430 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376849018
CA4551830
430 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753711534
CA4551831
432 A>P No ClinGen
ExAC
gnomAD
CA369753518
rs753711534
432 A>T No ClinGen
ExAC
gnomAD
rs778999705
CA4551833
435 M>I No ClinGen
ExAC
gnomAD
rs1381359233
CA369753554
435 M>T No ClinGen
TOPMed
rs754765746
CA4551832
435 M>V No ClinGen
ExAC
gnomAD
rs748165288
CA4551834
436 Y>C No ClinGen
ExAC
gnomAD
rs758343751
CA4551836
442 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA4551837
rs745921411
443 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs745921411
CA369753644
443 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs769929691
CA4551838
443 R>H No ClinGen
ExAC
gnomAD
CA4551839
rs775721783
444 F>C No ClinGen
ExAC
TOPMed
gnomAD
CA369753687
rs749654912
446 Q>L No ClinGen
ExAC
gnomAD
CA4551840
rs749654912
446 Q>P No ClinGen
ExAC
gnomAD
CA369753689
rs749654912
446 Q>R No ClinGen
ExAC
gnomAD
CA369753704
rs1585622926
447 Q>* No ClinGen
Ensembl
CA369753709
rs1353283575
447 Q>R No ClinGen
gnomAD
CA4551841
rs769073495
448 R>C No ClinGen
ExAC
gnomAD
CA369753729
rs1269336467
448 R>H No ClinGen
gnomAD
rs1490777682
CA369753739
449 K>R No ClinGen
gnomAD
CA4551843
rs762352916
450 S>N No ClinGen
ExAC
gnomAD
rs1367916742
CA369753796
453 L>P No ClinGen
gnomAD
CA4551847
rs776732150
456 R>C No ClinGen
ExAC
gnomAD
COSM1234599
rs1374731706
CA369753859
456 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1376163012
CA369753887
458 H>P No ClinGen
gnomAD
CA369753889
rs1376163012
458 H>R No ClinGen
gnomAD
CA168946705
rs866768638
460 G>D No ClinGen
TOPMed
gnomAD
CA369753913
rs1361390032
460 G>S No ClinGen
TOPMed
gnomAD
rs1043898383
CA168946706
461 N>S No ClinGen
Ensembl
CA369754009
rs1480926145
465 W>* No ClinGen
gnomAD
CA168946710
rs950856005
467 A>T No ClinGen
TOPMed
rs1243673541
CA369754048
467 A>V No ClinGen
TOPMed
CA4551854
rs777716545
468 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs1224969389
CA369754078
469 P>L No ClinGen
TOPMed
rs1476946452
CA369754088
470 Y>F No ClinGen
gnomAD
CA4551857
rs780099851
472 G>S No ClinGen
ExAC
gnomAD
rs201974383
CA4551858
472 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369754152
rs1423932122
474 A>G No ClinGen
TOPMed
gnomAD
CA4551860
rs374039845
474 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369754157
rs1453443912
475 F>L No ClinGen
gnomAD
rs748475207
CA4551861
475 F>L No ClinGen
ExAC
gnomAD
CA4551862
rs772482835
476 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA369754182
rs772482835
476 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs371019370
CA168946726
476 R>H No ClinGen
gnomAD
CA4551864
rs760111366
477 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA369754211
rs1420983878
478 P>S No ClinGen
TOPMed
rs376761442
CA168946744
479 S>L No ClinGen
ESP
TOPMed
gnomAD
rs376761442
CA168946740
479 S>W No ClinGen
ESP
TOPMed
gnomAD
rs776269069
CA4551866
480 D>Y No ClinGen
ExAC
gnomAD
CA4551867
rs557562339
481 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs557562339
CA168946755
481 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369754277
rs1471611511
483 R>Q No ClinGen
TOPMed
gnomAD
CA4551868
rs745929263
483 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1420747771
CA369754305
485 Q>* No ClinGen
gnomAD
CA168946786
rs993417568
486 R>C No ClinGen
gnomAD
CA168946787
rs1026124581
490 G>S No ClinGen
TOPMed
gnomAD
rs1329837346
CA369754412
491 E>Q No ClinGen
TOPMed
gnomAD
CA168946788
rs763941867
492 R>G No ClinGen
ExAC
gnomAD
rs377559200
CA4551872
492 R>Q No ClinGen
ESP
ExAC
TOPMed
CA4551871
rs763941867
492 R>W No ClinGen
ExAC
gnomAD
rs1362460449
CA369754439
493 P>R No ClinGen
gnomAD
CA4551873
rs370091317
493 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4551875
rs780152877
494 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs536823089
CA168946835
496 C>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4551876
rs536823089
496 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4551878
rs779061654
497 P>L No ClinGen
ExAC
gnomAD
CA369754507
rs1440188701
498 Q>* No ClinGen
gnomAD
rs1158592667
CA369754516
498 Q>H No ClinGen
TOPMed
rs375880636
CA369754539
501 R>G No ClinGen
ESP
TOPMed
gnomAD
rs200039006
CA4551879
501 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA168946863
rs375880636
501 R>W No ClinGen
ESP
TOPMed
gnomAD
rs375019406
CA4551882
504 N>S No ClinGen
ESP
ExAC
gnomAD
CA4551883
rs747611820
505 R>H No ClinGen
ExAC
gnomAD
CA369754648
rs1563200417
507 H>R No ClinGen
Ensembl
rs1413959179
CA369754680
509 L>M No ClinGen
gnomAD
CA4551887
rs759067027
511 V>L No ClinGen
ExAC
gnomAD
rs759067027
CA369754709
511 V>M No ClinGen
ExAC
gnomAD
rs1484887106
CA369754730
512 H>P No ClinGen
TOPMed
CA369754727
rs1398334539
512 H>Y No ClinGen
gnomAD
rs1289085823
CA369754743
513 M>V No ClinGen
TOPMed
gnomAD
CA4551888
rs769584304
517 A>T No ClinGen
ExAC
TOPMed
CA369754798
rs1296124625
517 A>V No ClinGen
gnomAD
rs775214949
CA369754801
518 R>* No ClinGen
ExAC
gnomAD
rs775214949
CA369754799
518 R>G No ClinGen
ExAC
gnomAD
CA369754802
rs1276527742
518 R>Q No ClinGen
gnomAD
CA369754808
rs1563200457
519 G>S No ClinGen
Ensembl
CA369754832
rs1218096417
521 V>M No ClinGen
gnomAD
CA4551891
rs573328772
523 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369754870
CA4551893
rs761846019
524 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs773993185
CA4551892
524 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1245457638
CA369754890
526 P>L No ClinGen
gnomAD
rs1202289057
CA369754889
526 P>S No ClinGen
gnomAD
CA369754903
rs1477967305
527 A>V No ClinGen
gnomAD
CA369754913
rs767398607
528 A>D No ClinGen
ExAC
TOPMed
gnomAD
COSM1622520
CA369754908
rs1410184137
528 A>S liver [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA369754905
rs1410184137
528 A>T No ClinGen
TOPMed
gnomAD
CA4551895
rs767398607
528 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1470361305
CA369754917
COSM1197402
529 P>A lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs112363552
CA168946989
530 A>T No ClinGen
Ensembl
CA369754933
rs1191150831
530 A>V No ClinGen
TOPMed
gnomAD
CA369754935
rs1425037668
531 R>C No ClinGen
TOPMed
gnomAD
rs539045489
CA369754943
531 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4551896
rs539045489
531 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369754964
rs1329303692
533 G>R No ClinGen
gnomAD
rs926396745
CA168947002
534 S>N No ClinGen
TOPMed
gnomAD
CA369754987
rs754997159
534 S>R No ClinGen
ExAC
gnomAD
rs926396745
CA369754981
534 S>T No ClinGen
TOPMed
gnomAD
CA4551898
rs765452556
535 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA369755006
rs1472870524
536 P>L No ClinGen
TOPMed
gnomAD
rs778251167
CA4551901
538 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs758538000
CA4551900
538 P>S No ClinGen
ExAC
gnomAD
CA369755023
rs1451553638
539 W>R No ClinGen
gnomAD
rs747304567
CA4551902
540 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1183077124
CA369755042
540 P>T No ClinGen
gnomAD
rs1437888757
CA369755055
541 S>N No ClinGen
TOPMed
gnomAD
CA369755065
rs1178308856
542 R>G No ClinGen
gnomAD
rs757870946
CA168947031
542 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs757870946
CA168947032
542 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs757870946
CA4551903
542 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA369755067
rs1178308856
542 R>W No ClinGen
gnomAD
rs1297540506
CA369755086
544 E>* No ClinGen
TOPMed
rs929194417
CA168947033
545 E>G No ClinGen
gnomAD
rs1164803363
CA369755112
546 G>D No ClinGen
gnomAD

No associated diseases with Q6ZMS7

6 regional properties for Q6ZMS7

Type Name Position InterPro Accession
domain Krueppel-associated box 142 - 214 IPR001909
domain Ancestral KRAB domain 140 - 204 IPR003655
domain Zinc finger C2H2-type 349 - 376 IPR013087-1
domain Zinc finger C2H2-type 436 - 463 IPR013087-2
domain Zinc finger C2H2-type 466 - 493 IPR013087-3
domain Zinc finger C2H2-type 494 - 521 IPR013087-4

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.

4 GO annotations of molecular function

Name Definition
DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
identical protein binding Binding to an identical protein or proteins.
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 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
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
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
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
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
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
MAEAAPARDP ETDKHTEDQS PSTPLPQPAA EKNSYLYSTE ITLWTVVAAI QALEKKVDSC
70 80 90 100 110 120
LTRLLTLEGR TGTAEKKLAD CEKTAVEFGN QLEGKWAVLG TLLQEYGLLQ RRLENVENLL
130 140 150 160 170 180
RNRNFWILRL PPGSKGEAPK VPVTFDDVAV YFSELEWGKL EDWQKELYKH VMRGNYETLV
190 200 210 220 230 240
SLDYAISKPD ILTRIERGEE PCLDRWGQEK GNEVEVGRPR MMGTGLPPYP EHLTSPLSPA
250 260 270 280 290 300
QEELKEGQAP KQQQDSEARV APAGPEAGGG VAIKTEAQSE DEMTPERLFL GVSRGQTECR
310 320 330 340 350 360
IPRGPRNRPG GPSRHQAQGM PRVRAGEPRP PGASGETPRV LSRRRQRAFP CPDCGQSFRL
370 380 390 400 410 420
KINLTIHQRT HVEEGRQEAP GRSPTSCGDS QAMLEPGEVV VPGPVIRWLP EEPEGRRSVA
430 440 450 460 470 480
GGRALVGRRP AASKMYHCSE CLRFFQQRKS LLLHQRLHTG NGQGWPACPY CGKAFRRPSD
490 500 510 520 530 540
LFRHQRIHTG ERPYQCPQCG RTFNRNHHLA VHMQTHARGQ VGPHFPAAPA RHGSLPLPWP
SRKEEG