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 Q8N819

Entry ID Method Resolution Chain Position Source
AF-Q8N819-F1 Predicted AlphaFoldDB

403 variants for Q8N819

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1310575607
CA406364844
2 A>E No ClinGen
TOPMed
gnomAD
CA406364856
rs1310575607
2 A>V No ClinGen
TOPMed
gnomAD
rs560153447
CA308958985
4 L>P No ClinGen
1000Genomes
TOPMed
gnomAD
rs560153447
CA308958982
4 L>Q No ClinGen
1000Genomes
TOPMed
gnomAD
CA406364882
rs1599918456
5 A>P No ClinGen
Ensembl
CA406364891
rs1293917774
6 R>C No ClinGen
gnomAD
rs916679020
CA308958995
7 Q>P No ClinGen
TOPMed
TCGA novel 12 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406364978
rs1376305292
13 W>* No ClinGen
gnomAD
rs1046895718
CA308959002
13 W>R No ClinGen
TOPMed
gnomAD
rs1351191571
CA406364994
14 T>I No ClinGen
gnomAD
rs1599918495
CA406365011
16 C>G No ClinGen
Ensembl
CA406365060
rs1272601042
20 E>K No ClinGen
TOPMed
rs1179788052
CA406365074
21 R>K No ClinGen
gnomAD
rs894927524
CA308959005
22 E>Q No ClinGen
Ensembl
rs755239685
CA9516388
23 K>N No ClinGen
ExAC
gnomAD
rs1383313288
CA406365091
23 K>R No ClinGen
TOPMed
gnomAD
rs781064777
CA9516389
24 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs781064777
CA406365094
24 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA9516390
rs752849911
24 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA406365103
rs1418241279
25 G>R No ClinGen
TOPMed
gnomAD
CA308959014
rs1012405778
25 G>V No ClinGen
TOPMed
CA406365113
rs1158765931
26 R>M No ClinGen
gnomAD
CA406365126
rs1346159929
27 E>A No ClinGen
gnomAD
rs1346159929
CA406365127
27 E>G No ClinGen
gnomAD
TCGA novel 28 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9516393
rs757134648
29 E>A No ClinGen
ExAC
gnomAD
rs546634140
CA308959043
29 E>D No ClinGen
Ensembl
CA308959047
rs906667321
32 E>K No ClinGen
TOPMed
CA406365220
rs1301336753
33 E>D No ClinGen
TOPMed
gnomAD
TCGA novel 34 A>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406365241
rs1209366581
35 G>E No ClinGen
TOPMed
rs1453522837
CA406365252
36 R>H No ClinGen
gnomAD
rs1405409677
CA406365247
36 R>S No ClinGen
gnomAD
CA406365278
rs1346712990
38 A>V No ClinGen
gnomAD
CA308959058
rs1031237433
39 P>A No ClinGen
Ensembl
CA308959064
rs958258317
39 P>R No ClinGen
TOPMed
gnomAD
CA406365292
rs1486141557
40 E>K No ClinGen
gnomAD
CA406365326
rs1029401785
42 P>H No ClinGen
TOPMed
gnomAD
rs1029401785
CA308959083
42 P>R No ClinGen
TOPMed
gnomAD
CA308959080
rs1010936752
42 P>S No ClinGen
TOPMed
gnomAD
CA406365331
rs1318528441
43 R>G No ClinGen
TOPMed
gnomAD
rs1207558980
CA406365339
43 R>L No ClinGen
TOPMed
gnomAD
rs1207558980
CA406365335
43 R>Q No ClinGen
TOPMed
gnomAD
CA406365352
rs1461377921
44 S>C No ClinGen
TOPMed
gnomAD
rs1447671642
CA406365362
46 L>V No ClinGen
TOPMed
gnomAD
CA308959097
rs775186135
48 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs775186135
CA9516398
48 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA406365423
rs1235846913
51 R>C No ClinGen
TOPMed
gnomAD
rs762642299
CA9516400
51 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs762642299
CA308959106
51 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9516399
rs762642299
51 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1246235214
CA406365437
52 A>V No ClinGen
TOPMed
CA406365444
rs1409108960
53 Q>P No ClinGen
TOPMed
gnomAD
CA406365445
rs1409108960
53 Q>R No ClinGen
TOPMed
gnomAD
rs965159609
CA308959153
54 R>L No ClinGen
TOPMed
gnomAD
rs965159609
CA308959148
54 R>Q No ClinGen
TOPMed
gnomAD
CA308959145
rs796930766
54 R>W No ClinGen
TOPMed
gnomAD
CA406365482
rs1470337318
56 H>Q No ClinGen
gnomAD
rs1398205820
CA406365494
57 G>A No ClinGen
gnomAD
CA406365488
CA406365486
rs1338714558
57 G>R No ClinGen
TOPMed
gnomAD
rs1398205820
CA406365492
57 G>V No ClinGen
gnomAD
CA406365489
rs1338714558
57 G>W No ClinGen
TOPMed
gnomAD
rs1441331178
CA406365510
59 A>T No ClinGen
gnomAD
CA406365520
rs1298729212
59 A>V No ClinGen
gnomAD
CA9516402
rs775957063
61 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs768387279
CA9516401
61 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA308959157
rs775957063
61 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs768156817
CA308959178
63 G>E No ClinGen
TOPMed
gnomAD
rs931213459
CA308959179
64 G>C No ClinGen
TOPMed
CA308959180
rs1036356565
65 L>V No ClinGen
TOPMed
gnomAD
rs1255553421
CA406365586
66 R>S No ClinGen
gnomAD
rs773921468
CA9516405
68 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs773921468
CA9516406
68 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs564933218
CA9516404
68 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs564933218
CA406365613
68 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA406365636
rs1208678394
70 S>C No ClinGen
TOPMed
rs889297101
CA308959190
70 S>N No ClinGen
TOPMed
CA308959193
rs1046152586
70 S>R No ClinGen
Ensembl
rs1207810402
CA406365645
71 A>T No ClinGen
TOPMed
CA9516408
rs761258958
72 A>E No ClinGen
ExAC
gnomAD
CA9516407
rs766593409
72 A>T No ClinGen
ExAC
gnomAD
CA406365665
rs1429041618
74 G>D No ClinGen
TOPMed
gnomAD
rs1009439935
CA308959209
75 W>* No ClinGen
TOPMed
rs1599918841
CA406365674
75 W>C No ClinGen
Ensembl
CA9516409
rs759635018
75 W>R No ClinGen
ExAC
gnomAD
TCGA novel 76 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406365690
rs1171055961
78 R>H No ClinGen
gnomAD
rs1356271743
CA406365697
79 M>T No ClinGen
TOPMed
gnomAD
rs767800127
CA9516410
80 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs767800127
CA9516411
80 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA406365711
rs1302233812
81 D>A No ClinGen
gnomAD
rs1345949897
CA406365721
82 A>V No ClinGen
gnomAD
CA406365730
rs1217170322
83 H>Q No ClinGen
gnomAD
CA406365725
rs1369772983
83 H>R No ClinGen
gnomAD
rs906719671
CA308959217
83 H>Y No ClinGen
TOPMed
gnomAD
rs756223227
CA406365738
84 C>F No ClinGen
ExAC
gnomAD
rs756223227
CA9516412
84 C>Y No ClinGen
ExAC
gnomAD
CA9516413
rs531395481
85 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1214712324
CA406365752
85 T>I No ClinGen
gnomAD
CA308959230
rs531395481
85 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA308959236
rs868708939
88 S>* No ClinGen
Ensembl
TCGA novel 88 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9516415
rs758338565
91 G>S No ClinGen
ExAC
gnomAD
rs779676769
CA9516416
91 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA9516419
rs140525169
93 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140525169
CA9516418
93 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406365861
rs1261386742
94 P>L No ClinGen
gnomAD
rs1405984001
CA406365869
95 G>D No ClinGen
TOPMed
rs1168513041
CA406365865
95 G>S No ClinGen
TOPMed
gnomAD
CA406365877
rs1403500779
96 W>* No ClinGen
gnomAD
CA9516421
rs769485671
96 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs1162871639
CA406365890
97 A>D No ClinGen
gnomAD
TCGA novel 97 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406365885
rs1180238776
97 A>T No ClinGen
TOPMed
CA406365908
rs1426358167
98 L>F No ClinGen
gnomAD
TCGA novel 98 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772859617
CA9516422
99 F>V No ClinGen
ExAC
gnomAD
rs867811311
CA308959298
100 A>V No ClinGen
gnomAD
CA9516423
rs749745401
101 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771499218
CA9516424
102 L>F No ClinGen
ExAC
gnomAD
rs536276711
CA9516426
103 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA308959336
rs1010838702
104 G>S No ClinGen
TOPMed
gnomAD
CA308959346
rs1023942052
106 G>C No ClinGen
TOPMed
gnomAD
rs1023942052
CA406366007
106 G>S No ClinGen
TOPMed
gnomAD
CA406366014
rs1360614409
107 G>R No ClinGen
gnomAD
rs1225262407
CA406366025
108 A>D No ClinGen
TOPMed
gnomAD
CA406366023
rs1225262407
108 A>V No ClinGen
TOPMed
gnomAD
CA9516427
rs767600394
110 A>G No ClinGen
ExAC
gnomAD
rs1282617596
CA406366031
110 A>T No ClinGen
gnomAD
rs1194212247
CA406366040
111 A>V No ClinGen
gnomAD
rs1287108035
CA406366044
112 R>C No ClinGen
TOPMed
CA406366047
rs1410472342
112 R>L No ClinGen
gnomAD
CA406366067
rs1442904554
115 A>V No ClinGen
gnomAD
CA308959363
rs867252461
116 R>C No ClinGen
Ensembl
CA406366075
rs1437867315
117 H>Y No ClinGen
Ensembl
rs775753548
CA9516428
120 G>D No ClinGen
ExAC
gnomAD
CA406366094
rs1158905676
120 G>S No ClinGen
gnomAD
rs969255009
CA308959370
121 H>R No ClinGen
TOPMed
rs760903117
CA9516429
122 V>G No ClinGen
ExAC
gnomAD
CA9516430
rs764098018
124 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs867840607
CA308959382
126 L>M No ClinGen
Ensembl
rs1290145371
CA406366139
127 G>C No ClinGen
TOPMed
rs1290145371
CA406366137
127 G>R No ClinGen
TOPMed
rs553673397
CA9516431
128 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406366151
rs553673397
128 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406366149
rs553673397
128 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9516432
rs758283399
130 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA308959395
rs766389540
131 S>R No ClinGen
ExAC
gnomAD
rs1180617822
CA406366197
132 E>* No ClinGen
Ensembl
CA406366202
rs1384107887
132 E>G No ClinGen
gnomAD
CA308959399
rs9636110
134 E>K No ClinGen
gnomAD
CA308959403
rs1009001078
135 G>D No ClinGen
Ensembl
TCGA novel 136 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754870692
CA9516435
137 R>P No ClinGen
ExAC
CA406366262
rs1278110534
137 R>S No ClinGen
gnomAD
rs1350440899
CA406366274
138 E>* No ClinGen
gnomAD
rs1350440899
CA406366271
138 E>K No ClinGen
gnomAD
CA406366328
rs1437424706
142 R>L No ClinGen
TOPMed
rs1299466603
CA406366339
143 A>G No ClinGen
gnomAD
CA406366384
rs748825755
146 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1413266354
CA406366387
146 S>R No ClinGen
TOPMed
CA9516441
rs748825755
146 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA406366392
rs1446297746
147 A>S No ClinGen
gnomAD
CA308959444
rs962109102
148 D>E No ClinGen
TOPMed
gnomAD
CA9516442
rs771316597
148 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA406366414
rs1159934660
149 E>K No ClinGen
gnomAD
rs566483776
CA308959452
150 R>C No ClinGen
1000Genomes
gnomAD
CA308959455
rs962086898
150 R>L No ClinGen
TOPMed
CA9516444
rs746210970
155 W>* No ClinGen
ExAC
CA406366506
rs1407702273
156 P>L No ClinGen
gnomAD
CA406366512
rs1455008227
157 R>C No ClinGen
gnomAD
rs1489252425
CA406366524
158 V>L No ClinGen
TOPMed
CA406366563
rs1335511565
161 G>D No ClinGen
gnomAD
CA308959472
rs867121034
162 G>C No ClinGen
Ensembl
rs1240289068
CA406366576
162 G>D No ClinGen
gnomAD
CA308959486
rs944924901
163 C>* No ClinGen
TOPMed
rs910792664
CA308959484
163 C>Y No ClinGen
TOPMed
CA406366602
rs1272502478
164 T>M No ClinGen
gnomAD
rs867607378
CA308959498
165 A>D No ClinGen
gnomAD
rs1321598807
CA406366610
165 A>T No ClinGen
gnomAD
rs867607378
CA406366611
165 A>V No ClinGen
gnomAD
CA406366649
rs1193981800
CA406366648
168 L>F No ClinGen
gnomAD
rs1226462696
CA406366669
170 V>A No ClinGen
TOPMed
rs775839583
CA9516447
171 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs150454491
CA9516449
172 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776670960
CA406366701
173 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs776670960
CA9516450
173 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs761993103
CA9516451
178 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs984412961
CA308959511
178 A>T No ClinGen
Ensembl
rs761993103
CA406366731
178 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA406366745
rs1181898891
180 C>Y No ClinGen
gnomAD
CA9516454
rs754883852
181 G>D No ClinGen
ExAC
CA406366769
rs1250127440
184 R>C No ClinGen
TOPMed
gnomAD
rs1452237383
CA406366772
184 R>H No ClinGen
TOPMed
rs947689807
CA308959537
185 A>T No ClinGen
TOPMed
gnomAD
CA406366788
rs1344056272
187 L>R No ClinGen
gnomAD
CA406366790
rs1404513937
188 S>G No ClinGen
gnomAD
rs1284222149
CA406366795
188 S>R No ClinGen
gnomAD
CA406366812
rs1192646230
191 G>V No ClinGen
TOPMed
CA9516458
rs777614563
192 A>T No ClinGen
ExAC
gnomAD
rs1465097784
CA406366819
192 A>V No ClinGen
TOPMed
rs756856787
CA9516460
193 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA406366844
rs1490140274
196 S>R No ClinGen
TOPMed
gnomAD
CA9516462
rs578120365
196 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1171988459
CA406366852
198 E>K No ClinGen
gnomAD
TCGA novel 199 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772491110
CA9516465
201 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs772491110
CA406366876
201 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs747423933
CA9516466
203 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA9516468
rs540898027
204 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9516469
rs761787096
205 P>L No ClinGen
ExAC
gnomAD
rs905100796
CA308959598
205 P>S No ClinGen
TOPMed
CA9516471
rs773167267
206 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA9516472
rs759477358
207 E>Q No ClinGen
ExAC
gnomAD
CA308959606
rs947001120
208 R>H No ClinGen
gnomAD
CA9516473
rs367762624
209 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9516476
rs763831202
209 E>G No ClinGen
ExAC
gnomAD
CA9516474
rs367762624
209 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9516475
rs367762624
209 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753582259
CA9516477
210 R>G No ClinGen
ExAC
gnomAD
CA9516478
rs756868017
210 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1229494028
CA406366959
211 I>T No ClinGen
TOPMed
gnomAD
rs371865410
CA9516480
213 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1354174848
CA406367007
215 G>V No ClinGen
gnomAD
CA406367014
rs972148996
216 G>C No ClinGen
TOPMed
gnomAD
rs972148996
CA308959650
216 G>R No ClinGen
TOPMed
gnomAD
rs201185912
CA9516481
217 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA406367052
rs1204755474
219 R>C No ClinGen
gnomAD
rs747370604
CA9516485
219 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1484674015
CA406367060
220 R>S No ClinGen
TOPMed
rs1272795606
CA406367074
221 R>C No ClinGen
TOPMed
gnomAD
rs1205681543
CA406367092
222 R>L No ClinGen
TOPMed
rs769069283
CA9516486
223 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs376167471
CA9516488
224 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1568628512
CA406367139
226 S>F No ClinGen
Ensembl
CA9516490
rs769938620
227 L>M No ClinGen
ExAC
gnomAD
CA9516493
rs775630821
229 V>E No ClinGen
ExAC
gnomAD
rs1352017922
CA406367165
229 V>L No ClinGen
gnomAD
rs763921031
CA9516495
231 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA9516496
rs763921031
231 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA308959769
rs986529417
233 L>F No ClinGen
TOPMed
gnomAD
CA9516499
rs749917789
235 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs1419657596
CA406367230
235 D>H No ClinGen
TOPMed
gnomAD
CA406367234
rs1419657596
235 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs749917789
CA406367243
235 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA308959790
rs897953086
238 Y>* No ClinGen
Ensembl
rs369581966
CA9516501
239 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs944939081
CA308959819
240 E>D No ClinGen
TOPMed
gnomAD
CA406367330
rs1260986417
242 P>R No ClinGen
gnomAD
rs1241994448
CA406367340
244 R>K No ClinGen
gnomAD
CA9516505
rs748483620
245 P>L No ClinGen
ExAC
gnomAD
CA406367346
rs1461230385
245 P>S No ClinGen
gnomAD
CA9516506
rs756336763
246 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA406367376
rs1435033636
249 Q>K No ClinGen
TOPMed
gnomAD
rs369733369
CA308959843
252 S>Y No ClinGen
ESP
TOPMed
gnomAD
rs373499160
CA9516508
253 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1453222041
CA406367498
256 E>* No ClinGen
gnomAD
CA406367503
rs1304562993
256 E>G No ClinGen
gnomAD
rs562438795
CA308959875
257 V>A No ClinGen
1000Genomes
TOPMed
rs562438795
CA406367537
257 V>G No ClinGen
1000Genomes
TOPMed
rs893546190
CA308959884
258 A>G No ClinGen
TOPMed
rs1330693403
CA406367595
261 A>S No ClinGen
TOPMed
gnomAD
rs1330693403
CA406367591
261 A>T No ClinGen
TOPMed
gnomAD
CA9516516
rs375570529
262 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762609165
CA9516518
263 Q>H No ClinGen
ExAC
gnomAD
CA9516517
rs368962610
263 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1023997808
CA308959934
265 E>K No ClinGen
Ensembl
CA9516519
rs765810755
266 D>N No ClinGen
ExAC
rs751099313
CA9516520
267 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA406367763
rs1568628628
268 F>L No ClinGen
Ensembl
CA9516521
rs777791403
268 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA9516523
CA9516522
CA406367795
rs372837632
269 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406367805
rs1251688866
270 L>P No ClinGen
gnomAD
CA406367834
rs1271971939
272 A>G No ClinGen
gnomAD
CA406367828
rs1428656122
272 A>P No ClinGen
gnomAD
CA406367843
rs1470366783
273 S>F No ClinGen
gnomAD
rs1352750949
CA406367942
277 W>* No ClinGen
gnomAD
CA406367955
rs1227796579
277 W>C No ClinGen
TOPMed
gnomAD
rs1352750949
CA406367939
277 W>L No ClinGen
gnomAD
CA9516526
rs191046425
278 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406367981
rs1159850737
279 T>I No ClinGen
TOPMed
CA9516529
rs779089535
281 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA406368034
rs1345593012
283 A>T No ClinGen
gnomAD
CA406368059
rs1599919799
284 A>G No ClinGen
Ensembl
CA9516531
rs143040880
285 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1437454564
CA406368076
285 L>P No ClinGen
TOPMed
CA406368089
rs1204473383
286 A>V No ClinGen
TOPMed
gnomAD
CA406368119
rs1275731840
287 G>E No ClinGen
gnomAD
rs1599919834
CA406368162
290 A>P No ClinGen
Ensembl
CA406368216
rs1480797094
293 L>I No ClinGen
gnomAD
rs762551088
CA9516536
294 R>H No ClinGen
ExAC
gnomAD
rs762551088
CA406368246
294 R>P No ClinGen
ExAC
gnomAD
CA406368263
rs375340857
295 L>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9516538
rs375340857
295 L>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA308959998
rs987856231
296 G>A No ClinGen
TOPMed
gnomAD
CA406368269
rs1171116831
296 G>C No ClinGen
TOPMed
gnomAD
rs987856231
CA406368277
296 G>D No ClinGen
TOPMed
gnomAD
CA406368266
rs1171116831
296 G>S No ClinGen
TOPMed
gnomAD
rs759087768
CA9516539
298 A>P No ClinGen
ExAC
gnomAD
rs759087768
CA406368299
298 A>S No ClinGen
ExAC
gnomAD
CA9516540
rs768060161
299 P>L No ClinGen
ExAC
gnomAD
TCGA novel 300 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs377662130
CA308960018
301 L>V No ClinGen
ESP
TOPMed
rs1448287065
CA406368351
302 L>R No ClinGen
gnomAD
TCGA novel 303 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA308960026
rs1018039420
303 C>Y No ClinGen
TOPMed
CA9516544
rs754279584
305 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA406368367
rs1599919905
305 Q>P No ClinGen
Ensembl
rs201797541
CA9516545
307 L>W No ClinGen
1000Genomes
ExAC
gnomAD
rs1344754674
CA406368400
310 C>Y No ClinGen
gnomAD
rs1220795768
CA406368408
311 L>P No ClinGen
gnomAD
CA9516608
rs1184669236
317 D>N No ClinGen
TOPMed
CA9516610
rs766505464
319 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1389492140
CA406368922
321 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA406368932
rs1437156910
322 I>L No ClinGen
gnomAD
TCGA novel 324 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs909177690
CA308960838
324 V>I No ClinGen
Ensembl
CA406368975
rs1378171922
325 C>S No ClinGen
gnomAD
CA9516612
rs143915607
327 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA308960853
rs547238839
328 G>R No ClinGen
1000Genomes
CA406369039
rs1237920461
329 A>G No ClinGen
gnomAD
CA406369028
rs1314697086
329 A>S No ClinGen
TOPMed
gnomAD
CA406369044
rs1278529094
330 P>S No ClinGen
TOPMed
CA406369064
rs1330665576
331 R>S No ClinGen
TOPMed
gnomAD
CA406369099
rs1211119840
334 E>D No ClinGen
gnomAD
rs61741081
CA9516614
336 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406369149
rs1599920535
337 I>T No ClinGen
Ensembl
rs1182736939
CA406369158
338 R>K No ClinGen
gnomAD
CA308960891
rs1056300933
342 A>P No ClinGen
Ensembl
rs906099926
CA308960894
342 A>V No ClinGen
TOPMed
gnomAD
CA9516616
rs765201209
345 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA406369206
rs1174173304
346 A>D No ClinGen
gnomAD
CA406369203
rs1458951432
346 A>T No ClinGen
gnomAD
CA406369218
rs1466495470
348 G>A No ClinGen
gnomAD
rs750183752
CA9516617
348 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA406369229
rs1408410267
350 R>K No ClinGen
gnomAD
rs779731684
CA9516619
352 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs779731684
CA406369241
352 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs746610280
CA9516620
353 E>K No ClinGen
ExAC
gnomAD
rs201720240
CA9516629
355 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760813077
CA9516632
359 Q>* No ClinGen
ExAC
gnomAD
rs1448793357
CA406369300
359 Q>R No ClinGen
gnomAD
CA406369314
rs765073032
361 P>H No ClinGen
ExAC
gnomAD
CA9516633
rs765073032
361 P>L No ClinGen
ExAC
gnomAD
rs1006323354
CA308961246
361 P>S No ClinGen
TOPMed
rs867563942
CA308961251
362 P>L No ClinGen
Ensembl
CA406369318
rs1422334034
362 P>S No ClinGen
gnomAD
rs1168946256 363 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1322518550
CA406369322
363 S>G No ClinGen
gnomAD
CA9516635
rs762803985
363 S>R No ClinGen
ExAC
gnomAD
CA9516634
rs750318081
363 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA308961287
rs1015952284
365 N>Y No ClinGen
TOPMed
gnomAD
CA406369365
rs1226793712
369 R>S No ClinGen
gnomAD
CA9516640
rs752247804
372 A>T No ClinGen
ExAC
gnomAD
TCGA novel 373 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA308961326
rs974641315
375 D>E No ClinGen
TOPMed
gnomAD
rs755739966
CA9516641
376 I>T No ClinGen
ExAC
gnomAD
rs200458133
CA9516642
377 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200458133
CA308961331
377 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1343719526
CA406369418
378 D>V No ClinGen
TOPMed
rs1270297684
CA406369428
380 P>T No ClinGen
TOPMed
rs749736288
CA9516643
382 G>E No ClinGen
ExAC
gnomAD
CA406369444
rs749736288
382 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1442615774
CA406369448
383 G>E No ClinGen
gnomAD
rs1442615774
CA406369450
383 G>V No ClinGen
gnomAD
rs1406745857
CA406369455
384 G>A No ClinGen
gnomAD
CA406369454
rs1406745857
384 G>E No ClinGen
gnomAD
rs1414001952
CA406369453
384 G>R No ClinGen
gnomAD
CA406369476
rs901640440
387 C>* No ClinGen
TOPMed
CA406369472
rs1156267927
387 C>G No ClinGen
TOPMed
gnomAD
rs1156267927
CA406369471
387 C>R No ClinGen
TOPMed
gnomAD
rs376371652
CA406369482
388 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376371652
CA9516644
388 K>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406369520
rs1337354321
390 T>S No ClinGen
TOPMed
rs1279046611
CA406369523
391 V>F No ClinGen
gnomAD
CA9516664
rs753309267
394 E>G No ClinGen
ExAC
gnomAD
rs1183661548
CA406369636
400 C>W No ClinGen
gnomAD
CA9516665
rs757759285
401 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs1047210261
CA308961524
402 V>I No ClinGen
TOPMed
rs1172543402
CA406369674
403 S>L No ClinGen
gnomAD
rs1310866924
CA406369682
404 E>A No ClinGen
TOPMed
CA406369722
rs779326193
406 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA406369725
rs779326193
406 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs913741762
CA308961543
406 C>Y No ClinGen
gnomAD
rs372097234
CA9516667
407 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772366695
CA9516668
407 G>V No ClinGen
ExAC
gnomAD
rs1417962807
CA406369750
408 E>D No ClinGen
TOPMed
CA9516670
rs747192830
408 E>G No ClinGen
ExAC
gnomAD
CA308962594
rs945805908
412 D>G No ClinGen
TOPMed
gnomAD
CA308962597
rs558073487
413 G>E No ClinGen
TOPMed
gnomAD
rs755198942
CA9516690
416 K>* No ClinGen
ExAC
gnomAD
rs1360733747
CA406370550
416 K>N No ClinGen
TOPMed
rs769702375
CA9516693
420 T>K No ClinGen
ExAC
gnomAD
rs769702375
CA406370646
420 T>M No ClinGen
ExAC
gnomAD
CA9516692
rs748243582
420 T>P No ClinGen
ExAC
gnomAD
rs199663044
CA9516696
423 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199663044
CA9516695
423 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA308962614
rs935643223
424 S>L No ClinGen
TOPMed
CA9516699
rs775401829
427 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1366879994
CA406370797
428 M>T No ClinGen
gnomAD
rs1457600325
CA406370813
429 E>G No ClinGen
gnomAD
CA9516700
rs760426245
430 A>S No ClinGen
ExAC
gnomAD

No associated diseases with Q8N819

2 regional properties for Q8N819

Type Name Position InterPro Accession
domain PPM-type phosphatase-like domain 56 - 326 IPR001932
domain Protein serine/threonine phosphatase 2C, C-terminal 320 - 396 IPR012911

Functions

Description
EC Number 3.1.3.16 Phosphoric monoester hydrolases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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
magnesium ion binding Binding to a magnesium (Mg) ion.
manganese ion binding Binding to a manganese ion (Mn).
myosin phosphatase activity Catalysis of the reaction: phosphomyosin + H2O = myosin + phosphate.
protein serine/threonine phosphatase activity Catalysis of the reaction: protein serine phosphate + H2O = protein serine + phosphate, and protein threonine phosphate + H2O = protein threonine + phosphate.

3 GO annotations of biological process

Name Definition
negative regulation of I-kappaB kinase/NF-kappaB signaling Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling.
peptidyl-threonine dephosphorylation The removal of phosphoric residues from peptidyl-O-phospho-L-threonine to form peptidyl-threonine.
positive regulation of canonical Wnt signaling pathway Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.

23 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O15297 PPM1D Protein phosphatase 1D Homo sapiens (Human) PR
Q7XHN8 Os07g0114000 Probable protein phosphatase 2C 61 Oryza sativa subsp japonica (Rice) PR
Q2QN36 Os12g0580900 Probable protein phosphatase 2C 78 Oryza sativa subsp japonica (Rice) PR
Q6ZHC8 Os02g0685600 Probable protein phosphatase 2C 25 Oryza sativa subsp japonica (Rice) PR
Q6ZKL8 Os08g0500300 Probable protein phosphatase 2C 66 Oryza sativa subsp japonica (Rice) PR
Q7XW27 Os04g0321800 Probable protein phosphatase 2C 38 Oryza sativa subsp japonica (Rice) PR
Q5SN75 Os01g0656200 Probable protein phosphatase 2C 8 Oryza sativa subsp japonica (Rice) PR
Q6L482 Os05g0358500 Probable protein phosphatase 2C 48 Oryza sativa subsp japonica (Rice) PR
Q6L4R7 PP2C53 Protein phosphatase 2C 53 Oryza sativa subsp japonica (Rice) PR
Q0JLP9 PP2C06 Probable protein phosphatase 2C 6 Oryza sativa subsp japonica (Rice) PR
O81760 PP2C63 Probable protein phosphatase 2C 63 Arabidopsis thaliana (Mouse-ear cress) PR
Q501F9 PP2C67 Probable protein phosphatase 2C 67 Arabidopsis thaliana (Mouse-ear cress) PR
Q94CL8 PP2C6 Probable protein phosphatase 2C 48 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LHJ9 PP2C38 Probable protein phosphatase 2C 38 Arabidopsis thaliana (Mouse-ear cress) PR
Q8GY60 At4g03415 Probable protein phosphatase 2C 52 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FG61 At5g36250 Probable protein phosphatase 2C 74 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FIF5 SAG113 Probable protein phosphatase 2C 78 Arabidopsis thaliana (Mouse-ear cress) PR
Q8VZN9 At1g43900 Probable protein phosphatase 2C 11 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LNP9 HAB2 Protein phosphatase 2C 7 Arabidopsis thaliana (Mouse-ear cress) PR
O04719 ABI2 Protein phosphatase 2C 77 Arabidopsis thaliana (Mouse-ear cress) PR
Q9CAJ0 HAB1 Protein phosphatase 2C 16 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LRZ4 At3g16800 Probable protein phosphatase 2C 41 Arabidopsis thaliana (Mouse-ear cress) PR
Q84JD5 PP2C68 Probable protein phosphatase 2C 68 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MAVLARQLQR LLWTACKKKE REKEGREEEE EEEAGRRAPE GPRSLLTAPR RAQRPHGGAE
70 80 90 100 110 120
ASGGLRFGAS AAQGWRARME DAHCTWLSLP GLPPGWALFA VLDGHGGARA ARFGARHLPG
130 140 150 160 170 180
HVLQELGPEP SEPEGVREAL RRAFLSADER LRSLWPRVET GGCTAVVLLV SPRFLYLAHC
190 200 210 220 230 240
GDSRAVLSRA GAVAFSTEDH RPLRPRERER IHAAGGTIRR RRVEGSLAVS RALGDFTYKE
250 260 270 280 290 300
APGRPPELQL VSAEPEVAAL ARQAEDEFML LASDGVWDTV SGAALAGLVA SRLRLGLAPE
310 320 330 340 350 360
LLCAQLLDTC LCKGSLDNMT CILVCFPGAP RPSEEAIRRE LALDAALGCR IAELCASAQK
370 380 390 400 410 420
PPSLNTVFRT LASEDIPDLP PGGGLDCKAT VIAEVYSQIC QVSEECGEKG QDGAGKSNPT
HLGSALDMEA