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 Q9NTI7

Entry ID Method Resolution Chain Position Source
AF-Q9NTI7-F1 Predicted AlphaFoldDB

256 variants for Q9NTI7

Variant ID(s) Position Change Description Diseaes Association Provenance
CA1006625
rs779617617
2 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA341633546
rs1169423012
3 M>I No ClinGen
TOPMed
rs749901390
CA1006623
6 R>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 6 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1006620
rs764184754
9 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs764184754
CA1006619
9 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs756832621
CA1006621
9 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1436215725
CA341633498
10 C>Y No ClinGen
TOPMed
rs1273529192
CA341633489
11 Y>C No ClinGen
TOPMed
rs1188621345
CA341633474
13 R>H No ClinGen
TOPMed
gnomAD
CA341633476
rs1188621345
13 R>L No ClinGen
TOPMed
gnomAD
CA341633469
rs1446985862
14 R>P No ClinGen
gnomAD
rs752544051
CA1006617
16 K>E No ClinGen
ExAC
gnomAD
CA341633458
COSM893875
rs1571596591
16 K>R endometrium [Cosmic] No ClinGen
cosmic curated
Ensembl
CA1006615
rs141241151
18 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341633445
rs1488978771
18 E>Q No ClinGen
gnomAD
CA341633436
rs1324763263
19 L>P No ClinGen
TOPMed
gnomAD
CA341633438
rs1244792336
19 L>V No ClinGen
gnomAD
rs746461949
CA1006585
20 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs370379166
CA1006586
20 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1006584
rs777443274
22 M>T No ClinGen
ExAC
gnomAD
rs1208150490
CA341641329
23 K>Q No ClinGen
TOPMed
CA341641308
rs1275439894
24 E>K No ClinGen
gnomAD
rs779057031
CA1006581
30 Q>R No ClinGen
ExAC
gnomAD
CA1006580
rs373131514
33 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766474863
CA1006578
35 C>* No ClinGen
ExAC
gnomAD
CA1006577
rs756385584
36 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA341641131
rs756385584
36 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1426703311
CA341641095
37 M>I No ClinGen
gnomAD
CA28891907
rs969551656
37 M>K No ClinGen
Ensembl
rs1416598417
CA341641111
37 M>L No ClinGen
gnomAD
CA341641086
rs1172607134
38 G>S No ClinGen
gnomAD
TCGA novel 39 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1006576
rs750694210
40 L>P No ClinGen
ExAC
gnomAD
rs1156301482
CA341641053
41 Q>* No ClinGen
TOPMed
CA341641020
rs1458040052
42 E>G No ClinGen
gnomAD
COSM893873
CA341641039
rs1180353240
42 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1201699067
CA341640976
45 L>F No ClinGen
TOPMed
gnomAD
CA341640958
rs1313838884
46 L>H No ClinGen
gnomAD
CA1006574
rs761949517
48 V>L No ClinGen
ExAC
gnomAD
rs1311735015
CA341640911
49 Q>H No ClinGen
gnomAD
CA341640913
rs1348856670
49 Q>R No ClinGen
gnomAD
CA1006573
rs752046956
50 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA1006572
rs764672851
54 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1022682939
CA28891868
60 G>R No ClinGen
Ensembl
rs202217076
CA28891863
61 G>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA341640730
rs1334290946
63 V>L No ClinGen
gnomAD
CA341640710
rs1378165479
64 P>S No ClinGen
gnomAD
rs1336846599
CA341640699
65 G>S No ClinGen
TOPMed
CA341640685
rs1439859118
66 S>I No ClinGen
gnomAD
CA1006570
rs775954366
66 S>R No ClinGen
ExAC
gnomAD
CA341640665
rs1384408956
67 P>L No ClinGen
gnomAD
CA1006569
rs143162290
68 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1006568
rs760349464
69 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs1237950993
CA341640603
71 R>S No ClinGen
gnomAD
CA1006566
rs771701834
75 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA341640534
rs1197314121
76 H>Y No ClinGen
TOPMed
rs531482804
CA1006564
78 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs531482804
CA28891771
78 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs866041475
CA28891755
79 W>* No ClinGen
Ensembl
rs1230358614
CA341640485
80 E>K No ClinGen
gnomAD
rs1230358614
CA341640487
80 E>Q No ClinGen
gnomAD
CA28891748
rs1006595142
81 G>C No ClinGen
TOPMed
rs768675152
CA1006563
86 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs748990798
CA1006562
89 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1174780355
CA341640257
92 S>F No ClinGen
TOPMed
CA341640249
rs1419949718
93 P>A No ClinGen
gnomAD
CA1006561
rs779876709
93 P>L No ClinGen
ExAC
gnomAD
rs1375540597
CA341640219
95 S>R No ClinGen
TOPMed
rs1414518180
CA341640163
98 S>P No ClinGen
TOPMed
gnomAD
TCGA novel 99 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371292774
CA1006559
101 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341640113
rs1265465982
101 S>R No ClinGen
gnomAD
CA341640099
rs1217405304
102 S>N No ClinGen
gnomAD
rs1571589837
CA341640087
103 T>P No ClinGen
Ensembl
rs1431089104
CA341640070
104 K>Q No ClinGen
TOPMed
gnomAD
rs1490259383
CA341640046
105 F>L No ClinGen
gnomAD
CA341640011
rs1392952911
107 S>Y No ClinGen
gnomAD
CA1006558
rs781453283
110 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA341639963
rs781453283
110 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1347973212
CA341639957
111 V>I No ClinGen
TOPMed
CA28891670
rs80140747
115 D>G No ClinGen
Ensembl
rs145633487
CA1006557
118 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1322715589
CA341639857
118 P>S No ClinGen
gnomAD
CA1006555
rs764467945
120 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA341639820
TCGA novel
rs1400046356
121 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA1006554
rs376399692
121 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341639815
rs1344545291
121 R>T No ClinGen
gnomAD
CA1006553
rs753190443
123 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs765602502
CA1006552
125 H>N No ClinGen
ExAC
gnomAD
CA341639711
rs1480143794
128 C>Y No ClinGen
gnomAD
CA1006549
rs771859200
132 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs772982701
CA1006550
132 G>R No ClinGen
ExAC
gnomAD
CA1006546
rs145067004
135 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1006544
rs199666460
135 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769619836
CA1006543
138 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA341639553
rs1557908584
139 D>G No ClinGen
Ensembl
rs1167149068
CA341639520
141 W>* No ClinGen
TOPMed
CA28891501
rs925490875
141 W>L No ClinGen
Ensembl
CA341639517
rs1201406661
142 T>A No ClinGen
gnomAD
CA341639518
rs1201406661
142 T>P No ClinGen
gnomAD
rs868792785
CA28891497
143 S>F No ClinGen
Ensembl
rs141026018
CA1006540
144 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1571589688
CA341639498
144 T>P No ClinGen
Ensembl
CA341639471
rs1296505439
146 M>I No ClinGen
TOPMed
CA341639475
rs777883892
146 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA1006537
rs777883892
146 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA1006536
rs529338359
147 S>Y No ClinGen
ExAC
gnomAD
rs142952172
CA1006534
148 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341639454
rs142952172
148 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1006533
rs142952172
148 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778981316
CA28891452
148 R>W No ClinGen
TOPMed
gnomAD
TCGA novel 149 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1316959367
CA341639446
149 G>D No ClinGen
TOPMed
rs374661986
CA1006530
150 R>G No ClinGen
ESP
ExAC
gnomAD
rs773915828
CA1006529
150 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs374661986
CA1006531
150 R>W No ClinGen
ESP
ExAC
gnomAD
rs267597925
CA28891412
COSM893870
152 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs373194330
CA1006527
152 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373194330
CA28891403
152 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341639417
rs1205225505
153 Q>E No ClinGen
TOPMed
CA341639407
rs775441583
153 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA1006524
rs756332197
158 G>E No ClinGen
ExAC
gnomAD
rs770762076
CA1006522
159 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA28891356
rs567520346
160 N>D No ClinGen
Ensembl
rs376225653
CA1006520
COSM423458
161 V>I Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1304699123
CA341639272
164 D>E No ClinGen
gnomAD
rs758489520
CA1006519
164 D>N No ClinGen
ExAC
gnomAD
CA341639246
rs1557908482
167 G>R No ClinGen
Ensembl
rs1557908478
CA341639221
168 N>S No ClinGen
Ensembl
COSM1198425
rs779438654
CA1006517
169 W>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs781528757
CA28891322
173 P>Q No ClinGen
TOPMed
CA1006516
rs755567208
173 P>T No ClinGen
ExAC
gnomAD
rs1321345188
CA341639140
174 E>K No ClinGen
TOPMed
TCGA novel 176 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341639092
rs1388151537
177 K>R No ClinGen
TOPMed
rs1441239950
CA341639058
179 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs766824312
CA1006513
180 E>Q No ClinGen
ExAC
gnomAD
CA341639027
rs1483299518
181 K>N No ClinGen
gnomAD
rs756614102
CA1006512
181 K>T No ClinGen
ExAC
gnomAD
CA1006511
rs751212229
182 G>S No ClinGen
ExAC
gnomAD
CA1006510
rs763667741
183 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs202157291
CA341638978
185 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1006507
rs202157291
185 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA341638981
rs147968487
CA1006508
185 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1006509
rs147968487
185 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776587023
CA1006505
186 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs751997684 187 A>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs751997684 187 A>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA341638952
rs1384351247
187 A>T No ClinGen
TOPMed
gnomAD
CA341638934
rs772217983
188 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1006499
rs772217983
188 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA1006498
COSM1560097
rs371956554
188 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 189 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779118033
CA1006497
189 E>G No ClinGen
ExAC
gnomAD
rs1163421084
CA341638928
189 E>K No ClinGen
gnomAD
rs755153278
CA1006496
195 G>D No ClinGen
ExAC
gnomAD
CA341638832
rs1557908404
196 Q>E No ClinGen
Ensembl
rs749808777
CA1006495
197 P>L No ClinGen
ExAC
gnomAD
CA341638794
rs1557908395
198 Q>R No ClinGen
Ensembl
rs562140489
CA1006494
199 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA341638756
rs1557908385
201 G>D No ClinGen
Ensembl
CA1006493
rs543906848
202 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs751736006
CA1006492
202 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA28891110
rs112513430
203 R>G No ClinGen
gnomAD
CA1006490
rs197434
204 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 205 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1006488
rs764694872
205 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA341638707
rs764694872
205 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA341638674
rs1266917083
208 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs759108603
CA1006487
210 I>M No ClinGen
ExAC
gnomAD
CA341638584
rs1338874348
214 F>V No ClinGen
TOPMed
rs141928251
CA341638534
216 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139428718
CA1006484
216 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1006485
rs141928251
216 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 217 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1006483
rs772906395
217 S>T No ClinGen
ExAC
gnomAD
CA1006480
rs199796927
219 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761913751
CA1006481
219 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs768843965
CA1006479
222 R>G No ClinGen
ExAC
gnomAD
rs373660885
CA1006478
222 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1224843408
CA341638399
224 R>Q No ClinGen
TOPMed
rs780642863
CA1006477
224 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs770237328
CA341638381
226 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1209825822
CA341638374
226 L>P No ClinGen
TOPMed
TCGA novel 229 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1190964897
CA341638305
231 G>R No ClinGen
gnomAD
CA1006474
rs781388407
232 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA1006475
rs746193336
232 W>R No ClinGen
ExAC
gnomAD
CA341638269
rs1571589364
233 V>G No ClinGen
Ensembl
CA1006472
rs199713597
233 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1006473
rs199713597
233 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1006471
rs199986760
235 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1006470
rs754424975
236 M>I No ClinGen
ExAC
gnomAD
rs1557908273
CA341638225
237 V>I No ClinGen
Ensembl
CA1006469
rs201410445
238 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1256065444
COSM1491625
CA341638203
239 E>K kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA341638176
rs201867839
240 S>F No ClinGen
gnomAD
CA28890985
rs200242479
240 S>T No ClinGen
gnomAD
rs201867839
CA28890973
240 S>Y No ClinGen
gnomAD
CA1006467
rs533938052
241 R>* No ClinGen
1000Genomes
ExAC
gnomAD
rs750418454
CA1006466
241 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA341638157
rs1571589315
242 T>P No ClinGen
Ensembl
rs149166258
CA1006464
243 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774657384
CA1006463
244 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1006462
rs769005492
244 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774657384
CA341638132
244 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA341638108
rs1423754829
245 S>L No ClinGen
gnomAD
CA341638103
rs1476864685
246 Q>E No ClinGen
TOPMed
gnomAD
CA341638095
rs146284231
246 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1006459
rs146284231
246 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1274975411
CA341638075
248 V>F No ClinGen
TOPMed
CA341638070
rs1571589267
248 V>G No ClinGen
Ensembl
rs781756669
CA1006457
251 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs746329340
CA341638036
251 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1006456
rs201711071
252 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341638021
CA1006455
rs747384854
252 S>R No ClinGen
ExAC
gnomAD
rs948036512
CA28890911
256 G>D No ClinGen
TOPMed
CA28890912
rs374920750
256 G>S No ClinGen
TOPMed
gnomAD
CA341637942
rs916564929
263 P>A No ClinGen
TOPMed
gnomAD
rs916564929
CA28890889
263 P>S No ClinGen
TOPMed
gnomAD
CA1006447
rs185732568
266 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs371003046
CA1006446
267 E>Q No ClinGen
ESP
ExAC
gnomAD
rs1167774937
CA341637907
268 H>Q No ClinGen
TOPMed
CA1006444
COSM201275
rs560783748
270 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA1006443
rs763243478
270 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA341637894
rs1173882817
271 G>W No ClinGen
gnomAD
CA1006442
rs775894139
272 E>G No ClinGen
ExAC
gnomAD
rs1378278781
CA341637876
273 N>K No ClinGen
gnomAD
rs1440285665
CA341637864
275 P>L No ClinGen
gnomAD
CA1006437
rs771470532
276 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA28890833
rs928346948
276 T>P No ClinGen
Ensembl
rs759002690 276 T>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA1006436
rs747331820
277 S>R No ClinGen
ExAC
gnomAD
rs965580113
CA28890825
278 C>R No ClinGen
TOPMed
gnomAD
CA1006435
rs773546549
278 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA1006434
rs772468594
279 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA341637837
rs1291241815
280 K>R No ClinGen
TOPMed
rs748938881
CA1006432
282 L>V No ClinGen
ExAC
gnomAD
rs1450729925
CA341637819
283 E>G No ClinGen
TOPMed
gnomAD
CA341637811
rs1557908100
284 H>R No ClinGen
Ensembl
rs1187381057
CA341637802
285 S>L No ClinGen
gnomAD
rs1312899005
CA341637797
286 P>R No ClinGen
gnomAD
CA341637800
rs1360420424
286 P>T No ClinGen
TOPMed
gnomAD
rs112881255
COSM1294726
CA28890773
287 S>L Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA1006430
rs540360673
287 S>P No ClinGen
1000Genomes
ExAC
gnomAD
CA28890765
rs912269371
288 G>E No ClinGen
TOPMed
gnomAD
CA1006429
rs755521337
289 F>S No ClinGen
ExAC
gnomAD
CA341637775
rs1396049532
290 D>G No ClinGen
TOPMed
rs1396049532
CA341637774
290 D>V No ClinGen
TOPMed
CA1006428
rs745388675
291 I>V No ClinGen
ExAC
gnomAD
rs1180055100
CA341637752
293 T>I No ClinGen
gnomAD
CA1006426
rs757284319
294 A>V No ClinGen
ExAC
gnomAD
rs758334663
CA1006423
295 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA1006424
rs376544641
295 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341637746
rs376544641
295 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q9NTI7

1 regional properties for Q9NTI7

Type Name Position InterPro Accession
domain FAM212 domain 120 - 175 IPR029267

Functions

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

2 GO annotations of cellular component

Name Definition
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.

2 GO annotations of molecular function

Name Definition
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine/threonine kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a protein serine/threonine kinase.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MTMESREMDC YLRRLKQELM SMKEVGDGLQ DQMNCMMGAL QELKLLQVQT ALEQLEISGG
70 80 90 100 110 120
GPVPGSPEGP RTQCEHPCWE GGRGPARPTV CSPSSQPSLG SSTKFPSHRS VCGRDLAPLP
130 140 150 160 170 180
RTQPHQSCAQ QGPERVEPDD WTSTLMSRGR NRQPLVLGDN VFADLVGNWL DLPELEKGGE
190 200 210 220 230 240
KGETGGAREP KGEKGQPQEL GRRFALTANI FKKFLRSVRP DRDRLLKEKP GWVTPMVPES
250 260 270 280 290
RTGRSQKVKK RSLSKGSGHF PFPGTGEHRR GENPPTSCPK ALEHSPSGFD INTAVWV