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 Q9NWT1

Entry ID Method Resolution Chain Position Source
AF-Q9NWT1-F1 Predicted AlphaFoldDB

321 variants for Q9NWT1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1189481622
CA362712472
3 L>V No ClinGen
TOPMed
rs763848894
CA3632570
4 V>F No ExAC
gnomAD
ClinGen
rs757088413
CA362712481
5 A>P No ExAC
TOPMed
gnomAD
ClinGen
rs757088413
CA3632572
5 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs200871118
CA3632573
6 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs1361731562
CA362712505
CA362712506
8 Y>* No gnomAD
ClinGen
CA362712513
rs1182004409
9 E>D No ClinGen
gnomAD
rs371781516
CA3632574
9 E>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs371781516
CA362712507
9 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756176747
CA3632575
10 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs376060945
CA134112960
10 Q>H No ESP
TOPMed
ClinGen
CA362712521
rs1299991263
11 V>I No ClinGen
TOPMed
rs915535382
CA134112969
13 F>C No TOPMed
gnomAD
ClinGen
rs915535382
CA362712534
13 F>S No ClinGen
TOPMed
gnomAD
CA3632576
rs780256684
13 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA134112965
rs915535382
13 F>Y No ClinGen
TOPMed
gnomAD
rs1467643460
CA362712542
14 G>V No gnomAD
ClinGen
CA362712558
rs1171955323
17 V>L No gnomAD
ClinGen
CA3632577
rs749417108
18 H>Y No ClinGen
ExAC
gnomAD
CA362712581
rs1331835439
20 E>A No ClinGen
TOPMed
gnomAD
rs1341888426
CA362712582
20 E>D No ClinGen
gnomAD
rs774651899
CA3632579
21 P>L No ClinGen
ExAC
gnomAD
rs1448195071
CA362712585
21 P>S No ClinGen
gnomAD
rs772493979
CA3632582
22 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3632583
rs761160420
24 C>F No ExAC
gnomAD
ClinGen
TCGA novel 24 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362712618
rs1339009310
26 D>G No ClinGen
TOPMed
rs1198486289
CA362712615
26 D>N No gnomAD
ClinGen
TCGA novel
rs1008791325
CA134114205
30 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
NCI-TCGA
ClinGen
CA3632604
rs777145719
31 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA362712725
rs777145719
31 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA362712737
rs1381378465
33 V>E No ClinGen
gnomAD
TCGA novel 33 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362712748
rs1385034760
35 D>G No gnomAD
ClinGen
CA362712752
rs1325385485
36 F>I No gnomAD
ClinGen
CA3632605
rs369987329
36 F>L No ESP
ExAC
gnomAD
ClinGen
TCGA novel 36 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3632606
rs768207218
38 H>Y No ClinGen
ExAC
gnomAD
rs1027730861
COSM1672234
CA134114235
43 A>T prostate [Cosmic] No Ensembl
ClinGen
cosmic curated
CA3632610
rs370701797
48 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs946134331
CA362712835
49 A>P No TOPMed
gnomAD
ClinGen
rs946134331
CA134114257
49 A>T No TOPMed
gnomAD
ClinGen
rs1437657134
CA362712842
50 V>I No ClinGen
gnomAD
CA362712857
rs1177158343
52 S>N No ClinGen
gnomAD
rs1581580007
CA362712862
53 R>C No Ensembl
ClinGen
CA134114259
rs1041702774
53 R>H No TOPMed
gnomAD
ClinGen
CA362712865
rs1041702774
53 R>P No TOPMed
gnomAD
ClinGen
rs1158757669
CA362712877
55 V>L No ClinGen
TOPMed
rs1158809032
CA362712882
56 V>L No ClinGen
gnomAD
TCGA novel 58 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362712913
rs1183140580
60 K>N No TOPMed
ClinGen
CA3632613
rs139672454
60 K>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs980796839
CA134114286
62 E>K No ClinGen
Ensembl
CA3632614
rs1035406624
66 I>V No TOPMed
gnomAD
ClinGen
CA3632617
rs149772832
67 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3632616
rs754942039
67 Y>H No ExAC
gnomAD
ClinGen
rs149772832
CA134114317
67 Y>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs988335577
CA134114324
COSM3941438
68 D>E oesophagus [Cosmic] No TOPMed
ClinGen
cosmic curated
CA3632618
rs752771472
69 M>I No ExAC
ClinGen
rs758617036
CA3632619
70 K>R No ExAC
gnomAD
ClinGen
rs1329060208
CA362712987
71 K>R No gnomAD
ClinGen
CA3632620
rs778004073
73 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs1378751120
CA362713012
73 I>T No gnomAD
ClinGen
rs771299681
CA3632622
75 H>N No ExAC
TOPMed
gnomAD
ClinGen
CA3632623
rs781604474
75 H>P No ExAC
gnomAD
ClinGen
TCGA novel 77 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746373040
CA3632624
78 L>V No ExAC
gnomAD
ClinGen
rs770251781
CA3632625
79 V>A No ExAC
gnomAD
ClinGen
rs1339292795
CA362713095
79 V>M No ClinGen
gnomAD
rs773879151
CA3632626
80 H>P No ClinGen
ExAC
gnomAD
rs773879151
CA3632627
80 H>R No ClinGen
ExAC
gnomAD
CA362713122
rs1458453525
81 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs751776397
CA3632638
84 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA3632639
rs757532852
84 T>I No ClinGen
ExAC
gnomAD
rs1256283696
CA362707430
85 I>V No gnomAD
ClinGen
rs998869219
CA134083836
86 T>I No TOPMed
gnomAD
ClinGen
TCGA novel 89 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 90 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756602288
CA362707505
91 Y>* No ExAC
TOPMed
gnomAD
ClinGen
CA3632641
rs746255966
91 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA134083848
rs576643867
91 Y>H No Ensembl
ClinGen
CA362707514
rs1486906066
92 G>D No ClinGen
TOPMed
rs1478065056
CA362707549
95 H>L No TOPMed
gnomAD
ClinGen
CA362707550
rs1478065056
95 H>R No ClinGen
TOPMed
gnomAD
rs1209913480
CA362707561
96 L>F No ClinGen
gnomAD
CA362707571
rs1487800692
97 I>N No TOPMed
ClinGen
CA134083863
rs200414486
98 S>T No Ensembl
ClinGen
rs543079611
CA3632643
100 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA134083872
rs989015642
101 E>G No Ensembl
ClinGen
rs576346939
CA3632645
104 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1456160523
CA362707651
104 L>P No ClinGen
gnomAD
rs1409725885
CA362707668
106 C>R No Ensembl
ClinGen
CA362707720
rs1398190019
109 D>A No ClinGen
TOPMed
gnomAD
rs1360031821
CA362707717
109 D>N No gnomAD
ClinGen
CA362707724
rs1398190019
109 D>V No TOPMed
gnomAD
ClinGen
rs1280719286
CA362707738
110 A>V No ClinGen
gnomAD
CA362707759
rs1341663907
112 K>Q No ClinGen
gnomAD
CA362707801
rs1226070786
113 W>L No ClinGen
TOPMed
rs1306756683
CA362707783
113 W>R No Ensembl
ClinGen
CA134083883
rs954230160
114 E>K No TOPMed
gnomAD
ClinGen
rs770759731
CA3632648
115 C>S No ExAC
gnomAD
ClinGen
rs759283569
CA3632650
116 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs775304872
CA3632652
118 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs1305319312
CA362707938
120 K>N No TOPMed
ClinGen
rs1213806151
CA362707947
121 A>V No ClinGen
gnomAD
CA134083911
rs933583838
122 H>P No ClinGen
TOPMed
rs775412822
CA3632670
123 K>N No ExAC
gnomAD
ClinGen
rs62621438
CA3632671
124 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs551247280
CA3632672
126 V>L No ExAC
TOPMed
gnomAD
ClinGen
CA3632675
rs200433932
129 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA362708146
rs548226729
132 H>Q No 1000Genomes
ExAC
gnomAD
ClinGen
rs569689711
CA3632678
133 P>A No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3632679
rs754307959
133 P>L No ClinGen
ExAC
gnomAD
rs569689711
CA3632677
133 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1444149658
CA362708185
134 S>C No ClinGen
gnomAD
CA362708189
rs1310941584
135 G>S No gnomAD
ClinGen
CA3632680
rs755512237
137 L>V No ExAC
ClinGen
rs1048882804
CA134084051
138 A>T No TOPMed
ClinGen
CA362708260
rs1463974352
138 A>V No TOPMed
ClinGen
rs1277010938
CA362708276
139 L>P No ClinGen
gnomAD
CA362708289
rs1350809622
140 S>L No gnomAD
ClinGen
CA134084069
rs141357694
141 V>A No ESP
TOPMed
gnomAD
ClinGen
rs751066241
CA3632682
141 V>I No ExAC
gnomAD
ClinGen
TCGA novel 142 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3632684
rs780830226
143 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs1037020277
CA134084074
144 D>G No TOPMed
ClinGen
rs1258335016
CA362708376
146 T>A No ClinGen
TOPMed
gnomAD
CA134084086
rs1035617206
147 L>S No ClinGen
Ensembl
rs753133647
CA3632697
149 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1226158270
CA362708606
152 L>P No ClinGen
TOPMed
rs972279400
CA134084628
153 V>I No ClinGen
TOPMed
gnomAD
rs972279400
CA362708621
153 V>L No ClinGen
TOPMed
gnomAD
CA3632703
rs765782849
156 R>G No ExAC
gnomAD
ClinGen
CA362708664
rs753261456
156 R>I No ExAC
TOPMed
gnomAD
ClinGen
CA3632704
rs753261456
156 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1401875316
CA362708713
160 I>V No gnomAD
ClinGen
CA362708727
rs1581583992
161 K>E No ClinGen
Ensembl
rs559977553
CA3632706
161 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 162 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3632707
rs530364577
162 N>T No ClinGen
1000Genomes
ExAC
gnomAD
CA362708738
rs1338913716
162 N>Y No ClinGen
TOPMed
rs1305414182
CA362708756
164 K>E No TOPMed
ClinGen
rs1360431859
CA362708766
164 K>N No ClinGen
gnomAD
CA362708770
rs1414843182
165 Q>E No gnomAD
ClinGen
rs764693083
CA3632723
167 A>S No ClinGen
ExAC
gnomAD
CA362709225
rs1318841475
168 H>R No ClinGen
gnomAD
rs1230758231
CA362709239
169 I>M No gnomAD
ClinGen
rs749851403
CA3632724
169 I>T No ClinGen
ExAC
gnomAD
CA362709232
rs1406046644
169 I>V No ClinGen
TOPMed
CA134085303
rs938084538
170 V>E No gnomAD
ClinGen
rs1239627967
CA362709265
172 W>* No ClinGen
gnomAD
CA3632725
rs201862329
172 W>C No ClinGen
ExAC
gnomAD
CA362709261
rs1348879251
172 W>R No gnomAD
ClinGen
CA3632726
rs765946190
173 S>T No ClinGen
ExAC
gnomAD
CA3632727
rs753482373
174 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 174 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 175 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3632729
rs778660768
176 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA3632728
rs754679174
CA362709308
176 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs748018921
CA3632730
177 E>D No ExAC
TOPMed
gnomAD
ClinGen
CA362709336
rs1454457308
179 Y>H No gnomAD
ClinGen
TCGA novel 180 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375444258
CA3632731
180 V>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362709356
rs1581584807
181 V>I No ClinGen
Ensembl
CA134085341
rs770529700
182 I>T No gnomAD
ClinGen
CA134085344
rs916074390
183 I>M No ClinGen
TOPMed
rs771049452
CA3632735
184 Q>* No ClinGen
ExAC
gnomAD
CA3632739
rs775957449
189 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA3632738
rs141123017
189 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs201625393
CA3632737
189 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3632743
rs762291816
190 Y>C No ExAC
TOPMed
gnomAD
ClinGen
CA3632742
rs764449402
190 Y>H No ExAC
TOPMed
gnomAD
ClinGen
CA3632741
rs764449402
190 Y>N No ClinGen
ExAC
TOPMed
gnomAD
rs1261693949
CA362709510
194 T>I No gnomAD
ClinGen
CA134085369
rs929059408
195 A>V No ClinGen
TOPMed
gnomAD
CA3632744
rs765857722
196 S>P No ExAC
gnomAD
ClinGen
rs145305623
CA134085378
198 S>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145305623
CA3632745
198 S>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3632746
rs754597395
200 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA362709594
rs1427729335
201 I>M No ClinGen
TOPMed
rs1177665734
CA362709586
201 I>T No ClinGen
gnomAD
rs17856340
CA134085402
201 I>V No Ensembl
ClinGen
TCGA novel 204 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 206 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1268338228
CA362709675
207 I>M No ClinGen
TOPMed
gnomAD
rs1235951252
CA362709667
207 I>N No gnomAD
ClinGen
CA3632748
rs374642668
208 S>F No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1456355850
COSM1071797
CA362709733
213 L>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA134085409
rs1001055212
213 L>P No ClinGen
Ensembl
CA134085529
rs112971132
215 E>D No ClinGen
TOPMed
CA3632766
rs759073628
215 E>G No ExAC
gnomAD
ClinGen
rs1462708228
CA362709779
215 E>K No gnomAD
ClinGen
rs1042628376
CA134085536
220 V>M No TOPMed
ClinGen
rs1340442424
CA362709851
223 D>E No ClinGen
gnomAD
CA3632769
rs762579782
223 D>G No ClinGen
ExAC
gnomAD
CA134085539
rs903255182
225 E>V No ClinGen
TOPMed
gnomAD
rs1581585109
CA362709871
226 V>G No ClinGen
Ensembl
rs1019064119
CA134085558
226 V>I No ClinGen
Ensembl
CA134085570
rs751362115
227 I>K No ExAC
TOPMed
gnomAD
ClinGen
rs751362115
CA3632771
227 I>T No ExAC
TOPMed
gnomAD
ClinGen
CA362709886
rs1581585124
229 F>V No Ensembl
ClinGen
TCGA novel 230 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM3429824
CA362709899
rs1248330092
230 F>L large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA3632772
rs757218948
231 D>V No ClinGen
ExAC
gnomAD
CA362709902
rs1227761972
231 D>Y No ClinGen
gnomAD
rs1482023186
CA362709908
232 C>R No TOPMed
gnomAD
ClinGen
CA3632773
rs781299034
232 C>Y No ExAC
gnomAD
ClinGen
CA134085591
rs1035653928
233 D>N No TOPMed
ClinGen
CA3632775
rs756266685
235 L>P No ExAC
TOPMed
gnomAD
ClinGen
CA134085606
rs960066635
235 L>V No TOPMed
ClinGen
rs780060997
CA3632776
236 V>A No ExAC
gnomAD
ClinGen
rs1479490155
CA362709939
237 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
rs1211316676
CA362709945
238 L>F No TOPMed
ClinGen
rs1175682038
COSM1439566
CA362709957
240 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA3632778
rs768806860
242 K>R No ExAC
gnomAD
ClinGen
CA362709985
rs1436731359
243 A>V No ClinGen
gnomAD
TCGA novel 245 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA134085624
rs768386985
247 R>K No Ensembl
ClinGen
CA362710091
rs1389597755
248 V>L No TOPMed
ClinGen
rs970831289
CA134087229
255 E>V No TOPMed
ClinGen
CA3632796
rs780155614
257 P>A No ExAC
TOPMed
gnomAD
ClinGen
CA3632797
rs780155614
257 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs774340999
CA3632798
259 H>R No ExAC
TOPMed
gnomAD
ClinGen
CA362710266
rs1317445830
259 H>Y No TOPMed
gnomAD
ClinGen
rs926366590
CA134087240
260 H>Y No TOPMed
gnomAD
ClinGen
CA362710299
rs1469627432
261 V>L No gnomAD
ClinGen
CA3632799
rs779029025
265 A>V No ClinGen
ExAC
gnomAD
CA3632802
rs778178362
267 S>N No ExAC
gnomAD
ClinGen
rs1179031663
CA362710417
272 K>R No ClinGen
gnomAD
CA3632803
rs747502007
273 M>I No ClinGen
ExAC
gnomAD
rs771392427
CA3632804
275 K>T No ExAC
ClinGen
rs777647099
CA134087270
276 L>F No Ensembl
ClinGen
CA134087274
rs17850695
277 K>E No Ensembl
ClinGen
CA3632807
rs748769773
279 D>G No ClinGen
ExAC
gnomAD
rs748769773
CA362710512
279 D>V No ClinGen
ExAC
gnomAD
CA134087288
rs956362330
279 D>Y No Ensembl
ClinGen
rs543748909
CA3632808
280 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1330440499
CA362710788
281 K>Q No ClinGen
gnomAD
CA3632828
rs774061851
281 K>R No ClinGen
ExAC
gnomAD
rs150098092
CA3632829
282 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362710803
rs1446641274
282 V>I No ClinGen
TOPMed
gnomAD
CA134088352
rs988724197
284 P>S No ClinGen
TOPMed
rs1331616971
CA362710843
286 L>I No TOPMed
ClinGen
CA362710846
rs1301929326
286 L>S No TOPMed
ClinGen
CA3632830
rs771887841
287 L>F No ClinGen
ExAC
gnomAD
rs1422201546
CA362710852
287 L>P No TOPMed
ClinGen
rs1371940259
CA362710855
288 C>S No ClinGen
TOPMed
CA362710868
rs1233762706
289 E>A No ClinGen
gnomAD
CA362710877
rs1168805160
290 I>M No TOPMed
ClinGen
CA134088355
rs947557583
292 T>I No ClinGen
Ensembl
rs1409058274
CA362710888
292 T>S No ClinGen
TOPMed
rs866669053
CA134088356
293 N>I No Ensembl
ClinGen
CA362710903
rs1193312289
294 A>V No TOPMed
ClinGen
rs759587941
CA3632835
297 T>M No ClinGen
ExAC
gnomAD
rs759587941
CA362710920
297 T>R No ClinGen
ExAC
gnomAD
rs541330686
CA3632837
299 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1484061175
CA362710982
307 A>T No ClinGen
TOPMed
CA362710986
rs1193510970
307 A>V No ClinGen
gnomAD
rs764331618
CA3632840
309 M>V No ClinGen
ExAC
gnomAD
rs971167647
CA134088433
311 E>K No TOPMed
ClinGen
CA134088446
rs11541087
313 L>P No Ensembl
ClinGen
TCGA novel 314 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751862442
CA3632841
314 P>S No ClinGen
ExAC
gnomAD
rs757564742
CA3632842
315 P>L No ExAC
gnomAD
ClinGen
TCGA novel 320 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781668945
CA3632844
321 P>S No ClinGen
ExAC
gnomAD
rs762152013
CA3632860
325 E>V No ClinGen
ExAC
gnomAD
CA3632862
rs750835827
327 S>F No ClinGen
ExAC
gnomAD
rs370741204
CA3632861
327 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 329 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 332 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3632864
rs201629252
333 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362711196
rs1441369764
335 G>S No ClinGen
gnomAD
rs375199458
CA3632867
338 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757989245
CA3632866
338 V>M No ExAC
gnomAD
ClinGen
CA3632869
rs770667105
340 K>E No ExAC
TOPMed
gnomAD
ClinGen
CA3632871
rs745708831
342 E>A No ClinGen
ExAC
gnomAD
rs149331925
CA3632870
342 E>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs190974202
CA3632873
344 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs190974202
CA3632874
344 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
COSM1071803
CA3632872
rs769673112
344 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3632876
rs774539405
345 S>P No ExAC
gnomAD
ClinGen
rs1352705212
CA362711317
348 N>H No ClinGen
Ensembl
CA3632877
rs761905760
350 K>E No ClinGen
ExAC
gnomAD
rs1417396834
CA362711359
351 K>E No TOPMed
ClinGen
CA3632878
rs147437498
COSM1439573
352 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3632879
rs750701531
352 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs532654988
CA362711387
353 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3632880
rs532654988
353 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3632882
rs548071451
355 T>R No 1000Genomes
ExAC
gnomAD
ClinGen
rs138082481
CA3632881
355 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362711458
rs1468653869
357 D>H No ClinGen
TOPMed
gnomAD
CA362711454
rs1468653869
357 D>Y No TOPMed
gnomAD
ClinGen
CA3632884
rs763494608
358 S>G No ExAC
TOPMed
gnomAD
ClinGen
CA3632885
rs34857240
359 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3632887
rs147259600
362 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1381592765
CA362711597
362 T>I No TOPMed
ClinGen
TCGA novel 364 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1561895989
CA362711661
366 G>S No ClinGen
Ensembl
rs768619766
CA3632892
368 I>M No ClinGen
ExAC
gnomAD
rs1437708870
CA362711704
368 I>T No ClinGen
TOPMed
rs749199819
CA3632891
368 I>V No ExAC
gnomAD
ClinGen
rs201265248
CA3632893
369 S>P No ClinGen
ExAC
gnomAD
CA362711760
rs1296638087
372 K>R No ClinGen
gnomAD
rs72821574
CA3632894
376 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150834153
CA3632895
378 M>I No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA134088835
rs747636201
384 K>E No ClinGen
TOPMed
gnomAD
rs1383628115
CA362711927
384 K>R No TOPMed
ClinGen
TCGA novel 385 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3632897
rs139264536
386 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA134088874
rs995826338
388 I>M No TOPMed
ClinGen
rs537437372
CA3632898
388 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1340931492
CA362711996
389 K>R No ClinGen
gnomAD
CA362712006
rs1195879678
390 T>A No ClinGen
gnomAD
rs764243590
CA3632899
390 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs764243590
CA3632900
390 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA362712024
rs1484665335
391 M>R No ClinGen
gnomAD
rs1561896081
CA362712019
391 M>V No ClinGen
Ensembl
CA3632902
rs760088755
392 Q>* No ExAC
gnomAD
ClinGen
CA3632903
rs765805578
392 Q>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3632904
rs750985706
393 Q>S No ClinGen
ExAC

No associated diseases with Q9NWT1

8 regional properties for Q9NWT1

Type Name Position InterPro Accession
repeat WD40 repeat 29 - 70 IPR001680-1
repeat WD40 repeat 71 - 160 IPR001680-2
repeat WD40 repeat 194 - 231 IPR001680-3
repeat WD40 repeat 234 - 284 IPR001680-4
conserved_site WD40 repeat, conserved site 138 - 152 IPR019775
repeat G-protein beta WD-40 repeat 96 - 110 IPR020472-1
repeat G-protein beta WD-40 repeat 138 - 152 IPR020472-2
repeat G-protein beta WD-40 repeat 262 - 276 IPR020472-3

Functions

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

1 GO annotations of cellular component

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

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name Definition
cell population proliferation The multiplication or reproduction of cells, resulting in the expansion of a cell population.
negative regulation of signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction.
regulation of signal transduction by p53 class mediator Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator.
ribosomal large subunit biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a large ribosomal subunit; includes transport to the sites of protein synthesis.
roof of mouth development The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MELVAGCYEQ VLFGFAVHPE PEACGDHEQW TLVADFTHHA HTASLSAVAV NSRFVVTGSK
70 80 90 100 110 120
DETIHIYDMK KKIEHGALVH HSGTITCLKF YGNRHLISGA EDGLICIWDA KKWECLKSIK
130 140 150 160 170 180
AHKGQVTFLS IHPSGKLALS VGTDKTLRTW NLVEGRSAFI KNIKQNAHIV EWSPRGEQYV
190 200 210 220 230 240
VIIQNKIDIY QLDTASISGT ITNEKRISSV KFLSESVLAV AGDEEVIRFF DCDSLVCLCE
250 260 270 280 290 300
FKAHENRVKD MFSFEIPEHH VIVSASSDGF IKMWKLKQDK KVPPSLLCEI NTNARLTCLG
310 320 330 340 350 360
VWLDKVADMK ESLPPAAEPS PVSKEQSKIG KKEPGDTVHK EEKRSKPNTK KRGLTGDSKK
370 380 390
ATKESGLIST KKRKMVEMLE KKRKKKKIKT MQ