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

2 structures for Q8IVD9

Entry ID Method Resolution Chain Position Source
1WGV NMR - A 176-286 PDB
AF-Q8IVD9-F1 Predicted AlphaFoldDB

294 variants for Q8IVD9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs307007
CA157930553
3 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762179144
CA4241320
3 T>K No ClinGen
ExAC
gnomAD
VAR_054036
rs307007
CA4241321
3 T>P No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1382050170
CA367387328
4 G>E No ClinGen
gnomAD
CA4241318
rs146329778
5 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs373059594
CA4241317
5 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367387287
rs1183887921
6 A>V No ClinGen
gnomAD
rs775686676
CA4241316
7 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs377401450
CA157930509
9 Y>C No ClinGen
ESP
TOPMed
gnomAD
rs1284564258
CA367387163
10 D>G No ClinGen
TOPMed
gnomAD
CA4241314
rs745919662
11 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs373111430
CA4241312
13 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4241313
rs373111430
13 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4241310
rs777702916
14 L>F No ClinGen
ExAC
rs189900651
CA4241311
14 L>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367387003
rs1376432982
15 G>C No ClinGen
gnomAD
TCGA novel 17 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367386921
rs1292480325
18 Q>H No ClinGen
TOPMed
gnomAD
CA367386927
rs1281001032
18 Q>R No ClinGen
TOPMed
CA367386900
rs1350507784
19 H>Y No ClinGen
gnomAD
CA367386872
rs1362197797
20 V>L No ClinGen
gnomAD
CA157930476
rs866447926
21 G>V No ClinGen
Ensembl
rs755869101
CA4241309
22 N>I No ClinGen
ExAC
gnomAD
TCGA novel 24 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4241308
rs752317758
24 Q>R No ClinGen
ExAC
gnomAD
rs1228510022
CA367386703
25 D>N No ClinGen
TOPMed
rs1422291283
CA367386623
28 R>C No ClinGen
TOPMed
gnomAD
rs201423294
CA4241306
29 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs751027167
CA4241305
30 L>H No ClinGen
ExAC
gnomAD
rs1406792885
CA367386580
31 F>L No ClinGen
gnomAD
rs1406792885
CA367386577
31 F>V No ClinGen
gnomAD
CA4241303
rs369984670
32 G>C No ClinGen
ESP
ExAC
gnomAD
CA4241300
rs373365864
35 Y>H No ClinGen
ESP
ExAC
gnomAD
CA367386441
rs1473039389
36 R>C No ClinGen
TOPMed
rs1292351262
CA367386435
36 R>H No ClinGen
TOPMed
gnomAD
rs569119981
CA4241299
37 K>R Variant assessed as Somatic; 4.833e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772265765
CA4241298
38 T>I No ClinGen
ExAC
gnomAD
rs759547552
CA4241297
39 D>G No ClinGen
ExAC
gnomAD
TCGA novel 39 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4241296
rs774559000
40 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA157930407
rs1022962801
41 Y>C No ClinGen
TOPMed
gnomAD
rs1406592584
CA367386212
44 L>P No ClinGen
TOPMed
rs1393787690
CA367386193
45 R>H No ClinGen
TOPMed
gnomAD
rs749204458
CA367386157
CA4241294
46 H>Q No ClinGen
ExAC
gnomAD
rs747911756
CA4241291
48 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4241292
rs769744697
48 S>P No ClinGen
ExAC
gnomAD
rs369942216
CA367386122
49 D>H No ClinGen
ESP
TOPMed
rs369942216
CA157930364
49 D>N No ClinGen
ESP
TOPMed
CA157930356
rs867641636
50 R>H No ClinGen
TOPMed
gnomAD
rs867641636
CA367386073
50 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs780721403
CA4241290
51 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA367386054
rs1189963072
51 M>T No ClinGen
gnomAD
rs940942736
CA157930340
52 G>S No ClinGen
TOPMed
gnomAD
rs1198952792
CA367385963
55 P>A No ClinGen
gnomAD
CA4241286
rs757812999
56 G>A No ClinGen
ExAC
gnomAD
CA367385941
rs779511167
56 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs779511167
CA4241287
56 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs1483554719
CA367385903
58 A>V No ClinGen
TOPMed
rs1303368925
CA367385898
59 Q>E No ClinGen
gnomAD
CA4241284
rs764541873
60 A>S No ClinGen
ExAC
gnomAD
CA157930252
rs962756833
61 L>M No ClinGen
TOPMed
CA367385855
rs1016986453
63 L>M No ClinGen
TOPMed
CA4241271
rs367883334
65 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367383913
rs1563192046
66 F>L No ClinGen
Ensembl
CA367383902
rs1326365217
67 K>E No ClinGen
TOPMed
CA367383890
rs1585111952
67 K>N No ClinGen
Ensembl
rs1396338586
CA367383876
68 T>S No ClinGen
TOPMed
rs779631530
CA4241270
69 F>L No ClinGen
ExAC
gnomAD
CA4241269
rs757931682
72 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs757931682
CA367383765
72 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA367383731
rs1442578250
73 A>T No ClinGen
gnomAD
CA4241267
rs371421304
74 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756631027
CA4241266
74 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA367383587
rs1285843881
77 D>A No ClinGen
TOPMed
rs1286710003
CA367383561
78 E>K No ClinGen
gnomAD
CA367383398
rs1348718803
83 E>D No ClinGen
gnomAD
rs1234394576
CA367383416
83 E>K No ClinGen
TOPMed
CA4241264
rs767890675
84 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs550366011
CA4241263
85 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1354664266
CA367383276
89 R>G No ClinGen
TOPMed
TCGA novel 89 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1209514130
CA367383225
91 K>R No ClinGen
TOPMed
rs372229653
CA4241262
93 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200684595
CA4241260
94 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1053400213
CA157925855
95 E>G No ClinGen
TOPMed
CA4241259
rs773412531
95 E>K No ClinGen
ExAC
gnomAD
rs200164721
CA4241257
99 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367383030
rs1370015757
101 A>T No ClinGen
TOPMed
rs768521852
CA4241255
103 A>T No ClinGen
ExAC
rs1456191796
CA367382981
104 A>P No ClinGen
TOPMed
rs1369785350
CA367382937
107 E>Q No ClinGen
gnomAD
CA4241254
rs746764203
107 E>V No ClinGen
ExAC
rs775125688
CA4241253
109 V>F No ClinGen
ExAC
gnomAD
CA367382886
rs1263626812
111 V>F No ClinGen
gnomAD
CA4241252
rs771651439
112 P>T No ClinGen
ExAC
gnomAD
rs1392703993
CA367382867
113 V>G No ClinGen
TOPMed
CA367382829
rs745436649
115 E>D No ClinGen
ExAC
gnomAD
TCGA novel 115 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4241250
rs778481864
116 I>T No ClinGen
ExAC
gnomAD
TCGA novel 117 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs189139007
CA157925802
118 I>V No ClinGen
1000Genomes
TOPMed
rs1210467586
CA367382762
119 D>N No ClinGen
gnomAD
rs1044009496
CA157925801
120 S>C No ClinGen
TOPMed
gnomAD
rs370945060
CA4241248
121 T>I No ClinGen
ESP
ExAC
gnomAD
CA367382686
rs1232869672
122 T>R No ClinGen
gnomAD
rs61745062
CA4241247
123 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201221635
CA4241246
123 E>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766766388
CA4241244
125 D>N No ClinGen
ExAC
gnomAD
CA367382607
rs1252196252
126 G>E No ClinGen
TOPMed
CA367382614
rs1405491166
126 G>R No ClinGen
gnomAD
CA367382610
rs1405491166
126 G>W No ClinGen
gnomAD
rs758689871
CA4241243
128 Q>H No ClinGen
ExAC
gnomAD
CA367382519
rs1162432009
129 E>G No ClinGen
gnomAD
CA157925716
rs988368420
130 V>G No ClinGen
TOPMed
rs368303594
CA4241241
130 V>I No ClinGen
ESP
ExAC
gnomAD
rs761752415
CA4241240
131 E>D No ClinGen
ExAC
gnomAD
rs944855380
CA157925715
131 E>V No ClinGen
TOPMed
rs776659627
CA4241239
133 V>E No ClinGen
ExAC
gnomAD
rs1474406211
CA367382415
133 V>M No ClinGen
gnomAD
CA4241238
CA157925672
rs115164631
134 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370549116
CA4241236
136 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367382262
rs1585111641
139 V>M No ClinGen
Ensembl
rs745487952
CA4241234
142 M>I No ClinGen
ExAC
gnomAD
CA4241232
rs770495408
143 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA4241233
rs770495408
143 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4241231
rs748681908
144 H>R No ClinGen
ExAC
gnomAD
rs1206108894
CA367382144
144 H>Y No ClinGen
gnomAD
rs953619201
CA157925602
145 G>S No ClinGen
TOPMed
rs1275999400
CA367382060
146 S>L No ClinGen
gnomAD
rs138070211
CA367382034
147 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA157925578
rs199516211
148 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA157925568
rs543622747
149 A>T No ClinGen
1000Genomes
gnomAD
CA4241226
rs758746958
151 A>T No ClinGen
ExAC
gnomAD
CA367381885
rs1585111583
152 P>L No ClinGen
Ensembl
rs369865643
CA157925552
154 A>E No ClinGen
Ensembl
CA367381866
rs1418492484
154 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1369447454
CA367381845
155 V>I No ClinGen
TOPMed
rs778965814
CA4241224
156 A>S No ClinGen
ExAC
gnomAD
CA4241223
rs757360285
158 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA4241221
rs764146504
159 A>G No ClinGen
ExAC
gnomAD
rs753799747
CA4241222
159 A>P No ClinGen
ExAC
gnomAD
CA367381712
rs764146504
159 A>V No ClinGen
ExAC
gnomAD
CA367381673
rs1437679039
160 E>D No ClinGen
gnomAD
CA157925528
rs1014822130
160 E>K No ClinGen
TOPMed
COSM1259693
CA157925523
rs1014822130
160 E>Q oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1585111535
CA367381671
161 V>I No ClinGen
Ensembl
CA4241219
rs752529149
162 P>A No ClinGen
ExAC
gnomAD
rs767277652
CA4241218
163 R>K No ClinGen
ExAC
gnomAD
TCGA novel 163 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367381566
rs1300668656
165 P>Q No ClinGen
gnomAD
rs1232870515
CA367381548
166 P>A No ClinGen
gnomAD
rs34435177
CA367381520
167 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774082717
CA4241216
167 I>S No ClinGen
ExAC
gnomAD
CA4241217
rs34435177
167 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367381488
COSM232919
rs1439567139
168 L>F skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA367381491
rs1439567139
168 L>V No ClinGen
TOPMed
gnomAD
CA4241215
rs770435609
169 P>L No ClinGen
ExAC
gnomAD
rs1436537216
CA367381432
170 R>G No ClinGen
TOPMed
gnomAD
rs998198277
CA157943571
170 R>S No ClinGen
TOPMed
CA157943566
rs777794280
175 F>L No ClinGen
Ensembl
CA367555703
rs1410497638
179 P>L No ClinGen
gnomAD
rs757750498
CA4241066
180 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367555693
rs1242290336
181 S>G No ClinGen
TOPMed
CA367555691
rs1482818500
181 S>T No ClinGen
Ensembl
rs1428973141
CA367555675
183 N>S No ClinGen
TOPMed
rs749820004
CA4241065
187 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs778099333
CA4241064
187 R>Q No ClinGen
ExAC
gnomAD
rs756504391
CA4241063
189 N>S No ClinGen
ExAC
gnomAD
CA367555607
rs1208761561
193 S>L No ClinGen
gnomAD
rs1316967733
CA367555585
196 Y>C No ClinGen
gnomAD
CA4241061
rs375774867
199 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367555556
rs1461446041
201 V>I No ClinGen
TOPMed
rs766588627
CA4241058
CA4241059
202 R>S No ClinGen
ExAC
gnomAD
rs762903299
CA4241057
203 V>L No ClinGen
ExAC
gnomAD
rs1353432621
CA367555521
207 K>E No ClinGen
gnomAD
rs1431626602
CA367555505
209 V>M No ClinGen
gnomAD
rs888320964
CA157943535
210 V>L No ClinGen
TOPMed
gnomAD
CA367555498
rs888320964
210 V>M No ClinGen
TOPMed
gnomAD
CA4241055
rs201734344
211 K>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 213 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1015376214
CA157935176
223 S>A No ClinGen
TOPMed
CA4241028
rs770372752
223 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs748688442
COSM1089939
CA4241027
225 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4241026
rs201065672
225 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs201065672
CA367555191
225 R>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1299057325
CA367555190
226 V>M No ClinGen
gnomAD
CA4241025
rs769148630
227 A>V No ClinGen
ExAC
gnomAD
CA367555167
rs1168473840
229 L>P No ClinGen
gnomAD
rs747321112
CA4241024
230 E>V No ClinGen
ExAC
gnomAD
rs140515906
CA4241023
232 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758548123
CA4241022
232 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs750560463
CA4241021
233 G>E No ClinGen
ExAC
gnomAD
rs11550029
VAR_031709
CA4241019
235 R>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4241018
rs142257577
235 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA157935131
rs201003414
236 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201003414
CA4241016
236 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367555121
rs1282475970
237 L>F No ClinGen
gnomAD
rs1307946950
CA367555113
238 M>T No ClinGen
gnomAD
rs913303955
CA157935110
243 T>A No ClinGen
Ensembl
CA4241013
rs765176728
244 H>L No ClinGen
ExAC
gnomAD
rs1464251698
CA367555068
245 K>Q No ClinGen
gnomAD
CA4241012
rs372479007
245 K>R No ClinGen
ExAC
TOPMed
TCGA novel 245 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376765908
CA367555052
247 N>Y No ClinGen
gnomAD
rs765838784
CA4241011
248 T>A No ClinGen
ExAC
gnomAD
CA367555037
rs1420725699
249 E>G No ClinGen
gnomAD
CA367555032
rs762486546
250 S>C No ClinGen
ExAC
gnomAD
rs762486546
CA4241010
250 S>R No ClinGen
ExAC
gnomAD
CA157935079
rs947619595
251 S>F No ClinGen
TOPMed
CA367555025
rs1169860233
251 S>P No ClinGen
gnomAD
TCGA novel 251 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777292008
CA4241009
252 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA157935070
rs938783296
254 S>G No ClinGen
TOPMed
rs55683944
CA157935061
256 E>K No ClinGen
TOPMed
gnomAD
CA157935058
rs55683944
256 E>Q No ClinGen
TOPMed
gnomAD
rs1261601495
CA367554986
257 P>H No ClinGen
gnomAD
CA4241006
rs759531529
257 P>S No ClinGen
ExAC
TOPMed
gnomAD
COSM1450914
rs969997957
CA157935042
258 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1187633701
CA367554974
259 K>R No ClinGen
TOPMed
gnomAD
rs779151517
CA4241003
260 C>Y No ClinGen
ExAC
gnomAD
rs749305682
CA4241001
261 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA367554120
rs1280042105
264 N>D No ClinGen
TOPMed
rs1338285106
CA367554104
266 S>T No ClinGen
TOPMed
CA157927833
rs751357483
268 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA4240975
rs751357483
268 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs145712203
CA4240972
270 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
rs1585049869
CA367554059
272 W>C No ClinGen
Ensembl
TCGA novel 273 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4240971
rs764865453
274 N>D No ClinGen
ExAC
gnomAD
rs562538702
CA4240970
274 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367554041
rs1174300328
275 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1416217621
CA367554035
276 I>F No ClinGen
gnomAD
rs140073158
CA4240968
278 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4240967
rs759872496
281 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1265976276
CA367553996
282 P>A No ClinGen
TOPMed
rs970049066
CA157927781
282 P>L No ClinGen
TOPMed
CA367553991
rs1377763783
283 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA4240964
rs763137837
284 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA157927767
rs771366456
285 I>V No ClinGen
Ensembl
CA157927756
rs899192050
287 K>R No ClinGen
TOPMed
gnomAD
CA157927763
rs899192050
287 K>T No ClinGen
TOPMed
gnomAD
TCGA novel 288 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367553951
rs1211041965
288 I>M No ClinGen
gnomAD
rs1483107869
CA367553945
289 N>S No ClinGen
gnomAD
rs879667846
CA157927747
290 K>R No ClinGen
TOPMed
rs1420112449
CA367553933
291 E>Q No ClinGen
TOPMed
rs773373200
CA4240961
292 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1218266712
CA367553925
292 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA157927740
rs369527166
293 S>T No ClinGen
ESP
TOPMed
gnomAD
CA157927734
rs1011981796
294 M>V No ClinGen
TOPMed
CA157927727
rs147519520
297 V>M No ClinGen
ESP
TOPMed
gnomAD
rs149687229
CA4240960
298 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369206508
CA4240958
303 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA157927701
rs79020500
304 V>G No ClinGen
Ensembl
CA157927703
rs1051636815
304 V>M No ClinGen
Ensembl
rs1333761690
CA367553829
307 R>G No ClinGen
gnomAD
CA4240955
rs779976154
308 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs758222272
CA4240954
311 D>E No ClinGen
ExAC
gnomAD
rs1472451165
CA367553792
312 Y>S No ClinGen
gnomAD
CA367553785
rs1585049725
313 H>P No ClinGen
Ensembl
CA4240952
rs778637751
313 H>Q No ClinGen
ExAC
gnomAD
CA367553769
rs1268652474
315 K>R No ClinGen
TOPMed
rs921895254
CA157927664
317 Q>E No ClinGen
Ensembl
rs753372746
CA4240950
317 Q>H No ClinGen
ExAC
gnomAD
rs767972859
CA4240949
318 G>D No ClinGen
ExAC
gnomAD
rs201551368
CA4240947
320 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766813840
CA4240926
328 H>N No ClinGen
ExAC
gnomAD
CA367553617
rs1554486232
328 H>R No ClinGen
Ensembl
TCGA novel 329 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371599060
CA4240925
330 M>I No ClinGen
ESP
ExAC
gnomAD
CA367553605
rs1178495334
330 M>V No ClinGen
TOPMed
rs1295602374
CA367553574
334 G>R No ClinGen
TOPMed
gnomAD
rs765419349
CA4240923
338 E>A No ClinGen
ExAC
gnomAD
CA367553540
rs1349846297
338 E>K No ClinGen
TOPMed
gnomAD
CA367553539
rs1349846297
338 E>Q No ClinGen
TOPMed
gnomAD
CA4240921
rs776671458
343 R>* No ClinGen
ExAC
gnomAD
rs1410648930
CA367553485
343 R>Q No ClinGen
gnomAD
CA4240920
rs139501693
346 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367553434
rs1585045990
348 D>A No ClinGen
Ensembl
COSM189000
rs760773518
CA4240919
348 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4240917
rs772118837
351 M>I No ClinGen
ExAC
gnomAD
rs775577561
CA4240918
351 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745721645
CA4240916
352 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1282495331
CA367553375
353 N>S No ClinGen
TOPMed
CA4240913
rs776014477
356 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770536144
CA4240914
356 P>S No ClinGen
ExAC
gnomAD
CA367553310
rs777107422
357 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs777107422
CA4240911
357 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs947164919
CA157922978
357 G>W No ClinGen
gnomAD
rs1367346736
CA367553308
358 A>T No ClinGen
TOPMed
gnomAD
rs750833397
CA4240907
359 V>A No ClinGen
ExAC
gnomAD
CA4240908
rs758871075
359 V>L No ClinGen
ExAC
gnomAD
CA4240909
rs758871075
359 V>M No ClinGen
ExAC
gnomAD
CA4240906
rs201868328
360 Q>H No ClinGen
1000Genomes
ExAC
gnomAD

No associated diseases with Q8IVD9

3 regional properties for Q8IVD9

Type Name Position InterPro Accession
domain CS domain 185 - 277 IPR007052
domain NudC N-terminal domain 9 - 67 IPR025934
domain NudC domain-containing protein 3, p23 domain 184 - 285 IPR037905

Functions

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

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic dynein complex Any dynein complex with a homodimeric dynein heavy chain core that catalyzes movement along a microtubule. Cytoplasmic dynein complexes participate in many cytoplasmic transport activities in eukaryotes, such as mRNA localization, intermediate filament transport, nuclear envelope breakdown, apoptosis, transport of centrosomal proteins, mitotic spindle assembly, virus transport, kinetochore functions, and movement of signaling and spindle checkpoint proteins. Some complexes participate in intraflagellar transport. Subunits associated with the dynein heavy chain mediate association between dynein heavy chain and cargoes, and may include light chains and light intermediate chains.

1 GO annotations of molecular function

Name Definition
unfolded protein binding Binding to an unfolded protein.

3 GO annotations of biological process

Name Definition
cilium assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
protein folding The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
protein localization to pericentriolar material A process in which a protein is transported to, or maintained in, a location within a pericentriolar material.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8R1N4 Nudcd3 NudC domain-containing protein 3 Mus musculus (Mouse) PR
10 20 30 40 50 60
METGAAELYD QALLGILQHV GNVQDFLRVL FGFLYRKTDF YRLLRHPSDR MGFPPGAAQA
70 80 90 100 110 120
LVLQVFKTFD HMARQDDEKR RQELEEKIRR KEEEEAKTVS AAAAEKEPVP VPVQEIEIDS
130 140 150 160 170 180
TTELDGHQEV EKVQPPGPVK EMAHGSQEAE APGAVAGAAE VPREPPILPR IQEQFQKNPD
190 200 210 220 230 240
SYNGAVRENY TWSQDYTDLE VRVPVPKHVV KGKQVSVALS SSSIRVAMLE ENGERVLMEG
250 260 270 280 290 300
KLTHKINTES SLWSLEPGKC VLVNLSKVGE YWWNAILEGE EPIDIDKINK ERSMATVDEE
310 320 330 340 350 360
EQAVLDRLTF DYHQKLQGKP QSHELKVHEM LKKGWDAEGS PFRGQRFDPA MFNISPGAVQ
F