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 Q8N4B4

Entry ID Method Resolution Chain Position Source
AF-Q8N4B4-F1 Predicted AlphaFoldDB

389 variants for Q8N4B4

Variant ID(s) Position Change Description Diseaes Association Provenance
CA8332341
rs61753286
2 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143419082
CA8332340
2 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368045455
CA8332343
3 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA397758491
rs1456666166
4 E>G No ClinGen
TOPMed
gnomAD
CA287393382
rs146724926
6 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8332344
rs146724926
6 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8332345
rs61753143
8 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397758517
rs1198007311
8 I>T No ClinGen
TOPMed
gnomAD
CA397758515
rs61753143
8 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397758529
rs4796555
10 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_024444
rs4796555
CA8332346
10 P>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8332347
rs770428705
11 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA8332348
rs778419218
12 D>H No ClinGen
ExAC
rs749711767
CA8332350
14 S>I No ClinGen
ExAC
gnomAD
rs749711767
CA8332349
14 S>N No ClinGen
ExAC
gnomAD
CA8332351
rs774739920
15 C>F No ClinGen
ExAC
gnomAD
CA287393399
rs887378122
16 W>* No ClinGen
TOPMed
CA8332352
rs759700825
17 A>T No ClinGen
ExAC
gnomAD
TCGA novel 20 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs78983367
CA8332355
21 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs78983367
CA8332356
21 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs146370414
CA8332357
25 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA397758736
rs1275816440
26 R>C No ClinGen
TOPMed
gnomAD
rs150934591
CA8332358
26 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150934591
CA397758739
26 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1597774462
CA397758860
33 D>N No ClinGen
Ensembl
rs1367304910
CA397758876
34 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs766116765
CA8332359
35 D>N No ClinGen
ExAC
gnomAD
CA287393425
rs964089461
37 S>F No ClinGen
TOPMed
gnomAD
CA397758921
rs1323632761
37 S>P No ClinGen
gnomAD
rs576606128
CA8332363
42 V>G No ClinGen
1000Genomes
ExAC
gnomAD
rs780924976
CA8332362
42 V>L No ClinGen
ExAC
gnomAD
CA397759034
rs1487372888
43 C>F No ClinGen
gnomAD
CA397759029
rs1487372888
43 C>Y No ClinGen
gnomAD
rs1228550171
CA397759097
46 W>C No ClinGen
TOPMed
gnomAD
rs1189760384
CA397759123
47 N>K No ClinGen
TOPMed
gnomAD
CA397759189
rs1319738131
50 M>T No ClinGen
gnomAD
rs542378940
CA287393438
51 Y>H No ClinGen
1000Genomes
CA8332365
rs778465960
53 A>T No ClinGen
ExAC
rs749792809
CA8332366
53 A>V No ClinGen
ExAC
gnomAD
rs973567392
CA287393446
56 W>* No ClinGen
TOPMed
CA8332367
rs200419578
57 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397759297
rs140674090
57 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8332370
rs140674090
57 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8332369
rs200419578
57 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369991116
CA8332371
60 T>I No ClinGen
ESP
ExAC
gnomAD
CA287393454
rs376499600
61 I>V No ClinGen
Ensembl
rs762819097
CA8332375
65 G>E No ClinGen
ExAC
gnomAD
CA8332374
rs776729788
65 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8332376
rs766279425
67 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs769937090
CA287393456
70 V>L No ClinGen
Ensembl
CA8332378
rs774019882
71 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1363430426
CA397759524
71 H>R No ClinGen
gnomAD
CA8332379
rs759399371
74 E>A No ClinGen
ExAC
gnomAD
rs1223419376
CA397759576
75 V>A No ClinGen
TOPMed
gnomAD
CA8332380
rs199871206
75 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397759568
rs199871206
75 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397759585
rs1294244730
76 E>G No ClinGen
gnomAD
rs1193176007
CA397759623
79 V>A No ClinGen
TOPMed
gnomAD
rs752366449
CA8332381
79 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1211818164
CA397759642
80 W>C No ClinGen
TOPMed
rs564185783
CA397759636
80 W>L No ClinGen
1000Genomes
ExAC
gnomAD
CA8332382
rs564185783
80 W>S No ClinGen
1000Genomes
ExAC
gnomAD
CA8332383
rs763720404
81 Y>H No ClinGen
ExAC
gnomAD
CA8332384
rs1555552099
82 V>I No ClinGen
Ensembl
rs1187619371
CA397759727
86 G>R No ClinGen
TOPMed
gnomAD
CA287393466
rs1055114273
86 G>V No ClinGen
gnomAD
CA8332386
rs753332309
87 R>C No ClinGen
ExAC
gnomAD
CA8332387
rs150271375
COSM179541
87 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373018115
CA397759786
CA397759784
90 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs556849207
CA287393478
90 E>K No ClinGen
TOPMed
rs780290851
CA8332391
92 L>P No ClinGen
ExAC
gnomAD
rs758744565
CA8332390
92 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 93 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1346518948
CA397759815
93 E>Q No ClinGen
gnomAD
TCGA novel 93 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8332392
rs747260135
95 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1360540386
CA397759871
97 M>L No ClinGen
TOPMed
CA287393484
rs991454223
98 N>D No ClinGen
TOPMed
gnomAD
rs569543359
CA8332394
99 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1352685189
CA624859726
100 Y>* No ClinGen
gnomAD
CA8332395
rs748190539
101 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1184929110
CA397759957
102 A>V No ClinGen
TOPMed
rs770840323
CA8332396
105 T>A No ClinGen
ExAC
gnomAD
TCGA novel 107 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397760028
rs1484321910
108 F>I No ClinGen
TOPMed
rs1237446447
CA397760047
109 Q>* No ClinGen
gnomAD
CA397760054
rs1482587217
109 Q>H No ClinGen
gnomAD
rs377353189
CA8332398
109 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8332399
rs200968555
110 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397760093
COSM1206838
rs1439472363
112 M>I large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8332400
rs775377350
112 M>T No ClinGen
ExAC
gnomAD
rs1317574379
CA397760083
112 M>V No ClinGen
TOPMed
CA8332402
rs763737793
113 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8332401
rs373411596
113 R>W Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1030033745
CA287393510
114 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8332403
rs753360062
115 L>F No ClinGen
ExAC
gnomAD
CA8332404
rs756781541
116 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA8332406
rs138977169
117 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8332405
rs138977169
117 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8332407
rs758859170
118 C>R No ClinGen
ExAC
gnomAD
CA397760184
rs1452655136
121 K>N No ClinGen
TOPMed
CA8332410
rs747313581
122 S>G No ClinGen
ExAC
gnomAD
rs755195237
CA8332411
124 N>D No ClinGen
ExAC
gnomAD
CA8332412
rs781471298
124 N>K No ClinGen
ExAC
gnomAD
CA287393526
rs889703951
125 R>C No ClinGen
TOPMed
CA397760224
rs889703951
125 R>G No ClinGen
TOPMed
rs200344565
CA8332413
125 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769894791
CA8332414
126 L>V No ClinGen
ExAC
gnomAD
rs1206201359
CA397760271
129 L>F No ClinGen
gnomAD
rs1597774688
CA397760281
130 S>P No ClinGen
Ensembl
CA397760293
rs1244209960
131 I>F No ClinGen
TOPMed
gnomAD
rs1244209960
CA397760292
131 I>V No ClinGen
TOPMed
gnomAD
rs1457607890
CA397760307
132 Q>E No ClinGen
gnomAD
rs1457607890
CA397760305
132 Q>K No ClinGen
gnomAD
rs1166377762
CA397760338
134 L>V No ClinGen
TOPMed
rs1567670837
CA397760344
135 E>K No ClinGen
Ensembl
rs139725230
CA8332415
138 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs536953500
CA8332416
138 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs536953500
CA397760392
138 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8332417
rs1555552120
140 V>I No ClinGen
Ensembl
rs1470667601
CA397760421
141 W>* No ClinGen
gnomAD
rs772078290
CA8332419
141 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA397760442
rs1486326990
142 R>S No ClinGen
TOPMed
rs1177085220
CA397760453
143 N>S No ClinGen
gnomAD
rs1399396548
CA397760488
145 I>M No ClinGen
gnomAD
CA397760509
rs1444347296
147 S>N No ClinGen
gnomAD
CA8332420
rs775432290
151 S>C No ClinGen
ExAC
gnomAD
CA287393537
rs1025359121
152 S>I No ClinGen
Ensembl
CA287393541
rs759206032
154 S>R No ClinGen
TOPMed
rs199763057
CA8332423
155 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397760618
rs199763057
155 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397760622
rs1321517465
156 F>L No ClinGen
gnomAD
CA397760642
rs928232682
158 K>N No ClinGen
TOPMed
rs1009302010
CA287393544
158 K>R No ClinGen
TOPMed
gnomAD
rs375015434
CA8332424
159 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397760652
rs1317799694
160 M>L No ClinGen
TOPMed
gnomAD
rs1317799694
CA397760654
160 M>V No ClinGen
TOPMed
gnomAD
TCGA novel 162 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8332427
rs147096286
163 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8332428
rs138467906
163 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397760727
rs1393176123
165 D>A No ClinGen
TOPMed
CA397760721
rs1438073990
165 D>Y No ClinGen
TOPMed
VAR_049050
CA8332429
rs16956264
166 Y>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA397760740
rs16956264
166 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8332430
rs751985308
168 N>T No ClinGen
ExAC
gnomAD
CA397760775
rs1183215986
169 L>Q No ClinGen
gnomAD
CA287393559
rs915258169
170 K>R No ClinGen
TOPMed
gnomAD
CA397760805
rs1422245000
171 G>A No ClinGen
gnomAD
CA397760803
rs1422245000
171 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 172 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752994888
CA8332433
172 A>T No ClinGen
ExAC
gnomAD
rs1169564645
CA397760828
173 R>G No ClinGen
TOPMed
gnomAD
CA397760841
rs1468071224
173 R>S No ClinGen
TOPMed
CA8332435
rs148718442
176 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1343824610
CA397761017
182 I>N No ClinGen
gnomAD
CA8332438
rs772204934
COSM1661823
184 D>N kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1226427560
CA397761110
187 S>T No ClinGen
TOPMed
CA397761121
rs1339910521
188 Y>H No ClinGen
gnomAD
rs1272426771
CA397761148
189 M>L No ClinGen
TOPMed
gnomAD
rs780129786
CA8332439
189 M>T No ClinGen
ExAC
gnomAD
rs1272426771
CA397761146
189 M>V No ClinGen
TOPMed
gnomAD
rs768471007
CA8332441
192 E>K No ClinGen
ExAC
gnomAD
CA397761287
rs1222740488
194 V>M No ClinGen
gnomAD
CA8332443
rs200840096
195 I>F No ClinGen
1000Genomes
ExAC
gnomAD
rs761545468
CA8332444
195 I>M No ClinGen
ExAC
gnomAD
CA397761370
rs1426211952
198 L>V No ClinGen
gnomAD
rs755675137
CA397761409
200 I>N No ClinGen
gnomAD
CA287393593
rs755675137
200 I>T No ClinGen
gnomAD
CA8332446
COSM244474
rs546513446
201 E>K prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs762444514
CA8332448
202 D>V No ClinGen
ExAC
gnomAD
CA8332449
rs766928241
203 Y>C No ClinGen
ExAC
gnomAD
CA397761474
rs1288183802
203 Y>H No ClinGen
Ensembl
CA397761512
rs1446841473
204 F>S No ClinGen
gnomAD
CA8332450
rs200058448
205 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1567670943
CA397761555
206 H>Y No ClinGen
Ensembl
CA8332452
rs767947605
209 A>S No ClinGen
ExAC
gnomAD
rs1388969710
CA397761608
210 V>I No ClinGen
TOPMed
CA397761627
rs1394968378
211 Y>C No ClinGen
TOPMed
CA397761648
rs1298170830
212 N>I No ClinGen
TOPMed
CA397761663
rs1244658497
213 S>N No ClinGen
gnomAD
CA8332454
rs752947385
213 S>R No ClinGen
ExAC
gnomAD
CA397761701
CA397761700
rs1246341334
215 Q>H No ClinGen
gnomAD
CA397761694
rs1430787481
215 Q>R No ClinGen
TOPMed
CA8332456
rs778139105
216 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA8332457
rs754032139
220 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs4143218
CA8332458
VAR_049051
221 S>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8332460
rs372175030
223 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8332461
rs372175030
223 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1386926679
CA397761860
225 N>S No ClinGen
gnomAD
CA287393626
rs11655689
227 V>E No ClinGen
Ensembl
CA287393623
rs1006782914
227 V>L No ClinGen
Ensembl
CA397761905
rs1445015921
228 S>F No ClinGen
gnomAD
CA397761934
rs1220857034
230 N>S No ClinGen
TOPMed
gnomAD
VAR_024445
CA8332463
rs1509123
231 L>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA287393632
rs1509123
231 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8332464
rs769558510
231 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA8332465
rs769558510
231 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs941531074
CA287393640
234 N>T No ClinGen
TOPMed
CA397762020
rs1327453247
236 I>F No ClinGen
Ensembl
CA397762045
rs1396018323
237 S>F No ClinGen
gnomAD
rs773802168
COSM1206836
CA8332468
238 D>N large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA397762081
rs1333535550
239 E>D No ClinGen
TOPMed
rs767844011
CA8332470
239 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA397762083
rs1306885025
240 L>M No ClinGen
TOPMed
CA397762150
rs1314726818
244 L>S No ClinGen
gnomAD
COSM983445
rs369101262
CA287393649
245 C>Y Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
CA397762177
rs1240711845
246 E>K No ClinGen
gnomAD
CA397762196
rs932927041
247 N>H No ClinGen
TOPMed
gnomAD
rs932927041
CA287393651
247 N>Y No ClinGen
TOPMed
gnomAD
CA397762230
rs1434279104
251 L>H No ClinGen
TOPMed
rs200692290
CA8332474
252 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8332473
rs764456683
252 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8332475
rs201661413
255 N>T No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 256 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750415033
CA8332477
257 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8332478
rs200096915
258 C>R No ClinGen
1000Genomes
ExAC
gnomAD
rs780990747
CA8332479
259 H>Y No ClinGen
ExAC
gnomAD
CA397762282
rs114913476
260 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8332481
COSM1385614
RCV000959341
rs114913476
260 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA287393671
rs991077799
263 P>H No ClinGen
TOPMed
gnomAD
CA397762305
rs1408872260
263 P>S No ClinGen
gnomAD
CA287393673
rs375399858
CA397762314
264 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8332484
rs770512910
265 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA8332483
rs202030641
265 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773855285
CA8332485
266 Q>* No ClinGen
ExAC
gnomAD
rs745363712
CA8332486
266 Q>H No ClinGen
ExAC
gnomAD
rs865974781
CA287393680
269 W>* No ClinGen
Ensembl
CA8332487
rs772690535
270 G>D No ClinGen
ExAC
gnomAD
rs772690535
CA397762350
270 G>V No ClinGen
ExAC
gnomAD
rs1197910422
CA397762360
272 S>T No ClinGen
gnomAD
rs1567671063
CA397762380
274 A>V No ClinGen
Ensembl
rs978110759
CA287393686
275 K>* No ClinGen
gnomAD
rs1330491304
CA397762388
276 L>M No ClinGen
gnomAD
rs1291748807
CA397762397
277 A>G No ClinGen
TOPMed
rs183581445
CA8332493
278 R>M No ClinGen
1000Genomes
ExAC
gnomAD
CA8332494
rs144312029
279 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750586807
CA8332495
282 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA397762448
rs1431508802
285 V>A No ClinGen
gnomAD
CA397762449
rs1431508802
285 V>G No ClinGen
gnomAD
CA8332498
rs528227620
286 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1336379858
CA397762453
286 N>T No ClinGen
TOPMed
rs752546854
CA8332499
287 F>L No ClinGen
ExAC
gnomAD
CA287393698
rs561955531
288 F>L No ClinGen
Ensembl
rs372299377
CA8332500
288 F>L No ClinGen
ESP
ExAC
gnomAD
CA8332501
rs200774821
289 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397762472
rs1160034969
289 F>V No ClinGen
TOPMed
CA8332503
rs756968972
291 R>Q No ClinGen
ExAC
gnomAD
CA8332502
rs149057361
291 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397762500
rs1345578429
293 M>R No ClinGen
gnomAD
CA8332505
rs142087585
294 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8332504
rs142087585
294 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779573380
CA8332507
296 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs747537634
CA8332508
COSM983451
297 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8332509
rs769232319
297 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8332511
rs200974896
299 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA8332512
rs770201697
300 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs770201697
CA8332513
300 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8332514
rs558767788
300 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1186451312
CA397762560
303 L>S No ClinGen
gnomAD
rs766401032
CA8332515
304 Q>* No ClinGen
ExAC
gnomAD
rs1430686956
CA397762572
305 E>K No ClinGen
gnomAD
CA8332516
rs751609367
306 I>F No ClinGen
ExAC
gnomAD
rs536666264
CA8332517
307 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397762587
rs1422424409
307 P>L No ClinGen
gnomAD
rs536666264
CA397762585
307 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397762591
rs1597775110
308 I>F No ClinGen
Ensembl
rs373266699
CA8332519
309 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757022078
CA8332520
311 I>V No ClinGen
ExAC
gnomAD
CA397762677
rs778665808
314 R>I No ClinGen
ExAC
TOPMed
gnomAD
CA8332521
rs778665808
314 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA8332522
rs750071463
314 R>S No ClinGen
ExAC
gnomAD
rs758016899
CA8332523
315 S>G No ClinGen
ExAC
gnomAD
CA8332524
rs779439278
315 S>R No ClinGen
ExAC
gnomAD
CA397762691
rs1311807573
315 S>T No ClinGen
TOPMed
gnomAD
rs1225459657
CA397762707
316 C>S No ClinGen
TOPMed
rs1225459657
CA397762710
316 C>Y No ClinGen
TOPMed
CA397762726
rs1244146159
317 Y>C No ClinGen
gnomAD
CA8332525
rs746456824
322 D>A No ClinGen
ExAC
gnomAD
CA397762809
rs746456824
322 D>G No ClinGen
ExAC
gnomAD
rs1215099781
CA397762875
325 M>I No ClinGen
gnomAD
rs376123264
CA8332526
325 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1240897962
CA397762893
326 R>I No ClinGen
TOPMed
gnomAD
rs1240897962
CA397762887
326 R>K No ClinGen
TOPMed
gnomAD
rs1487160808
CA397762897
326 R>S No ClinGen
gnomAD
rs1240897962
CA397762890
326 R>T No ClinGen
TOPMed
gnomAD
CA8332527
rs200108762
328 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200108762
CA397762935
328 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8332530
rs377424506
330 I>L No ClinGen
ESP
ExAC
gnomAD
rs1193811495
CA397763027
333 L>M No ClinGen
gnomAD
CA397763047
rs1346435926
334 P>R No ClinGen
gnomAD
rs1156360829
CA397763041
334 P>S No ClinGen
TOPMed
gnomAD
rs774361072
CA8332534
337 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8332533
rs201119465
337 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1221424175
CA397763134
338 H>Q No ClinGen
TOPMed
rs759597076
CA8332535
338 H>R No ClinGen
ExAC
gnomAD
CA397763148
rs1452719497
339 T>I No ClinGen
TOPMed
CA8332536
rs764065256
340 L>V No ClinGen
ExAC
gnomAD
CA397763185
rs1282316678
341 Q>R No ClinGen
gnomAD
TCGA novel 343 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8332557
rs765151090
344 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs141897477
CA8332555
344 T>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8332556
rs141897477
344 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397735517
rs765151090
344 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1396417549
CA397735519
345 C>R No ClinGen
TOPMed
CA8332559
rs762799823
345 C>Y No ClinGen
ExAC
gnomAD
CA397735534
rs1342375688
347 F>L No ClinGen
gnomAD
CA397735542
rs1426551252
348 N>D No ClinGen
gnomAD
rs370487511
CA8332563
348 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8332562
rs370487511
348 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8332564
rs767159771
350 N>H No ClinGen
ExAC
gnomAD
CA397735559
rs1430973646
350 N>I No ClinGen
TOPMed
rs1395513019
CA397735572
352 E>* No ClinGen
TOPMed
gnomAD
rs1395513019
CA397735570
352 E>K No ClinGen
TOPMed
gnomAD
rs752196704
CA8332565
353 S>A No ClinGen
ExAC
gnomAD
rs756584502
CA8332566
353 S>L No ClinGen
ExAC
gnomAD
rs1567672363
CA397735584
354 L>V No ClinGen
Ensembl
rs555381081
CA8332571
COSM1963585
355 D>E haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1597777858
CA397735591
355 D>G No ClinGen
Ensembl
CA8332569
rs757609993
355 D>N No ClinGen
ExAC
gnomAD
CA397735594
COSM1750265
rs772219882
356 E>* urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8332572
rs772219882
356 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8332573
rs772219882
356 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA397735601
rs1225965291
357 E>Q No ClinGen
gnomAD
rs568654244
CA8332575
359 H>L No ClinGen
1000Genomes
ExAC
CA397735638
rs17853331
362 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762700116
CA8332578
363 I>L No ClinGen
ExAC
gnomAD
rs7213731
CA8332579
VAR_024446
363 I>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8332577
rs762700116
363 I>V No ClinGen
ExAC
gnomAD
TCGA novel 365 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8332581
rs767212969
367 K>R No ClinGen
ExAC
gnomAD
CA8332582
rs752313021
369 F>L No ClinGen
ExAC
gnomAD
CA8332583
rs577479036
COSM4151724
371 F>L kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA397735694
rs1200076502
COSM4151724
371 F>L kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA8332584
rs764547416
373 I>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 373 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397735725
rs1169464830
375 A>S No ClinGen
TOPMed
gnomAD
rs1419935393
CA397735726
375 A>V No ClinGen
gnomAD
CA8332585
rs189049648
376 F>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1597777925
CA397735754
379 V>G No ClinGen
Ensembl
CA397735760
rs1299556412
380 S>T No ClinGen
TOPMed
rs750714939
CA8332589
384 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs996532924
CA287360373
384 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1029525785
CA287360394
388 S>N No ClinGen
TOPMed
gnomAD
rs1289063658
CA397735835
391 E>A No ClinGen
gnomAD
rs142490988
CA8332592
392 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397735841
rs1490703546
392 R>W No ClinGen
TOPMed
gnomAD
rs780245730
CA8332593
393 Q>E No ClinGen
ExAC
gnomAD
rs1252882390
CA397735853
394 C>G No ClinGen
TOPMed
CA8332594
rs138846870
397 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768752968
CA8332595
397 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA397735876
rs1213197128
398 V>L No ClinGen
TOPMed
COSM179547
CA8332642
rs761295686
401 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765786163
CA8332643
403 I>V No ClinGen
ExAC
gnomAD
rs1201666723
CA397735935
405 T>A No ClinGen
gnomAD
rs775749801
CA8332645
407 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs766792237
CA397735950
407 R>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs766792237
CA8332646
407 R>K No ClinGen
ExAC
gnomAD
CA287360969
rs946596450
408 Y>* No ClinGen
Ensembl
CA397735967
rs1201253982
409 E>D No ClinGen
gnomAD
rs571164016
CA397735971
410 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs571164016
CA8332647
410 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8332649
rs767629010
413 E>K No ClinGen
ExAC
TOPMed
TCGA novel 416 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 418 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287360977
rs991629302
418 Q>K No ClinGen
TOPMed
CA8332650
rs752883493
419 E>* No ClinGen
ExAC
gnomAD
rs1415156164
CA397736038
420 I>V No ClinGen
TOPMed
CA397736048
rs1567672592
421 Y>C No ClinGen
Ensembl
CA397736060
rs1297275880
423 K>E No ClinGen
TOPMed
gnomAD
CA8332653
rs368835979
425 R>K No ClinGen
ESP
ExAC
gnomAD
rs777960207
CA397736101
428 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs775055409
CA8332655
429 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA397736102
rs775055409
429 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA397736113
rs1221685157
430 S>* No ClinGen
gnomAD
rs1312578252
CA397736119
431 E>G No ClinGen
gnomAD
rs1226366407
CA397736125
432 L>F No ClinGen
gnomAD
rs758349334
CA8332656
434 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA397736144
rs1597778356
435 F>I No ClinGen
Ensembl
CA8332657
rs779900966
435 F>S No ClinGen
ExAC
gnomAD
rs138472328
CA287361077
COSM109570
436 V>D skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA8332658
rs746771101
437 I>V No ClinGen
ExAC
gnomAD
rs776128884
CA8332661
438 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA8332660
rs776128884
438 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA397736162
rs776128884
438 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs933927170
CA287361085
440 S>Y No ClinGen
gnomAD
CA397736183
rs1170243351
441 V>A No ClinGen
gnomAD
CA397736179
rs1467443356
441 V>M No ClinGen
TOPMed
rs1371680927
CA397736195
443 M>Q No ClinGen
gnomAD

No associated diseases with Q8N4B4

9 regional properties for Q8N4B4

Type Name Position InterPro Accession
domain F-box domain 5 - 46 IPR001810
repeat Leucine-rich repeat, cysteine-containing subtype 100 - 124 IPR006553-1
repeat Leucine-rich repeat, cysteine-containing subtype 125 - 150 IPR006553-2
repeat Leucine-rich repeat, cysteine-containing subtype 309 - 332 IPR006553-3
repeat Leucine-rich repeat, cysteine-containing subtype 367 - 391 IPR006553-4
repeat Leucine-rich repeat, cysteine-containing subtype 427 - 450 IPR006553-5
repeat Leucine-rich repeat, cysteine-containing subtype 476 - 500 IPR006553-6
domain Transport inhibitor response 1 domain 62 - 108 IPR041101
domain COI1, F-box 5 - 43 IPR041567

Functions

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

1 GO annotations of cellular component

Name Definition
SCF ubiquitin ligase complex A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1).

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9UKT7 FBXL3 F-box/LRR-repeat protein 3 Homo sapiens (Human) PR
Q8N461 FBXL16 F-box/LRR-repeat protein 16 Homo sapiens (Human) PR
Q5XUX0 FBXO31 F-box only protein 31 Homo sapiens (Human) PR
Q8C4V4 Fbxl3 F-box/LRR-repeat protein 3 Mus musculus (Mouse) PR
Q8BH70 Fbxl4 F-box/LRR-repeat protein 4 Mus musculus (Mouse) PR
Q9ZR12 GRH1 GRR1-like protein 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LTX2 At5g49980 Transport inhibitor response 1-like protein Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MDEESELIQP QDQSCWAFLP DLCLCRVFWW LGDRDRSRAA LVCRKWNQMM YSAELWRYRT
70 80 90 100 110 120
ITFSGRPSRV HASEVESAVW YVKKFGRYLE HLEVKFMNPY NAVLTKKFQV TMRGLLSCLS
130 140 150 160 170 180
KSNNRLKSLS IQYLELDRLV WRNSIRSSFI SSLSFFLKKM GKRLDYLNLK GARLTVEQGC
190 200 210 220 230 240
QILDSLSYMR NENVISELNI EDYFSHHLAV YNSPQFKKTM STFHNLVSLN LNYNCISDEL
250 260 270 280 290 300
LENLCENAST LRTINIKCHV HDPHGQVIWG MSWAKLARQA TNLKVNFFFE RIMKYERLAR
310 320 330 340 350 360
ILLQEIPIRS ISLRSCYFSD PDCSMRPTLI DLLPTFRHTL QKLTCEFNNN HESLDEELHL
370 380 390 400 410 420
LIISCRKLFY FKIWAFLDVS FVERILKSQK ERQCALRVFK ARIYTNRYET NEEDKTLQEI
430 440
YRKYRKLIES ELSYFVIVYS VM