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 Q9ULS6

Entry ID Method Resolution Chain Position Source
AF-Q9ULS6-F1 Predicted AlphaFoldDB

351 variants for Q9ULS6

Variant ID(s) Position Change Description Diseaes Association Provenance
rs773390011
CA4821337
2 T>N No ClinGen
ExAC
gnomAD
rs766499929
CA4821339
3 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA371847502
rs766499929
3 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1156789529
CA371847530
7 W>* No ClinGen
gnomAD
rs199762721
CA4821341
7 W>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA182738210
rs1024886858
8 D>Y No ClinGen
TOPMed
gnomAD
rs767207753
CA4821343
9 V>L No ClinGen
ExAC
gnomAD
CA4821342
rs767207753
9 V>M No ClinGen
ExAC
gnomAD
rs777451821
CA182738216
10 S>* No ClinGen
ExAC
gnomAD
TCGA novel 10 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs971244387
CA371847547
10 S>P No ClinGen
TOPMed
CA182738214
rs971244387
COSM343788
10 S>T lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs777451821
CA4821345
10 S>W No ClinGen
ExAC
gnomAD
rs778488316
CA4821348
11 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 14 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4821350
rs769263958
14 V>L No ClinGen
ExAC
gnomAD
CA371847577
rs1186787704
15 E>Q No ClinGen
TOPMed
rs140515528
CA4821356
16 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4821354
rs773516630
16 D>N No ClinGen
ExAC
gnomAD
rs144362730
CA4821358
CA4821359
17 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144362730
CA4821357
17 G>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4821361
rs760414695
18 E>Q No ClinGen
ExAC
gnomAD
CA4821362
rs763909604
18 E>V No ClinGen
ExAC
gnomAD
rs201468098
CA4821364
20 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA182738236
rs972833387
20 R>H No ClinGen
TOPMed
gnomAD
CA371847610
rs1326122049
21 I>L No ClinGen
gnomAD
CA371847629
rs1319307633
23 V>A No ClinGen
TOPMed
CA371847625
rs1239828977
23 V>M No ClinGen
TOPMed
rs781775868
CA4821368
26 F>L No ClinGen
ExAC
gnomAD
rs748684605
CA4821369
27 K>E No ClinGen
ExAC
gnomAD
CA182738244
rs933828984
27 K>N No ClinGen
TOPMed
CA371847664
rs1334567989
29 R>W No ClinGen
gnomAD
CA371847677
rs1275336080
31 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs943624688
CA182738245
31 R>S No ClinGen
gnomAD
CA371847684
rs1436279030
32 S>W No ClinGen
gnomAD
CA371847687
rs1203917754
33 H>Y No ClinGen
gnomAD
rs140159901
CA4821370
36 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1480950741
CA371847710
37 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1184225176
CA371847712
37 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA371847729
rs1365533034
40 E>K No ClinGen
TOPMed
CA4821373
rs771255852
41 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1407855949
CA371847749
43 L>V No ClinGen
gnomAD
TCGA novel 48 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4821377
rs758514346
52 R>C No ClinGen
ExAC
gnomAD
CA182738257
rs911026515
52 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1586557402
CA371847845
58 L>F No ClinGen
Ensembl
rs1563599625
CA371847880
62 Y>* No ClinGen
Ensembl
TCGA novel 64 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 68 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4821381
rs761366150
70 Y>H No ClinGen
ExAC
gnomAD
CA371847945
rs572431917
71 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1309297540
CA371847941
71 F>V No ClinGen
gnomAD
CA4821383
rs749873859
72 D>A No ClinGen
ExAC
gnomAD
rs1255341726
CA371847948
72 D>H No ClinGen
TOPMed
gnomAD
rs1255341726
CA371847949
72 D>Y No ClinGen
TOPMed
gnomAD
TCGA novel 73 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA182738268
rs567295212
73 R>G No ClinGen
TOPMed
gnomAD
CA4821384
rs757872023
73 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA371847955
rs567295212
73 R>S No ClinGen
TOPMed
gnomAD
CA371847962
rs1166929222
74 N>S No ClinGen
gnomAD
CA371847969
rs1419741727
75 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM257209
CA4821385
rs766014301
CA182738273
76 E>D Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA371847982
rs1171136504
77 L>P No ClinGen
gnomAD
rs1415930880
CA371847997
79 P>L No ClinGen
gnomAD
rs1171041080
CA371847994
79 P>S No ClinGen
TOPMed
gnomAD
CA4821387
rs756745133
81 V>A No ClinGen
ExAC
gnomAD
CA4821386
rs753185856
81 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA371848030
rs1271020015
84 F>L No ClinGen
gnomAD
rs778282146
CA4821388
87 T>A No ClinGen
ExAC
gnomAD
CA4821389
rs749707358
90 L>F No ClinGen
ExAC
rs757398784
CA4821390
92 V>A No ClinGen
ExAC
gnomAD
CA371848092
rs1452920968
93 M>I No ClinGen
Ensembl
CA371848087
rs1279704268
93 M>K No ClinGen
gnomAD
CA182738281
rs779927912
94 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA4821391
rs779149114
97 C>R No ClinGen
ExAC
gnomAD
CA371848118
rs1398583859
98 V>I No ClinGen
gnomAD
rs1418980185
CA371848136
100 S>F No ClinGen
TOPMed
rs772074757
CA4821393
102 S>I No ClinGen
ExAC
gnomAD
TCGA novel 104 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4821396
COSM2792634
rs373045610
106 E>K Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs1393940932
CA371848201
109 G>C No ClinGen
gnomAD
CA371848215
rs1174796565
111 N>H No ClinGen
gnomAD
rs1013751347
CA182738286
111 N>K No ClinGen
TOPMed
rs1383383175
CA371848244
115 I>L No ClinGen
gnomAD
rs1400510344
CA371848248
115 I>T No ClinGen
gnomAD
rs1391201111
CA371848287
120 S>R No ClinGen
gnomAD
rs144881255
CA4821399
121 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1302835506
CA371848298
122 S>C No ClinGen
gnomAD
CA4821400
rs772878262
124 H>R No ClinGen
ExAC
gnomAD
CA371848322
rs1235464282
125 G>D No ClinGen
gnomAD
rs765976410
CA4821402
COSM1674021
126 R>C Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1215945422
CA371848329
126 R>L No ClinGen
TOPMed
TCGA novel 127 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756661331
CA4821404
128 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA371848338
rs1284687712
128 V>I No ClinGen
gnomAD
rs1283072790
CA371848351
130 P>T No ClinGen
TOPMed
CA4821407
rs757602152
131 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA4821406
rs376045564
131 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA182738298
rs1024200511
132 Q>K No ClinGen
TOPMed
CA4821409
rs779150579
134 K>R No ClinGen
ExAC
gnomAD
rs1470074390
CA371848388
135 W>* No ClinGen
gnomAD
rs1159570482
CA371848400
136 D>E No ClinGen
gnomAD
TCGA novel 137 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371848418
rs541434350
139 S>G No ClinGen
1000Genomes
TOPMed
gnomAD
CA182738304
rs541434350
139 S>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA371848439
rs1398828027
141 Q>H No ClinGen
TOPMed
rs1460111678
CA371848458
144 T>A No ClinGen
gnomAD
rs758675215
CA371848460
144 T>I No ClinGen
ExAC
gnomAD
CA4821411
rs758675215
144 T>N No ClinGen
ExAC
gnomAD
CA4821412
rs780101812
145 T>M No ClinGen
ExAC
gnomAD
rs866829393
CA182738309
COSM1102900
149 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1563599829
CA371848520
153 A>V No ClinGen
Ensembl
rs34615041
CA182738317
154 F>V No ClinGen
Ensembl
rs199526084
CA182738321
156 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4821417
rs769562533
156 N>S No ClinGen
ExAC
gnomAD
CA4821416
rs748062861
156 N>Y No ClinGen
ExAC
gnomAD
CA371848551
rs1488567981
158 A>S No ClinGen
TOPMed
gnomAD
CA371848549
rs1488567981
158 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs770749773
CA4821420
158 A>V No ClinGen
ExAC
gnomAD
rs749919384
CA182738326
159 S>C No ClinGen
TOPMed
gnomAD
rs749919384
CA371848557
159 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1198961836
CA371848566
160 K>N No ClinGen
Ensembl
CA371848574
rs1183130669
161 F>L No ClinGen
TOPMed
gnomAD
CA4821422
rs759068889
162 D>N No ClinGen
ExAC
gnomAD
CA4821423
COSM1458831
rs145156738
163 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4821427
rs765619596
167 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs987283877
CA182738337
168 N>I No ClinGen
TOPMed
rs987283877
CA371848615
168 N>T No ClinGen
TOPMed
CA371848622
rs1390786569
169 F>Y No ClinGen
gnomAD
rs1308589032
CA371848630
170 R>H Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA371848632
rs1308589032
170 R>L No ClinGen
gnomAD
CA371848654
rs1260232955
174 W>R No ClinGen
TOPMed
CA371848657
rs1280450341
174 W>S No ClinGen
TOPMed
gnomAD
rs750851877
CA182738339
176 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA4821428
rs750851877
176 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs750851877
CA371848670
176 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA371848674
rs1586557610
177 L>P No ClinGen
Ensembl
CA371848679
rs1586557612
178 D>G No ClinGen
Ensembl
rs1586557614
CA371848687
179 N>T No ClinGen
Ensembl
rs758587162
CA4821429
180 P>T No ClinGen
ExAC
gnomAD
rs942498856
CA182738344
181 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1322013787
CA371848721
184 V>A No ClinGen
gnomAD
rs1338045934
CA371848725
185 L>P No ClinGen
TOPMed
gnomAD
rs1195697694
CA371848728
186 S>G No ClinGen
gnomAD
CA371848736
rs1271756572
187 R>G No ClinGen
TOPMed
gnomAD
rs1246511291
CA371848737
187 R>K No ClinGen
gnomAD
CA371848747
rs1586557635
188 V>G No ClinGen
Ensembl
TCGA novel 190 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371848769
rs1217558358
191 I>N No ClinGen
TOPMed
rs201122636
CA4821432
204 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs971300379
CA182738346
204 M>V No ClinGen
TOPMed
gnomAD
CA4821433
rs201740520
205 C>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 205 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 206 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371848878
rs1254614285
208 S>N No ClinGen
gnomAD
CA371848888
rs1339769577
210 P>T No ClinGen
TOPMed
COSM1102902
CA4821436
rs138992941
211 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA371848918
rs1170155388
214 I>V No ClinGen
TOPMed
CA4821437
rs749147597
215 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA371848926
rs1462044926
215 P>T No ClinGen
TOPMed
CA182738355
rs925173886
216 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 221 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770876236
CA4821438
221 P>R No ClinGen
ExAC
gnomAD
CA4821439
rs774106966
222 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs771554393
CA4821441
223 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs774922579
CA4821442
224 D>G No ClinGen
ExAC
gnomAD
rs1235988192
CA371848985
224 D>Y No ClinGen
TOPMed
TCGA novel 225 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762376533
CA4821443
226 R>S No ClinGen
ExAC
gnomAD
CA371849016
rs1334947846
228 E>D No ClinGen
TOPMed
CA371849010
COSM3432668
rs1325431545
228 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1276152493
CA371849024
229 I>M No ClinGen
TOPMed
gnomAD
CA371849022
rs1228502968
229 I>T No ClinGen
gnomAD
rs1346414153
CA371849029
230 V>A No ClinGen
gnomAD
rs1226092983
CA371849026
230 V>L No ClinGen
TOPMed
rs917570715
CA182738366
231 E>G No ClinGen
TOPMed
rs910548275
CA371849038
232 H>D No ClinGen
gnomAD
CA182738368
rs910548275
232 H>Y No ClinGen
gnomAD
CA4821445
rs765702013
235 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA371849069
rs1444114392
236 A>V No ClinGen
TOPMed
CA371849074
rs1374307438
237 W>* No ClinGen
TOPMed
CA371849095
rs1441866449
240 F>L No ClinGen
TOPMed
CA4821446
rs763254980
243 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA182738376
rs747283529
245 R>S No ClinGen
Ensembl
CA371849142
rs1185090151
247 A>S No ClinGen
gnomAD
CA4821448
rs751710987
253 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA371849204
rs1190671679
256 F>Y No ClinGen
gnomAD
CA371849225
rs1586557724
259 A>T No ClinGen
Ensembl
CA4821450
rs781316152
260 L>P No ClinGen
ExAC
gnomAD
TCGA novel 260 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371849232
rs1452553524
260 L>V No ClinGen
TOPMed
gnomAD
rs1426643052
CA371849248
262 L>R No ClinGen
gnomAD
rs778907852
CA182738384
265 L>F No ClinGen
Ensembl
CA371849277
rs1301304122
266 M>I No ClinGen
gnomAD
CA4821452
rs756060141
268 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA182738386
rs756060141
268 I>V No ClinGen
ExAC
TOPMed
gnomAD
COSM1102905
RCV000897754
CA4821454
rs142144460
269 V>I oesophagus endometrium [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs757047371
CA4821455
273 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4821456
rs532560696
274 T>I No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 276 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775032317
CA4821459
278 N>K No ClinGen
ExAC
gnomAD
rs746548261
CA4821460
279 L>P No ClinGen
ExAC
gnomAD
CA371849367
rs773665267
282 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA4821462
rs773665267
282 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs763452259
CA4821463
283 S>N No ClinGen
ExAC
gnomAD
rs143746607
CA4821465
284 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759775317
CA4821467
285 P>A No ClinGen
ExAC
gnomAD
rs1362786078
CA371849392
286 T>A No ClinGen
Ensembl
CA4821468
rs767684188
289 N>T No ClinGen
ExAC
gnomAD
CA371849426
rs1351275452
291 G>S No ClinGen
TOPMed
CA4821471
rs764274573
293 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA182738413
rs909380214
293 V>L No ClinGen
Ensembl
rs1293532424
CA371849464
297 L>P No ClinGen
gnomAD
CA182738419
rs867677463
298 R>M No ClinGen
Ensembl
rs894124156
CA182738421
299 L>P No ClinGen
Ensembl
rs757324627
CA4821473
300 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA4821475
rs745687970
301 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758043614
CA4821476
302 I>F No ClinGen
ExAC
CA4821478
rs200723055
304 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4821479
rs370705767
304 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA371849511
rs771492184
305 I>M No ClinGen
ExAC
gnomAD
rs749779842
CA4821481
305 I>V No ClinGen
ExAC
rs141882203
CA4821483
307 K>R No ClinGen
ESP
ExAC
rs1489452208
CA371849536
309 A>V No ClinGen
gnomAD
CA4821484
rs759771726
311 H>Q No ClinGen
ExAC
gnomAD
rs567674235
CA4821486
316 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760969781
CA4821487
316 R>L No ClinGen
ExAC
gnomAD
CA4821488
rs764260125
317 S>Y No ClinGen
ExAC
gnomAD
rs754040509
CA4821489
319 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA371849593
rs754040509
319 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1164928487
CA371849594
320 A>T No ClinGen
gnomAD
CA371849603
rs1468146854
321 T>I No ClinGen
Ensembl
TCGA novel 324 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4821490
rs757227097
328 E>D No ClinGen
ExAC
gnomAD
rs998735488
CA182738444
330 G>R No ClinGen
TOPMed
rs1487296943
CA371849699
335 Y>F No ClinGen
TOPMed
rs957469599
CA182738449
336 L>V No ClinGen
Ensembl
rs1563600145
CA371849726
338 V>L No ClinGen
Ensembl
CA371849749
rs1586557884
340 I>N No ClinGen
Ensembl
rs1160438386
CA371849744
340 I>V No ClinGen
Ensembl
CA4821495
rs751114787
342 I>L No ClinGen
ExAC
gnomAD
rs1292166146
CA371849769
342 I>T No ClinGen
gnomAD
rs1586557896
CA371849782
343 F>S No ClinGen
Ensembl
CA4821497
rs139025562
344 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769318500
CA4821499
345 V>M No ClinGen
ExAC
gnomAD
CA371849818
rs1472287991
347 A>S No ClinGen
TOPMed
gnomAD
COSM1662390
CA371849819
rs1472287991
347 A>T kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA371849824
rs1272046196
347 A>V No ClinGen
TOPMed
rs746391617
CA4821502
350 I>M No ClinGen
ExAC
gnomAD
CA4821503
rs772271323
351 E>K No ClinGen
ExAC
gnomAD
CA371849899
rs1398212581
354 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs775985081
CA4821504
355 N>Y No ClinGen
ExAC
gnomAD
rs1563600185
CA371849930
356 E>D No ClinGen
Ensembl
rs769042324
CA4821506
356 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4821507
rs776827428
357 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs761932638
CA4821508
359 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs761932638
CA371849955
359 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA371849960
rs1357735601
359 A>V No ClinGen
TOPMed
rs1586557929
CA371849962
360 T>P No ClinGen
Ensembl
rs963859388
CA182738463
362 P>L No ClinGen
TOPMed
gnomAD
CA4821510
rs765435145
363 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs765435145
COSM1319677
CA4821509
363 A>V Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs976059421
CA182738466
364 C>S No ClinGen
Ensembl
CA371850048
rs1563600201
367 W>* No ClinGen
Ensembl
rs751437110
COSM221433
CA4821513
370 V>I Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA371850118
rs1207181609
373 T>S No ClinGen
gnomAD
CA371850162
rs371574913
377 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1586557956
CA371850153
377 Y>D No ClinGen
Ensembl
TCGA novel 377 Y>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374343304
CA4821516
CA4821515
378 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 379 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371850177
rs755556276
379 D>N No ClinGen
ExAC
gnomAD
CA4821517
rs755556276
379 D>Y No ClinGen
ExAC
gnomAD
rs1187451066
CA371850195
381 V>I No ClinGen
gnomAD
CA182738481
rs909380784
384 T>I No ClinGen
TOPMed
gnomAD
rs201873843
CA4821522
385 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM2792664
rs201873843
CA4821521
385 T>M Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA182738486
rs201873843
385 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1294465684
CA371850263
388 K>E No ClinGen
TOPMed
rs762126871
CA4821525
388 K>N No ClinGen
ExAC
gnomAD
CA4821527
rs773398889
390 T>P No ClinGen
ExAC
gnomAD
rs1298481405
CA371850291
391 A>T No ClinGen
gnomAD
CA371850298
rs1367400500
391 A>V No ClinGen
TOPMed
gnomAD
rs201132040
CA4821530
COSM1211648
398 G>D large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs1380809648
CA371850414
401 V>M No ClinGen
Ensembl
rs1219662408
CA371850438
403 V>I No ClinGen
gnomAD
CA371850462
rs1280458788
405 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs755826314
CA4821534
406 I>V No ClinGen
ExAC
gnomAD
CA4821537
rs758811663
408 L>F No ClinGen
ExAC
gnomAD
rs753432079
CA4821536
408 L>S No ClinGen
ExAC
gnomAD
CA371850546
rs1335226773
411 N>S No ClinGen
TOPMed
gnomAD
rs1478640524
CA371850595
414 S>F No ClinGen
gnomAD
rs1385648936
CA371850603
415 H>R No ClinGen
TOPMed
gnomAD
rs1165607979
CA371850625
417 Y>D No ClinGen
TOPMed
CA4821539
rs149723156
418 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4821540
rs755324744
418 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4821538
rs149723156
418 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781697576
COSM455002
CA4821541
419 R>C Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
COSM1102909
CA371850646
rs1321499528
419 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA4821542
rs748367691
421 K>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 421 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4821543
rs770119619
422 Q>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 422 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773134157
CA4821544
423 L>F No ClinGen
ExAC
gnomAD
rs1330511797
CA371850706
424 E>K No ClinGen
gnomAD
CA371850731
rs1233855483
425 S>T No ClinGen
gnomAD
CA4821545
rs749432677
426 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 427 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4821546
rs770948960
428 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4821547
rs377211918
428 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs994439138
CA371850807
431 D>H No ClinGen
TOPMed
rs994439138
CA182738514
431 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs767287793
CA4821549
435 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 436 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1262137749
CA371850887
437 K>N No ClinGen
gnomAD
rs1266034784
CA371850912
440 P>S No ClinGen
gnomAD
TCGA novel 441 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371850931
rs1452738924
441 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA4821552
rs763859114
442 V>D No ClinGen
ExAC
gnomAD
rs760293863
CA4821551
442 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA4821553
rs753452243
443 N>S No ClinGen
ExAC
gnomAD
CA371850991
rs1333005998
446 D>E No ClinGen
TOPMed
CA371850989
rs1414555600
446 D>V No ClinGen
gnomAD
CA182738521
rs773696797
448 Y>D No ClinGen
Ensembl
CA182738525
rs906910272
449 A>S No ClinGen
TOPMed
gnomAD
CA4821555
rs764653918
449 A>V No ClinGen
ExAC
gnomAD
CA4821556
rs752051290
450 H>R No ClinGen
ExAC
gnomAD
rs1388553228
CA371851024
450 H>Y No ClinGen
gnomAD
CA4821557
rs755600361
451 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA4821558
rs781686718
451 K>N No ClinGen
ExAC
gnomAD
TCGA novel 452 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 453 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1288743836
CA371851076
454 S>Y No ClinGen
TOPMed
gnomAD
CA4821559
rs748561913
455 L>F No ClinGen
ExAC
gnomAD
CA4821561
rs778018003
456 M>I No ClinGen
ExAC
gnomAD
CA4821560
rs756265826
456 M>T No ClinGen
ExAC
gnomAD
rs1356472651
CA371851117
457 A>V No ClinGen
TOPMed
gnomAD
CA371851123
rs1211054710
458 S>N No ClinGen
gnomAD
CA4821562
rs749478032
460 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA4821564
rs774471813
462 M>I No ClinGen
ExAC
gnomAD
CA182738536
rs892956498
462 M>T No ClinGen
TOPMed
CA182738541
rs745804262
463 S>I No ClinGen
ExAC
gnomAD
rs745804262
CA4821565
463 S>N No ClinGen
ExAC
gnomAD
TCGA novel 466 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772041898
CA4821566
467 P>R No ClinGen
ExAC
gnomAD
CA371851244
rs1253798929
468 S>N No ClinGen
TOPMed
rs775246273
CA4821567
473 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA4821568
rs760472450
475 S>F No ClinGen
ExAC
gnomAD
CA4821571
rs778272599
477 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4821572
rs541495971
477 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4821573
rs541495971
477 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD

No associated diseases with Q9ULS6

3 regional properties for Q9ULS6

Type Name Position InterPro Accession
domain BTB/POZ domain 17 - 126 IPR000210
domain Potassium channel tetramerisation-type BTB domain 19 - 118 IPR003131
domain Ion transport domain 187 - 420 IPR005821

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • May not reach the plasma membrane but remain in an intracellular compartment in the absence of KCNB1 or KCNB2
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
voltage-gated potassium channel complex A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential.

1 GO annotations of molecular function

Name Definition
voltage-gated potassium channel activity Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.

4 GO annotations of biological process

Name Definition
potassium ion transmembrane transport A process in which a potassium ion is transported from one side of a membrane to the other.
potassium ion transport The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
protein homooligomerization The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
regulation of delayed rectifier potassium channel activity Any process that modulates the frequency, rate or extent of delayed rectifier potassium channel activity.

22 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q4ZHA6 KCNB2 Potassium voltage-gated channel subfamily B member 2 Bos taurus (Bovine) PR
P17972 Shaw Potassium voltage-gated channel protein Shaw Drosophila melanogaster (Fruit fly) PR
Q14721 KCNB1 Potassium voltage-gated channel subfamily B member 1 Homo sapiens (Human) PR
Q8TDN2 KCNV2 Potassium voltage-gated channel subfamily V member 2 Homo sapiens (Human) PR
Q92953 KCNB2 Potassium voltage-gated channel subfamily B member 2 Homo sapiens (Human) PR
Q9H3M0 KCNF1 Potassium voltage-gated channel subfamily F member 1 Homo sapiens (Human) PR
Q96RP8 KCNA7 Potassium voltage-gated channel subfamily A member 7 Homo sapiens (Human) PR
P22459 KCNA4 Potassium voltage-gated channel subfamily A member 4 Homo sapiens (Human) PR
P22001 KCNA3 Potassium voltage-gated channel subfamily A member 3 Homo sapiens (Human) PR
Q16322 KCNA10 Potassium voltage-gated channel subfamily A member 10 Homo sapiens (Human) PR
Q09470 KCNA1 Potassium voltage-gated channel subfamily A member 1 Homo sapiens (Human) PR
P16389 KCNA2 Potassium voltage-gated channel subfamily A member 2 Homo sapiens (Human) PR
Q9UK17 KCND3 Potassium voltage-gated channel subfamily D member 3 Homo sapiens (Human) PR
Q03721 KCNC4 Potassium voltage-gated channel subfamily C member 4 Homo sapiens (Human) PR
Q80XM3 Kcng4 Potassium voltage-gated channel subfamily G member 4 Mus musculus (Mouse) PR
Q03717 Kcnb1 Potassium voltage-gated channel subfamily B member 1 Mus musculus (Mouse) PR
A6H8H5 Kcnb2 Potassium voltage-gated channel subfamily B member 2 Mus musculus (Mouse) PR
Q7TSH7 Kcnf1 Potassium voltage-gated channel subfamily F member 1 Mus musculus (Mouse) PR
O35174 Kcns2 Potassium voltage-gated channel subfamily S member 2 Mus musculus (Mouse) PR
O18868 KCNB1 Potassium voltage-gated channel subfamily B member 1 Sus scrofa (Pig) PR
P15387 Kcnb1 Potassium voltage-gated channel subfamily B member 1 Rattus norvegicus (Rat) PR
Q9ER26 Kcns2 Potassium voltage-gated channel subfamily S member 2 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MTGQSLWDVS EANVEDGEIR INVGGFKRRL RSHTLLRFPE TRLGRLLLCH SREAILELCD
70 80 90 100 110 120
DYDDVQREFY FDRNPELFPY VLHFYHTGKL HVMAELCVFS FSQEIEYWGI NEFFIDSCCS
130 140 150 160 170 180
YSYHGRKVEP EQEKWDEQSD QESTTSSFDE ILAFYNDASK FDGQPLGNFR RQLWLALDNP
190 200 210 220 230 240
GYSVLSRVFS ILSILVVMGS IITMCLNSLP DFQIPDSQGN PGEDPRFEIV EHFGIAWFTF
250 260 270 280 290 300
ELVARFAVAP DFLKFFKNAL NLIDLMSIVP FYITLVVNLV VESTPTLANL GRVAQVLRLM
310 320 330 340 350 360
RIFRILKLAR HSTGLRSLGA TLKYSYKEVG LLLLYLSVGI SIFSVVAYTI EKEENEGLAT
370 380 390 400 410 420
IPACWWWATV SMTTVGYGDV VPGTTAGKLT ASACILAGIL VVVLPITLIF NKFSHFYRRQ
430 440 450 460 470
KQLESAMRSC DFGDGMKEVP SVNLRDYYAH KVKSLMASLT NMSRSSPSEL SLNDSLR