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

43 structures for Q92665

Entry ID Method Resolution Chain Position Source
3J9M EM 350 A AY 1-395 PDB
6NU2 EM 390 A AY 276-383 PDB
6NU3 EM 440 A AY 1-395 PDB
6RW4 EM 297 A Y 1-395 PDB
6RW5 EM 314 A Y 1-395 PDB
6VLZ EM 297 A AY 1-395 PDB
6VMI EM 296 A AY 1-395 PDB
6ZM5 EM 289 A AY 1-395 PDB
6ZM6 EM 259 A AY 1-395 PDB
6ZS9 EM 400 A AY 1-395 PDB
6ZSA EM 400 A AY 1-395 PDB
6ZSB EM 450 A AY 1-395 PDB
6ZSC EM 350 A AY 1-395 PDB
6ZSD EM 370 A AY 1-395 PDB
6ZSE EM 500 A AY 1-395 PDB
6ZSG EM 400 A AY 1-395 PDB
7A5F EM 440 A Y6 1-395 PDB
7A5G EM 433 A Y6 1-395 PDB
7A5I EM 370 A Y6 1-395 PDB
7A5K EM 370 A Y6 1-395 PDB
7L08 EM 349 A AY 1-395 PDB
7OG4 EM 380 A AY 1-395 PDB
7P2E EM 240 A Y 1-395 PDB
7PNX EM 276 A Y 1-395 PDB
7PNY EM 306 A Y 1-395 PDB
7PNZ EM 309 A Y 1-395 PDB
7PO0 EM 290 A Y 1-395 PDB
7PO1 EM 292 A Y 1-395 PDB
7PO2 EM 309 A Y 1-395 PDB
7PO3 EM 292 A Y 1-395 PDB
7QI4 EM 221 A AY 1-395 PDB
7QI5 EM 263 A AY 1-395 PDB
7QI6 EM 298 A AY 1-395 PDB
8ANY EM 285 A AY 1-395 PDB
8CSP EM 266 A Y 1-395 PDB
8CSQ EM 254 A Y 1-395 PDB
8CSR EM 254 A Y 1-395 PDB
8CSS EM 236 A Y 1-395 PDB
8CST EM 285 A Y 1-395 PDB
8CSU EM 303 A Y 1-395 PDB
8OIR EM 310 A AY 1-395 PDB
8OIS EM 300 A AY 1-395 PDB
AF-Q92665-F1 Predicted AlphaFoldDB

338 variants for Q92665

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1158530189
CA387915309
2 F>C No ClinGen
Ensembl
rs759755257
CA6959552
2 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA387915299
rs1292149376
3 P>S No ClinGen
TOPMed
rs1458886459
CA387915291
4 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs777069421
CA6959551
4 R>T No ClinGen
ExAC
TOPMed
rs771232105
CA6959550
5 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA6959549
rs747268164
7 T>A No ClinGen
ExAC
gnomAD
CA387915249
rs1449063869
7 T>K No ClinGen
gnomAD
CA6959543
rs745589744
10 P>L No ClinGen
ExAC
gnomAD
rs745589744
CA6959544
10 P>R No ClinGen
ExAC
gnomAD
CA6959545
rs185925279
10 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1566113976
CA387915208
11 L>V No ClinGen
Ensembl
rs780985983
CA6959542
12 R>C No ClinGen
ExAC
gnomAD
CA6959541
rs756862669
12 R>L No ClinGen
ExAC
gnomAD
CA6959540
rs751181261
13 P>L No ClinGen
ExAC
gnomAD
CA387915185
rs1249383608
13 P>S No ClinGen
gnomAD
CA248355340
rs201928058
14 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs1276251312
CA387915171
14 L>H No ClinGen
gnomAD
rs1276251312
CA387915169
14 L>P No ClinGen
gnomAD
CA6959538
rs757842607
16 R>C No ClinGen
ExAC
gnomAD
rs757842607
CA387915150
16 R>G No ClinGen
ExAC
gnomAD
CA387915147
rs1237002206
16 R>H No ClinGen
TOPMed
rs1370419199
CA387915134
17 H>P No ClinGen
TOPMed
gnomAD
CA6959537
rs752258768
18 P>R No ClinGen
ExAC
gnomAD
rs765606634
CA387915110
19 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA6959535
rs754218007
20 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA6959534
rs754218007
20 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA248355320
rs1017191960
24 P>L No ClinGen
TOPMed
TCGA novel 25 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761174341
CA6959532
25 E>G No ClinGen
ExAC
gnomAD
CA387915025
rs1439577746
26 T>A No ClinGen
gnomAD
CA6959531
rs773551308
28 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs772400596
CA6959530
30 A>G No ClinGen
ExAC
gnomAD
CA387914966
rs1593281557
31 I>V No ClinGen
Ensembl
CA387914957
rs1249614377
32 M>L No ClinGen
TOPMed
gnomAD
CA387914944
rs1181371399
33 L>P No ClinGen
gnomAD
rs774498966
CA387914922
37 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs774498966
CA6959528
37 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA387914924
rs1462409510
37 R>W No ClinGen
gnomAD
rs1343907371
CA387914916
38 H>R No ClinGen
gnomAD
rs1360825653
CA387914910
39 G>E No ClinGen
TOPMed
rs1256053876
CA387914913
39 G>R No ClinGen
gnomAD
CA6959525
rs149961906
40 T>I No ClinGen
ESP
ExAC
gnomAD
rs1397377542
CA387914907
40 T>P No ClinGen
TOPMed
gnomAD
CA6959523
rs770690567
43 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA387914887
rs1593281518
43 Y>D No ClinGen
Ensembl
rs1310271801
CA387914880
44 R>C No ClinGen
gnomAD
rs1310271801
CA387914882
44 R>G No ClinGen
gnomAD
CA6959521
rs777341731
44 R>L No ClinGen
ExAC
gnomAD
rs758084407
CA6959520
45 S>G No ClinGen
ExAC
gnomAD
rs752101185
CA6959519
45 S>I No ClinGen
ExAC
gnomAD
rs1031367593
CA248355257
46 S>L No ClinGen
TOPMed
CA6959517
rs754489555
47 A>S No ClinGen
ExAC
gnomAD
TCGA novel 48 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372300050
CA6959515
50 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6959512
rs371649042
51 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6959511
rs762115044
51 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs371649042
CA6959513
51 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs556043646
CA248351989
54 N>S No ClinGen
1000Genomes
gnomAD
rs764279977
CA6959489
55 N>D No ClinGen
ExAC
gnomAD
rs764279977
CA387914446
55 N>Y No ClinGen
ExAC
gnomAD
rs762953392
CA6959488
57 Q>R No ClinGen
ExAC
gnomAD
CA6959487
rs775561550
58 R>* No ClinGen
ExAC
gnomAD
rs539542256
CA248351981
58 R>I No ClinGen
1000Genomes
rs773065063
CA6959485
59 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA6959486
rs766257255
59 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs139126960
CA6959483
62 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1263630118
CA387914400
62 T>P No ClinGen
TOPMed
rs1201470082
CA387914388
64 S>G No ClinGen
TOPMed
rs1279309120
CA387914385
64 S>N No ClinGen
gnomAD
rs1321438581
CA387914382
64 S>R No ClinGen
TOPMed
gnomAD
rs1187879611
CA387914371
66 I>N No ClinGen
TOPMed
rs774052260
CA6959479
67 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs768423504
CA6959478
67 C>Y No ClinGen
ExAC
gnomAD
CA387914361
rs1373682249
68 S>G No ClinGen
gnomAD
rs1220960619
CA387914358
68 S>N No ClinGen
Ensembl
CA6959477
rs748745900
69 K>T No ClinGen
ExAC
gnomAD
rs892007225
CA248351872
71 D>G No ClinGen
gnomAD
rs779730647
CA6959476
72 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1244500429
CA387914324
73 Q>* No ClinGen
gnomAD
CA6959475
rs756646860
73 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs746344175
CA6959474
76 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA387914303
rs868622225
76 R>P No ClinGen
TOPMed
gnomAD
rs868622225
CA248351860
76 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA248351859
rs17856655
80 T>I No ClinGen
Ensembl
rs960600173
CA248351843
82 K>M No ClinGen
TOPMed
gnomAD
CA387914266
rs960600173
82 K>R No ClinGen
TOPMed
gnomAD
CA387914255
rs1407478038
83 E>D No ClinGen
TOPMed
gnomAD
CA387914252
rs1174520102
84 T>A No ClinGen
gnomAD
rs757626748
CA6959472
84 T>I No ClinGen
ExAC
gnomAD
CA387914245
rs1229425973
85 S>* No ClinGen
TOPMed
gnomAD
CA387914244
rs1229425973
85 S>L No ClinGen
TOPMed
gnomAD
rs200566842
CA248351816
86 E>G No ClinGen
1000Genomes
CA6959468
rs201183404
88 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs200426663
CA248351792
89 D>G No ClinGen
1000Genomes
CA6959467
rs150773124
90 S>G No ClinGen
ESP
ExAC
TOPMed
CA6959466
rs765272512
90 S>N No ClinGen
ExAC
gnomAD
rs150773124
CA248351780
90 S>R No ClinGen
ESP
ExAC
TOPMed
rs759664412
CA6959465
91 E>K No ClinGen
ExAC
gnomAD
CA387914194
rs1369735166
93 E>K No ClinGen
gnomAD
rs368046468
CA6959463
95 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774026133
CA6959461
96 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1247874714
CA387914132
101 G>D No ClinGen
gnomAD
rs201935274
CA248351661
104 K>R No ClinGen
1000Genomes
rs768370555
CA6959460
106 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1482243689
CA387914087
108 V>I No ClinGen
gnomAD
rs199933450
CA6959459
110 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387914064
rs1270405301
111 S>N No ClinGen
TOPMed
CA387914058
rs1206084137
112 T>A No ClinGen
gnomAD
CA387914021
rs1192930304
114 N>S No ClinGen
gnomAD
rs1479201207
CA387914008
115 V>L No ClinGen
TOPMed
CA6959458
rs775319985
116 R>* Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769404257
CA6959457
116 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs548881414
CA6959455
117 T>R No ClinGen
1000Genomes
ExAC
gnomAD
CA6959456
rs142114244
117 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 118 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1213088369
CA387913947
120 P>S No ClinGen
gnomAD
rs1566112637
CA387913924
122 K>E No ClinGen
Ensembl
rs747350850
CA6959453
123 R>G No ClinGen
ExAC
gnomAD
rs778143647
CA6959452
125 P>L No ClinGen
ExAC
gnomAD
CA387913868
rs1315848332
125 P>T No ClinGen
TOPMed
gnomAD
CA6959451
rs139886992
126 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs17851966
CA248351602
132 T>A No ClinGen
Ensembl
CA248351587
rs773340932
134 G>D No ClinGen
Ensembl
rs755050072
CA6959448
135 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs767427852
CA6959446
136 L>R No ClinGen
ExAC
gnomAD
rs753873034
CA6959447
136 L>V No ClinGen
ExAC
gnomAD
CA248351559
rs1047557890
137 R>* No ClinGen
TOPMed
CA6959445
rs199554814
137 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751326799
CA6959444
140 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA6959443
rs763947727
140 T>I No ClinGen
ExAC
gnomAD
TCGA novel 141 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371403521
CA6959442
141 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387913621
rs1306269815
142 Y>C No ClinGen
Ensembl
CA6959441
rs775266887
143 A>S No ClinGen
ExAC
gnomAD
CA387913593
rs1293548902
144 P>S No ClinGen
TOPMed
CA248351522
rs1050595636
145 K>R No ClinGen
TOPMed
CA6959420
rs751427650
148 I>T No ClinGen
ExAC
gnomAD
rs764184452
CA6959419
149 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1455836954
CA387912479
152 S>T No ClinGen
gnomAD
rs570464939
CA6959416
154 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376836833
CA248346980
160 S>T No ClinGen
Ensembl
rs1448882563
CA387912367
161 A>T No ClinGen
gnomAD
CA6959414
rs759142056
162 V>A No ClinGen
ExAC
gnomAD
CA6959413
rs770323321
165 S>C No ClinGen
ExAC
gnomAD
CA6959412
rs770323321
165 S>F No ClinGen
ExAC
gnomAD
CA6959411
rs553533266
167 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1264611418
CA387912218
171 Q>R No ClinGen
gnomAD
rs773701873
CA387912203
172 T>I No ClinGen
ExAC
gnomAD
TCGA novel
rs1593276748
CA387912210
172 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs773701873
CA6959410
172 T>R No ClinGen
ExAC
gnomAD
CA387912144
rs1361145095
177 L>P No ClinGen
gnomAD
rs563448048
CA6959409
182 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1365239821
CA387912071
183 Q>K No ClinGen
gnomAD
CA248346917
rs137895732
184 H>R No ClinGen
ESP
TOPMed
gnomAD
CA387912020
rs1304770587
185 E>K No ClinGen
TOPMed
rs1293306798
CA387911941
187 E>A No ClinGen
gnomAD
CA6959407
rs774724951
188 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1166898229
CA387911888
190 A>T No ClinGen
gnomAD
rs768886101
CA6959406
192 R>T No ClinGen
ExAC
gnomAD
rs1257610719
CA387911774
194 A>G No ClinGen
TOPMed
gnomAD
rs1257610719
CA387911771
COSM3955587
194 A>V lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs190789123
CA6959405
196 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6959404
rs780374344
196 R>Q No ClinGen
ExAC
gnomAD
CA6959403
rs187459666
197 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1266666327
CA387911725
197 P>T No ClinGen
gnomAD
rs746012267
CA6959402
198 K>Q No ClinGen
ExAC
gnomAD
rs774882489
CA6959390
201 F>L No ClinGen
ExAC
gnomAD
rs1335537372
CA387911293
203 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs768882571
CA248345908
205 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs1482618905
CA387911247
205 I>M No ClinGen
gnomAD
CA6959389
rs768882571
205 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6959388
rs749721896
207 D>H No ClinGen
ExAC
gnomAD
rs749721896
CA387911216
207 D>N No ClinGen
ExAC
gnomAD
CA387911202
rs1224625099
207 D>V No ClinGen
gnomAD
CA6959387
rs373481473
208 M>T No ClinGen
ESP
ExAC
gnomAD
CA248345881
rs536332780
210 V>A No ClinGen
Ensembl
CA248345887
rs1011600902
210 V>L No ClinGen
TOPMed
CA387911089
rs1286832143
212 R>G No ClinGen
gnomAD
rs1228233832
CA387911051
213 S>C No ClinGen
gnomAD
rs1309347819
CA387911019
215 T>A No ClinGen
TOPMed
gnomAD
rs779757365
CA6959385
215 T>I No ClinGen
ExAC
gnomAD
CA387910994
rs781452553
216 A>G No ClinGen
ExAC
gnomAD
rs781452553
CA6959384
216 A>V No ClinGen
ExAC
gnomAD
rs1319818083
CA387910956
218 V>I No ClinGen
TOPMed
CA248345859
rs757451497
219 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757451497
CA6959383
219 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs748075331
CA6959382
219 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA387910893
rs1386449506
221 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs754722524
CA6959380
223 E>G No ClinGen
ExAC
gnomAD
CA387910812
rs377071174
225 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6959378
rs377071174
225 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3936326
rs370481725
CA6959379
225 R>W oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1243190809
CA387910802
226 I>L No ClinGen
TOPMed
gnomAD
TCGA novel 228 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1463043146
CA387910702
229 D>E No ClinGen
gnomAD
rs755781376
CA6959377
229 D>G No ClinGen
ExAC
gnomAD
CA248345824
rs867547426
229 D>N No ClinGen
Ensembl
rs749899603
CA6959376
232 Y>C No ClinGen
ExAC
gnomAD
rs201720205
CA6959375
233 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387910605
rs1474695489
233 D>H No ClinGen
TOPMed
rs761364957
CA6959374
234 N>S No ClinGen
ExAC
gnomAD
CA6959373
rs774829178
236 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs764730195
CA6959372
237 G>V No ClinGen
ExAC
gnomAD
rs775938052
CA6959370
241 T>A No ClinGen
ExAC
gnomAD
CA387910380
rs1854421
241 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6959369
VAR_052049
rs1854421
241 T>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA387910378
rs1854421
241 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 243 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6959365
rs747149685
244 L>R No ClinGen
ExAC
gnomAD
rs377188729
CA6959363
245 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6959361
rs779933917
247 R>K No ClinGen
ExAC
CA387910213
rs1278856110
247 R>W No ClinGen
TOPMed
rs1417921468
CA387908624
248 K>N No ClinGen
gnomAD
CA6959353
rs751085839
248 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA387908637
rs751085839
248 K>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 249 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776228534
CA248344174
250 I>L No ClinGen
TOPMed
gnomAD
CA387908587
rs776228534
250 I>V No ClinGen
TOPMed
gnomAD
CA6959352
rs764451428
251 F>Y No ClinGen
ExAC
gnomAD
rs373475702
CA6959351
253 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 255 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6959349
rs555429143
255 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA6959348
rs760035202
257 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA387908420
rs1348057232
257 N>K No ClinGen
TOPMed
CA387908422
rs760035202
257 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1227302706
CA387908418
258 I>V No ClinGen
TOPMed
rs1427456813
CA387908350
261 M>L No ClinGen
TOPMed
gnomAD
CA387908339
rs1336153973
261 M>T No ClinGen
TOPMed
CA387908319
rs1247356383
262 M>T No ClinGen
TOPMed
rs1388979137
CA387908308
263 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 263 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776987282
CA6959347
265 T>N No ClinGen
ExAC
gnomAD
rs978404258
CA248344115
266 K>E No ClinGen
TOPMed
CA248344114
rs199601303
268 A>E No ClinGen
1000Genomes
CA248344108
rs185897036
270 E>K No ClinGen
1000Genomes
TOPMed
gnomAD
CA6959331
rs750985643
274 S>P No ClinGen
ExAC
gnomAD
CA6959329
rs757895673
275 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6959328
rs753233954
277 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA6959326
rs759910674
278 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA6959327
rs759910674
278 W>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 278 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1226276228
CA387906550
279 D>G No ClinGen
gnomAD
CA248341432
rs13508
279 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_061812
CA6959324
rs13508
279 D>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs13508
CA6959325
279 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6959323
rs760983454
280 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA387906498
rs1443967053
281 E>G No ClinGen
gnomAD
rs1459362671
CA387906475
282 F>V No ClinGen
gnomAD
CA387906433
rs1356902948
283 A>V No ClinGen
gnomAD
CA387906397
rs1377154367
285 Q>* No ClinGen
TOPMed
rs1448580389
CA387906351
287 A>T No ClinGen
TOPMed
CA387906313
rs1407552989
290 N>H No ClinGen
gnomAD
rs150802943
CA6959320
291 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139173700
CA6959319
293 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387906241
rs139173700
293 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769729955
CA6959318
294 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs745605839
CA6959317
294 L>P No ClinGen
ExAC
gnomAD
rs567622797
CA6959316
296 N>K No ClinGen
1000Genomes
ExAC
gnomAD
rs770531505
CA6959315
297 G>E No ClinGen
ExAC
gnomAD
CA248341377
rs201048583
300 E>D No ClinGen
1000Genomes
gnomAD
CA387906027
rs1458381086
301 L>Q No ClinGen
TOPMed
rs202154364
CA248341376
302 I>L No ClinGen
1000Genomes
rs375923229
CA6959314
306 K>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 307 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1182334009
CA387905793
310 L>P No ClinGen
TOPMed
rs1225094091
CA387905760
311 W>C No ClinGen
gnomAD
CA387905765
rs1284745460
311 W>L No ClinGen
gnomAD
rs1593447191
CA387905683
315 I>V No ClinGen
Ensembl
CA6959311
rs757919004
317 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs771635473
CA6959293
320 G>D No ClinGen
ExAC
gnomAD
CA6959292
rs747642692
322 D>N No ClinGen
ExAC
gnomAD
CA6959291
rs557779396
324 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA6959290
rs146322897
325 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1300836347
CA388004641
325 G>S No ClinGen
TOPMed
rs1433256189
CA388004612
327 E>D No ClinGen
TOPMed
gnomAD
rs1364125309
CA388004594
329 H>R No ClinGen
gnomAD
rs372222169
CA6959288
330 E>* No ClinGen
ESP
ExAC
gnomAD
rs372222169
CA388004585
330 E>K No ClinGen
ESP
ExAC
gnomAD
CA388004570
rs1488010093
331 H>R No ClinGen
TOPMed
CA388004558
rs1427848862
332 I>T No ClinGen
TOPMed
gnomAD
rs368447180
CA6959286
332 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6959284
rs77896392
337 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1158695136
CA388004489
338 L>R No ClinGen
gnomAD
rs760756520
CA6959282
342 P>A No ClinGen
ExAC
gnomAD
rs866083905
CA248992366
343 K>E No ClinGen
Ensembl
CA388004428
rs1490752119
344 Q>R No ClinGen
gnomAD
CA388004421
rs1271842004
345 G>R No ClinGen
gnomAD
CA388004414
rs1420461190
345 G>V No ClinGen
TOPMed
rs1226143038
CA388004400
347 I>F No ClinGen
gnomAD
rs867328411
CA248992365
347 I>N No ClinGen
Ensembl
rs763077902
CA6959281
348 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs766229410
CA6959279
348 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs766229410
CA6959280
348 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs763077902
CA248992364
348 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1216862252
CA388004378
349 H>P No ClinGen
gnomAD
CA6959276
rs34392264
351 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374234655
CA6959278
351 M>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6959277
rs374234655
351 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761521934
CA6959275
355 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs768272050
CA6959273
356 C>Y No ClinGen
ExAC
gnomAD
CA248992363
rs371339203
357 G>S No ClinGen
ESP
TOPMed
CA388004258
rs1461498908
360 K>Q No ClinGen
TOPMed
gnomAD
rs748878566
CA6959272
360 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 361 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780545918
CA6959271
362 P>A No ClinGen
ExAC
gnomAD
CA388004237
rs780545918
362 P>T No ClinGen
ExAC
gnomAD
CA388004226
rs1246875402
363 Y>H No ClinGen
TOPMed
rs1428313616
CA388004217
364 L>I No ClinGen
gnomAD
rs920342140
CA388004204
365 S>C No ClinGen
TOPMed
gnomAD
CA248992362
rs920342140
365 S>G No ClinGen
TOPMed
gnomAD
rs201924592
CA6959268
365 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA388004207
rs920342140
365 S>R No ClinGen
TOPMed
gnomAD
TCGA novel 366 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388004182
rs1194894896
366 V>F No ClinGen
TOPMed
gnomAD
CA388004191
rs1194894896
366 V>I No ClinGen
TOPMed
gnomAD
rs757681509
CA6959267
371 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA388004102
rs1593438737
372 H>R No ClinGen
Ensembl
rs751760079
CA6959265
375 W>C No ClinGen
ExAC
gnomAD
rs752134211
CA6959264
376 F>L No ClinGen
ExAC
gnomAD
rs3308
CA248992360
378 N>D No ClinGen
Ensembl
rs1305079288 379 Y>* No gnomAD
rs535639095
CA6959263
379 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA388004009
rs1237262542
379 Y>H No ClinGen
TOPMed
TCGA novel 380 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752785049
CA388004001
380 F>L No ClinGen
ExAC
gnomAD
CA6959262
rs752785049
380 F>V No ClinGen
ExAC
gnomAD
CA388003968
rs1399039952
382 E>G No ClinGen
Ensembl
TCGA novel 385 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1405348537
CA388003937
385 D>H No ClinGen
gnomAD
TCGA novel 388 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388003875
rs1416558959
390 S>N No ClinGen
TOPMed
CA6959257
rs142646038
391 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761761204
CA6959256
391 N>S No ClinGen
ExAC
gnomAD
CA388003854
rs1593438682
392 I>T No ClinGen
Ensembl
CA6959255
rs774145864
392 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA388003835
rs1239701007
394 F>L No ClinGen
TOPMed
gnomAD
CA6959253
rs762497106
395 N>S No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q92665

No regional properties for Q92665

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q92665

Functions

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

4 GO annotations of cellular component

Name Definition
mitochondrial inner membrane The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial small ribosomal subunit The smaller of the two subunits of a mitochondrial ribosome.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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.

3 GO annotations of molecular function

Name Definition
protein domain specific binding Binding to a specific domain of a protein.
RNA binding Binding to an RNA molecule or a portion thereof.
structural constituent of ribosome The action of a molecule that contributes to the structural integrity of the ribosome.

1 GO annotations of biological process

Name Definition
mitochondrial translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MFPRVSTFLP LRPLSRHPLS SGSPETSAAA IMLLTVRHGT VRYRSSALLA RTKNNIQRYF
70 80 90 100 110 120
GTNSVICSKK DKQSVRTEET SKETSESQDS EKENTKKDLL GIIKGMKVEL STVNVRTTKP
130 140 150 160 170 180
PKRRPLKSLE ATLGRLRRAT EYAPKKRIEP LSPELVAAAS AVADSLPFDK QTTKSELLSQ
190 200 210 220 230 240
LQQHEEESRA QRDAKRPKIS FSNIISDMKV ARSATARVRS RPELRIQFDE GYDNYPGQEK
250 260 270 280 290 300
TDDLKKRKNI FTGKRLNIFD MMAVTKEAPE TDTSPSLWDV EFAKQLATVN EQPLQNGFEE
310 320 330 340 350 360
LIQWTKEGKL WEFPINNEAG FDDDGSEFHE HIFLEKHLES FPKQGPIRHF MELVTCGLSK
370 380 390
NPYLSVKQKV EHIEWFRNYF NEKKDILKES NIQFN