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 Q6P1Q9

Entry ID Method Resolution Chain Position Source
AF-Q6P1Q9-F1 Predicted AlphaFoldDB

328 variants for Q6P1Q9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs754003835
CA4471381
2 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs754003835
CA369165911
2 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs755214059
CA4471382
3 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA4471383
rs755214059
3 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs755214059
CA369165923
3 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1293788812
CA369165947
3 G>V No ClinGen
TOPMed
CA369165998
rs1310043389
5 Y>C No ClinGen
gnomAD
TCGA novel 6 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144880655
CA4471385
6 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4471386
rs199977243
7 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4471387
rs747552289
9 A>E No ClinGen
ExAC
gnomAD
rs747552289
CA4471388
9 A>V No ClinGen
ExAC
gnomAD
rs550317475
CA4471391
10 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1394754844
CA369166144
11 A>T No ClinGen
gnomAD
CA369166163
rs1412966256
11 A>V No ClinGen
gnomAD
rs996729949
CA166137651
12 I>S No ClinGen
TOPMed
gnomAD
CA166137640
rs751924382
12 I>V No ClinGen
Ensembl
CA369166274
rs888039767
15 D>A No ClinGen
TOPMed
rs888039767
CA166137672
15 D>G No ClinGen
TOPMed
rs760621027
CA4471396
15 D>N No ClinGen
ExAC
gnomAD
CA4471397
rs766150434
16 K>R No ClinGen
ExAC
gnomAD
CA369166368
rs1442153563
17 R>W No ClinGen
gnomAD
CA4471399
rs368817993
18 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4471401
rs765429745
19 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA369166468
rs1368465293
20 F>S No ClinGen
TOPMed
rs1315756716
CA369166483
21 G>E No ClinGen
gnomAD
rs752988826
CA4471402
21 G>R No ClinGen
ExAC
gnomAD
CA369166533
rs1421788567
23 R>Q No ClinGen
gnomAD
rs143388299
CA4471404
25 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4471405
rs764272437
25 L>P No ClinGen
ExAC
gnomAD
rs1208379883
CA369166610
26 S>N No ClinGen
TOPMed
CA4471406
rs752051606
26 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA369166597
rs1246366047
26 S>R No ClinGen
TOPMed
rs1244765041
CA369166635
27 D>H No ClinGen
gnomAD
CA4471408
rs781683949
28 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA4471409
rs746258006
29 A>S No ClinGen
ExAC
gnomAD
CA4471410
rs754635858
29 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs969939104
CA166137818
30 R>G No ClinGen
TOPMed
gnomAD
CA4471411
rs778379366
30 R>L No ClinGen
ExAC
gnomAD
CA369166763
rs969939104
30 R>S No ClinGen
TOPMed
gnomAD
CA369166880
rs1325655959
34 H>R No ClinGen
TOPMed
gnomAD
CA4471414
rs772768554
36 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA369166940
rs771514640
36 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA4471413
rs771514640
36 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4471415
rs772768554
36 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4471416
rs770895217
37 W>R No ClinGen
ExAC
gnomAD
rs1409074735
CA369167137
38 D>G No ClinGen
TOPMed
CA4471438
rs763259775
38 D>H No ClinGen
ExAC
gnomAD
rs764446464
CA369167151
39 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs764446464
CA4471439
39 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA369167182
rs1467841190
40 V>M No ClinGen
gnomAD
rs201840388
CA166138109
41 E>Q No ClinGen
1000Genomes
CA369167238
rs1584787303
42 W>G No ClinGen
Ensembl
rs747240198
CA4471441
42 W>V No ClinGen
ExAC
rs1409602134
CA369167312
43 S>L No ClinGen
TOPMed
rs1483559110
CA369167404
46 Q>E No ClinGen
TOPMed
CA4471443
rs774550663
47 A>T No ClinGen
ExAC
gnomAD
CA369167508
rs1168918849
48 A>V No ClinGen
gnomAD
CA4471444
rs761934718
50 A>G No ClinGen
ExAC
gnomAD
CA369167598
rs1244045658
52 R>G No ClinGen
TOPMed
gnomAD
rs1427441452
CA369167616
52 R>S No ClinGen
gnomAD
CA166138157
rs542693830
53 K>R No ClinGen
1000Genomes
rs1175079536
CA369167652
55 Q>* No ClinGen
gnomAD
rs767735930
CA4471445
55 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4471446
rs750826327
56 E>* No ClinGen
ExAC
gnomAD
CA369167688
rs750826327
56 E>K No ClinGen
ExAC
gnomAD
rs761304206
CA4471447
58 S>N No ClinGen
ExAC
gnomAD
rs1563025675
CA369167831
59 I>N No ClinGen
Ensembl
CA369167908
rs1339747271
61 R>P No ClinGen
TOPMed
gnomAD
rs1269384472
CA369167885
61 R>W No ClinGen
gnomAD
CA4471449
rs754270290
62 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1282784635
CA369168010
64 Q>P No ClinGen
gnomAD
rs758023816
CA4471450
65 E>K No ClinGen
ExAC
gnomAD
rs777360306
CA4471451
66 K>E No ClinGen
ExAC
gnomAD
rs1449236159
CA369168118
67 Q>* No ClinGen
gnomAD
VAR_059465
CA4471452
rs2288557
68 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4471453
rs2288557
68 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369169759
rs1307505150
69 D>V No ClinGen
gnomAD
CA4471480
rs772380517
70 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA369169867
rs1584788301
71 E>Q No ClinGen
Ensembl
CA4471481
rs773144378
72 I>N No ClinGen
ExAC
gnomAD
CA4471482
rs558538474
73 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4471483
rs770950888
74 A>G No ClinGen
ExAC
gnomAD
CA369170064
rs1264450413
77 Y>C No ClinGen
TOPMed
CA4471485
rs760052603
78 W>* No ClinGen
ExAC
gnomAD
rs1480755207
CA369170137
80 D>N No ClinGen
gnomAD
rs1480755207
CA369170139
80 D>Y No ClinGen
gnomAD
rs1203919311
CA369170168
81 F>C No ClinGen
gnomAD
CA4471486
rs577815271
82 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
CA4471488
rs761337639
84 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA4471489
rs761337639
84 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs775896759
CA4471487
84 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs750061884
CA4471490
85 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs750061884
CA369170278
85 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA4471492
rs765990831
86 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs545309739
CA4471493
88 G>E No ClinGen
1000Genomes
ExAC
gnomAD
CA4471494
rs755022379
90 F>I No ClinGen
ExAC
TOPMed
gnomAD
rs778821569
CA4471495
91 K>E No ClinGen
ExAC
gnomAD
CA4471496
rs748007739
92 D>G No ClinGen
ExAC
gnomAD
TCGA novel 92 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 92 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758149529
CA4471497
93 R>G No ClinGen
ExAC
rs1452036402
CA369170739
94 H>R No ClinGen
TOPMed
TCGA novel 94 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747204364
CA4471499
95 W>* No ClinGen
ExAC
gnomAD
CA4471498
rs778016179
95 W>R No ClinGen
ExAC
gnomAD
CA166139340
rs909946449
96 L>F No ClinGen
TOPMed
rs1159707216
CA369170826
97 F>L No ClinGen
TOPMed
CA4471502
rs776752874
99 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA4471501
rs776752874
99 E>K Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1227251220
CA369170984
100 F>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 101 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770322966
CA4471503
101 P>S No ClinGen
ExAC
gnomAD
rs370934585
CA4471506
104 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4471507
rs772854007
105 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs760256690
CA4471508
106 S>G No ClinGen
ExAC
rs372947759
CA166139444
107 Q>E No ClinGen
ESP
TOPMed
gnomAD
CA166139451
rs765973988
107 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1448606188
CA369171424
109 Q>P No ClinGen
gnomAD
rs1563026260
CA369171447
110 N>T No ClinGen
Ensembl
CA369171488
rs1218532117
111 H>N No ClinGen
TOPMed
rs754946655
CA4471511
112 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs147091233
CA4471513
115 W>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1465000373
CA369171637
116 F>L No ClinGen
gnomAD
CA369171650
rs1291101702
116 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4471514
rs758149729
117 L>S No ClinGen
ExAC
gnomAD
COSM345898
rs777446288
CA4471515
118 E>K lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA369171702
rs1563026281
119 N>Y No ClinGen
Ensembl
CA369171779
rs1295847185
121 S>N No ClinGen
gnomAD
CA4471516
rs2896399
COSM1131716
VAR_042547
124 C>R prostate [Cosmic] No ClinGen
cosmic curated
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs1053120
CA4471517
COSM3662914
124 C>S liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4471518
rs781215137
126 C>F No ClinGen
ExAC
gnomAD
rs1217904465
CA369172099
128 N>K No ClinGen
TOPMed
gnomAD
rs2023329
CA369172103
129 N>D No ClinGen
gnomAD
rs2023329
VAR_042548
CA166139564
129 N>H No ClinGen
UniProt
dbSNP
gnomAD
TCGA novel 130 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4471520
rs769881145
133 P>L No ClinGen
ExAC
gnomAD
CA369172279
rs1206659231
133 P>S No ClinGen
gnomAD
CA4471522
rs749762340
134 G>A No ClinGen
ExAC
gnomAD
CA369172302
rs749762340
134 G>D No ClinGen
ExAC
gnomAD
TCGA novel 134 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369172341
rs1424585878
135 L>F No ClinGen
gnomAD
rs138655370
CA4471523
136 I>L No ClinGen
1000Genomes
ExAC
gnomAD
CA4471524
rs774634239
136 I>T No ClinGen
ExAC
gnomAD
rs1317297850
CA369172548
141 H>Y No ClinGen
TOPMed
CA4471525
rs542722736
142 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs138363960
CA4471527
143 C>Y No ClinGen
ESP
ExAC
TOPMed
COSM1085244
rs199814237
CA4471528
145 S>L endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs370330757
CA4471533
149 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369172908
rs1365015595
150 H>D No ClinGen
gnomAD
CA4471534
rs757446547
150 H>R No ClinGen
ExAC
gnomAD
CA369172909
rs1365015595
150 H>Y No ClinGen
gnomAD
CA369172994
rs1242070922
152 T>A No ClinGen
TOPMed
rs781338814
CA4471535
152 T>I No ClinGen
ExAC
gnomAD
CA4471536
rs750671733
153 Q>* No ClinGen
ExAC
gnomAD
CA4471537
rs750671733
153 Q>E No ClinGen
ExAC
gnomAD
rs780011703
CA4471538
153 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA369173016
rs1223636203
153 Q>R No ClinGen
TOPMed
rs71376910
CA166139747
155 P>L No ClinGen
Ensembl
rs543399916
CA4471542
159 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs531322856
CA4471541
159 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs200760710
CA4471543
162 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA369173278
rs200760710
162 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA369173283
rs1184525986
163 Q>* No ClinGen
TOPMed
gnomAD
rs759278722
CA4471545
COSM1447893
166 S>G Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1212891370
CA369173388
167 D>G No ClinGen
TOPMed
rs1065267
CA4471546
VAR_042549
169 E>K No ClinGen
UniProt
1000Genomes
TOPMed
dbSNP
gnomAD
rs1269551545
CA369173522
174 E>* No ClinGen
TOPMed
CA4471548
rs374382100
174 E>V No ClinGen
ESP
ExAC
gnomAD
rs376032047
CA4471549
176 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376032047
CA4471550
176 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs937655357
CA166139773
176 P>S No ClinGen
TOPMed
gnomAD
rs1443838938
CA369173581
177 G>R No ClinGen
gnomAD
rs1349278312
CA369173640
COSM1312658
179 S>L Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1226525990
CA369173659
180 A>G No ClinGen
gnomAD
TCGA novel 182 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4471552
rs564898982
183 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs564898982
CA4471553
183 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767300402
CA4471554
183 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1054909731
CA166139788
186 E>A No ClinGen
TOPMed
rs1171845417
CA369173758
186 E>Q No ClinGen
TOPMed
CA4471568
rs748694427
187 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs374470199
CA4471569
189 C>Y No ClinGen
ESP
ExAC
gnomAD
rs1203188545
CA369173887
190 G>C No ClinGen
gnomAD
CA4471571
rs761751374
191 V>A No ClinGen
ExAC
gnomAD
rs368420732
CA4471570
191 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs570735134
CA4471574
193 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369173926
rs570735134
193 N>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1451758127
CA369173939
194 T>A No ClinGen
gnomAD
rs1346963830
CA369173944
194 T>I No ClinGen
TOPMed
TCGA novel 195 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1238049186
CA369173974
196 F>L No ClinGen
gnomAD
CA166140312
rs933745096
198 I>T No ClinGen
TOPMed
gnomAD
rs535064523
CA4471575
198 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4471576
rs766464173
201 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 202 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs547363955
CA4471579
203 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1390822237
CA369176283
204 D>G No ClinGen
TOPMed
gnomAD
rs1173833068
CA369176314
206 G>A No ClinGen
gnomAD
rs1319658735
CA369176318
207 L>V No ClinGen
gnomAD
CA369176557
rs1383720205
213 D>G No ClinGen
TOPMed
CA369176829
rs1331872957
221 L>V No ClinGen
gnomAD
CA4471600
rs143926368
222 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4471601
rs143926368
222 V>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4471599
rs752867018
222 V>L No ClinGen
ExAC
gnomAD
rs532613589
CA4471640
228 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA4471641
rs184377510
229 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369179033
rs1296412142
229 D>N No ClinGen
gnomAD
TCGA novel 231 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4471642
rs201069711
232 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4471643
rs201069711
232 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1003182800
CA166145844
232 R>W No ClinGen
TOPMed
gnomAD
rs140437785
COSM110182
CA166145859
233 C>G skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1275149315
CA369179190
234 F>L No ClinGen
gnomAD
rs1230094773
CA369179177
234 F>S No ClinGen
gnomAD
rs150648939
CA4471645
239 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1240633988
CA369179444
241 C>F No ClinGen
gnomAD
rs991406855
CA166145877
244 E>* No ClinGen
TOPMed
rs1247592921
CA369179537
245 K>E No ClinGen
TOPMed
rs756743733
CA4471647
246 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA4471650
rs755911877
247 Y>* No ClinGen
ExAC
gnomAD
rs745794267
CA4471649
247 Y>H No ClinGen
ExAC
gnomAD
CA4471654
rs139684664
252 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769038355
CA4471653
252 G>S No ClinGen
ExAC
gnomAD
CA4471655
rs748209056
253 S>G No ClinGen
ExAC
gnomAD
rs1343043459
CA369179872
256 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA369179934
rs1288961374
259 L>V No ClinGen
gnomAD
rs924164768
CA166145933
260 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs773711845
CA4471657
261 F>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 263 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 263 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761229854
CA4471658
264 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1291674579
CA369180055
265 A>T No ClinGen
TOPMed
gnomAD
CA4471659
VAR_042550
rs2562741
266 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4471661
rs762574753
268 P>L No ClinGen
ExAC
gnomAD
rs751206752
CA4471663
269 D>E No ClinGen
ExAC
gnomAD
rs763756064
CA4471662
269 D>G No ClinGen
ExAC
gnomAD
rs1268307356
CA369180154
269 D>N No ClinGen
gnomAD
rs756723202
CA4471664
270 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA4471688
rs753857299
271 M>T No ClinGen
ExAC
gnomAD
CA4471690
rs778630920
273 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs752960141
CA4471691
274 A>P No ClinGen
ExAC
gnomAD
rs752960141
CA4471692
274 A>S No ClinGen
ExAC
gnomAD
rs369463525
CA166147397
275 I>V No ClinGen
ESP
TOPMed
gnomAD
rs372796185
CA4471693
276 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369182109
rs1230818152
276 N>S No ClinGen
gnomAD
CA369182172
rs1338785540
279 S>N No ClinGen
gnomAD
rs1398708341
CA369182188
280 R>G No ClinGen
TOPMed
gnomAD
rs771033957
CA4471695
282 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA4471696
rs202185157
283 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA369182296
rs1563031122
284 P>L No ClinGen
Ensembl
CA4471699
rs551970224
285 G>E No ClinGen
1000Genomes
ExAC
gnomAD
CA4471698
rs746392126
285 G>R No ClinGen
ExAC
gnomAD
rs376427235
CA4471701
286 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 287 M>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4471703
rs773019533
288 V>A No ClinGen
ExAC
gnomAD
rs760221605
CA4471704
290 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs567098989
CA4471705
291 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375503082
CA166147458
291 R>Q No ClinGen
TOPMed
gnomAD
CA369182476
rs1584797276
293 Y>S No ClinGen
Ensembl
CA4471707
rs759459489
294 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs549497239
CA4471708
295 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376529256
CA166147483
295 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4471709
rs376529256
295 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369182522
rs376529256
295 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369182546
rs1346339708
296 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1223380353
CA369182560
297 D>N No ClinGen
gnomAD
CA4471711
rs758237793
300 Q>* No ClinGen
ExAC
gnomAD
rs73232665
CA4471715
302 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs73232665
CA4471714
302 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4471713
rs148691648
302 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 306 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369184167
rs1229469212
306 G>V No ClinGen
gnomAD
CA4471731
rs372175253
307 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1348116657
CA369184206
308 C>W No ClinGen
gnomAD
TCGA novel 309 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767549823
CA4471734
314 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs139332186
CA4471737
315 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs139332186
CA4471736
315 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 316 R>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369184344
rs1180835599
317 G>R No ClinGen
gnomAD
rs1451933725
CA369184437
322 V>I No ClinGen
gnomAD
CA4471741
rs746630236
323 Y>H No ClinGen
ExAC
CA369184499
rs1168686158
325 F>S No ClinGen
TOPMed
rs1366401568
CA369184523
326 T>S No ClinGen
gnomAD
rs1301369783
CA369184564
328 E>K No ClinGen
TOPMed
gnomAD
rs768625890
CA4471765
330 L>R No ClinGen
ExAC
gnomAD
CA4471767
rs144033501
332 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372160652
CA4471769
333 L>F No ClinGen
ESP
ExAC
TOPMed
rs1242244191
CA369184780
335 T>P No ClinGen
gnomAD
rs761016035
CA4471771
340 E>A No ClinGen
ExAC
gnomAD
rs766337756
CA4471772
342 V>A No ClinGen
ExAC
gnomAD
CA369184882
rs759709919
343 Q>* No ClinGen
ExAC
gnomAD
rs759709919
CA4471774
343 Q>E No ClinGen
ExAC
gnomAD
CA369184895
rs1053124
344 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758775623
CA4471777
348 R>C No ClinGen
ExAC
gnomAD
CA4471778
rs376554951
348 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1381225752
CA369184921
349 R>* No ClinGen
TOPMed
gnomAD
rs750035208
CA4471779
349 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4471780
rs755834988
350 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA369184925
rs1223991931
350 L>Q No ClinGen
gnomAD
rs748750939
CA4471782
351 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs768188038
CA4471783
353 N>D No ClinGen
ExAC
gnomAD
rs1584799076
CA369184943
353 N>T No ClinGen
Ensembl
rs748092719
CA4471785
354 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs748092719
CA369184948
354 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4471786
rs369496166
354 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369184971
rs1163244735
357 Q>H No ClinGen
TOPMed
rs1435452905
CA369184977
358 L>P No ClinGen
gnomAD
CA369184991
rs1429353047
360 M>I No ClinGen
TOPMed
CA4471787
rs773126594
360 M>T No ClinGen
ExAC
gnomAD
rs760785211
CA4471788
361 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs149666702
CA4471790
362 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4471789
rs771135202
362 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369185002
rs759620083
363 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs759620083
CA4471791
363 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA369185012
rs1222915539
364 W>C No ClinGen
TOPMed
CA4471792
rs765418575
364 W>R No ClinGen
ExAC
CA4471793
rs753239204
366 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA369185031
rs1452533494
367 C>R No ClinGen
gnomAD
CA4471794
rs373453923
367 C>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369185032
rs1286634711
367 C>Y No ClinGen
gnomAD
CA369185047
rs1584799110
369 Y>S No ClinGen
Ensembl
CA369185053
rs1221197189
370 C>R No ClinGen
TOPMed
CA4471796
rs752008206
372 P>R No ClinGen
ExAC
gnomAD
CA4471799
rs753496451
375 S>F No ClinGen
ExAC
gnomAD
CA4471800
rs754429158
376 S>T No ClinGen
ExAC
gnomAD
rs1317764509
CA369185106
378 S>T No ClinGen
gnomAD

No associated diseases with Q6P1Q9

No regional properties for Q6P1Q9

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q6P1Q9

Functions

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

1 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

2 GO annotations of molecular function

Name Definition
tRNA (cytosine) methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + tRNA = S-adenosyl-L-homocysteine + tRNA containing methylcytosine.
tRNA (cytosine-3-)-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + tRNA = S-adenosyl-L-homocysteine + tRNA containing 3-methylcytosine.

1 GO annotations of biological process

Name Definition
tRNA methylation The posttranscriptional addition of methyl groups to specific residues in a tRNA molecule.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q86BS6 metl Methyltransferase-like protein Drosophila melanogaster (Fruit fly) PR
Q9H825 METTL8 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial Homo sapiens (Human) PR
Q96IZ6 METTL2A tRNA N(3)-methylcytidine methyltransferase METTL2A Homo sapiens (Human) PR
Q8BMK1 Mettl2 tRNA N(3)-methylcytidine methyltransferase METTL2 Mus musculus (Mouse) PR
10 20 30 40 50 60
MAGSYPEGAP AILADKRQQF GSRFLSDPAR VFHHNAWDNV EWSEEQAAAA ERKVQENSIQ
70 80 90 100 110 120
RVCQEKQVDY EINAHKYWND FYKIHENGFF KDRHWLFTEF PELAPSQNQN HLKDWFLENK
130 140 150 160 170 180
SEVCECRNNE DGPGLIMEEQ HKCSSKSLEH KTQTPPVEEN VTQKISDLEI CADEFPGSSA
190 200 210 220 230 240
TYRILEVGCG VGNTVFPILQ TNNDPGLFVY CCDFSSTAIE LVQTNSEYDP SRCFAFVHDL
250 260 270 280 290 300
CDEEKSYPVP KGSLDIIILI FVLSAVVPDK MQKAINRLSR LLKPGGMVLL RDYGRYDMAQ
310 320 330 340 350 360
LRFKKGQCLS GNFYVRGDGT RVYFFTQEEL DTLFTTAGLE KVQNLVDRRL QVNRGKQLTM
370
YRVWIQCKYC KPLLSSTS