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 Q7Z2T5

Entry ID Method Resolution Chain Position Source
AF-Q7Z2T5-F1 Predicted AlphaFoldDB

491 variants for Q7Z2T5

Variant ID(s) Position Change Description Diseaes Association Provenance
CA1289503
rs201874064
2 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA343882890
rs1172560092
2 E>D No ClinGen
gnomAD
rs752695460
CA1289504
2 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA343882903
rs201874064
2 E>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1289502
rs368113240
3 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA343882867
rs1345917491
3 N>T No ClinGen
TOPMed
rs753656594
CA1289501
5 A>V No ClinGen
ExAC
gnomAD
CA1289499
rs761966868
8 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs774596700
CA1289498
9 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA1289497
rs764089275
11 P>S No ClinGen
ExAC
gnomAD
rs762959096
CA1289496
12 L>M No ClinGen
ExAC
gnomAD
rs776031606
CA1289495
12 L>R No ClinGen
ExAC
gnomAD
rs1342475542
CA343882451
13 E>Q No ClinGen
gnomAD
rs770277883
CA1289494
14 K>E No ClinGen
ExAC
gnomAD
CA343882368
rs1339407087
16 E>K No ClinGen
gnomAD
rs998154164
CA33389748
17 V>G No ClinGen
TOPMed
CA1289492
rs746269428
17 V>M No ClinGen
ExAC
gnomAD
rs902097627
CA33389745
18 E>K No ClinGen
TOPMed
gnomAD
rs776836061
CA1289490
19 V>A No ClinGen
ExAC
rs1009436376
CA33389739
20 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs189413479
CA1289489
21 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1289487
rs777417475
23 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs758040414
CA1289486
24 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs892414003
CA343882043
25 P>Q No ClinGen
gnomAD
CA33389726
rs892414003
25 P>R No ClinGen
gnomAD
CA1289485
rs747658286
27 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA343881932
rs747658286
27 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA343881955
rs1444067739
27 P>S No ClinGen
gnomAD
CA1289484
rs779034576
28 A>T No ClinGen
ExAC
gnomAD
CA343881890
rs904062733
29 R>G No ClinGen
TOPMed
gnomAD
rs754946753
CA1289483
29 R>P No ClinGen
ExAC
gnomAD
CA33389708
rs904062733
29 R>W No ClinGen
TOPMed
gnomAD
CA1289482
rs753782690
30 D>Y No ClinGen
ExAC
gnomAD
rs1246269976
CA343881783
32 A>S No ClinGen
TOPMed
gnomAD
rs1305333366
CA343881756
32 A>V No ClinGen
TOPMed
rs755875052
CA1289480
33 G>R No ClinGen
ExAC
gnomAD
CA1289479
rs751738994
34 V>G No ClinGen
ExAC
gnomAD
rs1287053090
CA343881701
34 V>I No ClinGen
gnomAD
CA343881608
rs1310224880
36 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs763084043
CA1289476
37 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs764360827
CA1289477
37 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs765780063
CA1289473
39 P>A No ClinGen
ExAC
gnomAD
rs1181417119
CA343881510
39 P>R No ClinGen
gnomAD
CA1289474
rs765780063
39 P>S No ClinGen
ExAC
gnomAD
CA343881491
rs1253786086
40 D>N No ClinGen
gnomAD
CA1289472
rs760056831
41 S>A No ClinGen
ExAC
gnomAD
CA343881409
rs777155352
43 L>M No ClinGen
ExAC
gnomAD
rs771204230
CA1289470
43 L>Q No ClinGen
ExAC
gnomAD
rs1226141806
CA343881359
44 D>H No ClinGen
TOPMed
TCGA novel 45 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343881250
rs1406856412
46 A>V No ClinGen
gnomAD
CA343881175
rs1290602644
48 T>I No ClinGen
gnomAD
rs772807778
CA1289467
49 P>S No ClinGen
ExAC
gnomAD
CA1289466
rs771820572
51 S>L No ClinGen
ExAC
gnomAD
rs932744924
CA33389667
52 A>T No ClinGen
Ensembl
rs1158509653
CA343881046
53 P>A No ClinGen
gnomAD
CA1289465
rs370732709
54 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778590946
CA1289464
55 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs199956086
CA1289463
56 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199956086
CA343880875
56 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1571364614
CA343880834
57 P>R No ClinGen
Ensembl
rs1471166193
CA343880866
57 P>S No ClinGen
TOPMed
rs749190997
CA1289461
58 A>T No ClinGen
ExAC
gnomAD
CA343880739
rs755915918
59 L>P No ClinGen
ExAC
gnomAD
CA1289459
rs755915918
59 L>R No ClinGen
ExAC
gnomAD
rs1571364577
CA343880701
60 A>S No ClinGen
Ensembl
CA1289458
rs750224358
60 A>V No ClinGen
ExAC
gnomAD
rs1330461015
CA343880645
61 Q>R No ClinGen
gnomAD
CA1289457
rs777894296
62 A>T No ClinGen
ExAC
gnomAD
rs758595229
CA1289456
62 A>V No ClinGen
ExAC
gnomAD
rs765330105
CA33389637
63 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs765330105
CA1289454
63 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA1289453
rs759545650
64 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1390894048
CA343880469
66 S>C No ClinGen
gnomAD
CA33389624
rs868246980
67 P>A No ClinGen
TOPMed
gnomAD
CA343880441
rs1413832935
67 P>R No ClinGen
TOPMed
gnomAD
CA343880368
rs1197354607
68 S>F No ClinGen
gnomAD
rs1174052925
CA343880366
69 L>V No ClinGen
TOPMed
gnomAD
rs147387711
CA1289449
71 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147387711
CA343880229
71 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773605511
CA1289448
72 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA1289446
rs761591548
73 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA343880110
rs1202086354
75 E>V No ClinGen
TOPMed
rs144761784
CA1289445
76 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA33389609
rs752960639
78 S>T No ClinGen
TOPMed
gnomAD
rs1223849471
CA343878352
80 R>K No ClinGen
TOPMed
rs766845969
CA1289429
82 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA343878245
rs1213022796
84 I>T No ClinGen
TOPMed
rs1163503159
CA343878249
84 I>V No ClinGen
gnomAD
rs1415307306
CA343878206
86 R>K No ClinGen
gnomAD
CA343878188
rs1330348244
87 Q>P No ClinGen
TOPMed
gnomAD
rs762206752
CA1289425
91 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs774200818
COSM1337085
CA1289424
92 E>D large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs962135877
CA33388613
92 E>K No ClinGen
Ensembl
CA343878113
rs1183255357
93 N>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA343878105
rs1481759542
93 N>S No ClinGen
gnomAD
rs1221078890
CA343878020
99 D>G No ClinGen
gnomAD
rs1322446858
CA343878006
100 G>E No ClinGen
gnomAD
rs1226561309
CA343877981
102 F>V No ClinGen
gnomAD
rs1288758182
CA343877946
103 D>Y No ClinGen
gnomAD
rs1392881773
CA343877915
105 A>G No ClinGen
gnomAD
CA343877912
rs1365081992
106 S>G No ClinGen
gnomAD
CA1289420
rs769139860
108 L>S No ClinGen
ExAC
gnomAD
TCGA novel
rs776486368
CA1289419
113 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
CA1289418
rs776486368
113 L>P No ClinGen
ExAC
gnomAD
rs1456113400
CA343877792
115 A>S No ClinGen
gnomAD
rs1456113400
CA343877788
115 A>T No ClinGen
gnomAD
TCGA novel 115 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763892233
CA1289399
116 G>D No ClinGen
ExAC
gnomAD
CA343876635
rs200467304
117 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs139038962
CA1289395
118 R>S No ClinGen
ESP
ExAC
gnomAD
rs375860895
CA1289393
120 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1289392
rs375860895
120 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA343876516
rs1255194015
120 A>V No ClinGen
gnomAD
rs78652979
CA1289391
121 C>F No ClinGen
ExAC
gnomAD
rs78652979
CA33388249
121 C>Y No ClinGen
ExAC
gnomAD
CA1289389
rs780078406
122 P>A No ClinGen
ExAC
gnomAD
CA1289387
rs756271493
122 P>Q No ClinGen
ExAC
gnomAD
rs780078406
CA1289388
122 P>S No ClinGen
ExAC
gnomAD
rs780078406
CA1289390
122 P>T No ClinGen
ExAC
gnomAD
CA1289384
rs745934308
123 L>F No ClinGen
ExAC
gnomAD
rs752067642
CA1289383
124 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TCGA novel 124 C>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1289382
rs752067642
124 C>W No ClinGen
ExAC
rs1400611770
CA343876228
125 P>L No ClinGen
gnomAD
CA1289380
rs373143474
125 P>S No ClinGen
ESP
ExAC
gnomAD
rs373143474
CA1289379
125 P>T No ClinGen
ESP
ExAC
gnomAD
CA1289378
rs764784262
126 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA1289377
rs764784262
126 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1289376
rs759114325
128 K>N No ClinGen
ExAC
gnomAD
CA1289375
rs753323072
129 F>I No ClinGen
ExAC
gnomAD
TCGA novel 131 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343875974
rs1166994865
131 A>P No ClinGen
gnomAD
CA1289374
rs370739293
132 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA33388222
rs79681782
133 N>I No ClinGen
TOPMed
gnomAD
CA33388224
rs79681782
133 N>S No ClinGen
TOPMed
gnomAD
CA1289373
rs760635408
134 S>G No ClinGen
ExAC
gnomAD
rs151195858
CA33388218
134 S>R No ClinGen
ESP
TOPMed
gnomAD
rs940198509
CA33388216
135 H>Y No ClinGen
gnomAD
CA1289371
rs771911995
137 L>F No ClinGen
ExAC
gnomAD
CA1289370
rs368376702
138 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1486552977
CA343875683
138 R>H No ClinGen
TOPMed
gnomAD
CA1289369
rs775844209
139 R>C No ClinGen
ExAC
gnomAD
CA343875669
rs1176091618
139 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1378895035
CA343875610
140 H>L No ClinGen
TOPMed
CA343875495
rs1455517592
143 N>K No ClinGen
TOPMed
CA1289368
rs769880740
146 W>C No ClinGen
ExAC
TCGA novel 156 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs915813047
CA343873461
159 I>L No ClinGen
TOPMed
gnomAD
CA33387462
rs915813047
159 I>V No ClinGen
TOPMed
gnomAD
CA343873389
rs1234366672
161 H>Q No ClinGen
TOPMed
gnomAD
CA343873400
rs1379989193
161 H>R No ClinGen
TOPMed
rs1196392876
CA343873344
163 P>L No ClinGen
gnomAD
CA33387460
rs974354008
163 P>T No ClinGen
TOPMed
TCGA novel 163 P>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1289345
rs771150176
166 P>S No ClinGen
ExAC
gnomAD
CA1289342
rs112100541
169 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200939961
CA1289343
169 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200939961
CA33387451
169 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1571355953
CA343873093
175 Q>* No ClinGen
Ensembl
rs1346849261
CA343872844
176 I>V No ClinGen
gnomAD
CA343872816
rs1380165029
178 S>C No ClinGen
gnomAD
rs1413745686
CA343872786
180 M>T No ClinGen
gnomAD
CA1289328
rs762780477
181 G>E No ClinGen
ExAC
gnomAD
rs766704960
CA1289327
182 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs766704960
CA1289326
182 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1447267617
CA343872770
182 A>V No ClinGen
gnomAD
CA1289324
rs773187432
184 Y>C No ClinGen
ExAC
gnomAD
rs894875184
CA33387093
187 I>M No ClinGen
TOPMed
gnomAD
CA1289321
rs774862497
187 I>T No ClinGen
ExAC
gnomAD
CA1289322
rs748606267
187 I>V No ClinGen
ExAC
gnomAD
rs769063354
CA343872733
188 I>F No ClinGen
ExAC
gnomAD
CA1289320
rs769063354
188 I>V No ClinGen
ExAC
gnomAD
CA1289319
rs749646628
195 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs755738256
CA1289317
203 V>I No ClinGen
ExAC
gnomAD
CA343872621
rs939000328
COSM900909
205 R>C Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA33387079
rs939000328
205 R>G No ClinGen
TOPMed
CA1289315
rs145284891
205 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA1289316
rs145284891
205 R>L No ClinGen
ESP
ExAC
gnomAD
CA33387073
rs867310609
206 H>R No ClinGen
Ensembl
rs1163710236
CA343872516
211 E>D No ClinGen
Ensembl
CA33387070
rs918272728
211 E>G No ClinGen
TOPMed
CA1289314
rs756722870
211 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 213 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751468468
CA1289313
213 K>R No ClinGen
ExAC
gnomAD
rs868435088
CA33387064
214 S>F No ClinGen
Ensembl
CA1289312
rs764115207
215 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA33387060
rs995312610
217 I>T No ClinGen
TOPMed
gnomAD
CA343872395
rs1473667436
218 A>T No ClinGen
TOPMed
CA343872178
rs1557990887
220 S>F No ClinGen
Ensembl
CA343872160
rs1461385483
221 T>A No ClinGen
gnomAD
rs114355007
CA1289293
222 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1214654475
CA343872122
223 K>E No ClinGen
TOPMed
CA343872082
rs1274983753
224 P>T No ClinGen
TOPMed
CA343871997
rs1484665278
227 E>G No ClinGen
TOPMed
TCGA novel 228 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777898690
CA1289292
228 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA1289290
rs752642001
233 D>G No ClinGen
ExAC
gnomAD
CA1289291
rs200802961
233 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM225451
rs778856321
CA1289289
234 T>M NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs577145249
CA33386775
235 D>N No ClinGen
Ensembl
rs1571354003
CA343871726
237 Q>R No ClinGen
Ensembl
CA343871671
rs1557990845
239 C>S No ClinGen
Ensembl
rs535319004
CA1289286
240 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1371567941
CA343871603
241 N>S No ClinGen
TOPMed
CA343871569
rs1571353977
242 Y>C No ClinGen
Ensembl
CA1289285
rs761836309
243 S>C No ClinGen
ExAC
gnomAD
rs1031912156
CA33386772
243 S>P No ClinGen
Ensembl
CA343871501
rs1316192751
244 I>M No ClinGen
gnomAD
CA1289284
rs751612882
245 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA1289283
rs376174771
246 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763485397
CA1289282
249 D>E No ClinGen
ExAC
gnomAD
CA1289281
rs373060680
250 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA343871339
rs1433367391
250 S>Y No ClinGen
TOPMed
CA343871325
COSM69920
rs1441063287
251 Y>H ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs891380186
CA33386763
252 F>C No ClinGen
TOPMed
rs770069989
CA1289280
252 F>V No ClinGen
ExAC
gnomAD
rs1328594302
CA343871275
253 N>Y No ClinGen
gnomAD
CA1289279
rs759934706
254 P>S No ClinGen
ExAC
gnomAD
TCGA novel 256 M>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745849394
CA33386756
260 R>P No ClinGen
gnomAD
rs745849394
CA343871103
260 R>Q No ClinGen
gnomAD
CA1289277
rs371545842
260 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA343870988
rs1373200877
261 Q>H No ClinGen
TOPMed
rs1396983278
CA343870986
262 L>I No ClinGen
gnomAD
CA1289262
rs759860174
263 I>T No ClinGen
ExAC
gnomAD
rs1431520337
CA343870916
266 T>A No ClinGen
TOPMed
CA1289261
rs777032620
268 A>P No ClinGen
ExAC
CA1289259
rs369669193
269 A>G No ClinGen
ESP
ExAC
gnomAD
CA1289260
rs369669193
269 A>V No ClinGen
ESP
ExAC
gnomAD
CA1289258
rs772941736
271 A>S No ClinGen
ExAC
CA1289257
rs771763449
272 E>G No ClinGen
ExAC
gnomAD
TCGA novel 272 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1571353523
CA343870771
273 E>G No ClinGen
Ensembl
CA1289256
rs747654577
274 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1571353504
CA343870700
275 K>N No ClinGen
Ensembl
TCGA novel 275 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA33386629
rs757326905
279 C>R No ClinGen
Ensembl
rs1271896658
CA343870423
283 F>L No ClinGen
gnomAD
CA1289254
rs768613869
285 A>T No ClinGen
ExAC
gnomAD
rs1326483262
CA343870404
285 A>V No ClinGen
gnomAD
CA1289236
rs562672448
288 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1289235
rs368130438
289 M>T No ClinGen
ESP
ExAC
gnomAD
rs778886537
CA33386045
289 M>V No ClinGen
Ensembl
CA1289234
rs72741812
296 H>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1433379910
CA343869273
296 H>Y No ClinGen
TOPMed
CA1289233
rs775237107
297 L>F No ClinGen
ExAC
gnomAD
CA343869243
rs1229242865
299 N>K No ClinGen
TOPMed
CA343869246
rs1307689602
299 N>S No ClinGen
TOPMed
CA343869236
rs1253730643
301 V>I No ClinGen
TOPMed
rs778011357
CA1289230
304 T>I No ClinGen
ExAC
gnomAD
CA1289229
rs143021633
305 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143629808
CA1289228
306 N>S No ClinGen
ESP
ExAC
gnomAD
rs143629808
CA33386031
306 N>T No ClinGen
ESP
ExAC
gnomAD
rs1437981524
CA343869188
308 L>S No ClinGen
gnomAD
rs1032164560
CA33386027
313 V>L No ClinGen
TOPMed
rs1262247904
CA343869144
314 T>I No ClinGen
TOPMed
rs1001130624
CA33386024
315 L>P No ClinGen
TOPMed
rs766988222
CA1289224
324 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs750791776
CA1289222
327 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs756585761
CA1289223
327 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1408914007
CA343869031
331 S>G No ClinGen
TOPMed
rs761587178
CA1289220
331 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA1289219
rs773805422
333 E>D No ClinGen
ExAC
gnomAD
CA343868979
rs1288653831
337 S>R No ClinGen
TOPMed
CA1289218
rs79124087
338 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA33386008
rs1045430274
340 I>T No ClinGen
TOPMed
CA343868905
rs1281007649
343 E>G No ClinGen
TOPMed
CA343868915
rs1326563972
343 E>K No ClinGen
gnomAD
CA343868890
rs1557989247
344 G>E No ClinGen
Ensembl
rs775568327
CA1289215
345 E>Q No ClinGen
ExAC
gnomAD
COSM159542
rs769691761
CA1289214
346 K>N breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA1289213
rs557667926
349 G>C No ClinGen
1000Genomes
ExAC
gnomAD
rs557667926
CA343868798
349 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs546085666
CA1289212
350 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770674466
CA1289211
350 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs770674466
CA343868767
350 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1214873274
CA343868679
353 V>L No ClinGen
gnomAD
rs1214873274
CA343868685
353 V>M No ClinGen
gnomAD
CA1289209
rs778988404
354 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs768845187
CA1289208
355 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1282626459
CA343868413
360 V>A No ClinGen
TOPMed
gnomAD
rs370110033
CA1289207
363 H>N No ClinGen
ESP
ExAC
gnomAD
CA343868302
rs1267064049
364 L>F No ClinGen
TOPMed
CA1289206
rs780755204
365 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA343868222
rs1571351077
366 S>C No ClinGen
Ensembl
CA343868092
rs1200197232
370 I>T No ClinGen
TOPMed
CA343867775
rs1431367362
371 H>R No ClinGen
gnomAD
CA33385888
rs914000813
371 H>Y No ClinGen
Ensembl
rs1328046505
CA343867502
378 S>P No ClinGen
gnomAD
rs1310791506
CA343867466
379 V>L No ClinGen
gnomAD
CA1289182
rs751843183
384 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs1175096492
CA343867209
385 A>S No ClinGen
gnomAD
rs758010145
CA1289180
387 R>S No ClinGen
ExAC
gnomAD
rs987822180
CA33385875
389 I>R No ClinGen
TOPMed
rs923049524
CA33385878
389 I>V No ClinGen
TOPMed
rs1167914468
CA343867072
391 N>Y No ClinGen
gnomAD
CA1289179
rs752306525
392 L>F No ClinGen
ExAC
gnomAD
rs758989886
CA1289177
394 I>M No ClinGen
ExAC
gnomAD
rs753837611
CA1289176
395 V>L No ClinGen
ExAC
gnomAD
CA343866840
rs1258533743
401 D>G No ClinGen
gnomAD
CA1289175
rs367918583
402 I>T No ClinGen
ESP
ExAC
gnomAD
rs771856900
CA1289172
413 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs986440156
CA1289169
414 R>Q No ClinGen
Ensembl
rs1470952546
CA343866508
415 R>C No ClinGen
TOPMed
rs775794292
CA1289168
415 R>H No ClinGen
ExAC
gnomAD
TCGA novel 417 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 418 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343866462
rs1439566929
418 G>R No ClinGen
TOPMed
gnomAD
CA1289164
rs375199980
423 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1289161
rs758725031
427 Y>N No ClinGen
ExAC
gnomAD
CA1289159
rs778531861
432 A>S No ClinGen
ExAC
gnomAD
CA343866230
rs1479740292
434 I>T No ClinGen
gnomAD
CA33385807
rs969185393
435 V>I No ClinGen
TOPMed
CA1289158
rs754521537
438 A>T No ClinGen
ExAC
gnomAD
CA33385804
rs1024081713
439 V>L No ClinGen
TOPMed
gnomAD
TCGA novel 441 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs190177287
CA1289140
443 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1289139
rs779430928
444 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs746929885
CA1289138
445 R>* No ClinGen
ExAC
gnomAD
rs1482815387
CA343893141
445 R>Q No ClinGen
TOPMed
rs774291927
CA1289137
446 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs148611463
CA33450893
450 I>M No ClinGen
ESP
rs767483087
CA1289136
450 I>V No ClinGen
ExAC
gnomAD
rs725847
CA33450887
451 E>Q No ClinGen
Ensembl
rs1557988447
CA343892826
456 V>M No ClinGen
Ensembl
CA343892770
rs1421682122
458 L>V No ClinGen
gnomAD
CA1289132
rs377360983
466 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144963644
CA1289131
467 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1289130
rs766384504
472 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA1289129
rs760796359
472 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA343892371
rs766384504
472 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA343892396
rs766384504
472 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA1289128
rs773631363
473 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA343892297
rs1485452995
474 S>L No ClinGen
gnomAD
rs1218342053
CA343892290
475 A>T No ClinGen
gnomAD
rs1345218520
CA343892267
476 D>G No ClinGen
gnomAD
rs1279036186
CA343892243
477 E>* No ClinGen
gnomAD
rs762258694
CA1289126
478 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA343892191
rs1557988401
479 A>T No ClinGen
Ensembl
rs774729165
CA1289125
480 K>R No ClinGen
ExAC
gnomAD
TCGA novel 480 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1381020736
CA343892129
481 K>E No ClinGen
gnomAD
CA343892114
rs1342985006
481 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 482 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1299122261
CA343891875
486 I>N No ClinGen
gnomAD
rs769252308
CA1289121
489 Q>R No ClinGen
ExAC
gnomAD
CA343891343
rs1281328059
499 D>E No ClinGen
TOPMed
rs1379430696
CA343891298
501 N>S No ClinGen
gnomAD
rs1311570147
CA343891264
502 M>T No ClinGen
TOPMed
rs1015039806
CA33450806
503 V>L No ClinGen
TOPMed
gnomAD
CA343891184
rs1168317261
504 E>D No ClinGen
gnomAD
CA343891173
rs1427779485
505 E>K No ClinGen
gnomAD
CA343889508
rs1201074788
508 Y>H No ClinGen
TOPMed
gnomAD
rs376356749
CA33444260
509 R>G No ClinGen
ESP
TOPMed
gnomAD
rs1278084077
CA343889416
512 P>L No ClinGen
gnomAD
CA343889352
rs1201099038
514 N>K No ClinGen
gnomAD
rs1360311756
CA343889263
518 S>G No ClinGen
TOPMed
rs566590049
CA1289081
522 K>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1571344407
CA343889086
525 I>V No ClinGen
Ensembl
CA343887850
rs1390561547
532 S>A No ClinGen
TOPMed
rs766099997
CA1289060
535 L>F No ClinGen
ExAC
gnomAD
TCGA novel 536 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343887742
rs1484096589
537 N>H No ClinGen
Ensembl
CA33441440
rs772419633
537 N>S No ClinGen
TOPMed
CA343887688
rs1347213890
539 G>* No ClinGen
gnomAD
rs1015591613
CA33441397
546 F>L No ClinGen
Ensembl
rs1438516870
CA343887465
548 S>F No ClinGen
gnomAD
TCGA novel 548 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1013631737
CA33441395
551 H>R No ClinGen
TOPMed
gnomAD
CA343887306
rs1317299108
554 D>H No ClinGen
gnomAD
CA33441393
rs199733622
556 I>L No ClinGen
1000Genomes
TOPMed
CA343887232
rs199733622
556 I>V No ClinGen
1000Genomes
TOPMed
rs771416721
CA1289058
557 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA33441370
rs896461743
558 T>I No ClinGen
Ensembl
rs1362017260
CA343887118
559 L>P No ClinGen
gnomAD
CA343887096
rs1433546583
560 I>T No ClinGen
TOPMed
CA343887059
rs1320233017
562 T>S No ClinGen
TOPMed
rs748129246
CA1289056
565 F>C No ClinGen
ExAC
gnomAD
rs1173682438
CA343886888
568 E>D No ClinGen
gnomAD
CA1289053
rs768558944
570 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1193345797
CA343886791
572 Q>H No ClinGen
gnomAD
CA1289051
rs372163711
576 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757495654
CA1289050
577 I>V No ClinGen
ExAC
gnomAD
rs1208982042
CA343886651
579 A>P No ClinGen
TOPMed
gnomAD
CA343886641
rs1208982042
579 A>T No ClinGen
TOPMed
gnomAD
CA343886610
rs1257255833
580 S>Y No ClinGen
TOPMed
CA1289048
rs374771924
582 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA343886496
rs1380684870
583 V>A No ClinGen
gnomAD
CA1289047
rs142906342
584 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1289046
rs200485806
585 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA33440429
rs374273780
588 E>A No ClinGen
ESP
TOPMed
gnomAD
rs1050147154
CA33440400
589 N>S No ClinGen
Ensembl
rs1163164472
CA343885594
591 V>I No ClinGen
TOPMed
gnomAD
CA343885578
rs941645198
592 F>I No ClinGen
TOPMed
gnomAD
CA343885572
rs941645198
592 F>L No ClinGen
TOPMed
gnomAD
CA33440396
rs941645198
592 F>V No ClinGen
TOPMed
gnomAD
CA33440379
rs995007513
593 I>T No ClinGen
gnomAD
CA1289027
rs148293273
593 I>V No ClinGen
ESP
ExAC
gnomAD
CA343885413
rs1179197380
595 T>S No ClinGen
gnomAD
CA343885401
rs1432423220
596 T>A No ClinGen
TOPMed
rs1459000239
CA343885384
596 T>R No ClinGen
TOPMed
gnomAD
CA33440366
rs541908863
597 D>G No ClinGen
1000Genomes
TOPMed
gnomAD
CA343885364
rs541908863
597 D>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs770328321
CA1289026
599 T>N No ClinGen
ExAC
CA343885310
rs1322080089
600 T>A No ClinGen
gnomAD
rs1221713704
CA343885274
602 D>V No ClinGen
gnomAD
CA1289025
rs748146555
603 N>D No ClinGen
ExAC
gnomAD
rs1571341796
CA343885222
604 Y>D No ClinGen
Ensembl
rs1309284266
CA343885179
606 A>V No ClinGen
gnomAD
CA343885164
rs1253757017
607 Q>R No ClinGen
TOPMed
CA343885155
rs1448195031
608 G>R No ClinGen
gnomAD
CA1289002
rs749864131
611 K>R No ClinGen
ExAC
gnomAD
CA1289000
rs756585849
612 S>G No ClinGen
ExAC
gnomAD
CA343883611
rs1257261643
612 S>N No ClinGen
TOPMed
CA1289001
rs756585849
612 S>R No ClinGen
ExAC
gnomAD
CA33437345
rs998983245
613 N>I No ClinGen
Ensembl
rs781569516
CA1288998
613 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA343883466
rs1263512818
617 T>I No ClinGen
gnomAD
CA1288997
rs756888660
618 N>T No ClinGen
ExAC
gnomAD
CA1288996
rs199729807
619 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA343883325
rs1571339977
622 K>R No ClinGen
Ensembl
rs752698833
CA1288993
626 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs752698833
CA343883227
626 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs867387034
CA33437210
628 S>I No ClinGen
Ensembl
rs765131830
CA1288992
629 T>S No ClinGen
ExAC
gnomAD
CA343883101
rs776315469
630 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA1288991
rs759378445
630 E>G No ClinGen
ExAC
gnomAD
rs1186933884
CA343883030
633 P>A No ClinGen
TOPMed
rs796581583
CA33437197
636 Y>* No ClinGen
Ensembl
TCGA novel 637 N>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343882877
rs1402009616
637 N>S No ClinGen
gnomAD
CA343882802
rs1400172826
640 R>G No ClinGen
gnomAD
CA1288987
rs774615406
643 I>V No ClinGen
ExAC
gnomAD
CA343882589
rs1360866088
646 M>I No ClinGen
gnomAD
rs1367586946
CA343882255
653 K>R No ClinGen
gnomAD
rs1247726125
CA343882113
656 C>F No ClinGen
TOPMed
gnomAD
rs1247726125
CA343882117
656 C>Y No ClinGen
TOPMed
gnomAD
rs370765259
CA1288972
657 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA343882067
rs370765259
657 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 659 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343881967
rs1279500339
661 A>V No ClinGen
TOPMed
CA33437007
rs866952288
662 G>D No ClinGen
Ensembl
rs1457671073
CA343881878
664 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA343881861
rs1259143514
664 R>P No ClinGen
gnomAD
rs1259143514
CA343881866
664 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA33436998
rs909764873
665 V>I No ClinGen
Ensembl
rs760511079
CA1288970
667 R>* No ClinGen
ExAC
gnomAD
CA1288969
rs774750993
673 M>V No ClinGen
ExAC
gnomAD
CA33436979
rs1046962945
675 V>I No ClinGen
gnomAD
COSM208895
rs764389177
CA1288968
676 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs929846222
CA33436975
677 T>A No ClinGen
Ensembl
TCGA novel 681 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343881135
rs763217069
686 S>C No ClinGen
ExAC
gnomAD
CA1288967
rs763217069
686 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1288965
rs769926700
687 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA1288966
rs775742776
687 I>V No ClinGen
ExAC
gnomAD
TCGA novel 689 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 691 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777183997
CA1288963
693 T>I No ClinGen
ExAC
gnomAD
CA1288962
rs764498865
696 Y>C No ClinGen
ExAC
rs1341101347
CA343880735
697 T>A No ClinGen
gnomAD
CA343880561
rs1450312120
701 S>A No ClinGen
TOPMed
gnomAD
CA343880564
rs1450312120
701 S>P No ClinGen
TOPMed
gnomAD
CA343880516
rs1267029879
703 S>G No ClinGen
gnomAD
rs1557982865
CA343880444
704 H>Y No ClinGen
Ensembl
CA343880295
rs1172622150
707 S>* No ClinGen
TOPMed
CA1288955
rs771737496
711 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs777455821
CA1288956
711 D>N No ClinGen
ExAC
gnomAD
rs1417343597
CA343880174
712 T>A No ClinGen
TOPMed
rs746828583
CA33436842
714 T>N No ClinGen
TOPMed
gnomAD
CA343880117
rs746828583
714 T>S No ClinGen
TOPMed
gnomAD
rs747762957
CA1288954
715 E>Q No ClinGen
ExAC
gnomAD
CA1288951
rs143307217
717 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1288952
rs778401376
717 V>I No ClinGen
ExAC
gnomAD
CA343880019
rs1329554835
719 M>V No ClinGen
TOPMed
rs753782512
CA1288950
723 D>N No ClinGen
ExAC
TOPMed
CA343879877
rs1388181268
724 K>N No ClinGen
gnomAD
CA1288949
rs780005499
724 K>R No ClinGen
ExAC
gnomAD
CA343879871
rs1358274450
725 A>T No ClinGen
gnomAD
rs755911496
CA1288948
726 E>* No ClinGen
ExAC
gnomAD
rs755911496
CA343879857
726 E>K No ClinGen
ExAC
gnomAD
CA1288947
rs750264594
727 A>S No ClinGen
ExAC
gnomAD
rs1381621721
CA343879830
727 A>V No ClinGen
gnomAD
rs368015762
CA1288946
728 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1288945
rs763270119
729 G>C No ClinGen
ExAC
gnomAD
CA343879804
rs752911882
729 G>D No ClinGen
ExAC
gnomAD
rs752911882
CA1288944
729 G>V No ClinGen
ExAC
gnomAD
rs1168565673
CA343879798
730 C>R No ClinGen
gnomAD
rs1463274194
CA343879741
733 W>C No ClinGen
TOPMed
gnomAD
CA343879738
rs1571339612
734 W>E No ClinGen
Ensembl

No associated diseases with Q7Z2T5

2 regional properties for Q7Z2T5

Type Name Position InterPro Accession
domain Importin-beta, N-terminal domain 22 - 102 IPR001494
domain Exportin-2, central domain 195 - 441 IPR013713

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
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

4 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.
RNA binding Binding to an RNA molecule or a portion thereof.
tRNA (guanine-N2-)-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + tRNA containing guanine = S-adenosyl-L-homocysteine + tRNA containing N2-methylguanine.
tRNA binding Binding to a transfer RNA.

2 GO annotations of biological process

Name Definition
behavior The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity.
tRNA N2-guanine methylation The process whereby a guanine in a tRNA is methylated at the N2 position of guanine.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9NXH9 TRMT1 tRNA (guanine(26)-N(2))-dimethyltransferase Homo sapiens (Human) PR
Q3TX08 Trmt1 tRNA (guanine(26)-N(2))-dimethyltransferase Mus musculus (Mouse) PR
Q9LFU5 At5g15810 Probable tRNA (guanine(26)-N(2))-dimethyltransferase 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SRU7 At3g02320 Probable tRNA (guanine(26)-N(2))-dimethyltransferase 2 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MENMAEEELL PLEKEEVEVA QVQVPTPARD SAGVPAPAPD SALDSAPTPA SAPAPAPALA
70 80 90 100 110 120
QAPALSPSLA SAPEEAKSKR HISIQRQLAD LENLAFVTDG NFDSASSLNS DNLDAGNRQA
130 140 150 160 170 180
CPLCPKEKFR ACNSHKLRRH LQNLHWKVSV EFEGYRMCIC HLPCRPVKPN IIGEQITSKM
190 200 210 220 230 240
GAHYHCIICS ATITRRTDML GHVRRHMNKG ETKSSYIAAS TAKPPKEILK EADTDVQVCP
250 260 270 280 290 300
NYSIPQKTDS YFNPKMKLNR QLIFCTLAAL AEERKPLECL DAFGATGIMG LQWAKHLGNA
310 320 330 340 350 360
VKVTINDLNE NSVTLIQENC HLNKLKVVVD SKEKEKSDDI LEEGEKNLGN IKVTKMDANV
370 380 390 400 410 420
LMHLRSFDFI HLDPFGTSVN YLDSAFRNIR NLGIVSVTST DISSLYAKAQ HVARRHYGCN
430 440 450 460 470 480
IVRTEYYKEL AARIVVAAVA RAAARCNKGI EVLFAVALEH FVLVVVRVLR GPTSADETAK
490 500 510 520 530 540
KIQYLIHCQW CEERIFQKDG NMVEENPYRQ LPCNCHGSMP GKTAIELGPL WSSSLFNTGF
550 560 570 580 590 600
LKRMLFESLH HGLDDIQTLI KTLIFESECT PQSQFSIHAS SNVNKQEENG VFIKTTDDTT
610 620 630 640 650 660
TDNYIAQGKR KSNEMITNLG KKQKTDVSTE HPPFYYNIHR HSIKGMNMPK LKKFLCYLSQ
670 680 690 700 710 720
AGFRVSRTHF DPMGVRTDAP LMQFKSILLK YSTPTYTGGQ SESHVQSASE DTVTERVEMS
730
VNDKAEASGC RRW