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

8 structures for Q9NQG6

Entry ID Method Resolution Chain Position Source
4NXT X-ray 212 A A/B/C/D 119-463 PDB
4NXU X-ray 230 A A/B/C/D 119-463 PDB
4NXV X-ray 230 A A/B/C/D 119-463 PDB
4NXW X-ray 255 A A 119-463 PDB
4NXX X-ray 255 A A 119-463 PDB
5X9B X-ray 270 A A 133-463 PDB
5X9C X-ray 185 A A/B 133-463 PDB
AF-Q9NQG6-F1 Predicted AlphaFoldDB

375 variants for Q9NQG6

Variant ID(s) Position Change Description Diseaes Association Provenance
rs749536883
CA324425267
4 A>T No ClinGen
gnomAD
rs1245394195
CA411619612
4 A>V No ClinGen
gnomAD
CA411619616
rs1459515599
5 G>D No ClinGen
TOPMed
rs1601748924
CA411619623
6 E>G No ClinGen
Ensembl
CA10242519
rs150822596
7 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760871767
CA10242520
7 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA411619639
rs1426441368
9 G>S No ClinGen
gnomAD
rs377585123
CA10242521
11 K>T No ClinGen
ESP
ExAC
gnomAD
CA324425290
rs28480299
14 N>K No ClinGen
Ensembl
rs541450664
CA10242522
18 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs572762304
CA10242525
24 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10242527
rs780678940
26 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747457801
CA411619766
28 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1338340725
CA411619767
28 R>Q No ClinGen
TOPMed
gnomAD
rs747457801
CA10242528
28 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10242529
rs755670930
29 L>M No ClinGen
ExAC
gnomAD
CA10242530
rs777237660
30 V>G No ClinGen
ExAC
gnomAD
CA411619793
rs1601749042
33 V>G No ClinGen
Ensembl
CA324425345
rs976814958
36 A>E No ClinGen
TOPMed
gnomAD
CA411619812
rs976814958
36 A>V No ClinGen
TOPMed
gnomAD
rs770525005
CA10242532
38 M>R No ClinGen
ExAC
gnomAD
rs966198823
CA324425350
38 M>V No ClinGen
Ensembl
rs1472803619
CA411619841
41 I>T No ClinGen
gnomAD
CA324425380
rs373075072
42 A>G No ClinGen
ESP
TOPMed
gnomAD
rs1477159815
COSM1034301
CA411619844
42 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA411619848
rs373075072
42 A>V No ClinGen
ESP
TOPMed
gnomAD
rs1368577524
CA411619854
43 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1389579934
CA411619860
45 A>T No ClinGen
gnomAD
rs1455418253
CA411619872
47 K>Q No ClinGen
TOPMed
rs376035666
CA10242536
48 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1382278328
CA411619905
50 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs569843822
CA324425753
51 D>N No ClinGen
TOPMed
CA324425758
rs1018542096
52 R>Q No ClinGen
TOPMed
gnomAD
rs755440609
CA10242547
52 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA324425764
rs144389397
53 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144389397
CA10242548
53 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10242549
rs373246269
COSM3390236
53 A>V pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs778690453
CA10242551
56 A>V No ClinGen
ExAC
gnomAD
rs1601749530
CA411619947
TCGA novel
57 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs200564203
CA324425797
60 P>L No ClinGen
Ensembl
CA324425806
rs866288576
61 T>N No ClinGen
gnomAD
CA10242554
rs775114728
61 T>P No ClinGen
ExAC
gnomAD
CA10242556
rs553768655
62 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10242557
rs556813831
62 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411619977
rs556813831
62 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762051525
CA10242558
64 S>G No ClinGen
ExAC
gnomAD
rs1476648209
CA411619985
64 S>N No ClinGen
TOPMed
rs1569018637
CA411619994
65 H>R No ClinGen
Ensembl
rs200727999
CA10242560
66 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200727999
CA10242559
66 S>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA324425848
rs887595777
68 K>R No ClinGen
Ensembl
CA10242562
rs766800569
69 R>K No ClinGen
ExAC
gnomAD
rs558394876
CA324425854
69 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs576752056
CA10242564
70 S>C No ClinGen
1000Genomes
ExAC
gnomAD
rs767948904
CA10242565
71 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs753195461
CA10242566
72 E>K No ClinGen
ExAC
gnomAD
rs756813736
CA10242567
74 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA411620059
rs1231760160
75 N>S No ClinGen
TOPMed
gnomAD
CA411620069
rs1235911595
76 W>C No ClinGen
gnomAD
rs1317937096
CA411620064
76 W>R No ClinGen
gnomAD
CA324425945
rs991862528
76 W>S No ClinGen
TOPMed
gnomAD
CA411620078
rs1457096054
77 M>I No ClinGen
gnomAD
CA10242569
VAR_037040
rs2272830
78 G>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs771827471
CA324425951
78 G>V No ClinGen
Ensembl
CA10242570
rs757946795
80 P>A No ClinGen
ExAC
gnomAD
CA324425958
rs953150767
81 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA411620107
rs1368488182
83 L>P No ClinGen
TOPMed
CA411620116
rs1424263795
84 N>K No ClinGen
gnomAD
rs1466146490
CA411620119
85 R>K No ClinGen
TOPMed
gnomAD
CA10242572
rs377319480
86 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10242573
rs768717514
87 M>L No ClinGen
ExAC
gnomAD
CA10242574
rs781337794
88 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA411620142
rs1411739093
88 K>R No ClinGen
TOPMed
VAR_037041
RCV000965499
CA10242575
rs17001213
89 T>M No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs140773816
CA10242577
90 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 93 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10242579
rs771003764
93 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10242578
rs144526373
93 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411620189
rs1219935524
96 Q>R No ClinGen
gnomAD
CA411620193
rs1601749798
97 T>P No ClinGen
Ensembl
rs767850819
CA10242582
99 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs759964714
CA10242581
99 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA411620212
rs1231966882
100 T>K No ClinGen
TOPMed
CA411620218
rs1601749824
101 D>A No ClinGen
Ensembl
rs1178962596
CA411620223
102 S>A No ClinGen
TOPMed
rs887495064
CA324426058
102 S>F No ClinGen
TOPMed
rs887495064
CA411620226
102 S>Y No ClinGen
TOPMed
rs1221468509
CA411620230
103 S>A No ClinGen
gnomAD
rs1210035300
CA411620233
103 S>F No ClinGen
TOPMed
rs552010977
CA10242586
104 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10242585
rs552010977
104 T>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel
CA411620242
rs1478795446
105 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
rs1282133580
CA411620246
106 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA10242587
rs749851378
107 T>A No ClinGen
ExAC
gnomAD
rs961206480
CA324426073
107 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs12158456
CA10242606
112 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs12158456
CA10242607
112 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs116266824
COSM1034302
CA10242610
114 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371574555
CA10242609
114 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1312773405
CA411620320
116 K>E No ClinGen
gnomAD
CA411620338
rs1569019045
118 V>E No ClinGen
Ensembl
rs1210896248
CA411620335
118 V>L No ClinGen
gnomAD
rs752486701
CA10242611
119 A>S No ClinGen
ExAC
gnomAD
rs1460128341
CA411620343
119 A>V No ClinGen
gnomAD
TCGA novel 121 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 121 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA324426299
rs756326064
121 K>R No ClinGen
Ensembl
rs1601750223
CA411620368
123 Q>R No ClinGen
Ensembl
rs1601750230
CA411620377
124 V>G No ClinGen
Ensembl
TCGA novel 126 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10242614
rs777642593
130 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs777642593
CA411620415
130 R>G No ClinGen
ExAC
gnomAD
CA10242615
rs749239462
130 R>Q No ClinGen
ExAC
gnomAD
CA10242616
rs757326981
132 R>C No ClinGen
ExAC
gnomAD
rs368491896
CA10242617
132 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs368491896
CA324426371
132 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411620433
rs1257913380
133 M>I No ClinGen
gnomAD
CA10242618
rs746118182
136 Q>* No ClinGen
ExAC
gnomAD
rs1356893643
CA411620472
139 L>V No ClinGen
gnomAD
rs111676774
CA411620483
141 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA411620482
rs111676774
141 T>P No ClinGen
1000Genomes
ExAC
gnomAD
CA10242619
rs111676774
141 T>S No ClinGen
1000Genomes
ExAC
gnomAD
CA10242620
rs775843761
142 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 142 Y>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10242621
rs747269715
143 Y>* No ClinGen
ExAC
gnomAD
COSM478979
CA10242623
rs777054252
144 R>Q kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769059682
CA10242622
144 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs773951732
CA10242626
146 R>Q No ClinGen
ExAC
gnomAD
rs778124994
CA324426427
146 R>W No ClinGen
TOPMed
gnomAD
CA10242627
rs759278573
147 A>V No ClinGen
ExAC
gnomAD
rs752393975
CA411620533
150 P>A No ClinGen
ExAC
gnomAD
CA10242629
rs752393975
150 P>T No ClinGen
ExAC
gnomAD
rs1447630497
CA411620541
151 A>G No ClinGen
gnomAD
rs755923901
CA10242630
151 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA324426442
rs940734659
153 E>K No ClinGen
TOPMed
CA10242632
rs753754391
156 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10242631
rs376769285
156 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA324426467
rs868319070
157 A>V No ClinGen
Ensembl
rs757176310
CA10242633
158 K>R No ClinGen
ExAC
gnomAD
rs1252208875
CA411620589
159 Q>R No ClinGen
TOPMed
rs1212034105
CA411620605
162 V>M No ClinGen
TOPMed
CA411620625
rs1468773494
164 I>M No ClinGen
gnomAD
rs778983712
CA411620626
165 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs778983712
CA10242634
165 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs2232088
VAR_037042
CA10242636
169 R>W No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1327908517
CA411620676
172 L>P No ClinGen
gnomAD
rs369835711
CA10242638
173 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780321361
CA10242637
173 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1272930378
CA411620683
174 A>S No ClinGen
gnomAD
CA10242639
rs768941796
175 K>Q No ClinGen
ExAC
gnomAD
CA10242641
rs748626701
178 D>E No ClinGen
ExAC
gnomAD
CA10242642
rs371769454
179 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375966687
CA10242643
180 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 181 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411620734
rs1224246033
182 R>Q No ClinGen
gnomAD
rs771698108
CA10242645
182 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10242646
rs775059044
183 D>V No ClinGen
ExAC
gnomAD
CA10242648
rs763823300
184 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs760339504
CA10242647
184 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1352332058
CA753079814
185 Y>* No ClinGen
TOPMed
CA411620761
rs1474161533
186 L>S No ClinGen
gnomAD
rs753617239
CA10242649
186 L>V No ClinGen
ExAC
gnomAD
CA411620786
rs1601750538
189 S>R No ClinGen
Ensembl
CA10242651
rs765090634
189 S>T No ClinGen
ExAC
rs1022946628
CA324426596
190 L>P No ClinGen
TOPMed
rs757503154
CA324426620
191 Y>* No ClinGen
ExAC
gnomAD
CA324426611
rs148957894
191 Y>F No ClinGen
ESP
TOPMed
CA411620798
COSM1034305
rs1301122333
192 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs780151482
CA10242654
193 D>N No ClinGen
ExAC
gnomAD
rs1181318722
CA411620849
197 V>G No ClinGen
TOPMed
gnomAD
CA411620846
rs1443671591
197 V>M No ClinGen
gnomAD
rs1361983414
CA411620881
202 I>T No ClinGen
gnomAD
rs199993786
CA10242676
202 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1569019943
CA411620894
204 L>F No ClinGen
Ensembl
CA411620906
rs1202565474
206 V>L No ClinGen
TOPMed
rs778255699
CA411620914
207 P>H No ClinGen
ExAC
gnomAD
CA10242679
rs778255699
207 P>L No ClinGen
ExAC
gnomAD
CA10242680
rs749839535
211 E>A No ClinGen
ExAC
gnomAD
TCGA novel 212 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411620957
rs201294596
214 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA324427667
rs989590737
215 W>C No ClinGen
TOPMed
gnomAD
rs1309663074
CA411620974
216 S>L No ClinGen
gnomAD
rs776401340
CA10242685
217 C>Y No ClinGen
ExAC
gnomAD
CA10242687
rs200542861
222 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA10242686
rs138446352
222 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs916942251
CA324427694
224 I>T No ClinGen
Ensembl
CA10242689
rs762892107
225 M>T No ClinGen
ExAC
gnomAD
rs772943231
CA10242688
225 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1569020015
CA411621038
226 N>S No ClinGen
Ensembl
CA411621052
rs1248203288
228 P>L No ClinGen
gnomAD
CA10242691
rs774154590
230 F>C No ClinGen
ExAC
gnomAD
CA411621065
rs1354756896
230 F>L No ClinGen
TOPMed
rs1397554036
CA411621085
233 V>A No ClinGen
TOPMed
CA10242692
rs759722178
234 R>H No ClinGen
ExAC
gnomAD
rs767475762
CA10242693
235 R>C No ClinGen
ExAC
gnomAD
TCGA novel 236 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10242695
rs756360670
239 E>Q No ClinGen
ExAC
gnomAD
CA10242696
rs764571206
240 Y>* No ClinGen
ExAC
rs754193765
CA10242697
241 F>L No ClinGen
ExAC
rs757705982
CA10242698
241 F>L No ClinGen
ExAC
gnomAD
CA324427762
rs909642836
242 P>A No ClinGen
Ensembl
CA10242699
rs779538701
242 P>L No ClinGen
ExAC
gnomAD
CA411621142
rs1394721735
243 R>S No ClinGen
gnomAD
rs1302504175
CA411621165
246 S>N No ClinGen
gnomAD
rs780650405
CA10242702
250 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA411621197
rs1282144302
COSM478980
250 R>H kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1426865946
CA411621205
251 C>F No ClinGen
gnomAD
TCGA novel 259 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10242703
rs747820697
261 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs772998230
CA10242705
263 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10242706
rs2232091
VAR_037043
264 D>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10242709
rs759363646
270 V>M No ClinGen
ExAC
gnomAD
CA324427900
rs372526147
271 A>V No ClinGen
ESP
CA411621343
rs1601752456
273 S>A No ClinGen
Ensembl
rs760988344
CA10242712
274 I>L No ClinGen
ExAC
gnomAD
rs764342137
CA10242713
275 N>K No ClinGen
ExAC
rs1172727015
CA411621357
275 N>S No ClinGen
gnomAD
rs754105853
CA10242714
276 W>C No ClinGen
ExAC
gnomAD
rs1371560520
CA411621365
276 W>L No ClinGen
gnomAD
rs919418159
CA324427959
277 P>R No ClinGen
Ensembl
rs757696205
CA411621373
278 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA10242715
rs757696205
278 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA411621384
rs1367978271
279 I>M No ClinGen
gnomAD
CA324427978
rs867109910
281 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs186306472
CA10242717
284 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411621420
rs1340551214
285 Y>C No ClinGen
gnomAD
rs1187510859
CA411621426
286 V>E No ClinGen
TOPMed
CA10242718
rs758782871
286 V>M No ClinGen
ExAC
gnomAD
CA10242719
rs201274653
288 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752136952
CA10242720
288 R>L No ClinGen
ExAC
gnomAD
rs142835569
CA10242721
289 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1355118088
CA411621448
290 A>V No ClinGen
TOPMed
CA324428055
rs1007522759
291 P>R No ClinGen
Ensembl
CA411621457
rs1489805689
292 P>T No ClinGen
gnomAD
CA411621464
rs1221602403
293 P>S No ClinGen
gnomAD
CA10242724
rs770803955
301 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1294626601
CA411621525
302 Y>C No ClinGen
TOPMed
CA10242726
rs778536607
304 R>C No ClinGen
ExAC
TOPMed
gnomAD
RCV000969385
CA10242727
rs141041315
304 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs141041315
CA10242728
304 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10242729
rs775712595
305 D>Y No ClinGen
ExAC
gnomAD
rs768845947
CA10242731
307 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA411621567
rs1163427540
309 F>I No ClinGen
gnomAD
rs777044392
CA10242732
310 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA411621597
rs1434442965
313 L>V No ClinGen
gnomAD
CA324428143
rs1051696830
314 P>T No ClinGen
TOPMed
gnomAD
CA10242734
rs765666371
316 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs747452310
CA324428153
318 L>F No ClinGen
gnomAD
rs143931307
CA10242736
319 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150255211
CA10242737
324 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411621671
rs1240480107
325 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs752046797
CA10242738
326 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1245202348
CA411621682
327 P>L No ClinGen
gnomAD
rs755667019
CA10242739
327 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs755667019
CA10242740
327 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1601752788
CA411621686
328 H>P No ClinGen
Ensembl
CA10242742
rs199511060
329 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs753555710
CA10242741
329 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA411621701
rs1403006713
331 A>D No ClinGen
gnomAD
CA411621700
rs559558267
331 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA10242743
rs559558267
331 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs745585959
CA10242744
332 Q>P No ClinGen
ExAC
gnomAD
CA324428226
rs1031951008
333 Y>D No ClinGen
Ensembl
CA324428221
rs1031951008
333 Y>H No ClinGen
Ensembl
TCGA novel 335 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411621733
rs1466110142
336 L>M No ClinGen
gnomAD
COSM40095
CA10242745
rs368627838
338 R>Q central_nervous_system [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel 339 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA324428283
rs2232092
341 L>P No ClinGen
TOPMed
rs768898974
CA10242748
342 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1003128148
COSM1241761
CA324428292
342 R>H oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs201517293
CA10242750
343 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs544735642
CA411621777
344 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10242752
rs544735642
344 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10242753
rs146649231
344 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1460197616
CA411621787
345 E>D No ClinGen
gnomAD
rs752098023
CA10242755
346 T>M Variant assessed as Somatic; 4.766e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10242758
rs140177103
348 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142436343
CA10242759
348 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA411621809
rs372721188
350 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411621812
rs1249093190
350 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs372721188
CA10242761
350 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1178050900
CA411621815
351 A>S No ClinGen
gnomAD
rs1178050900
CA411621813
351 A>T No ClinGen
gnomAD
CA411621835
rs1203007810
354 Q>P No ClinGen
TOPMed
rs758320288
CA10242762
356 D>N No ClinGen
ExAC
gnomAD
CA10242763
rs779965865
357 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA411621862
rs1356018495
358 G>A No ClinGen
gnomAD
CA411621869
rs1439757573
359 C>F No ClinGen
gnomAD
rs1413487850
CA411621872
360 R>* No ClinGen
TOPMed
gnomAD
rs746975740
CA10242765
360 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA10242764
COSM1751883
rs746975740
360 R>Q Variant assessed as Somatic; 0.0 impact. urinary_tract breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411621887
rs1569020505
362 L>P No ClinGen
Ensembl
rs1224194036
CA411621898
364 L>F No ClinGen
gnomAD
CA10242767
rs781336501
365 K>R No ClinGen
ExAC
gnomAD
CA10242768
rs781336501
365 K>T No ClinGen
ExAC
gnomAD
TCGA novel 366 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA324428464
rs866567196
366 I>V No ClinGen
Ensembl
CA411621921
rs1350610798
368 K>E No ClinGen
gnomAD
TCGA novel 371 C>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10242769
rs769902754
371 C>R No ClinGen
ExAC
gnomAD
rs1439863674
CA411621946
371 C>W No ClinGen
TOPMed
gnomAD
CA10242770
rs773353465
371 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10242771
rs749478962
375 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1399619776
CA411621979
377 L>V No ClinGen
TOPMed
CA324428486
rs929482179
378 G>S No ClinGen
TOPMed
gnomAD
rs987565346
CA411621995
379 H>Q No ClinGen
TOPMed
CA411621998
rs1179891125
380 L>F No ClinGen
TOPMed
TCGA novel 381 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760044793
CA10242774
381 T>I No ClinGen
ExAC
gnomAD
rs767849879
CA10242775
383 S>R No ClinGen
ExAC
gnomAD
CA411622031
rs1252216615
385 L>Q No ClinGen
TOPMed
CA10242776
rs199560314
386 T>I No ClinGen
ExAC
CA411622040
rs1411459910
387 N>D No ClinGen
gnomAD
rs557568950
CA10242777
387 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs750085633
CA10242779
391 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs201383905
CA10242780
393 A>P No ClinGen
1000Genomes
ExAC
gnomAD
CA10242781
rs766301038
393 A>V No ClinGen
ExAC
gnomAD
rs754815222
CA10242783
398 D>V No ClinGen
ExAC
gnomAD
rs751342205
CA10242782
COSM323486
398 D>Y lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs781048132
CA411622132
400 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs781048132
CA10242784
400 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs748094403
CA10242785
401 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10242786
rs748094403
401 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1225316692
CA411622137
402 D>N No ClinGen
gnomAD
CA10242788
rs749530383
403 M>T No ClinGen
ExAC
gnomAD
rs904510879
CA324428657
406 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs747740427
CA10242790
407 R>C No ClinGen
ExAC
gnomAD
rs746302171
CA10242791
407 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1166990326
CA411622186
409 L>P No ClinGen
gnomAD
rs772473753
CA10242792
411 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA10242793
rs775912326
412 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 414 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 415 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA324428715
rs768611628
415 L>H No ClinGen
Ensembl
rs1386282092
CA411622230
COSM1178637
416 I>M Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA10242795
rs376697509
416 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772800218
CA10242796
417 S>N No ClinGen
ExAC
gnomAD
rs1328404980
CA411622241
418 Y>S No ClinGen
gnomAD
CA10242799
rs751242262
423 V>G No ClinGen
ExAC
gnomAD
CA324428741
rs1053206945
423 V>I No ClinGen
TOPMed
rs1290196717
CA411622289
426 S>G No ClinGen
gnomAD
rs752605750
CA10242802
427 A>P No ClinGen
ExAC
TOPMed
rs752605750
CA411622296
427 A>T No ClinGen
ExAC
TOPMed
rs1412612696
CA411622305
428 L>R No ClinGen
TOPMed
rs756027517
COSM1034307
CA10242803
431 K>N endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA324428768
rs200056180
431 K>R No ClinGen
1000Genomes
rs140535562
CA324428775
435 F>L No ClinGen
ESP
rs1285800094
CA411622348
435 F>L No ClinGen
gnomAD
rs753843849
CA10242805
437 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs376908468
CA324428801
437 E>Q No ClinGen
Ensembl
rs772983602
CA10242807
438 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA10242808
rs746070942
438 L>P No ClinGen
ExAC
gnomAD
CA10242809
rs150433194
439 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10242811
rs747494414
440 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs780429146
CA10242810
440 P>T No ClinGen
ExAC
gnomAD
CA324428855
rs905789644
442 E>G No ClinGen
TOPMed
gnomAD
CA10242813
rs772853422
443 I>T No ClinGen
ExAC
gnomAD
CA411622411
rs1454910952
445 E>A No ClinGen
gnomAD
CA10242816
rs536286318
445 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
rs1240344366
CA411622434
448 Y>C No ClinGen
gnomAD
CA411622430
rs1340368597
448 Y>H No ClinGen
gnomAD
CA10242818
rs762638970
449 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA411622458
rs1204101306
452 C>Y No ClinGen
gnomAD
rs752475555
CA10242820
453 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA411622473
rs1462410096
454 L>F No ClinGen
TOPMed
gnomAD
CA10242821
rs760530375
455 S>C No ClinGen
ExAC
gnomAD
rs1183818696
CA411622492
457 P>R No ClinGen
gnomAD
CA411622488
rs1419485691
457 P>S No ClinGen
gnomAD
TCGA novel 458 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10242824
rs373709239
458 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1158604517
CA411622501
459 V>M No ClinGen
TOPMed
gnomAD
CA324428914
rs187514447
462 Q>E No ClinGen
1000Genomes
CA10242825
rs149438399
463 T>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1334992283
CA411622535
464 T>Y No ClinGen
gnomAD

No associated diseases with Q9NQG6

1 regional properties for Q9NQG6

Type Name Position InterPro Accession
domain Mab-21-like, HhH/H2TH-like domain 359 - 446 IPR046906

Functions

Description
EC Number
Subcellular Localization
  • Mitochondrion outer membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 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.
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
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.

3 GO annotations of molecular function

Name Definition
ADP binding Binding to ADP, adenosine 5'-diphosphate.
GDP binding Binding to GDP, guanosine 5'-diphosphate.
identical protein binding Binding to an identical protein or proteins.

4 GO annotations of biological process

Name Definition
cellular response to hypoxia Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
mitochondrial fission The division of a mitochondrion within a cell to form two or more separate mitochondrial compartments.
positive regulation of mitochondrial fission Any process that increases the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments.
positive regulation of protein targeting to membrane Any process that increases the frequency, rate or extent of the process of directing proteins towards a membrane, usually using signals contained within the protein.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8BGV8 Mief1 Mitochondrial dynamics protein MID51 Mus musculus (Mouse) PR
Q5NCS9 Mief2 Mitochondrial dynamics protein MID49 Mus musculus (Mouse) PR
Q5XIS8 Mief1 Mitochondrial dynamics protein MID51 Rattus norvegicus (Rat) PR
Q52MA5 mief1 Mitochondrial dynamics protein MID51 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MAGAGERKGK KDDNGIGTAI DFVLSNARLV LGVGGAAMLG IATLAVKRMY DRAISAPTSP
70 80 90 100 110 120
TRLSHSGKRS WEEPNWMGSP RLLNRDMKTG LSRSLQTLPT DSSTFDTDTF CPPRPKPVAR
130 140 150 160 170 180
KGQVDLKKSR LRMSLQEKLL TYYRNRAAIP AGEQARAKQA AVDICAELRS FLRAKLPDMP
190 200 210 220 230 240
LRDMYLSGSL YDDLQVVTAD HIQLIVPLVL EQNLWSCIPG EDTIMNVPGF FLVRRENPEY
250 260 270 280 290 300
FPRGSSYWDR CVVGGYLSPK TVADTFEKVV AGSINWPAIG SLLDYVIRPA PPPEALTLEV
310 320 330 340 350 360
QYERDKHLFI DFLPSVTLGD TVLVAKPHRL AQYDNLWRLS LRPAETARLR ALDQADSGCR
370 380 390 400 410 420
SLCLKILKAI CKSTPALGHL TASQLTNVIL HLAQEEADWS PDMLADRFLQ ALRGLISYLE
430 440 450 460
AGVLPSALNP KVNLFAELTP EEIDELGYTL YCSLSEPEVL LQT