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 Q8NCQ7

Entry ID Method Resolution Chain Position Source
AF-Q8NCQ7-F1 Predicted AlphaFoldDB

330 variants for Q8NCQ7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1418534400
CA398393461
2 W>* No ClinGen
gnomAD
rs1186571637
CA398393436
4 R>G No ClinGen
gnomAD
CA398393422
rs1244395843
4 R>K No ClinGen
gnomAD
CA8465874
rs772508942
7 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA8465873
rs772508942
7 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA8465871
rs200984168
9 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs564467384
CA8465872
9 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1217110627
CA398393327
11 R>G No ClinGen
gnomAD
CA8465870
rs768961503
12 W>R No ClinGen
ExAC
gnomAD
CA8465869
rs749445488
13 T>A No ClinGen
ExAC
gnomAD
CA289127312
rs749445488
13 T>P No ClinGen
ExAC
gnomAD
rs1240121519
CA398393283
14 K>E No ClinGen
TOPMed
CA398393278
rs1597744533
14 K>T No ClinGen
Ensembl
CA398393259
rs769738771
15 E>* No ClinGen
ExAC
gnomAD
CA8465867
rs769738771
15 E>K No ClinGen
ExAC
gnomAD
CA8465866
rs781340036
16 K>N No ClinGen
ExAC
gnomAD
rs1289607154
CA398393195
19 P>S No ClinGen
gnomAD
CA398393182
rs1447122831
20 K>Q No ClinGen
TOPMed
gnomAD
rs751124321
CA8465863
20 K>R No ClinGen
ExAC
gnomAD
CA398393157
rs777128011
21 A>D No ClinGen
ExAC
gnomAD
CA398393168
rs1343720854
21 A>T No ClinGen
gnomAD
CA8465862
rs777128011
21 A>V No ClinGen
ExAC
gnomAD
CA398393152
rs1418420049
22 R>C No ClinGen
gnomAD
CA289127275
rs934230814
22 R>H No ClinGen
TOPMed
CA8465860
rs752325880
24 W>* No ClinGen
ExAC
gnomAD
rs1421045391
CA398393129
24 W>* No ClinGen
gnomAD
rs1473903475
CA398393135
24 W>R No ClinGen
gnomAD
CA8465858
rs761042157
25 D>G No ClinGen
ExAC
gnomAD
rs764803635
CA8465859
25 D>Y No ClinGen
ExAC
gnomAD
CA398391159
rs1310723946
28 L>V No ClinGen
gnomAD
CA398391134
rs1422065710
29 S>L No ClinGen
gnomAD
rs144816976
CA289123258
30 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs144816976
CA8465836
30 D>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1208754525
CA398391086
32 N>K No ClinGen
TOPMed
rs907499934
CA289123252
32 N>S No ClinGen
Ensembl
TCGA novel 37 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1182150112
CA398390956
38 E>K No ClinGen
TOPMed
rs1364755895
CA398390928
39 R>K No ClinGen
TOPMed
gnomAD
CA289123248
rs951834752
40 G>E No ClinGen
Ensembl
CA8465835
rs563545838
40 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA398390850
rs1185759261
44 A>D No ClinGen
TOPMed
TCGA novel 45 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA289123242
rs1034087453
46 V>E No ClinGen
TOPMed
gnomAD
CA398390825
rs1420706855
46 V>M No ClinGen
gnomAD
rs1457788717
CA398390809
47 A>T No ClinGen
TOPMed
CA8465834
rs764592123
47 A>V No ClinGen
ExAC
gnomAD
CA398390628
rs1410604331
52 V>A No ClinGen
TOPMed
rs578067125
CA289123233
53 S>P No ClinGen
1000Genomes
rs1486348966
CA398390600
54 T>A No ClinGen
gnomAD
CA398390578
rs1191223926
55 F>L No ClinGen
TOPMed
gnomAD
rs1261090655
CA398390479
58 G>C No ClinGen
gnomAD
rs1238111250
CA398390474
58 G>D No ClinGen
gnomAD
CA8465825
rs746751574
59 G>D No ClinGen
ExAC
gnomAD
CA289122581
rs920625259
63 E>D No ClinGen
gnomAD
rs1184389908
CA398389257
63 E>G No ClinGen
TOPMed
rs773038403
CA8465824
65 D>G No ClinGen
ExAC
gnomAD
TCGA novel 65 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326635152
CA398389104
71 H>P No ClinGen
gnomAD
rs916044523
CA289122520
72 K>M No ClinGen
Ensembl
rs779638032
CA8465817
74 C>R No ClinGen
ExAC
gnomAD
rs1301073188
CA398389012
74 C>Y No ClinGen
TOPMed
gnomAD
rs753207202
CA8465813
79 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA289122478
rs369933235
79 I>V No ClinGen
ESP
TOPMed
CA398388843
rs1597731653
80 Y>S No ClinGen
Ensembl
rs960230823
CA289122466
81 P>R No ClinGen
gnomAD
rs758909804
CA8465811
81 P>S No ClinGen
ExAC
gnomAD
rs752877417
CA8465810
82 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs765433249
CA398388769
83 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA8465809
rs765433249
83 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA398388619
rs1597731588
87 V>A No ClinGen
Ensembl
CA8465805
rs776997644
88 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8465806
rs776997644
88 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs138077899
CA8465804
88 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs968759452
CA289122431
89 H>Y No ClinGen
Ensembl
rs543881952
CA8465803
90 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA8465801
rs771942143
92 H>Y No ClinGen
ExAC
gnomAD
rs146270076
CA8465799
93 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA289122429
rs996511712
94 H>R No ClinGen
Ensembl
CA8465798
rs768181981
94 H>Y No ClinGen
ExAC
gnomAD
rs1193358374
CA398388431
97 N>S No ClinGen
TOPMed
rs141862185
CA398388404
98 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398388389
rs759599083
98 H>Q No ClinGen
ExAC
TOPMed
CA398388393
rs1391968591
98 H>R No ClinGen
gnomAD
CA8465796
rs141862185
98 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA289122399
rs886969657
99 C>* No ClinGen
Ensembl
rs1008001735
CA289122404
99 C>F No ClinGen
Ensembl
TCGA novel 99 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA289122391
rs751847926
101 C>S No ClinGen
ExAC
TOPMed
gnomAD
COSM1744186
CA8465794
rs751847926
101 C>Y biliary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs778179510
CA8465793
102 N>T No ClinGen
ExAC
gnomAD
rs758645795
CA8465792
104 R>K No ClinGen
ExAC
gnomAD
CA8465750
rs780385812
104 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA398388132
rs1567713483
106 K>E No ClinGen
Ensembl
rs1227923485
CA398388081
110 E>K No ClinGen
gnomAD
rs750408777
CA8465746
112 S>N No ClinGen
ExAC
gnomAD
rs1295085753
CA398388018
113 S>G No ClinGen
gnomAD
CA398388004
rs1442890192
113 S>R No ClinGen
gnomAD
TCGA novel 115 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143668972
CA8465744
116 R>Q No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA8465745
rs148075248
COSM3718521
116 R>W upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1433598147
CA398387969
117 G>S No ClinGen
gnomAD
CA8465741
rs148946652
118 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752688160
CA8465740
118 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs759143893
CA8465738
120 P>R No ClinGen
ExAC
gnomAD
rs776002091
CA8465737
121 T>I No ClinGen
ExAC
gnomAD
rs369147017
CA398387918
122 C>F No ClinGen
ESP
ExAC
gnomAD
CA8465735
rs369147017
122 C>S No ClinGen
ESP
ExAC
gnomAD
CA398387896
rs769173190
124 H>P No ClinGen
ExAC
gnomAD
CA8465733
rs769173190
124 H>R No ClinGen
ExAC
gnomAD
CA398387878
rs1482182743
126 I>V No ClinGen
gnomAD
rs566098264
CA8465731
127 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770184428
CA8465730
128 S>F No ClinGen
ExAC
gnomAD
CA398387859
rs1330976697
129 P>S No ClinGen
TOPMed
CA398387861
rs1330976697
129 P>T No ClinGen
TOPMed
rs781215362
CA8465728
130 C>Y No ClinGen
ExAC
gnomAD
rs150328148
CA8465727
134 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs374751808
CA8465726
135 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398387818
rs374751808
135 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398387817
rs374751808
135 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8465724
rs758229750
136 E>Q No ClinGen
ExAC
gnomAD
rs765286083
CA8465722
137 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754841193
CA8465721
138 E>G No ClinGen
ExAC
gnomAD
CA398387801
rs1174475888
138 E>Q No ClinGen
gnomAD
CA8465720
rs753438569
140 V>M No ClinGen
ExAC
gnomAD
CA398387781
rs1471671009
141 E>K No ClinGen
gnomAD
rs766008745
CA8465719
142 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs760221349
CA8465718
142 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs773002993
CA8465717
143 F>C No ClinGen
ExAC
gnomAD
COSM1520867
rs1255191357
CA398387765
143 F>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
COSM3795387
CA398387762
rs1318633969
144 R>Q urinary_tract Variant assessed as Somatic; 4.632e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA8465716
rs372096791
144 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201929229
CA398387731
147 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8465688
rs201929229
147 W>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 148 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs947575752
CA289121780
151 Y>C No ClinGen
Ensembl
TCGA novel 152 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8465686
rs760811240
152 R>S No ClinGen
ExAC
gnomAD
CA8465685
rs773245847
153 P>H No ClinGen
ExAC
gnomAD
CA398387686
rs1248404805
153 P>S No ClinGen
gnomAD
CA398387670
rs1254835667
155 S>A No ClinGen
TOPMed
gnomAD
CA398387672
rs1254835667
155 S>P No ClinGen
TOPMed
gnomAD
CA398387658
rs1209870349
156 V>G No ClinGen
gnomAD
CA398387643
rs1355042976
158 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1263258224
CA398387633
159 I>T No ClinGen
gnomAD
CA8465683
rs201225284
160 H>P No ClinGen
ExAC
gnomAD
rs1342521060
CA398387625
160 H>Q No ClinGen
gnomAD
CA289121739
rs768335542
162 P>R No ClinGen
Ensembl
CA398387594
rs1424111191
165 H>R No ClinGen
gnomAD
rs748342765
CA8465682
165 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8465681
rs768338852
167 C>G No ClinGen
ExAC
gnomAD
rs768338852
CA8465680
167 C>R No ClinGen
ExAC
gnomAD
CA398387578
rs1480883539
167 C>S No ClinGen
TOPMed
CA8465679
rs749032245
169 A>T No ClinGen
ExAC
gnomAD
rs780198713
CA8465678
171 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs756113212
CA8465676
173 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1025855176
CA289121681
174 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1460235584
CA398387495
175 E>A No ClinGen
TOPMed
CA8465673
rs756740370
175 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA8465675
rs746509784
175 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs746509784
CA398387500
175 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs867007955
CA289121657
179 E>K No ClinGen
gnomAD
CA398387428
rs867007955
179 E>Q No ClinGen
gnomAD
rs1597729175
CA398387379
181 E>K No ClinGen
Ensembl
rs763747751
CA398387352
182 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs763747751
CA8465669
182 E>Q No ClinGen
ExAC
gnomAD
rs1273495653
CA398387322
183 S>G No ClinGen
gnomAD
CA398387310
rs1226598838
183 S>N No ClinGen
gnomAD
rs1213105008
CA398387272
185 P>S No ClinGen
gnomAD
CA8465667
rs759956496
186 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA398387250
rs754198104
186 P>H No ClinGen
ExAC
gnomAD
rs754198104
CA8465666
186 P>L No ClinGen
ExAC
gnomAD
CA398387235
rs1597729069
187 I>T No ClinGen
Ensembl
rs1370140606
CA398387222
188 P>L No ClinGen
TOPMed
gnomAD
rs1410536539
CA398387225
188 P>S No ClinGen
gnomAD
TCGA novel 188 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772073223
CA8465662
190 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs772073223
CA8465663
190 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs761884631
CA8465661
190 Q>H No ClinGen
ExAC
gnomAD
rs1249525508
CA398387198
190 Q>R No ClinGen
TOPMed
rs1597728996
CA398387177
191 V>G No ClinGen
Ensembl
rs573386518
CA8465660
191 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1173016727
CA398387152
193 P>S No ClinGen
gnomAD
CA8465657
rs543135538
194 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8465658
rs199919141
194 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745819940
CA8465655
196 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA398387078
rs1279743877
198 P>S No ClinGen
gnomAD
rs1567712254
CA398387041
200 L>V No ClinGen
Ensembl
CA398387021
rs1343424201
201 G>A No ClinGen
gnomAD
RCV000969679
CA8465654
rs114236344
201 G>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8465653
rs140256102
202 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746518553
CA8465652
203 S>T No ClinGen
ExAC
gnomAD
rs1320663915
CA398386956
205 A>V No ClinGen
gnomAD
CA398386944
rs1567712184
206 T>I No ClinGen
Ensembl
CA8465650
rs371202222
207 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs754251318
CA8465649
208 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA398386905
rs1334543297
209 P>S No ClinGen
gnomAD
CA398386850
rs1435418005
210 D>E No ClinGen
TOPMed
rs1457258987
CA398386815
212 T>I No ClinGen
gnomAD
rs1042222293
CA289121591
212 T>S No ClinGen
TOPMed
gnomAD
rs1179439709
CA398386806
213 A>T No ClinGen
gnomAD
CA8465645
rs572743535
213 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774485004
CA8465642
217 I>M No ClinGen
ExAC
gnomAD
CA8465641
COSM3421365
rs182342785
219 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1329152439
CA398386693
219 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs931661503
CA289121562
221 E>D No ClinGen
TOPMed
gnomAD
rs536086715
CA8465639
224 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs536086715
CA8465640
224 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1446936505
CA398386566
227 G>A No ClinGen
TOPMed
gnomAD
rs1283860119
CA398386572
227 G>S No ClinGen
gnomAD
CA398386537
rs1338503006
228 Q>R No ClinGen
gnomAD
CA8465637
rs745603315
230 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs776491153
CA8465636
231 K>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
CA398386420
rs746545857
234 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
rs573063962
CA8465633
237 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA398386341
rs1248517791
239 K>* No ClinGen
gnomAD
TCGA novel 240 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8465631
rs771826469
241 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA398386279
rs771826469
241 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs747832617
CA8465630
242 K>R No ClinGen
ExAC
gnomAD
rs1393389167
CA398386234
243 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs756481029
CA8465628
243 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 243 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs942963678
CA289121532
244 K>E No ClinGen
TOPMed
rs1077127
VAR_043476
CA289121525
245 D>A No ClinGen
UniProt
Ensembl
dbSNP
CA8465627
rs750782908
246 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1567711743
CA398386149
247 E>K No ClinGen
Ensembl
CA398386062
rs1597728466
251 E>G No ClinGen
Ensembl
rs763085012
CA8465620
254 K>R No ClinGen
ExAC
gnomAD
rs373807531
CA8465619
255 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778029551
CA8465618
256 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA398385905
rs1437915131
257 K>R No ClinGen
gnomAD
rs151135532
CA8465617
258 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1349942474
CA398385875
258 K>R No ClinGen
gnomAD
CA289121494
rs962554503
266 K>* No ClinGen
Ensembl
CA8465614
rs770826343
266 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1388791659
CA398385672
267 K>E No ClinGen
gnomAD
rs746993062
CA8465613
268 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs200114460
CA289121485
268 K>R No ClinGen
1000Genomes
CA8465611
rs773096567
269 S>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771577797
CA8465610
270 P>A No ClinGen
ExAC
gnomAD
CA8465609
rs747596303
270 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs770541517
CA8465607
272 K>D No ClinGen
ExAC
gnomAD
rs960609698
CA398385528
273 L>V No ClinGen
TOPMed
gnomAD
CA8465606
rs377031681
274 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398385498
rs1471219963
275 P>S No ClinGen
TOPMed
CA398385482
rs1220866614
276 S>Y No ClinGen
TOPMed
gnomAD
rs746253854
CA8465605
277 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs752138151
CA8465601
279 D>H No ClinGen
ExAC
gnomAD
rs758610329
CA8465599
280 V>M No ClinGen
ExAC
gnomAD
CA398385393
rs1369085020
282 R>* No ClinGen
TOPMed
gnomAD
rs200021121
CA8465597
282 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8465598
rs200021121
282 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8465594
COSM976984
rs143950518
286 A>T endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA289121410
rs533056293
291 R>G No ClinGen
1000Genomes
CA398385254
rs1165964731
291 R>S No ClinGen
gnomAD
rs766230452
CA8465593
292 M>I No ClinGen
ExAC
gnomAD
rs760322267
COSM265739
CA8465592
294 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398385209
rs1243295554
294 E>V No ClinGen
Ensembl
CA398385193
rs1567711258
295 S>C No ClinGen
Ensembl
rs1597728008
CA398385188
296 S>G No ClinGen
Ensembl
CA289121407
rs893272296
296 S>I No ClinGen
gnomAD
CA398385159
rs1249369733
297 P>L No ClinGen
gnomAD
rs751617318
CA289121406
298 E>Q No ClinGen
Ensembl
CA398385126
rs1212036139
299 S>G No ClinGen
gnomAD
CA8465591
rs773145372
299 S>I No ClinGen
ExAC
gnomAD
CA398385105
rs771980693
300 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8465589
rs201073389
300 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771980693
CA8465590
300 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA398385065
rs1288498781
302 E>K No ClinGen
gnomAD
rs1408836926
CA398385021
303 L>R No ClinGen
TOPMed
gnomAD
CA289121399
rs200833418
304 E>D No ClinGen
Ensembl
CA398385015
rs547305035
304 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8465588
rs547305035
304 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8465586
rs748991687
306 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1183149668
CA398384936
307 D>N No ClinGen
TOPMed
CA398384886
rs1174591459
309 Y>C No ClinGen
gnomAD
CA289121396
rs369735310
309 Y>N No ClinGen
ESP
rs779531231
CA8465585
310 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA8465584
rs529027052
311 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 312 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201634767
CA8465582
312 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398384847
rs1258559975
312 R>Q No ClinGen
TOPMed
gnomAD
COSM183619
rs201634767
CA8465581
312 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398384821
rs1567711029
313 G>E No ClinGen
Ensembl
rs1213052374
CA398384777
315 G>E No ClinGen
Ensembl
CA8465579
rs752873252
318 S>P No ClinGen
ExAC
gnomAD
rs779160916
CA8465578
318 S>Y No ClinGen
ExAC
gnomAD
CA398384703
rs1331230083
319 S>N No ClinGen
TOPMed
gnomAD
rs369557485
CA398384699
319 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8465577
rs754976909
319 S>R No ClinGen
ExAC
gnomAD
VAR_043477
CA8465575
rs3744637
320 E>K No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs372496544
CA289121362
321 D>Y No ClinGen
Ensembl
CA8465572
rs199835822
322 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750211068
CA8465573
322 I>V No ClinGen
ExAC
gnomAD
CA8465571
rs761712471
324 E>Q No ClinGen
ExAC
gnomAD
rs774223943
CA8465570
326 S>L No ClinGen
ExAC
gnomAD
CA8465568
rs200057429
327 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1455741312
CA398384540
328 P>S No ClinGen
gnomAD
CA8465565
rs747419432
329 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA398384523
rs1196927523
329 R>S No ClinGen
TOPMed
rs773690375
CA8465564
330 K>E No ClinGen
ExAC
gnomAD
rs1255216380
CA398384510
330 K>R No ClinGen
gnomAD
rs1248597964
CA398384489
331 R>S No ClinGen
gnomAD
CA8465562
rs748700857
331 R>T No ClinGen
ExAC
gnomAD
CA398384487
rs79223253
332 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8465561
rs79223253
332 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755100786
CA8465560
333 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA8465559
rs573823632
335 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs181428051
CA8465558
337 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs372361291
CA8465557
338 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1237317109
CA398384362
340 T>A No ClinGen
Ensembl
CA398384307
rs1597727472
343 K>N No ClinGen
Ensembl
rs767322592
CA8465554
346 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs767322592
CA398384279
346 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs757005530
CA398384231
349 K>R No ClinGen
ExAC
gnomAD
rs757005530
CA8465552
349 K>T No ClinGen
ExAC
gnomAD
rs751501990
CA8465551
350 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1567710652
CA398384205
351 N>K No ClinGen
Ensembl
CA8465550
rs763878512
352 K>Q No ClinGen
ExAC
gnomAD
CA8465548
rs762593335
354 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA398384159
rs762593335
354 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA8465546
rs764989691
356 P>L No ClinGen
ExAC
gnomAD
CA8465547
rs774832594
356 P>S No ClinGen
ExAC
gnomAD
COSM417632
CA398384132
rs774832594
356 P>T Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 357 P>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8465545
rs188624178
357 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1209962688
CA398384072
360 N>K No ClinGen
TOPMed
gnomAD
CA289121302
rs200506796
363 L>I No ClinGen
1000Genomes
CA398384000
rs1289185764
363 L>P No ClinGen
gnomAD
rs1343336254
CA398383951
365 S>W No ClinGen
gnomAD

No associated diseases with Q8NCQ7

1 regional properties for Q8NCQ7

Type Name Position InterPro Accession
domain Phospholipase A2 domain 55 - 133 IPR016090

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

2 GO annotations of molecular function

Name Definition
cyclin binding Binding to cyclins, proteins whose levels in a cell varies markedly during the cell cycle, rising steadily until mitosis, then falling abruptly to zero. As cyclins reach a threshold level, they are thought to drive cells into G2 phase and thus to mitosis.
phospholipase A2 activity Catalysis of the reaction: a 1,2-diacyl-sn-glycero-3-phospholipid + H2O = 1-acyl-sn-glycero-3-phospholipid + a fatty acid. This reaction removes the fatty acid attached to the sn2-position. Substrates include phosphatidylcholine, phosphatidylethanolamine, choline plasmalogen and phosphatides.

2 GO annotations of biological process

Name Definition
arachidonic acid secretion The controlled release of arachidonic acid from a cell or a tissue.
phospholipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MWVRTTLTIE RWTKEKTEPK ARSWDEALSD VNRLPSWERG HLLAGVASST DVSTFSEGGD
70 80 90 100 110 120
CKEPDKCCWR HKQCTGHIIY PFASDCVRHS LHLHSVNHCN CNSRLKDSSE DSSSSRGAGP
130 140 150 160 170 180
TCSHVIESPC FELTPEEEHV ERFRYGWCKS YRPVSVAVIH HPLYHECGAD DLNEEEEEEE
190 200 210 220 230 240
EESKPPIPTQ VGPATASPDL GTSMATGTPD STAPITIWRS ESPTGKGQGS KVIKKVKKKK
250 260 270 280 290 300
EKEKDKEEMD EKAKLKKKAK KGQLTKKKSP VKLEPSPPDV SRSLSARQLA RMSESSPESR
310 320 330 340 350 360
EELESEDSYN GRGQGELSSE DIVESSSPRK RENTVQAKKT GAKPSQARKV NKRKSPPGSN
PNLS