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 Q86WD7

Entry ID Method Resolution Chain Position Source
AF-Q86WD7-F1 Predicted AlphaFoldDB

426 variants for Q86WD7

Variant ID(s) Position Change Description Diseaes Association Provenance
CA390871492
rs1264137829
2 A>S No ClinGen
gnomAD
CA7328317
rs751166625
7 G>* No ClinGen
ExAC
gnomAD
TCGA novel 9 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763654723
CA7328316
9 L>P No ClinGen
ExAC
gnomAD
TCGA novel 11 A>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1358676894
CA390871426
11 A>D No ClinGen
TOPMed
rs758144555
CA7328315
13 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA390871413
rs1336000153
14 L>I No ClinGen
gnomAD
rs1330400042
CA390871406
15 C>R No ClinGen
TOPMed
gnomAD
rs532050549
CA7328313
15 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs570822602
CA7328311
16 A>D No ClinGen
1000Genomes
ExAC
gnomAD
CA7328312
rs759442392
16 A>S No ClinGen
ExAC
gnomAD
rs570822602
CA390871398
16 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs937082940
CA265905430
17 P>L No ClinGen
TOPMed
rs1595669184
CA390871388
18 I>T No ClinGen
Ensembl
rs760573855
CA7328309
18 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs368995727
CA7328308
19 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1229320584
CA390871373
20 C>Y No ClinGen
gnomAD
CA265905390
rs888124641
22 S>T No ClinGen
TOPMed
CA7328304
rs45438398
23 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775715515
CA7328305
23 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA390871355
rs1310987010
24 A>T No ClinGen
gnomAD
CA7328302
rs4905204
VAR_047344
24 A>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201652235
CA7328301
25 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA7328300
rs747466486
26 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs911032142
CA265905346
27 P>S No ClinGen
TOPMed
rs1337187253
CA390871325
29 A>S No ClinGen
gnomAD
rs777431283
CA7328298
30 Y>* No ClinGen
ExAC
gnomAD
rs1402106800
CA390871315
30 Y>C No ClinGen
gnomAD
CA390871314
rs1402106800
30 Y>S No ClinGen
gnomAD
CA7328297
COSM288247
rs370139069
32 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3670172
rs572746802
CA7328295
32 R>H central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
rs370139069
CA7328296
32 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390871299
rs1410330929
33 P>R No ClinGen
gnomAD
CA7328291
rs766049389
36 T>S No ClinGen
ExAC
gnomAD
TCGA novel 38 S>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7328289
rs372542319
38 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390871272
rs1237412506
38 S>R No ClinGen
gnomAD
rs45438596
CA7328288
39 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390871265
rs1595669030
39 T>P No ClinGen
Ensembl
rs1595669012
CA390871258
40 P>H No ClinGen
Ensembl
rs865864584
CA265905258
40 P>S No ClinGen
TOPMed
CA265905251
rs865864584
COSM1371820
40 P>T large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs763090252
CA390871255
41 A>S No ClinGen
ExAC
gnomAD
rs763090252
CA7328287
41 A>T No ClinGen
ExAC
gnomAD
rs199717292
CA7328286
41 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA390871247
rs1350696105
42 S>L No ClinGen
TOPMed
rs1315244213
CA390871252
42 S>T No ClinGen
gnomAD
COSM1516174
rs1376792694
CA390871239
43 Q>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA7328284
rs746051150
44 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs899526373
CA265905234
45 Y>C No ClinGen
Ensembl
CA7328283
rs777073491
46 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390871221
rs1419116689
47 L>I No ClinGen
TOPMed
gnomAD
rs200602156
CA390871209
48 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747519683
CA7328280
49 T>I No ClinGen
ExAC
gnomAD
rs747519683
CA390871203
49 T>N No ClinGen
ExAC
gnomAD
CA7328277
rs544061591
50 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390871201
rs544061591
50 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7328276
rs371625465
52 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758602903
CA7328275
52 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7328274
rs201522333
54 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs190620890
CA7328273
54 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755841892
CA7328272
57 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7328271
rs199573923
57 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199573923
COSM315089
CA390871156
57 R>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1342315242
CA390871153
58 R>G No ClinGen
gnomAD
rs1399480601
CA390871131
61 L>W No ClinGen
gnomAD
CA390871118
rs1047330150
63 T>I No ClinGen
TOPMed
gnomAD
rs1047330150
CA265905071
63 T>N No ClinGen
TOPMed
gnomAD
CA7328269
rs761718690
63 T>S No ClinGen
ExAC
gnomAD
rs572837692
CA7328268
64 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs59773088
CA7328266
65 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7328265
rs771270945
65 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA390871108
rs1411948308
65 S>R No ClinGen
TOPMed
gnomAD
rs771270945
CA7328264
65 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1338128016
CA390871094
67 N>S No ClinGen
TOPMed
gnomAD
CA390871089
rs761176457
68 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA390871086
rs1193660500
68 I>S No ClinGen
gnomAD
rs761176457
CA7328263
68 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs575042815
CA7328261
69 F>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs748563339
CA390871082
69 F>S No ClinGen
ExAC
gnomAD
CA7328260
rs748563339
69 F>Y No ClinGen
ExAC
gnomAD
TCGA novel 70 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1566793741
CA390871067
71 S>C No ClinGen
Ensembl
rs1566793741
CA390871065
71 S>F No ClinGen
Ensembl
rs915932148
CA265905027
75 V>A No ClinGen
Ensembl
rs748977210
CA390871043
75 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs748977210
CA7328256
75 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 76 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755752926
CA390871034
77 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA7328255
rs755752926
77 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs755752926
CA7328254
77 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs757220526
CA7328251
80 A>T No ClinGen
ExAC
gnomAD
rs990378863
CA265904946
80 A>V No ClinGen
gnomAD
CA390870995
rs1389225097
83 S>C No ClinGen
TOPMed
CA390870994
rs751390983
84 L>I No ClinGen
ExAC
gnomAD
CA7328249
rs751390983
84 L>V No ClinGen
ExAC
gnomAD
rs917893516
CA265904910
85 G>E No ClinGen
TOPMed
gnomAD
rs917893516
CA390870986
85 G>V No ClinGen
TOPMed
gnomAD
rs1170382945
CA390870982
86 A>T No ClinGen
gnomAD
rs1295712019
CA390870979
86 A>V No ClinGen
TOPMed
rs753937955
CA7328245
87 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs759598527
CA7328246
87 H>Y No ClinGen
ExAC
gnomAD
rs760946865
CA7328243
88 S>L No ClinGen
ExAC
gnomAD
CA7328244
COSM3706452
rs142619133
88 S>P liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs760492022
CA7328241
89 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1034288024
CA265904902
90 T>I No ClinGen
TOPMed
gnomAD
rs201925577
CA7328240
91 K>N No ClinGen
ExAC
gnomAD
rs12879019
CA7328238
93 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs12879019
CA7328237
93 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs12879019
CA265904879
93 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7328236
rs774962208
93 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1488031288
CA390870936
94 I>S No ClinGen
TOPMed
rs374230953
CA265904847
97 G>D No ClinGen
ESP
TOPMed
gnomAD
rs769479968
CA7328235
97 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 99 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1242649739
CA390870889
102 L>V No ClinGen
gnomAD
rs1196518184
CA390870882
103 T>A No ClinGen
TOPMed
gnomAD
CA7328233
rs780991821
103 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1290022735
CA390870874
104 H>L No ClinGen
TOPMed
rs1455779027
CA390870878
104 H>N No ClinGen
TOPMed
CA390870872
rs1359337963
104 H>Q No ClinGen
TOPMed
CA390870869
rs1331135306
105 T>A No ClinGen
gnomAD
rs1453770363 106 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1273588906
CA390870857
107 E>Q No ClinGen
TOPMed
gnomAD
CA390870844
rs1232243496
109 A>T No ClinGen
TOPMed
gnomAD
rs371331582
CA7328232
109 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377551906
CA265904818
110 I>T No ClinGen
ESP
rs139400221
CA7328231
111 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758331597
CA7328229
112 Q>K No ClinGen
ExAC
gnomAD
rs370684428
CA7328228
112 Q>R No ClinGen
ESP
ExAC
gnomAD
rs1378051469
CA390870817
113 G>A No ClinGen
gnomAD
CA390870820
rs1442346237
113 G>S No ClinGen
TOPMed
gnomAD
CA390870798
rs1258008953
116 H>N No ClinGen
gnomAD
rs1258008953
CA390870796
116 H>Y No ClinGen
gnomAD
rs768000133
CA7328224
119 H>R No ClinGen
ExAC
gnomAD
rs1008169641
CA265904761
122 T>S No ClinGen
TOPMed
CA7328222
rs377345508
123 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1218832763
CA390870756
123 V>I No ClinGen
gnomAD
CA390870755
rs1218832763
123 V>L No ClinGen
gnomAD
TCGA novel 124 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs35347445
CA7328221
124 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201146824
CA7328220
125 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7328219
rs202245237
126 K>* No ClinGen
1000Genomes
ExAC
gnomAD
rs202245237
CA7328218
126 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA390870733
rs1311006106
127 D>H No ClinGen
gnomAD
CA7328216
rs776328898
129 T>N No ClinGen
ExAC
gnomAD
TCGA novel 130 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770601864
CA7328215
131 K>E No ClinGen
ExAC
gnomAD
rs1380235478
CA390870695
132 M>I No ClinGen
TOPMed
rs1420929304
CA390870690
133 G>* No ClinGen
gnomAD
CA265904715
rs866767080
133 G>E No ClinGen
Ensembl
CA390870687
rs1358239157
134 S>C No ClinGen
gnomAD
rs746825992
CA7328214
136 L>I No ClinGen
ExAC
gnomAD
rs777591835
CA7328213
136 L>R No ClinGen
ExAC
gnomAD
rs746825992
CA265904712
136 L>V No ClinGen
ExAC
gnomAD
rs562308083
CA390870664
137 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7328211
rs768342050
138 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs61740030
CA7328210
139 K>Q No ClinGen
1000Genomes
ExAC
TOPMed
CA7328208
rs756197220
139 K>R No ClinGen
ExAC
gnomAD
rs201258446
CA265904678
145 Q>* No ClinGen
Ensembl
CA7328205
rs767692246
145 Q>R No ClinGen
ExAC
gnomAD
rs1375239336
CA390870590
148 F>L No ClinGen
TOPMed
CA390870584
rs1223572546
149 L>F No ClinGen
gnomAD
rs751912997
CA7328203
149 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs764481682
CA7328202
150 G>V No ClinGen
ExAC
gnomAD
CA7328201
rs763478766
151 N>K No ClinGen
ExAC
gnomAD
CA390870571
rs1566793282
152 V>I No ClinGen
Ensembl
rs775921571
CA7328200
153 K>R No ClinGen
ExAC
gnomAD
rs369836270
CA7328199
154 R>G No ClinGen
ESP
ExAC
gnomAD
CA390870558
rs369836270
154 R>W No ClinGen
ESP
ExAC
gnomAD
CA265904649
rs992103421
156 Y>C No ClinGen
TOPMed
CA390870522
rs1280579591
159 E>G No ClinGen
gnomAD
TCGA novel 160 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7328198
rs759100489
160 V>F No ClinGen
ExAC
gnomAD
TCGA novel 162 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs959655925
CA265904635
163 T>A No ClinGen
TOPMed
gnomAD
CA390870495
rs1209667326
163 T>I No ClinGen
TOPMed
CA390870490
rs1405637571
164 D>G No ClinGen
TOPMed
gnomAD
rs748943432
CA265904619
166 S>F No ClinGen
Ensembl
CA390870459
rs1176631530
169 S>P No ClinGen
gnomAD
TCGA novel 169 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1595668215
CA390870449
170 I>T No ClinGen
Ensembl
CA7328191
rs771840753
171 A>S No ClinGen
ExAC
gnomAD
CA7328189
rs373122783
173 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7328190
rs748100074
173 A>T No ClinGen
ExAC
TOPMed
gnomAD
COSM1225277
rs373122783
CA7328188
173 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390870425
rs1199629879
174 R>S No ClinGen
gnomAD
rs1453567568
CA390870419
175 I>N No ClinGen
gnomAD
CA7328184
rs751760583
177 S>R No ClinGen
ExAC
gnomAD
CA7328183
rs572845318
178 H>R No ClinGen
1000Genomes
ExAC
gnomAD
rs753044188
CA7328181
179 V>M No ClinGen
ExAC
gnomAD
rs765779875
CA7328180
180 K>R No ClinGen
ExAC
gnomAD
rs753317420
CA7328178
181 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA7328177
rs371514591
183 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390870363
rs371514591
183 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs78283108
CA7328176
184 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 185 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772853992
CA7328175
186 K>R No ClinGen
ExAC
gnomAD
CA390870338
rs1368395979
187 V>A No ClinGen
TOPMed
rs761759032
CA7328172
189 D>Y No ClinGen
ExAC
gnomAD
CA7328170
rs768756104
193 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs749200217
CA7328169
194 L>F No ClinGen
ExAC
gnomAD
CA390870286
rs1458366826
195 D>G No ClinGen
gnomAD
CA390870280
rs1240458729
196 L>F No ClinGen
gnomAD
rs1457730804
COSM1516178
CA390870273
197 L>P lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA7328167
rs575429531
198 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390870264
rs1346592749
199 A>S No ClinGen
TOPMed
gnomAD
rs1346592749
CA390870266
COSM1371813
199 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA390870249
rs1456752502
201 V>F No ClinGen
TOPMed
CA390870248
rs1216079990
201 V>G No ClinGen
TOPMed
CA390870244
rs1247869519
202 L>V No ClinGen
TOPMed
rs1377137276
CA390870215
205 H>P No ClinGen
gnomAD
CA265904464
rs963782904
205 H>Y No ClinGen
Ensembl
CA390870196
rs1333154966
206 I>T No ClinGen
gnomAD
COSM959183
rs1421153546
CA390870179
207 F>L endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
TCGA novel 210 A>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390870151
rs1401512477
210 A>P No ClinGen
gnomAD
CA390870150
rs1401512477
210 A>S No ClinGen
gnomAD
TCGA novel 211 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390869215
rs1214065256
211 K>N No ClinGen
gnomAD
rs143253931
CA7328134
212 W>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs189300483
CA7328133
212 W>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143253931
CA7328135
212 W>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775122463
CA7328132
213 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs759349102
CA7328130
217 H>L No ClinGen
ExAC
gnomAD
CA390869109
rs1400529842
217 H>Q No ClinGen
TOPMed
gnomAD
rs17090921
CA7328129
VAR_047345
218 P>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs17090921
CA390869096
218 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1353940315
CA390869092
219 E>K No ClinGen
TOPMed
rs185539688
CA7328126
220 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs185539688
CA7328127
220 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7328128
rs772080455
220 Y>H No ClinGen
ExAC
gnomAD
CA390869058
rs749711646
221 T>A No ClinGen
ExAC
gnomAD
CA7328123
rs780251195
221 T>R No ClinGen
ExAC
gnomAD
CA7328124
rs749711646
221 T>S No ClinGen
ExAC
gnomAD
CA390869004
rs1281746086
224 N>S No ClinGen
TOPMed
CA390868938
rs1190826843
228 L>V No ClinGen
TOPMed
gnomAD
CA390868923
rs1246870922
229 V>L No ClinGen
TOPMed
gnomAD
CA265902869
rs956228346
230 G>D No ClinGen
TOPMed
gnomAD
CA390868916
rs1223503981
230 G>S No ClinGen
gnomAD
CA7328118
rs370550742
231 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1276415036
CA390868890
232 Q>K No ClinGen
gnomAD
rs376958235
CA7328117
233 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764890158
CA7328115
235 V>L No ClinGen
ExAC
gnomAD
CA7328114
rs764890158
235 V>M No ClinGen
ExAC
gnomAD
rs867024120
CA390868816
236 H>N No ClinGen
gnomAD
CA390868806
rs1265046241
236 H>P No ClinGen
TOPMed
rs28583900
VAR_047346
CA7328113
236 H>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs867024120
CA265902839
236 H>Y No ClinGen
gnomAD
CA265902830
rs1011917518
237 V>A No ClinGen
TOPMed
CA7328112
rs753706799
238 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA390868781
rs753706799
238 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA390868747
rs1167935139
240 M>I No ClinGen
gnomAD
rs1566791816
CA390868702
243 K>Q No ClinGen
Ensembl
CA390868693
rs1425250069
243 K>R No ClinGen
gnomAD
CA7328110
rs761939141
244 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs539102578
CA265902816
244 E>D No ClinGen
1000Genomes
rs1192624890
CA390868683
244 E>Q No ClinGen
gnomAD
CA7328108
rs376153788
245 Q>H No ClinGen
ESP
ExAC
gnomAD
CA7328109
rs774392469
245 Q>P No ClinGen
ExAC
rs774392469
CA390868659
245 Q>R No ClinGen
ExAC
CA7328106
rs200406674
246 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390868649
rs1198992845
246 F>L No ClinGen
gnomAD
rs61761875
CA7328105
247 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7328104
rs61761875
247 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7328103
rs781778233
247 A>V No ClinGen
ExAC
gnomAD
CA390868606
rs1312909677
249 G>R No ClinGen
gnomAD
CA390868582
rs1362775364
251 D>N No ClinGen
TOPMed
CA390868559
rs1217735838
252 T>A No ClinGen
gnomAD
rs1370479292
CA390868547
253 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs193117791
CA7328101
254 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771379037
CA265902762
255 N>S No ClinGen
Ensembl
rs758103039
CA7328099
256 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA7328100
rs777372316
256 C>G No ClinGen
ExAC
gnomAD
CA390868491
rs1466990817
257 F>S No ClinGen
gnomAD
CA7328096
rs754788111
258 V>E No ClinGen
ExAC
gnomAD
rs1315112422
CA390868456
260 Q>* No ClinGen
TOPMed
CA7328095
rs753626112
260 Q>P No ClinGen
ExAC
gnomAD
rs761120358
CA265902734
261 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1358181806
CA390868445
261 M>L No ClinGen
TOPMed
CA390868441
rs1358181806
261 M>V No ClinGen
TOPMed
rs1287732141
CA390868390
263 Y>* No ClinGen
TOPMed
CA390868359
rs1441242975
265 G>A No ClinGen
gnomAD
CA7328094
rs766343410
265 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7328093
rs368986283
266 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372621576
CA7328091
268 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1208056037
CA390868293
269 A>V No ClinGen
TOPMed
gnomAD
rs775515416
CA7328089
270 F>I No ClinGen
ExAC
gnomAD
rs775515416
CA390868288
270 F>L No ClinGen
ExAC
gnomAD
rs770041574
CA7328088
272 V>D No ClinGen
ExAC
TOPMed
CA7328086
rs777118123
274 P>S No ClinGen
ExAC
gnomAD
CA7328085
rs771591706
277 G>D No ClinGen
ExAC
gnomAD
CA390868177
rs1310982694
277 G>S No ClinGen
gnomAD
rs747482522
CA7328084
278 K>R No ClinGen
ExAC
gnomAD
rs771427322
CA390868134
CA7328082
279 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA7328083
rs777343698
279 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs747682822
CA7328081
280 R>T No ClinGen
ExAC
gnomAD
rs1158942785
CA390868118
281 Q>* No ClinGen
gnomAD
CA390868098
rs1421119943
282 L>R No ClinGen
gnomAD
rs778497863
CA7328080
283 E>* No ClinGen
ExAC
gnomAD
CA390868095
rs778497863
283 E>Q No ClinGen
ExAC
gnomAD
rs975200178
CA265902661
284 Q>E No ClinGen
TOPMed
gnomAD
CA7328079
rs561114629
285 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs561114629
CA390868067
285 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA390868059
rs1258111947
285 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA390868044
rs1263985620
286 L>F No ClinGen
gnomAD
rs549191408
CA7328077
286 L>S No ClinGen
1000Genomes
ExAC
gnomAD
CA265902658
rs968763111
287 S>L No ClinGen
TOPMed
CA390868012
rs1340092516
289 R>I No ClinGen
TOPMed
gnomAD
VAR_047347
CA7328075
rs28618118
292 R>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1245918350
CA390867964
293 K>R No ClinGen
gnomAD
CA390867942
rs758462587
TCGA novel
rs1566791478
CA7328073
294 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
TOPMed
gnomAD
Ensembl
rs764246290
CA7328074
294 W>G No ClinGen
ExAC
gnomAD
CA390867934
rs752814721
295 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA7328072
rs752814721
295 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA390867917
rs1354334232
296 H>R No ClinGen
gnomAD
rs1401497567
CA390867892
298 L>H No ClinGen
gnomAD
rs777171061
CA7328069
299 Q>R No ClinGen
ExAC
gnomAD
CA390867851
rs368040594
301 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368040594
CA7328068
301 R>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390867855
rs1566791436
301 R>W No ClinGen
Ensembl
rs866545816
CA265900736
302 W>* No ClinGen
gnomAD
rs766696907
CA7328051
303 I>M No ClinGen
ExAC
gnomAD
CA265900733
rs748803342
304 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs767958462
CA7328048
306 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs1257263764
CA390867038
306 F>V No ClinGen
TOPMed
rs1199592839
CA390867021
307 I>V No ClinGen
TOPMed
CA7328047
rs762331920
309 R>I No ClinGen
ExAC
gnomAD
rs768085902
CA7328045
311 S>F No ClinGen
ExAC
gnomAD
CA7328046
rs773764334
311 S>P No ClinGen
ExAC
gnomAD
CA7328044
rs748951147
314 A>V No ClinGen
ExAC
gnomAD
rs1173195876
CA390866910
315 S>P No ClinGen
gnomAD
TCGA novel 315 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390866887
rs1483943489
316 Y>C No ClinGen
TOPMed
CA7328043
rs775178790
317 N>D No ClinGen
ExAC
gnomAD
CA7328042
COSM315091
rs769429068
317 N>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745686158
CA7328041
318 L>P No ClinGen
ExAC
gnomAD
rs779150873
CA7328037
322 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs76159860
CA7328035
323 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs76159860
CA265900655
323 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs983686317
COSM1516184
CA265900644
325 M>I lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA390866744
rs1349611465
325 M>T No ClinGen
TOPMed
gnomAD
CA7328033
rs756338732
326 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA7328031
rs767884108
328 Q>* No ClinGen
ExAC
gnomAD
CA390866708
rs767884108
328 Q>K No ClinGen
ExAC
gnomAD
CA7328030
VAR_047348
rs11628722
330 V>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs752046245
CA7328029
331 F>C No ClinGen
ExAC
gnomAD
CA390866598
rs762514287
334 N>K No ClinGen
ExAC
TOPMed
rs764570314
CA7328028
334 N>S No ClinGen
ExAC
gnomAD
rs1390177721
CA390866590
335 A>T No ClinGen
TOPMed
CA7328026
rs774947676
336 D>H No ClinGen
ExAC
gnomAD
CA7328023
rs776298818
341 A>T No ClinGen
ExAC
gnomAD
rs770704186
CA265900555
343 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770704186
CA7328022
343 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs777925704
CA7328020
346 L>P No ClinGen
ExAC
rs558575103
CA7328021
346 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390866415
rs1254757104
347 Q>H No ClinGen
gnomAD
rs77274019
CA7328017
348 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs77274019
CA7328016
348 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390866410
rs77274019
348 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA265900530
rs376738089
349 S>C No ClinGen
ESP
gnomAD
rs200842178
CA7328014
350 K>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1430262318
CA390865963
351 A>T No ClinGen
gnomAD
CA7327994
rs757386494
352 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA390865945
rs757386494
352 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1166135543
CA390865934
353 H>Y No ClinGen
TOPMed
rs546582038
CA265899076
355 A>G No ClinGen
1000Genomes
rs1163591248
CA390865901
355 A>P No ClinGen
gnomAD
CA7327992
rs747419955
359 V>F No ClinGen
ExAC
gnomAD
rs762872752
CA265899065
360 S>R No ClinGen
Ensembl
rs868625320
CA265899064
361 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 362 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA265899058
rs528042651
363 G>V No ClinGen
1000Genomes
CA7327990
rs758930818
365 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA390865798
rs1215285617
366 A>T No ClinGen
gnomAD
TCGA novel 366 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1595661497
CA390865793
367 T>P No ClinGen
Ensembl
CA7327989
rs753148839
368 A>V No ClinGen
ExAC
gnomAD
rs1385309859
CA390865759
372 T>I No ClinGen
TOPMed
rs1320685935
CA390865757
373 K>E No ClinGen
TOPMed
rs765652572
CA390865743
374 F>L No ClinGen
ExAC
gnomAD
rs1488911335
CA390865746
374 F>S No ClinGen
TOPMed
gnomAD
CA265899015
rs200611583
375 I>T No ClinGen
TOPMed
CA390865729
rs1199184319
377 R>* No ClinGen
gnomAD
CA7327987
rs199738408
377 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7327986
rs370040760
378 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1293492269
CA390865725
378 S>P No ClinGen
TOPMed
gnomAD
rs1293492269
CA390865726
378 S>T No ClinGen
TOPMed
gnomAD
CA7327984
rs760354488
380 D>A No ClinGen
ExAC
gnomAD
rs1306111241
CA390865712
380 D>N No ClinGen
TOPMed
gnomAD
CA7327983
rs773172843
381 G>S No ClinGen
ExAC
gnomAD
CA7327981
rs761855155
382 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA390865689
rs1355818470
384 Y>N No ClinGen
gnomAD
rs373779363
CA7327980
385 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7327978
rs745996886
389 F>L No ClinGen
ExAC
gnomAD
rs200415975
CA265898928
390 N>D No ClinGen
1000Genomes
gnomAD
CA390865647
rs1566788950
390 N>S No ClinGen
Ensembl
rs200415975
CA390865648
390 N>Y No ClinGen
1000Genomes
gnomAD
rs1259466119
CA390865642
391 R>G No ClinGen
TOPMed
CA7327977
rs776548862
391 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA265898911
rs1017990188
393 F>L No ClinGen
TOPMed
CA390865611
rs1481557321
395 M>I No ClinGen
gnomAD
CA7327976
COSM72600
rs769630965
396 M>I ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs563120500
CA7327975
397 I>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs563120500
CA265898879
397 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA265898869
rs78420865
398 T>K No ClinGen
Ensembl
rs758824369
CA7327973
399 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs544445563
CA7327972
401 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs779518053
CA7327971
402 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390865556
rs1296752288
404 G>D No ClinGen
TOPMed
rs371198029
CA7327969
404 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs183027056
CA7327968
405 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750037689
CA7327966
408 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA390865531
rs1338243754
408 L>P No ClinGen
TOPMed
CA265898802
rs368647334
409 G>E No ClinGen
ESP
rs761765070
CA7327964
410 K>* No ClinGen
ExAC
TCGA novel 410 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7327962
rs773985074
411 V>A No ClinGen
ExAC
gnomAD
rs764138245
CA7327961
412 E>* No ClinGen
ExAC
gnomAD
rs776799295
CA7327959
414 P>L No ClinGen
ExAC
gnomAD
CA7327960
rs201515358
414 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7327958
rs371000087
415 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390865487
rs1349528009
416 K>E No ClinGen
TOPMed
CA7327957
rs377392216
416 K>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374213651
CA265898784
417 S>F No ClinGen
ESP
TOPMed
gnomAD

No associated diseases with Q86WD7

2 regional properties for Q86WD7

Type Name Position InterPro Accession
conserved_site Serpin, conserved site 387 - 397 IPR023795
domain Serpin domain 48 - 414 IPR023796

Functions

Description
EC Number
Subcellular Localization
  • [Isoform 1]: Secreted
  • ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

1 GO annotations of molecular function

Name Definition
serine-type endopeptidase inhibitor activity Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme.

1 GO annotations of biological process

Name Definition
negative regulation of endopeptidase activity Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins.

35 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9N2I2 SERPINA5 Plasma serine protease inhibitor Bos taurus (Bovine) PR
P41361 SERPINC1 Antithrombin-III Bos taurus (Bovine) PR
A6QPQ2 SERPINA3-8 Serpin A3-8 Bos taurus (Bovine) PR
A2I7N1 SERPINA3-5 Serpin A3-5 Bos taurus (Bovine) PR
Q1JPB0 SERPINB1 Leukocyte elastase inhibitor Bos taurus (Bovine) PR
P13909 SERPINE1 Plasminogen activator inhibitor 1 Bos taurus (Bovine) PR
Q9TTE1 SERPINA3-1 Serpin A3-1 Bos taurus (Bovine) PR
O73790 SERPINB10 Heterochromatin-associated protein MENT Gallus gallus (Chicken) PR
P01008 SERPINC1 Antithrombin-III Homo sapiens (Human) PR
P05121 SERPINE1 Plasminogen activator inhibitor 1 Homo sapiens (Human) PR
P08697 SERPINF2 Alpha-2-antiplasmin Homo sapiens (Human) PR
P05155 SERPING1 Plasma protease C1 inhibitor Homo sapiens (Human) PR
P01011 SERPINA3 Alpha-1-antichymotrypsin Homo sapiens (Human) PR
P07093 SERPINE2 Glia-derived nexin Homo sapiens (Human) PR
Q9UK55 SERPINA10 Protein Z-dependent protease inhibitor Homo sapiens (Human) PR
Q96P15 SERPINB11 Serpin B11 Homo sapiens (Human) PR
Q5SV42 Serpinb1c Leukocyte elastase inhibitor C Mus musculus (Mouse) PR
Q07235 Serpine2 Glia-derived nexin Mus musculus (Mouse) PR
Q8CDC0 Serpinb13 Serpin B13 Mus musculus (Mouse) PR
P22777 Serpine1 Plasminogen activator inhibitor 1 Mus musculus (Mouse) PR
Q5I2A0 Serpina3g Serine protease inhibitor A3G Mus musculus (Mouse) PR
Q9JK88 Serpini2 Serpin I2 Mus musculus (Mouse) PR
P12388 Serpinb2 Plasminogen activator inhibitor 2, macrophage Mus musculus (Mouse) PR
P32261 Serpinc1 Antithrombin-III Mus musculus (Mouse) PR
Q9D154 Serpinb1a Leukocyte elastase inhibitor A Mus musculus (Mouse) PR
Q8BYY9 Serpina3b Serine protease inhibitor A3B Mus musculus (Mouse) PR
Q80X76 Serpina3f Serine protease inhibitor A3F Mus musculus (Mouse) PR
P29524 Serpinb2 Plasminogen activator inhibitor 2 type A Rattus norvegicus (Rat) PR
Q6P734 Serping1 Plasma protease C1 inhibitor Rattus norvegicus (Rat) PR
P05545 Serpina3k Serine protease inhibitor A3K Rattus norvegicus (Rat) PR
P07092 Serpine2 Glia-derived nexin Rattus norvegicus (Rat) PR
Q62975 Serpina10 Protein Z-dependent protease inhibitor Rattus norvegicus (Rat) PR
Q9ZQR6 At2g14540 Serpin-Z2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9M1T7 At3g45220 Serpin-Z4 Arabidopsis thaliana (Mouse-ear cress) PR
O48706 At2g26390 Serpin-Z3 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MASYLYGVLF AVGLCAPIYC VSPANAPSAY PRPSSTKSTP ASQVYSLNTD FAFRLYRRLV
70 80 90 100 110 120
LETPSQNIFF SPVSVSTSLA MLSLGAHSVT KTQILQGLGF NLTHTPESAI HQGFQHLVHS
130 140 150 160 170 180
LTVPSKDLTL KMGSALFVKK ELQLQANFLG NVKRLYEAEV FSTDFSNPSI AQARINSHVK
190 200 210 220 230 240
KKTQGKVVDI IQGLDLLTAM VLVNHIFFKA KWEKPFHPEY TRKNFPFLVG EQVTVHVPMM
250 260 270 280 290 300
HQKEQFAFGV DTELNCFVLQ MDYKGDAVAF FVLPSKGKMR QLEQALSART LRKWSHSLQK
310 320 330 340 350 360
RWIEVFIPRF SISASYNLET ILPKMGIQNV FDKNADFSGI AKRDSLQVSK ATHKAVLDVS
370 380 390 400 410
EEGTEATAAT TTKFIVRSKD GPSYFTVSFN RTFLMMITNK ATDGILFLGK VENPTKS