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 Q8IXQ4

Entry ID Method Resolution Chain Position Source
AF-Q8IXQ4-F1 Predicted AlphaFoldDB

292 variants for Q8IXQ4

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1566068355
CA388107934
2 A>T No ClinGen
Ensembl
rs1451653154
CA388107947
3 R>K No ClinGen
gnomAD
rs767792761
CA6970706
3 R>S No ClinGen
ExAC
gnomAD
TCGA novel 4 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6970707
rs750433831
4 D>H No ClinGen
ExAC
gnomAD
rs749786966
CA6970710
6 I>N No ClinGen
ExAC
CA388107991
rs1168925714
7 G>R No ClinGen
gnomAD
rs755545201
CA6970711
8 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6970712
rs151117256
9 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6970714
rs771849272
11 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs748584524
CA6970713
11 P>S No ClinGen
ExAC
gnomAD
rs1468648566
COSM947630
CA388108061
14 F>I Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA388108081
rs1200954156
15 K>N No ClinGen
TOPMed
rs1426669458
CA388108074
15 K>Q No ClinGen
TOPMed
CA388108092
rs1367903031
16 A>V No ClinGen
gnomAD
rs1436496208
CA388108095
17 R>C No ClinGen
gnomAD
rs1297271258
CA388108098
17 R>H No ClinGen
gnomAD
rs1012836860
CA249115519
18 G>R No ClinGen
TOPMed
CA6970717
rs773006887
19 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA388108119
rs773006887
19 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs746462611
CA6970718
21 E>V No ClinGen
ExAC
gnomAD
rs770372269
CA6970719
22 D>N No ClinGen
ExAC
gnomAD
rs9567515
CA249115553
24 E>* No ClinGen
gnomAD
rs9567515
CA388108170
24 E>K No ClinGen
gnomAD
rs1251603564
CA388108184
25 R>Q No ClinGen
TOPMed
rs1466169861
CA388108182
25 R>W No ClinGen
TOPMed
gnomAD
rs759361277
CA6970721
26 D>N No ClinGen
ExAC
gnomAD
CA6970722
rs769827322
28 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA388108217
rs769827322
28 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs762739923
CA6970724
29 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA388108227
rs1427174103
30 V>I No ClinGen
TOPMed
gnomAD
CA388095530
rs201119186
31 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201119186
CA6970747
31 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767368604
CA6970748
33 P>L No ClinGen
ExAC
gnomAD
rs767368604
CA388095554
33 P>Q No ClinGen
ExAC
gnomAD
TCGA novel 34 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388095560
rs1254239031
34 A>T No ClinGen
gnomAD
rs866821188
CA249085750
35 L>V No ClinGen
Ensembl
CA249085753
rs936258691
37 P>A No ClinGen
Ensembl
CA388095589
rs778253413
37 P>H No ClinGen
ExAC
gnomAD
CA6970751
rs778253413
37 P>R No ClinGen
ExAC
gnomAD
rs1566075396
CA388095630
40 K>N No ClinGen
Ensembl
CA388095626
rs1405910622
40 K>R No ClinGen
gnomAD
CA6970753
rs752004227
41 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA6970755
rs756855884
42 S>C No ClinGen
ExAC
gnomAD
rs780901562
CA6970756
42 S>N No ClinGen
ExAC
gnomAD
rs1392410720
CA388095668
43 S>R No ClinGen
TOPMed
rs975848492
CA249085816
44 S>L No ClinGen
Ensembl
CA388095720
rs1371961749
47 S>L No ClinGen
gnomAD
COSM1157958
rs1370501447
CA388095776
50 D>N Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA6970758
rs769366212
53 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1347144086
CA388095857
54 S>N No ClinGen
gnomAD
CA388095878
rs1231720927
55 S>C No ClinGen
gnomAD
CA388095877
COSM947631
rs1231720927
55 S>Y Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs749852854
CA6970760
58 E>K No ClinGen
ExAC
gnomAD
rs774122804
CA6970762
60 G>R No ClinGen
ExAC
rs1593389449
CA388095979
61 N>Y No ClinGen
Ensembl
rs374387240
CA6970765
63 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388096019
rs1489500239
63 E>A No ClinGen
gnomAD
CA6970764
rs374387240
63 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388096043
rs1210898729
64 S>F No ClinGen
gnomAD
CA388096046
rs1453130562
65 E>K No ClinGen
gnomAD
CA388096082
rs1391204634
66 E>D No ClinGen
gnomAD
CA388096100
rs765441196
67 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA388096093
rs1051193007
67 D>G No ClinGen
TOPMed
gnomAD
rs933953656
CA249085863
67 D>N No ClinGen
Ensembl
CA249085866
rs1051193007
67 D>V No ClinGen
TOPMed
gnomAD
CA388096146
rs1352459220
70 G>S No ClinGen
gnomAD
CA388096160
rs1277184165
71 P>A No ClinGen
TOPMed
TCGA novel 71 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388096158
rs1277184165
71 P>T No ClinGen
TOPMed
CA388096173
rs1293609294
72 T>A No ClinGen
gnomAD
rs146416511
CA6970770
72 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1299492481
CA388096183
73 A>T No ClinGen
gnomAD
rs1566076419
CA388096360
76 Q>* No ClinGen
Ensembl
rs775699882
CA6970791
79 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs368962766
CA249087507
80 Q>E No ClinGen
gnomAD
rs140772055
CA249087518
81 D>N No ClinGen
ESP
TOPMed
CA6970793
rs763128161
82 D>Y No ClinGen
ExAC
rs138421508
CA388096565
84 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6970798
rs138421508
84 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762040602
CA249087581
85 D>H No ClinGen
ExAC
gnomAD
rs762040602
CA6970799
85 D>N No ClinGen
ExAC
gnomAD
rs1269313452
CA388096614
86 D>H No ClinGen
gnomAD
CA388096668
rs1214014247
88 D>E No ClinGen
gnomAD
rs549136323
CA6970800
88 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA388096651
rs1451580266
88 D>Y No ClinGen
gnomAD
rs750797742
CA6970802
90 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs762704412 92 G>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs755746656
CA6970803
95 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA388096822
rs1188182309
95 L>V No ClinGen
gnomAD
rs566815689
CA6970804
97 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA388096885
rs1164085981
98 G>V No ClinGen
TOPMed
CA6970805
rs376629564
104 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1439892569
CA388097034
104 D>N No ClinGen
gnomAD
rs754500593
CA6970806
106 P>S No ClinGen
ExAC
gnomAD
rs1371384543
CA388097112
107 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6970816
rs780436691
108 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA6970817
rs201143423
110 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA6970818
rs201143423
110 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6970819
rs774332471
111 I>V No ClinGen
ExAC
gnomAD
rs773617980
CA6970822
116 P>T No ClinGen
ExAC
gnomAD
rs761036042
CA6970823
117 P>R No ClinGen
ExAC
gnomAD
CA249089667
rs941265455
117 P>S No ClinGen
Ensembl
CA388097936
rs1283691076
120 I>M No ClinGen
TOPMed
gnomAD
CA388097931
rs1219966872
120 I>V No ClinGen
gnomAD
TCGA novel 121 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388097974
rs1296223569
126 S>G No ClinGen
TOPMed
CA6970827
rs764774906
126 S>N No ClinGen
ExAC
gnomAD
rs752199424
CA6970828
127 D>G No ClinGen
ExAC
gnomAD
CA388097982
rs1421631210
127 D>Y No ClinGen
TOPMed
CA388097993
rs758343811
128 K>N No ClinGen
ExAC
gnomAD
rs777640115
CA6970830
129 G>S No ClinGen
ExAC
gnomAD
rs751340431
CA6970831
131 D>G No ClinGen
ExAC
gnomAD
rs780381420
CA388098026
133 P>L No ClinGen
ExAC
gnomAD
CA6970833
rs780381420
133 P>Q No ClinGen
ExAC
gnomAD
rs1278664846
CA388098024
133 P>S No ClinGen
gnomAD
rs143551108
CA6970834
134 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA388098040
rs1593393357
136 Q>* No ClinGen
Ensembl
TCGA novel 136 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1271189749
CA388098774
138 T>I No ClinGen
gnomAD
rs747485988
CA6970859
141 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA249094087
rs202130053
141 S>N No ClinGen
Ensembl
rs747485988
CA388098812
141 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1260816415
CA388098836
142 E>D No ClinGen
gnomAD
rs771477850
CA6970860
143 D>G No ClinGen
ExAC
gnomAD
CA388098855
rs1189852825
144 E>K No ClinGen
gnomAD
CA388098883
rs1162888130
145 D>G No ClinGen
gnomAD
CA6970863
rs377579851
145 D>N No ClinGen
ExAC
gnomAD
rs377579851
CA6970862
145 D>Y No ClinGen
ExAC
gnomAD
rs1230296031
CA388098900
146 I>T No ClinGen
gnomAD
rs1188284447
CA388098914
147 I>T No ClinGen
TOPMed
CA6970864
rs775026805
148 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762483039
CA388098943
149 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs762483039
CA6970865
149 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA388098955
rs1566079717
150 M>T No ClinGen
Ensembl
CA6970866
rs138236247
150 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6970867
rs200442730
152 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1593397719
CA388099076
157 N>K No ClinGen
Ensembl
rs761824589
CA6970869
158 Y>C No ClinGen
ExAC
TOPMed
rs1355768306
CA388099083
158 Y>H No ClinGen
gnomAD
rs767627715
CA6970870
159 N>T No ClinGen
ExAC
gnomAD
CA388099119
rs1242180443
160 V>L No ClinGen
TOPMed
rs181252018
CA6970873
COSM189018
161 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA6970872
rs181252018
161 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6970875
rs758690550
163 E>K No ClinGen
ExAC
gnomAD
rs1011510738
CA249094208
165 E>G No ClinGen
Ensembl
CA388099216
rs1390124867
166 K>* No ClinGen
TOPMed
rs747150093
CA6970877
166 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs200876314
CA388099237
167 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200876314
CA6970878
167 R>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA249094215
rs889458652
168 A>P No ClinGen
Ensembl
CA388099260
rs542957802
169 Q>L No ClinGen
gnomAD
CA249094217
rs542957802
169 Q>P No ClinGen
gnomAD
CA388099259
rs542957802
169 Q>R No ClinGen
gnomAD
rs1168405576
CA388099269
170 R>K No ClinGen
TOPMed
rs551869859
CA249094219
171 M>I No ClinGen
gnomAD
rs143717761
CA6970879
172 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs77395794
CA6970880
173 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1362624582
CA388099304
173 E>Q No ClinGen
gnomAD
rs770084225
CA388099332
175 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs770084225
CA6970881
175 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA6970882
rs371089645
176 T>A No ClinGen
ESP
ExAC
gnomAD
rs1310741661
CA388099352
177 K>N No ClinGen
gnomAD
rs752693280
CA6970883
178 G>E No ClinGen
ExAC
gnomAD
rs997872756
CA249094263
178 G>R No ClinGen
TOPMed
gnomAD
CA6970909
rs772823123
181 D>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 182 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs267603830
CA249094742
182 S>L No ClinGen
TOPMed
rs952884921
CA249094771
184 K>Q No ClinGen
TOPMed
rs1227982732
CA388099547
185 P>L No ClinGen
TOPMed
CA388099555
rs1452959625
186 I>V No ClinGen
gnomAD
CA388099583
rs1308005776
188 R>G No ClinGen
Ensembl
CA388099591
rs1593398397
188 R>I No ClinGen
Ensembl
CA6970913
rs147252479
191 W>R No ClinGen
ESP
ExAC
gnomAD
CA388099676
rs1397458499
193 T>I No ClinGen
gnomAD
rs201175008
CA249094782
195 L>P No ClinGen
Ensembl
rs568880282
CA6970914
196 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs151309735
CA6970915
197 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762060082
CA6970916
198 E>K No ClinGen
ExAC
gnomAD
CA249094812
rs970025410
201 D>H No ClinGen
Ensembl
CA6970918
rs750572846
202 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA6970920
rs140588373
203 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA388099917
rs754090863
204 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA6970921
rs754090863
204 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA6970922
rs755412992
204 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA249094848
rs1035030446
205 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6970923
rs778672412
205 G>R No ClinGen
ExAC
gnomAD
CA6970924
rs747774408
207 R>K No ClinGen
ExAC
gnomAD
rs771904351
CA6970925
208 T>A No ClinGen
ExAC
gnomAD
CA388100002
rs1185546937
209 F>S No ClinGen
gnomAD
TCGA novel 211 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388100044
rs1318355534
211 R>T No ClinGen
TOPMed
CA388100075
rs1421092359
212 R>G No ClinGen
gnomAD
rs777138102
CA388100084
212 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA388100092
rs1165014693
212 R>S No ClinGen
gnomAD
CA6970926
rs777138102
212 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA6970927
rs746598000
213 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA249094887
rs746598000
213 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1445010413
CA388100203
219 D>V No ClinGen
TOPMed
rs1389245268
CA388100212
220 R>* No ClinGen
TOPMed
rs770707629
CA6970928
220 R>Q No ClinGen
ExAC
gnomAD
rs776645654
CA6970929
221 S>T No ClinGen
ExAC
gnomAD
rs1184718108
CA388100250
223 W>* No ClinGen
TOPMed
CA388100294
rs1388017905
226 T>A No ClinGen
gnomAD
rs759279965
CA249094913
226 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs759279965
CA6970930
226 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1292773816
CA388100304
227 P>L No ClinGen
gnomAD
rs1292773816
CA388100301
227 P>Q No ClinGen
gnomAD
rs769545631
CA388100299
227 P>S No ClinGen
ExAC
gnomAD
rs769545631
CA6970931
227 P>T No ClinGen
ExAC
gnomAD
rs139281660
CA6970932
229 D>N No ClinGen
ESP
ExAC
gnomAD
CA249094937
rs915323277
230 R>G No ClinGen
gnomAD
rs1285630249
CA388100342
231 E>K No ClinGen
gnomAD
rs745781463
CA6970952
236 E>D No ClinGen
ExAC
gnomAD
CA388101940
rs1306321106
238 Q>R No ClinGen
gnomAD
CA6970953
rs769781122
CA249098468
239 E>D No ClinGen
ExAC
gnomAD
rs749083020
CA6970956
240 A>G No ClinGen
ExAC
gnomAD
TCGA novel 240 A>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749083020
CA6970955
240 A>V No ClinGen
ExAC
gnomAD
rs1436916009
CA388102059
245 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA388102154
rs1367732976
249 E>D No ClinGen
TOPMed
gnomAD
rs1273139158
CA388102210
252 I>M No ClinGen
gnomAD
rs766454946
CA6970959
252 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201980408
CA6970960
254 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA388102230
rs201980408
254 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1176681163
CA388102255
256 R>* No ClinGen
gnomAD
CA388102257
rs1254872425
256 R>K No ClinGen
gnomAD
rs1454543436
CA388102270
257 D>H No ClinGen
gnomAD
CA388102330
rs1427716068
260 L>V No ClinGen
TOPMed
CA388102362
rs1593404194
262 E>G No ClinGen
Ensembl
CA6970961
rs760111107
263 Q>H No ClinGen
ExAC
gnomAD
rs1593404216
CA388102394
264 V>G No ClinGen
Ensembl
CA6970962
rs765915069
264 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 266 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1190753444
CA388102410
266 S>P No ClinGen
TOPMed
rs1465563646
CA388102428
267 Y>C No ClinGen
TOPMed
CA388103085
rs1394696356
271 K>E No ClinGen
gnomAD
CA6970986
rs146604110
274 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA388103124
rs1216186689
277 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA388103134
rs1335349985
278 D>A No ClinGen
TOPMed
gnomAD
COSM106373
rs139408852
CA249103750
278 D>N skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA388103136
rs1335349985
278 D>V No ClinGen
TOPMed
gnomAD
rs749873272
CA6970989
279 I>T No ClinGen
ExAC
gnomAD
rs375918263
CA6970988
279 I>V No ClinGen
ESP
ExAC
gnomAD
rs755640220
CA6970990
280 H>R No ClinGen
ExAC
gnomAD
CA6970991
rs779924349
282 K>E No ClinGen
ExAC
gnomAD
rs956065476
CA249103777
282 K>R No ClinGen
Ensembl
TCGA novel 282 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 283 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753775576
CA6970992
284 L>F No ClinGen
ExAC
gnomAD
rs1194465234
CA388103186
285 K>N No ClinGen
TOPMed
rs1190108466
CA388103221
290 E>D No ClinGen
gnomAD
rs1045069851
CA249103786
292 K>E No ClinGen
TOPMed
gnomAD
CA388103244
rs1251743673
293 N>K No ClinGen
TOPMed
rs754922021
CA6970993
293 N>S No ClinGen
ExAC
gnomAD
CA388103254
rs1163282915
295 P>A No ClinGen
gnomAD
CA6970994
rs140198634
295 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6970995
rs571780303
300 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA388103291
rs571780303
300 P>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs771121202
CA6970996
302 D>A No ClinGen
ExAC
gnomAD
rs781578978
COSM1367014
CA6970997
303 R>C large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6970998
rs745895343
303 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1440859246
CA388103322
305 K>E No ClinGen
Ensembl
rs1227988962
CA388103337
307 L>V No ClinGen
TOPMed
CA249103841
rs865930227
308 K>R No ClinGen
Ensembl
rs770026778
CA6970999
309 V>I No ClinGen
ExAC
gnomAD
rs367606015
CA6971002
311 R>Q No ClinGen
ESP
ExAC
gnomAD
rs778797647
CA6971001
311 R>W No ClinGen
ExAC
rs1330161363
CA388103815
312 F>S No ClinGen
gnomAD
CA388103822
rs1318672040
313 D>N No ClinGen
gnomAD
rs1239441247
CA388103848
315 A>T No ClinGen
gnomAD
CA6971004
rs372113948
317 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6971005
rs143924848
319 A>T No ClinGen
ESP
ExAC
gnomAD
CA388103903
rs1371521005
319 A>V No ClinGen
TOPMed
CA6971006
rs554127017
320 L>I No ClinGen
1000Genomes
ExAC
gnomAD
CA6971009
rs760357344
321 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1566086213 323 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 324 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 324 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388103968
rs765851352
325 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs765851352
CA6971010
325 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1015373932
CA249103906
325 R>T No ClinGen
TOPMed
CA6971011
rs753349879
326 E>K No ClinGen
ExAC
gnomAD
TCGA novel 331 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388104088
rs1378820068
333 H>R No ClinGen
gnomAD
rs1375751912
CA388104123
335 K>T No ClinGen
gnomAD
CA388104138
rs1566086249
336 G>R No ClinGen
Ensembl
CA6971015
rs140810909
337 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758291758
CA388104177
338 M>R No ClinGen
ExAC
gnomAD
CA6971016
rs758291758
338 M>T No ClinGen
ExAC
gnomAD
rs543697222
CA6971017
340 L>* No ClinGen
1000Genomes
ExAC
gnomAD

No associated diseases with Q8IXQ4

1 regional properties for Q8IXQ4

Type Name Position InterPro Accession
domain Domain of unknown function DUF3752 196 - 332 IPR022226

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

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q69ZC8 Gpalpp1 GPALPP motifs-containing protein 1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MARDLIGPAL PPGFKARGTA EDEERDPSPV AGPALPPNYK SSSSDSSDSD EDSSSLYEEG
70 80 90 100 110 120
NQESEEDDSG PTARKQRKNQ DDDDDDDDGF FGPALPPGFK KQDDSPPRPI IGPALPPGFI
130 140 150 160 170 180
KSTQKSDKGR DDPGQQETDS SEDEDIIGPM PAKGPVNYNV TTEFEKRAQR MKEKLTKGDD
190 200 210 220 230 240
DSSKPIVRES WMTELPPEMK DFGLGPRTFK RRADDTSGDR SIWTDTPADR ERKAKETQEA
250 260 270 280 290 300
RKSSSKKDEE HILSGRDKRL AEQVSSYNES KRSESLMDIH HKKLKSKAAE DKNKPQERIP
310 320 330
FDRDKDLKVN RFDEAQKKAL IKKSRELNTR FSHGKGNMFL