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 P30532

Entry ID Method Resolution Chain Position Source
AF-P30532-F1 Predicted AlphaFoldDB

353 variants for P30532

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_046212
RCV000019049
CA127232
rs16969968
RCV000033213
RCV001787807
398 D>N Lung cancer susceptibility 2 Smoking as a quantitative trait locus 3 (sqtl3) Smoking as a quantitative trait locus 3 associated with susceptibility to lung cancer [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA393573033
rs1440785195
2 A>T No ClinGen
TOPMed
CA393573052
rs1200524514
5 G>W No ClinGen
TOPMed
rs943749647
CA273876658
6 S>A No ClinGen
Ensembl
CA273876664
rs997031085
6 S>L No ClinGen
TOPMed
gnomAD
CA393573074
rs1212609168
9 R>G No ClinGen
TOPMed
rs952978648
CA273876674
9 R>L No ClinGen
TOPMed
gnomAD
rs1243536405
CA393573083
11 L>F No ClinGen
TOPMed
CA393573094
rs1176168726
12 R>L No ClinGen
TOPMed
gnomAD
rs1567047819
CA393573106
15 L>F No ClinGen
Ensembl
rs1412015317
CA393573114
16 L>S No ClinGen
TOPMed
gnomAD
rs1471930543
CA393573157
23 R>C No ClinGen
TOPMed
CA393573185
rs1393430909
27 A>G No ClinGen
TOPMed
gnomAD
rs1393430909
CA393573184
27 A>V No ClinGen
TOPMed
gnomAD
rs982494622
CA393573199
30 A>P No ClinGen
TOPMed
gnomAD
rs982494622
CA273876694
30 A>S No ClinGen
TOPMed
gnomAD
CA393573200
rs1385607602
30 A>V No ClinGen
gnomAD
CA273876695
rs928078724
31 G>D No ClinGen
TOPMed
gnomAD
CA393573231
rs1356799887
35 R>T No ClinGen
TOPMed
TCGA novel 38 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748585735
CA7683921
38 S>P No ClinGen
ExAC
gnomAD
rs1185150285
CA393574832
39 E>A No ClinGen
gnomAD
rs772549498
CA7683923
40 P>R No ClinGen
ExAC
CA273885366
rs201999654
40 P>T No ClinGen
TOPMed
gnomAD
CA7683924
rs368213023
42 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393574853
rs1472743717
43 I>V No ClinGen
gnomAD
CA393574878
rs1401463534
46 H>R No ClinGen
gnomAD
rs199919224
CA273885389
49 S>N No ClinGen
Ensembl
CA393574910
rs1449551218
50 L>F No ClinGen
gnomAD
CA393574913
rs1395837475
51 L>F No ClinGen
Ensembl
CA7683926
rs745545261
55 F>L No ClinGen
ExAC
gnomAD
CA7683927
rs201040941
56 Q>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA393574951
rs201040941
56 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1314195232
CA393574955
57 D>H No ClinGen
gnomAD
rs202110255
CA273885408
57 D>V No ClinGen
Ensembl
CA7683929
rs79835149
58 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200129149
CA273885412
58 Y>H No ClinGen
Ensembl
CA7683930
rs543210727
59 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1258701597
CA393575033
62 V>I No ClinGen
gnomAD
CA7683931
rs183719313
63 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202057419
CA7683932
63 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA393575068
rs1300034813
64 P>L No ClinGen
TOPMed
CA7683936
rs760981472
67 H>Q No ClinGen
ExAC
gnomAD
rs201556084
CA7683934
67 H>R No ClinGen
ExAC
gnomAD
rs372781673
CA7683933
67 H>Y No ClinGen
ESP
ExAC
gnomAD
rs1311124863
CA393575120
68 L>M No ClinGen
gnomAD
CA7683937
rs754032640
68 L>P No ClinGen
ExAC
gnomAD
rs377184396
CA7683940
70 D>E No ClinGen
ESP
ExAC
TOPMed
CA393575149
rs1420220444
70 D>N No ClinGen
TOPMed
rs145146999
CA7683941
72 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 74 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778220199
CA7683943
76 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs56351164
CA7683942
76 F>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778220199
CA273885477
76 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA7683944
rs201569403
79 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA273885515
rs201569403
79 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs749900040
CA273885502
79 A>T No ClinGen
gnomAD
CA7683945
rs201569403
79 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7683946
rs199587175
80 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA7683948
rs768348027
81 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs771858151
CA7683951
83 L>F No ClinGen
ExAC
TOPMed
rs533238214
CA273885548
83 L>V No ClinGen
ExAC
gnomAD
CA7683952
rs773093762
84 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA393575472
rs1344573389
86 V>A No ClinGen
TOPMed
rs760430286
CA7683954
86 V>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
rs1286786146
CA393575651
90 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA273893070
rs199649840
93 M>K No ClinGen
Ensembl
CA7683967
rs757754067
94 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA273893081
rs200691818
95 T>R No ClinGen
Ensembl
CA7683969
rs148722844
COSM965386
97 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA273893082
rs555893661
98 W>* No ClinGen
1000Genomes
gnomAD
rs1014744827
CA273893083
101 Q>* No ClinGen
Ensembl
CA393575725
rs768366429
101 Q>L No ClinGen
ExAC
gnomAD
CA7683970
rs768366429
101 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 103 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393575762
rs1182689078
COSM70182
103 W>C ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs201778201
CA273894149
105 D>A No ClinGen
Ensembl
CA393575778
rs1157428538
105 D>Y No ClinGen
gnomAD
rs1406983247
CA393575796
106 V>A No ClinGen
gnomAD
CA393575839
rs1393443224
CA393575841
110 W>R No ClinGen
TOPMed
gnomAD
CA393575889
rs371640436
113 D>E No ClinGen
TOPMed
rs947116397
CA273894151
113 D>H No ClinGen
gnomAD
rs947116397
CA393575879
113 D>N No ClinGen
gnomAD
CA7683987
rs56023835
114 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA7683988
rs376394314
115 Y>C No ClinGen
ESP
ExAC
gnomAD
rs754710874
CA7683989
117 G>E No ClinGen
ExAC
gnomAD
rs1278994313
CA393575953
121 I>T No ClinGen
gnomAD
rs74913206
CA273894174
122 R>C No ClinGen
TOPMed
gnomAD
rs143659162
CA7683991
122 R>H No ClinGen
ESP
ExAC
gnomAD
CA273894180
rs892335479
124 P>L No ClinGen
TOPMed
rs777337280
CA7683995
128 V>L No ClinGen
ExAC
gnomAD
CA7683996
rs552142003
130 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA273894192
rs902937153
131 P>S No ClinGen
TOPMed
gnomAD
rs1180691964
CA393576083
132 D>E No ClinGen
TOPMed
gnomAD
CA393576101
rs2229961
134 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_046211
rs2229961
CA7683998
134 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1300630412
CA393576121
136 F>S No ClinGen
TOPMed
CA393576496
rs1256222956
139 A>T No ClinGen
TOPMed
gnomAD
CA273895081
rs765553764
142 R>C No ClinGen
Ensembl
CA273895086
rs200320233
142 R>H No ClinGen
TOPMed
CA393576552
rs1363250762
143 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs375192419
CA7684014
144 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1321014916
CA393576579
146 T>S No ClinGen
gnomAD
rs1371109938
CA393576581
147 S>G No ClinGen
gnomAD
rs201563436
CA7684015
148 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781155351
CA7684017
150 T>A No ClinGen
ExAC
gnomAD
rs199550371
CA273895106
150 T>I No ClinGen
TOPMed
gnomAD
CA393576604
rs199550371
150 T>R No ClinGen
TOPMed
gnomAD
rs1374967801
CA393576605
151 V>I No ClinGen
gnomAD
TCGA novel 152 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7684021
rs749486168
152 I>L No ClinGen
ExAC
gnomAD
CA273895149
rs949729557
154 Y>N No ClinGen
TOPMed
CA393576650
rs1237581945
157 T>I No ClinGen
TOPMed
CA7684024
rs774605972
157 T>P No ClinGen
ExAC
gnomAD
TCGA novel 158 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7684025
rs762012646
161 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs55863434
CA7684026
163 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 163 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7684028
rs200503890
166 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000957328
CA7684029
rs80087508
167 K>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1446367616
CA393576719
168 S>N No ClinGen
gnomAD
rs1259657704
CA393576716
168 S>R No ClinGen
gnomAD
CA7684030
rs754212902
168 S>R No ClinGen
ExAC
gnomAD
rs763840987
CA7684032
170 C>F No ClinGen
ExAC
gnomAD
rs751166834
CA7684033
171 T>A No ClinGen
ExAC
gnomAD
CA7684034
rs370096844
171 T>I No ClinGen
ESP
ExAC
gnomAD
CA393576760
rs1567062384
174 V>A No ClinGen
Ensembl
rs780615731
CA7684035
175 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA393576771
rs1567062410
176 F>C No ClinGen
Ensembl
CA273895290
rs71528534
176 F>L No ClinGen
Ensembl
CA273895292
COSM108281
rs151059425
178 P>L skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1383366253
CA393576799
CA393576800
180 D>E No ClinGen
TOPMed
gnomAD
CA273895293
rs151206721
180 D>N No ClinGen
ESP
TCGA novel 182 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393576811
rs1379297504
182 Q>R No ClinGen
TOPMed
CA393576822
rs1382179893
183 N>K No ClinGen
TOPMed
gnomAD
CA7684037
rs756066200
185 S>Y No ClinGen
ExAC
gnomAD
CA7684038
rs779762437
186 M>V No ClinGen
ExAC
gnomAD
CA273895304
rs1023953308
187 K>I No ClinGen
Ensembl
CA273895305
rs969761488
190 S>P No ClinGen
Ensembl
TCGA novel 195 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7684041
COSM1708432
rs779298057
196 S>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs768293774
CA7684040
196 S>T No ClinGen
ExAC
gnomAD
rs201173989
CA273895332
199 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201173989
CA7684043
199 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201956843
CA273895348
200 I>T No ClinGen
Ensembl
rs201487053
CA7684044
200 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761139232
CA7684045
203 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA393576963
rs1252536259
205 Q>K No ClinGen
gnomAD
CA273895355
rs75583038
209 K>* No ClinGen
ESP
TOPMed
rs1452385651
CA393577002
210 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs776966489
CA7684048
211 D>H No ClinGen
ExAC
gnomAD
CA7684049
rs759969645
213 F>S No ClinGen
ExAC
rs1202847637 214 D>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765530585
CA7684050
214 D>A No ClinGen
ExAC
gnomAD
rs1483907535
CA393577037
215 N>D No ClinGen
TOPMed
CA7684052
rs761452231
216 G>R No ClinGen
ExAC
gnomAD
CA273895391
rs1016759554
217 E>K No ClinGen
Ensembl
rs1223380364
CA393577070
219 E>A No ClinGen
TOPMed
rs201346280
CA273895440
220 I>M No ClinGen
Ensembl
rs1567062553
CA393577081
221 V>E No ClinGen
Ensembl
CA393577080
rs201803037
CA273895448
221 V>L No ClinGen
gnomAD
rs749927555
CA7684056
222 S>N No ClinGen
ExAC
gnomAD
CA7684057
rs200252306
223 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA393577103
rs1219531112
225 G>R No ClinGen
TOPMed
TCGA novel 226 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1334705709
CA393577133
229 N>T No ClinGen
TOPMed
gnomAD
rs753668181
CA7684059
COSM1740209
232 D>N haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs531823205
CA7684061
234 C>* No ClinGen
1000Genomes
ExAC
gnomAD
CA7684060
rs754813352
234 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1258493260
CA393577176
235 C>S No ClinGen
gnomAD
rs772406108
CA7684064
236 W>* No ClinGen
ExAC
gnomAD
rs778043206
CA7684065
236 W>C No ClinGen
ExAC
gnomAD
rs61742337
CA7684067
238 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393577198
rs61742337
238 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747148242
CA7684066
238 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA393577218
rs1372147833
241 T>I No ClinGen
TOPMed
CA7684068
CA273895522
rs201492819
242 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA393577230
rs1425060068
243 S>L No ClinGen
TOPMed
rs1164607160
CA393577243
245 V>A No ClinGen
gnomAD
rs150377720
CA7684069
246 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1044168331
CA273895526
246 I>V No ClinGen
Ensembl
rs770212312
CA7684070
248 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7684071
COSM1201124
rs775819304
248 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA273895533
rs775819304
248 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs137878726
CA7684072
249 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767124667
CA7684073
251 L>P No ClinGen
ExAC
gnomAD
rs372825597
CA7684074
252 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7684075
rs200232683
253 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs200232683
CA273895559
253 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA7684076
rs374468403
254 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA273895568
rs951884922
255 L>F No ClinGen
TOPMed
CA273895580
rs983271367
260 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1309089415
CA393577333
261 C>R No ClinGen
gnomAD
CA393577336
rs1314435912
261 C>Y No ClinGen
TOPMed
rs201483179
CA7684079
262 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs201483179
CA7684080
262 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA7684078
rs754958913
262 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1480433749
CA393577346
263 G>R No ClinGen
gnomAD
rs868352551
CA273895620
265 S>L No ClinGen
Ensembl
CA7684082
rs138719535
266 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7684084
rs142772554
270 L>F No ClinGen
ESP
ExAC
gnomAD
rs926986572
CA273895649
273 Y>C No ClinGen
TOPMed
CA393577414
rs1272590618
274 L>I No ClinGen
gnomAD
CA393577417
rs1596064105
274 L>R No ClinGen
Ensembl
CA273895652
rs936995586
275 P>S No ClinGen
TOPMed
CA7684087
rs781129738
276 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA7684088
rs371342198
278 E>A No ClinGen
ESP
ExAC
gnomAD
CA7684089
rs770263622
280 E>D No ClinGen
ExAC
gnomAD
CA7684090
rs565053075
282 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1567062751
CA393577477
283 C>S No ClinGen
Ensembl
CA7684091
rs749683576
285 C>R No ClinGen
ExAC
gnomAD
rs1017054259
CA273895733
287 S>L No ClinGen
TOPMed
gnomAD
rs147498556
CA7684093
288 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs148560500
CA273895749
289 L>R No ClinGen
ESP
TOPMed
CA7684094
rs760176741
289 L>V No ClinGen
ExAC
gnomAD
CA7684097
rs775987827
290 V>L No ClinGen
ExAC
gnomAD
CA393577527
rs1487143659
292 L>S No ClinGen
gnomAD
rs200972466
CA273895759
293 T>S No ClinGen
Ensembl
rs765300879
CA7684100
295 F>Y No ClinGen
ExAC
gnomAD
CA7684104
rs200010345
299 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA273895783
rs79518498
300 E>* No ClinGen
Ensembl
rs757408983
CA7684105
300 E>D No ClinGen
ExAC
gnomAD
TCGA novel 301 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs150696868
CA273895786
302 I>L No ClinGen
ESP
TOPMed
gnomAD
rs867154905
CA273895791
302 I>N No ClinGen
gnomAD
CA7684107
rs745918259
305 S>* No ClinGen
ExAC
gnomAD
rs1305978943
CA393577625
308 K>R No ClinGen
gnomAD
CA273895823
rs944978839
311 P>S No ClinGen
TOPMed
gnomAD
rs201569673
CA273895824
313 I>V No ClinGen
Ensembl
TCGA novel 315 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA273895825
rs868388135
316 Y>C No ClinGen
Ensembl
CA7684108
rs116099178
317 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 318 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7684110
rs74865777
321 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs200102110
CA273895831
324 V>L No ClinGen
Ensembl
TCGA novel 327 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393577802
rs1250686051
328 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7684111
rs769011950
329 M>V No ClinGen
ExAC
gnomAD
CA273895833
rs200946954
330 V>I No ClinGen
Ensembl
rs867013198
CA273895835
331 T>I No ClinGen
Ensembl
CA7684113
rs201259246
332 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA7684115
rs776310455
334 A>T No ClinGen
ExAC
gnomAD
CA7684116
rs759142711
334 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7684117
rs139612394
335 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7684118
rs775575449
337 I>F No ClinGen
ExAC
gnomAD
rs1436063972
CA393577931
338 H>D No ClinGen
gnomAD
rs1280180578
CA393577957
340 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs762980943
CA7684120
340 R>H No ClinGen
ExAC
gnomAD
rs202070829
CA273895886
343 S>A No ClinGen
Ensembl
CA393578020
rs1567062983
345 H>R No ClinGen
Ensembl
CA273895887
rs964002776
346 N>D No ClinGen
Ensembl
rs558752984
CA7684123
COSM965393
349 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA7684124
rs767663657
350 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1277622813
CA393578101
352 V>F No ClinGen
TOPMed
CA7684125
rs570647862
353 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7684126
rs201385812
353 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393578139
rs1400701147
355 I>M No ClinGen
TOPMed
CA7684128
rs201995384
355 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780040957
CA7684127
355 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs200449882
CA273895927
356 F>L No ClinGen
Ensembl
CA393578164
rs1476159331
358 H>Y No ClinGen
gnomAD
rs79721430
CA7684130
359 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393578190
rs1567063057
360 L>F No ClinGen
Ensembl
CA393578201
rs1480979773
361 P>S No ClinGen
TOPMed
CA393578209
rs1404966453
362 K>Q No ClinGen
gnomAD
rs79109919
CA7684132
RCV000887009
363 L>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA393578273
rs1596064293
367 R>G No ClinGen
Ensembl
CA393578296
rs1356352493
368 S>N No ClinGen
gnomAD
CA7684133
rs772437201
371 D>H No ClinGen
ExAC
gnomAD
rs1235714060
CA393578357
373 Y>H No ClinGen
gnomAD
rs1242573862
CA393578378
374 F>C No ClinGen
TOPMed
rs745450184
CA7684135
374 F>L No ClinGen
ExAC
gnomAD
CA393578387
rs1356157688
375 T>A No ClinGen
gnomAD
CA7684137
rs769498175
376 Q>L No ClinGen
ExAC
gnomAD
CA7684138
rs769498175
376 Q>P No ClinGen
ExAC
gnomAD
CA273896016
rs201916656
380 T>A No ClinGen
Ensembl
rs201916656
CA393578448
380 T>S No ClinGen
Ensembl
rs763035811
CA7684139
381 E>A No ClinGen
ExAC
gnomAD
CA393578490
rs1257638091
383 G>C No ClinGen
gnomAD
rs1185778769
CA393578514
385 G>R No ClinGen
gnomAD
CA393578608
rs1408455371
392 T>I No ClinGen
gnomAD
CA273896069
rs977099173
393 L>V No ClinGen
TOPMed
rs1376188067
CA393578624
394 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs143586773
CA7684148
396 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143586773
CA7684147
396 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA273896078
rs768325287
399 S>A No ClinGen
Ensembl
CA7684151
rs778281973
399 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA393578693
rs778281973
399 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA7684152
rs201775979
400 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA7684153
rs76766434
401 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM167539
CA7684154
rs141180754
401 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA273896104
rs76766434
401 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA273896108
rs1018181118
402 Y>H No ClinGen
Ensembl
rs1185773169
CA393578764
405 R>S No ClinGen
TOPMed
CA393578784
rs1356885864
407 I>T No ClinGen
gnomAD
CA393578802
rs1205594105
408 M>I No ClinGen
TOPMed
rs202178144
CA7684158
412 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA7684159
rs200127699
414 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771827809
CA7684160
414 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA393579145
rs1310445815
416 V>A No ClinGen
gnomAD
CA7684176
rs748912077
417 V>I No ClinGen
ExAC
gnomAD
rs778479885
CA393579172
419 D>E No ClinGen
ExAC
gnomAD
CA7684177
rs754450688
419 D>G No ClinGen
ExAC
gnomAD
rs1327013276
CA393579180
420 W>C No ClinGen
gnomAD
CA273897937
rs934230114
421 K>Q No ClinGen
TOPMed
rs1372664585
CA393579201
423 I>V No ClinGen
gnomAD
CA273897942
rs202052590
425 Q>R No ClinGen
TOPMed
gnomAD
rs150329151
CA7684179
426 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150329151
CA7684180
426 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7684182
rs368612437
429 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7684181
rs138253116
429 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770658199
CA7684183
430 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA393579257
rs1482714291
430 M>L No ClinGen
TOPMed
rs776726741
CA7684184
433 W>G No ClinGen
ExAC
gnomAD
rs1038461611
CA273897978
434 T>A No ClinGen
TOPMed
CA7684186
rs759802002
435 F>C No ClinGen
ExAC
gnomAD
CA393579301
rs1266274639
COSM1135727
435 F>L kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
CA7684188
rs144352852
COSM1135727
435 F>L kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA7684189
rs202066018
436 L>R No ClinGen
ESP
rs202136309
CA7684193
437 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs763412847
CA7684191
437 F>S No ClinGen
ExAC
gnomAD
CA7684194
rs367546696
438 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA273898036
rs367546696
438 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200357731
CA7684195
440 I>F No ClinGen
ExAC
gnomAD
CA7684197
rs754643899
440 I>T No ClinGen
ExAC
gnomAD
rs200357731
CA7684196
440 I>V No ClinGen
ExAC
gnomAD
rs77773727
CA273898080
442 G>E No ClinGen
Ensembl
rs148376112
CA273898079
442 G>R No ClinGen
ESP
TOPMed
rs200384194
CA273898086
443 S>Y No ClinGen
gnomAD
TCGA novel 444 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs532896027
CA7684199
446 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757859948
CA7684200
448 V>A No ClinGen
ExAC
gnomAD
rs1456048111
CA393579508
450 V>A No ClinGen
gnomAD
CA7684202
rs777707103
451 I>M No ClinGen
ExAC
gnomAD
CA273898113
rs959165006
451 I>T No ClinGen
Ensembl
CA7684203
rs746886634
453 K>* No ClinGen
ExAC
TOPMed
gnomAD
CA393579584
rs1159678265
455 A>E No ClinGen
TOPMed
rs1231126574
CA393579613
457 I>T No ClinGen
TOPMed
CA393579605
rs1378759354
457 I>V No ClinGen
TOPMed
gnomAD
rs770782949
CA393579643
460 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA7684204
rs770782949
460 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 461 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs76071148
CA7684205
462 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393579688
rs1318987637
463 I>M No ClinGen
gnomAD
rs746129356
CA7684206
463 I>T No ClinGen
ExAC
gnomAD
CA273898171
rs751038368
464 G>E No ClinGen
TOPMed
CA7684208
rs770027654
466 A>E No ClinGen
ExAC
TOPMed
CA273898178
rs200454752
467 N>S No ClinGen
gnomAD
CA393579726
rs200454752
467 N>T No ClinGen
gnomAD
rs1332485553
CA393579746
468 K>N No ClinGen
gnomAD
CA393579759
rs1481090382
469 K>C No ClinGen
gnomAD
rs775537854
CA7684209
469 K>R No ClinGen
ExAC
gnomAD

No associated diseases with P30532

4 regional properties for P30532

Type Name Position InterPro Accession
domain Neurotransmitter-gated ion-channel transmembrane domain 257 - 369 IPR006029-1
domain Neurotransmitter-gated ion-channel transmembrane domain 382 - 447 IPR006029-2
domain Neurotransmitter-gated ion-channel ligand-binding domain 48 - 249 IPR006202
conserved_site Neurotransmitter-gated ion-channel, conserved site 170 - 184 IPR018000

Functions

Description
EC Number
Subcellular Localization
  • Postsynaptic cell membrane; Multi-pass membrane protein
  • Cell membrane; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
acetylcholine-gated channel complex A homo- or hetero-pentameric protein complex that forms a transmembrane channel through which ions may pass in response to acetylcholine binding.
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
dopaminergic synapse A synapse that uses dopamine as a neurotransmitter.
integral component of plasma membrane The component of the plasma 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.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic membrane A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

6 GO annotations of molecular function

Name Definition
acetylcholine receptor activity Combining with an acetylcholine receptor ligand and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
acetylcholine-gated cation-selective channel activity Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine.
excitatory extracellular ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential.
ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.
neurotransmitter receptor activity Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity.
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential.

10 GO annotations of biological process

Name Definition
behavioral response to nicotine Any process that results in a change in the behavior of an organism as a result of a nicotine stimulus.
chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
ion transmembrane transport A process in which an ion is transported across a membrane.
membrane depolarization The process in which membrane potential decreases with respect to its steady-state potential, usually from negative potential to a more positive potential. For example, the initial depolarization during the rising phase of an action potential is in the direction from the negative steady-state resting potential towards the positive membrane potential that will be the peak of the action potential.
nervous system process A organ system process carried out by any of the organs or tissues of neurological system.
regulation of membrane potential Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.
regulation of synaptic vesicle exocytosis Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis.
response to nicotine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nicotine stimulus.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
synaptic transmission, cholinergic The vesicular release of acetylcholine from a presynapse, across a chemical synapse, the subsequent activation of dopamine receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.

37 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q07263 CHRNA3 Neuronal acetylcholine receptor subunit alpha-3 Bos taurus (Bovine) PR
P04758 CHRNB1 Acetylcholine receptor subunit beta Bos taurus (Bovine) PR
Q8SPU7 CHRNA5 Neuronal acetylcholine receptor subunit alpha-5 Bos taurus (Bovine) PR
P09481 CHRNA3 Neuronal acetylcholine receptor subunit alpha-3 Gallus gallus (Chicken) PR
Q9I8C7 CHRNA10 Neuronal acetylcholine receptor subunit alpha-10 Gallus gallus (Chicken) PR
P43679 CHRNB3 Neuronal acetylcholine receptor subunit beta-3 Gallus gallus (Chicken) PR
P26152 CHRNA5 Neuronal acetylcholine receptor subunit alpha-5 Gallus gallus (Chicken) PR
Q5IS76 CHRNA6 Neuronal acetylcholine receptor subunit alpha-6 Pan troglodytes (Chimpanzee) PR
Q5IS75 CHRNB3 Neuronal acetylcholine receptor subunit beta-3 Pan troglodytes (Chimpanzee) PR
P25162 nAChRbeta2 Acetylcholine receptor subunit beta-like 2 Drosophila melanogaster (Fruit fly) PR
Q05901 CHRNB3 Neuronal acetylcholine receptor subunit beta-3 Homo sapiens (Human) PR
P14867 GABRA1 Gamma-aminobutyric acid receptor subunit alpha-1 Homo sapiens (Human) PR
O14764 GABRD Gamma-aminobutyric acid receptor subunit delta Homo sapiens (Human) PR
Q9UN88 GABRQ Gamma-aminobutyric acid receptor subunit theta Homo sapiens (Human) PR
P11230 CHRNB1 Acetylcholine receptor subunit beta Homo sapiens (Human) PR
Q15825 CHRNA6 Neuronal acetylcholine receptor subunit alpha-6 Homo sapiens (Human) PR
P32297 CHRNA3 Neuronal acetylcholine receptor subunit alpha-3 Homo sapiens (Human) PR
P48167 GLRB Glycine receptor subunit beta Homo sapiens (Human) PR
P23415 GLRA1 Glycine receptor subunit alpha-1 Homo sapiens (Human) PR
O75311 GLRA3 Glycine receptor subunit alpha-3 Homo sapiens (Human) PR
P23979 Htr3a 5-hydroxytryptamine receptor 3A Mus musculus (Mouse) PR
P04756 Chrna1 Acetylcholine receptor subunit alpha Mus musculus (Mouse) PR
Q9R0W9 Chrna6 Neuronal acetylcholine receptor subunit alpha-6 Mus musculus (Mouse) PR
P09690 Chrnb1 Acetylcholine receptor subunit beta Mus musculus (Mouse) PR
Q8BMN3 Chrnb3 Neuronal acetylcholine receptor subunit beta-3 Mus musculus (Mouse) PR
Q2MKA5 Chrna5 Neuronal acetylcholine receptor subunit alpha-5 Mus musculus (Mouse) PR
P43144 Chrna9 Neuronal acetylcholine receptor subunit alpha-9 Rattus norvegicus (Rat) PR
P35563 Htr3a 5-hydroxytryptamine receptor 3A Rattus norvegicus (Rat) PR
P43143 Chrna6 Neuronal acetylcholine receptor subunit alpha-6 Rattus norvegicus (Rat) PR
P12391 Chrnb3 Neuronal acetylcholine receptor subunit beta-3 Rattus norvegicus (Rat) PR
P04757 Chrna3 Neuronal acetylcholine receptor subunit alpha-3 Rattus norvegicus (Rat) PR
P25109 Chrnb1 Acetylcholine receptor subunit beta Rattus norvegicus (Rat) PR
P25108 Chrna1 Acetylcholine receptor subunit alpha Rattus norvegicus (Rat) PR
P20420 Chrna5 Neuronal acetylcholine receptor subunit alpha-5 Rattus norvegicus (Rat) PR
P54244 deg-3 Acetylcholine receptor subunit alpha-type deg-3 Caenorhabditis elegans PR
P54246 acr-5 Acetylcholine receptor subunit alpha-type acr-5 Caenorhabditis elegans PR
Q93149 acr-3 Acetylcholine receptor subunit beta-type acr-3 Caenorhabditis elegans PR
10 20 30 40 50 60
MAARGSGPRA LRLLLLVQLV AGRCGLAGAA GGAQRGLSEP SSIAKHEDSL LKDLFQDYER
70 80 90 100 110 120
WVRPVEHLND KIKIKFGLAI SQLVDVDEKN QLMTTNVWLK QEWIDVKLRW NPDDYGGIKV
130 140 150 160 170 180
IRVPSDSVWT PDIVLFDNAD GRFEGTSTKT VIRYNGTVTW TPPANYKSSC TIDVTFFPFD
190 200 210 220 230 240
LQNCSMKFGS WTYDGSQVDI ILEDQDVDKR DFFDNGEWEI VSATGSKGNR TDSCCWYPYV
250 260 270 280 290 300
TYSFVIKRLP LFYTLFLIIP CIGLSFLTVL VFYLPSNEGE KICLCTSVLV SLTVFLLVIE
310 320 330 340 350 360
EIIPSSSKVI PLIGEYLVFT MIFVTLSIMV TVFAINIHHR SSSTHNAMAP LVRKIFLHTL
370 380 390 400 410 420
PKLLCMRSHV DRYFTQKEET ESGSGPKSSR NTLEAALDSI RYITRHIMKE NDVREVVEDW
430 440 450 460
KFIAQVLDRM FLWTFLFVSI VGSLGLFVPV IYKWANILIP VHIGNANK