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

2 structures for Q14183

Entry ID Method Resolution Chain Position Source
4MJJ X-ray 200 A A 81-217 PDB
AF-Q14183-F1 Predicted AlphaFoldDB

359 variants for Q14183

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 1 M>? Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1199858945
CA395554661
4 R>C No ClinGen
TOPMed
gnomAD
rs566408074
CA8000271
4 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8000269
rs764874832
5 R>K No ClinGen
ExAC
gnomAD
rs751345208
CA8000268
5 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA8000266
rs764049396
6 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs763993103
CA8000262
7 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA395554612
rs763993103
7 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763993103
CA8000263
7 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8000261
rs547661048
8 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8000260
rs771071631
8 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA280432579
rs771071631
8 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA395554573
rs749341101
CA395554578
9 M>L No ClinGen
ExAC
TOPMed
CA8000259
rs749341101
9 M>V No ClinGen
ExAC
TOPMed
rs777748448
CA8000258
11 I>T No ClinGen
ExAC
gnomAD
CA8000257
rs756614880
15 E>K No ClinGen
ExAC
gnomAD
rs755268552
CA395554339
21 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8000253
rs755268552
21 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA395554282
rs1178069627
24 G>R No ClinGen
gnomAD
CA8000249
rs753354648
27 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM255917
rs1008963632
CA280432494
27 R>W central_nervous_system [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA8000248
rs763558398
30 R>C No ClinGen
ExAC
gnomAD
CA8000247
rs140407692
30 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1238273782
CA395554139
32 I>L No ClinGen
gnomAD
CA8000245
rs752752634
32 I>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
CA280432430
rs922351244
38 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
gnomAD
NCI-TCGA
rs759347857
CA8000244
38 R>P No ClinGen
ExAC
gnomAD
rs759347857
CA8000243
38 R>Q No ClinGen
ExAC
gnomAD
CA395554007
rs922351244
38 R>W No ClinGen
TOPMed
gnomAD
CA8000242
rs774311560
39 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA8000241
rs771145635
40 P>L No ClinGen
ExAC
gnomAD
CA395553942
rs1217537559
42 P>T No ClinGen
TOPMed
rs200955492
CA8000240
44 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200955492
CA395553897
44 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs993460814
CA280432409
44 G>W No ClinGen
Ensembl
rs1380522223
CA395553883
45 G>D No ClinGen
gnomAD
rs773327302
CA8000239
45 G>S No ClinGen
ExAC
gnomAD
CA8000237
rs201903058
46 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201903058
CA8000236
46 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1490556443
CA395553868
46 G>V No ClinGen
TOPMed
CA8000234
rs200009355
CA395553861
47 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1140239
CA8000233
48 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA395553832
rs1171260969
48 G>D No ClinGen
TOPMed
CA8000231
rs1140239
RCV000948977
VAR_019656
48 G>S No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs371010624
CA8000229
49 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8000225
rs199677332
50 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8000224
rs751370717
50 G>V No ClinGen
ExAC
gnomAD
CA8000226
rs199677332
50 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1377321
CA8000219
rs763231450
CA395553762
51 E>D Variant assessed as Somatic; impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1043130237
CA8000220
51 E>G No ClinGen
Ensembl
CA395553743
rs770068218
52 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs770068218
CA8000216
52 A>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 52 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs925609520
CA280432207
52 A>T No ClinGen
Ensembl
CA8000217
rs770068218
52 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8000214
rs200173913
53 P>S No ClinGen
1000Genomes
ExAC
CA8000210
rs200685888
54 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8000212
rs200685888
54 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8000208
rs780451648
55 H>P No ClinGen
ExAC
rs1336102133
CA395553695
55 H>Y No ClinGen
gnomAD
CA395553649
rs1360825803
57 V>A No ClinGen
gnomAD
CA280432137
rs375607573
58 P>R No ClinGen
Ensembl
CA395553633
rs1456021872
58 P>S No ClinGen
gnomAD
CA395553596
rs1367105338
60 A>D No ClinGen
TOPMed
gnomAD
CA395553594
rs1367105338
COSM1250509
60 A>V oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1263946635
CA395553563
62 A>D No ClinGen
TOPMed
CA395553548
rs1475824809
63 P>S No ClinGen
gnomAD
CA8000197
rs745882272
64 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1294442991
CA395553531
64 P>L No ClinGen
TOPMed
gnomAD
rs753153258 64 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1294442991
CA395553532
64 P>R No ClinGen
TOPMed
gnomAD
rs745882272
CA395553539
64 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8000198
rs745882272
64 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs753153258 65 A>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1487993007
COSM74418
CA395553521
65 A>V ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1262745200
CA395553511
66 A>G No ClinGen
gnomAD
CA8000192
rs148245512
67 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395553504
rs1487601103
67 L>H No ClinGen
gnomAD
CA395553498
rs1426914858
68 L>F No ClinGen
TOPMed
CA8000191
rs751515684
68 L>P No ClinGen
ExAC
gnomAD
CA395553476
rs4566183
71 T>A No ClinGen
Ensembl
rs4566183
CA280432025
71 T>P No ClinGen
Ensembl
CA8000189
rs758069645
72 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750254693
CA8000188
74 E>D No ClinGen
ExAC
gnomAD
rs1326532798
CA395553412
75 D>N No ClinGen
gnomAD
rs546020288
CA8000186
77 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA395553361
rs1314252305
79 V>A No ClinGen
TOPMed
CA395553358
rs1314252305
79 V>G No ClinGen
TOPMed
rs764214638
CA395553349
80 D>E No ClinGen
ExAC
gnomAD
TCGA novel 82 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 83 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8000182
rs775797559
COSM1377319
84 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8000180
rs369604822
85 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395553264
rs1316486452
85 D>H No ClinGen
TOPMed
rs1373741383
CA395553253
86 D>Y No ClinGen
gnomAD
rs769541112
CA8000178
87 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs774811229
CA395553225
87 A>P No ClinGen
ExAC
gnomAD
rs774811229
CA8000179
87 A>T No ClinGen
ExAC
gnomAD
CA395553216
rs1266924716
88 T>P No ClinGen
gnomAD
CA395552808
rs754124502
89 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs754124502
CA8000166
89 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA395552804
rs1343641608
89 A>V No ClinGen
gnomAD
TCGA novel 91 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395552787
rs1236071497
91 G>D No ClinGen
gnomAD
CA280431524
rs1140240
92 T>K No ClinGen
gnomAD
CA280431521
rs1140240
92 T>M No ClinGen
gnomAD
rs767876453
CA395552695
99 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs775662234
CA8000163
99 Y>F No ClinGen
ExAC
gnomAD
TCGA novel 99 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA280431503
rs933220946
100 D>H No ClinGen
TOPMed
gnomAD
rs933220946
CA280431504
100 D>N No ClinGen
TOPMed
gnomAD
rs200020237
CA8000161
101 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA280431497
rs919119708
101 R>W No ClinGen
Ensembl
rs1278562286
CA395552675
102 A>T No ClinGen
TOPMed
CA395552640
rs1378689036
104 C>W No ClinGen
gnomAD
rs1255445918
CA395552609
107 H>Q No ClinGen
gnomAD
CA395552565
rs1470378618
111 L>F No ClinGen
gnomAD
CA395552562
rs1234575677
111 L>P No ClinGen
TOPMed
gnomAD
TCGA novel 111 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395552557
rs1441723310
112 R>K No ClinGen
gnomAD
CA8000142
rs767004365
115 G>S No ClinGen
ExAC
gnomAD
CA395552451
rs1431769712
118 P>S No ClinGen
gnomAD
CA395552445
rs1490582190
119 M>V No ClinGen
TOPMed
rs1201616208
CA395552423
120 D>G No ClinGen
TOPMed
rs1347118535
CA395552406
121 F>L No ClinGen
gnomAD
rs888805591
CA280431244
122 N>S No ClinGen
TOPMed
gnomAD
rs867280784
CA395552386
123 G>D No ClinGen
gnomAD
rs1460719308
CA395552390
123 G>S No ClinGen
TOPMed
gnomAD
CA280431241
rs867280784
123 G>V No ClinGen
gnomAD
rs1476771800
CA395552370
125 A>T No ClinGen
TOPMed
gnomAD
CA8000138
rs372290822
126 D>N No ClinGen
ESP
ExAC
gnomAD
CA8000135
rs1364504112
129 V>I No ClinGen
TOPMed
rs1274158185
CA395552306
132 H>Y No ClinGen
gnomAD
rs1272384491
CA395552266
135 P>L No ClinGen
gnomAD
rs1215237040
CA395552256
137 A>D No ClinGen
gnomAD
TCGA novel 137 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1215237040
CA395552254
137 A>V No ClinGen
gnomAD
CA8000111
rs777535448
140 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8000110
rs769699664
141 N>S No ClinGen
ExAC
gnomAD
rs781424313
CA8000108
142 K>Q No ClinGen
ExAC
gnomAD
CA8000107
rs755183524
142 K>R No ClinGen
ExAC
gnomAD
CA280431121
rs948108194
144 K>R No ClinGen
Ensembl
CA8000106
rs747051337
145 T>K No ClinGen
ExAC
gnomAD
rs1210242780
CA395552185
146 K>N No ClinGen
gnomAD
rs200073865
CA8000104
148 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
rs141230451
CA8000103
149 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395552150
rs1305080428
152 L>M No ClinGen
TOPMed
CA8000102
rs765665192
154 P>S No ClinGen
ExAC
gnomAD
rs1567281609
CA395552127
155 V>G No ClinGen
Ensembl
rs377448847
CA8000101
156 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8000099
rs200640037
159 D>H No ClinGen
1000Genomes
ExAC
rs200874282
CA8000096
163 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762875731
CA8000095
164 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 165 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1159116238
CA395552053
166 T>R No ClinGen
TOPMed
CA395552035
rs1363595453
169 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs747932681
CA395552017
171 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs747932681
CA8000092
171 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA8000090
rs768972930
173 K>T No ClinGen
ExAC
gnomAD
rs747292511
CA8000089
174 V>A No ClinGen
ExAC
gnomAD
rs1485633066
CA395551993
175 L>F No ClinGen
gnomAD
rs199801773
CA8000062
177 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs371808877
CA395550532
178 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371808877
COSM184913
CA8000060
178 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8000059
rs367572265
179 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139432976
CA8000058
181 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395550455
rs139432976
181 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8000057
rs764708447
182 E>K No ClinGen
ExAC
gnomAD
CA280428877
rs191060572
187 H>P No ClinGen
1000Genomes
CA395550145
rs1452760999
188 N>D No ClinGen
gnomAD
rs1031612341
CA280428871
188 N>S No ClinGen
TOPMed
gnomAD
rs765857200
CA280428854
190 F>I No ClinGen
Ensembl
CA8000055
rs753651850
191 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA395550042
rs1368195930
192 G>R No ClinGen
Ensembl
CA395550040
rs1368195930
192 G>W No ClinGen
Ensembl
rs775802877
CA280428838
193 E>* No ClinGen
Ensembl
CA8000053
rs142406537
195 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8000052
rs374821872
195 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395549927
rs1339517579
196 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395549853
rs1231639597
199 R>C Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM184912
CA395549849
rs1346621524
199 R>H Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA8000048
rs770987510
200 R>C No ClinGen
ExAC
gnomAD
rs147170771
CA8000047
200 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8000046
rs200639006
204 S>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1185050003
CA395549723
205 Q>E No ClinGen
TOPMed
rs139431507
CA8000044
207 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1169654140
CA395549649
207 K>R No ClinGen
gnomAD
rs1051175353 207 K>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs781582421
CA8000043
208 H>Q No ClinGen
ExAC
TOPMed
TCGA novel 208 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8000042
rs758051622
211 I>V No ClinGen
ExAC
gnomAD
TCGA novel 212 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395549502
rs778631184
214 E>* No ClinGen
ExAC
TOPMed
gnomAD
COSM1301850
CA8000040
rs778631184
214 E>K urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8000039
rs756663763
215 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs753409511
CA8000038
215 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1485174083
CA395549382
218 P>L No ClinGen
TOPMed
gnomAD
rs1485174083
CA395549384
218 P>Q No ClinGen
TOPMed
gnomAD
rs1390800519
CA395549236
220 A>E No ClinGen
TOPMed
gnomAD
rs773264300
CA8000011
220 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1390800519
CA395549229
220 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8000009
rs761882236
221 S>F No ClinGen
ExAC
gnomAD
rs945021350
CA280428429
221 S>P No ClinGen
Ensembl
CA395549094
rs1596697451
225 M>I No ClinGen
Ensembl
CA395549100
rs1417682646
225 M>T No ClinGen
gnomAD
rs1417970643
CA395549117
225 M>V No ClinGen
gnomAD
CA8000008
rs202009086
227 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747294200
CA8000006
228 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8000004
rs770468720
229 L>V No ClinGen
ExAC
gnomAD
rs1238850129
CA395548904
231 G>D No ClinGen
gnomAD
CA395548924
rs1212381611
231 G>S No ClinGen
gnomAD
CA395548875
rs1334694323
232 I>T No ClinGen
gnomAD
rs1485800947
CA395548831
233 S>C No ClinGen
TOPMed
CA395548793
rs1190528771
234 C>F No ClinGen
TOPMed
gnomAD
CA395548712
rs1445937607
236 L>V No ClinGen
TOPMed
gnomAD
rs529504458
CA7999981
239 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 241 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772945741
CA7999979
242 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1276009424
CA395548222
243 E>K No ClinGen
Ensembl
rs780797462
CA7999976
245 G>E No ClinGen
ExAC
TOPMed
rs1479913833
CA395548169
245 G>R No ClinGen
gnomAD
CA395548123
rs1455461634
246 Q>H No ClinGen
TOPMed
CA395548105
rs1166894887
247 G>E No ClinGen
TOPMed
TCGA novel 251 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7999973
rs747032028
252 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA280428116
rs1013155790
252 R>H No ClinGen
TOPMed
gnomAD
CA280428114
rs958889356
253 G>S No ClinGen
Ensembl
CA7999972
rs779856487
254 R>C No ClinGen
ExAC
gnomAD
CA395547934
rs1233786472
254 R>H No ClinGen
TOPMed
gnomAD
rs948766956
CA280428087
260 S>R No ClinGen
TOPMed
CA395547688
rs1303061951
260 S>T No ClinGen
gnomAD
CA395547556
rs1433374595
262 S>G No ClinGen
TOPMed
rs1596696321
CA395547511
263 S>A No ClinGen
Ensembl
rs1372518536
CA395547472
263 S>L No ClinGen
gnomAD
rs200593523
CA395547455
264 R>P No ClinGen
ESP
TOPMed
gnomAD
rs200593523
CA280428079
264 R>Q No ClinGen
ESP
TOPMed
gnomAD
CA395547460
rs1411105634
264 R>W No ClinGen
gnomAD
CA7999971
rs758127824
265 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM969753
CA7999970
rs200195038
265 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200195038
CA395547438
265 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370463371
CA7999969
266 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7999967
rs764293462
266 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA7999966
rs764293462
266 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7999968
rs370463371
266 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1407880154
CA395547388
267 G>E No ClinGen
gnomAD
rs924400068
CA280428005
268 L>M No ClinGen
TOPMed
CA395547291
rs1596696093
270 V>G No ClinGen
Ensembl
CA395547311
rs1255426896
270 V>I No ClinGen
gnomAD
CA7999957
rs750445623
COSM1377317
274 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs372195259
CA7999956
274 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395547169
rs138648401
275 C>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1404886249
CA395547183
275 C>G No ClinGen
TOPMed
CA7999954
COSM969752
rs746511437
276 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA280427935
rs1053656341
279 A>P No ClinGen
Ensembl
CA395546931
rs1292072657
281 M>T No ClinGen
gnomAD
CA395546884
rs1466702664
282 D>G No ClinGen
gnomAD
rs868497849
CA280427921
283 V>I No ClinGen
gnomAD
rs745632160
CA7999951
284 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA7999949
rs757458777
285 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA395546723
rs757458777
285 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754156022
CA7999948
287 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA280427879
rs932559546
288 D>G No ClinGen
Ensembl
rs777865019
CA395546537
289 P>S No ClinGen
ExAC
gnomAD
rs777865019
CA7999947
289 P>T No ClinGen
ExAC
gnomAD
rs752745032
CA7999945
291 V>I No ClinGen
ExAC
gnomAD
CA7999944
rs768100473
293 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1392987344
CA395546021
294 Y>C No ClinGen
gnomAD
CA395546003
rs1461734700
295 L>V No ClinGen
TOPMed
gnomAD
rs1170313086
CA395545936
297 P>R No ClinGen
gnomAD
rs201869632
CA7999916
298 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1171203765
CA395545856
299 V>M No ClinGen
TOPMed
CA395545776
rs1424977067
301 K>R No ClinGen
TOPMed
rs767081640
CA7999913
303 S>P No ClinGen
ExAC
gnomAD
rs759051329
CA7999912
305 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA395545567
rs1231024377
306 K>N No ClinGen
TOPMed
gnomAD
rs774218602
CA7999911
307 T>M No ClinGen
ExAC
gnomAD
rs1203577523
CA395545542
308 C>R No ClinGen
gnomAD
rs1203577523
CA395545543
308 C>S No ClinGen
gnomAD
rs1307290992
CA395545540
308 C>Y No ClinGen
TOPMed
rs958960976
CA280427492
309 V>A No ClinGen
Ensembl
rs141745734
CA7999908
312 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1596694979
CA395545372
314 L>V No ClinGen
Ensembl
CA7999906
rs770039657
315 N>D No ClinGen
ExAC
gnomAD
CA7999905
rs748379668
316 P>S No ClinGen
ExAC
gnomAD
CA7999904
rs199609144
317 E>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1003047711
CA280427380
320 E>K No ClinGen
TOPMed
gnomAD
rs943904014
CA280427243
321 E>D No ClinGen
Ensembl
rs1208650859
CA395544926
321 E>Q No ClinGen
gnomAD
CA395544879
rs1461718569
322 F>V No ClinGen
TOPMed
CA7999875
rs376856265
325 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7999874
rs374239439
COSM3706994
326 I>T liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA395544636
rs1209043928
328 L>F No ClinGen
gnomAD
rs750267367
CA7999872
328 L>R No ClinGen
ExAC
gnomAD
rs1328224563
CA395544597
330 T>A No ClinGen
TOPMed
CA7999871
rs765238797
331 L>V No ClinGen
ExAC
gnomAD
rs190387347
CA280427184
332 A>T No ClinGen
1000Genomes
gnomAD
rs1047619160
CA280427172
332 A>V No ClinGen
Ensembl
TCGA novel 333 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395544475
rs1162234115
334 K>N No ClinGen
gnomAD
rs888609715
CA280427162
337 E>G No ClinGen
TOPMed
CA395544395
rs1293139314
338 V>I No ClinGen
TOPMed
rs200796383
CA7999868
340 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1281201112
CA395544295
342 D>H No ClinGen
TOPMed
gnomAD
CA7999867
rs761033571
345 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA7999866
rs200732948
348 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395544149
rs1315131951
350 D>N No ClinGen
gnomAD
rs866898989
CA280427132
351 F>L No ClinGen
Ensembl
rs1368194142
CA395543966
354 G>S No ClinGen
gnomAD
rs370177489
CA7999845
355 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7999844
rs774531629
357 L>Q No ClinGen
ExAC
gnomAD
rs771408208
CA7999843
359 P>S No ClinGen
ExAC
rs868040487
CA280426859
360 G>D No ClinGen
gnomAD
CA395543852
rs1431191756
360 G>S No ClinGen
gnomAD
CA7999842
rs749855078
361 A>V No ClinGen
ExAC
gnomAD
rs1418218701
CA395543806
362 R>* No ClinGen
TOPMed
rs145044673
CA7999840
362 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395543790
rs1365377544
363 G>D No ClinGen
TOPMed
CA280426828
rs1020441474
363 G>S No ClinGen
Ensembl
CA7999837
rs779529166
364 E>A No ClinGen
ExAC
gnomAD
rs141323522
CA7999838
364 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7999836
rs758106842
365 A>G No ClinGen
ExAC
gnomAD
COSM1377315
CA7999834
rs373250621
366 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745345298
CA7999835
366 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA395543716
rs1413992319
368 H>R No ClinGen
gnomAD
rs757255333
CA7999833
369 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA395543661
rs1596693406
370 S>R No ClinGen
Ensembl
rs1032013453
CA280426760
370 S>T No ClinGen
TOPMed
gnomAD
rs753760872
CA7999832
371 D>G No ClinGen
ExAC
gnomAD
rs1392539984
CA395543614
373 L>M No ClinGen
TOPMed
rs1288366739
CA395543565
375 Q>* No ClinGen
gnomAD
CA7999829
rs147113011
376 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs34246709
CA7999828
RCV000899722
376 P>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs774283753
CA7999826
377 D>N No ClinGen
ExAC
gnomAD
CA7999824
rs763028825
378 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7999823
rs773655247
378 A>V No ClinGen
ExAC
TOPMed
rs1411340246
CA395543468
379 A>V No ClinGen
gnomAD
CA395543460
rs1160000509
380 L>Q No ClinGen
gnomAD
rs770312614
CA7999822
381 E>Q No ClinGen
ExAC
gnomAD
CA7999821
rs200262965
382 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372707859
CA7999820
382 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 384 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1206758211
CA395543347
386 L>M No ClinGen
gnomAD
CA7999819
rs771608798
387 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA7999818
rs745598816
388 S>N No ClinGen
ExAC
rs778711572
CA7999817
389 E>K No ClinGen
ExAC
gnomAD
rs1311596773
CA395543257
391 P>H No ClinGen
gnomAD
rs1332287408
CA395543265
391 P>S No ClinGen
gnomAD
CA7999816
RCV000949386
rs202062683
392 P>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA280426647
rs1023098414
392 P>L No ClinGen
TOPMed
gnomAD
CA395543244
rs202062683
392 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375622019
CA7999815
393 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1388512952
CA395543217
394 A>T No ClinGen
gnomAD
CA7999813
rs756118173
395 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1366756681
CA395543173
396 A>V No ClinGen
gnomAD
rs752413969
CA7999812
398 S>F No ClinGen
ExAC
gnomAD
rs1164353324
CA395543145
398 S>P No ClinGen
gnomAD
CA395543113
rs1415768204
399 S>L No ClinGen
TOPMed
gnomAD
CA7999811
rs201177833
400 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA7999810
rs755154600
401 A>G No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q14183

1 regional properties for Q14183

Type Name Position InterPro Accession
domain AP2/ERF domain 53 - 117 IPR001471

Functions

Description
EC Number
Subcellular Localization
  • Lysosome
  • Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Peripheral membrane protein
  • Synapse, synaptosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell junction A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
extrinsic component of synaptic vesicle membrane The component of the synaptic vesicle membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.

2 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
calcium-dependent phospholipid binding Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium.

6 GO annotations of biological process

Name Definition
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.
exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
regulation of calcium ion-dependent exocytosis Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis.
spontaneous neurotransmitter secretion Neurotransmitter secretion that occurs in the absence of the action of a secretagogue or a presynaptic action potential.
synaptic vesicle exocytosis Fusion of intracellular membrane-bounded vesicles with the pre-synaptic membrane of the neuronal cell resulting in release of neurotransmitter into the synaptic cleft.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q06846 RPH3A Rabphilin-3A Bos taurus (Bovine) PR
Q9Y2J0 RPH3A Rabphilin-3A Homo sapiens (Human) PR
P47708 Rph3a Rabphilin-3A Mus musculus (Mouse) PR
Q7TNF0 Doc2a Double C2-like domain-containing protein alpha Mus musculus (Mouse) PR
P47709 Rph3a Rabphilin-3A Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MRGRRGDRMT INIQEHMAIN VCPGPIRPIR QISDYFPRGP GPEGGGGGGG EAPAHLVPLA
70 80 90 100 110 120
LAPPAALLGA TTPEDGAEVD SYDSDDATAL GTLEFDLLYD RASCTLHCSI LRAKGLKPMD
130 140 150 160 170 180
FNGLADPYVK LHLLPGACKA NKLKTKTQRN TLNPVWNEDL TYSGITDDDI THKVLRIAVC
190 200 210 220 230 240
DEDKLSHNEF IGEIRVPLRR LKPSQKKHFN ICLERQVPLA SPSSMSAALR GISCYLKELE
250 260 270 280 290 300
QAEQGQGLLE ERGRILLSLS YSSRRRGLLV GILRCAHLAA MDVNGYSDPY VKTYLRPDVD
310 320 330 340 350 360
KKSKHKTCVK KKTLNPEFNE EFFYEIELST LATKTLEVTV WDYDIGKSND FIGGVSLGPG
370 380 390
ARGEARKHWS DCLQQPDAAL ERWHTLTSEL PPAAGALSSA