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

5 structures for P56182

Entry ID Method Resolution Chain Position Source
8FKP EM 285 A NO 1-461 PDB
8FKR EM 289 A NO 1-461 PDB
8FKT EM 281 A NO 1-461 PDB
8FKV EM 247 A NO 1-461 PDB
AF-P56182-F1 Predicted AlphaFoldDB

461 variants for P56182

Variant ID(s) Position Change Description Diseaes Association Provenance
CA058439
RCV000207187
rs763767114
114 R>C Ductal breast carcinoma [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1452399333
CA410400609
2 V>A No ClinGen
TOPMed
rs751693513
CA10048990
2 V>I No ClinGen
ExAC
gnomAD
rs867558058
CA321688114
3 S>* No ClinGen
Ensembl
CA410400645
rs1449005912
5 V>A No ClinGen
TOPMed
rs1375507678
CA410400639
5 V>M No ClinGen
gnomAD
rs1312463592
CA410400656
7 L>F No ClinGen
gnomAD
rs746135596
CA10048993
8 P>L No ClinGen
ExAC
gnomAD
CA410400675
rs1481499111
10 E>A No ClinGen
gnomAD
CA410400715
rs1199175403
12 Q>H No ClinGen
gnomAD
CA10048994
rs756401494
13 L>V No ClinGen
ExAC
gnomAD
rs866593435
CA321688128
15 Q>H No ClinGen
gnomAD
CA410400760
rs1195629456
16 R>C No ClinGen
gnomAD
rs1268176675
CA410400768
16 R>H No ClinGen
gnomAD
CA410400762
rs1195629456
16 R>S No ClinGen
gnomAD
rs1375084510
CA410400779
17 L>P No ClinGen
gnomAD
rs1421524683
CA410400785
18 A>P No ClinGen
TOPMed
CA10048996
rs749605541
19 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA10048998
rs774679026
20 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA410400823
rs1327278262
21 E>K No ClinGen
TOPMed
gnomAD
rs1367695860
CA410400829
21 E>V No ClinGen
gnomAD
CA410400839
rs770392911
22 Q>* No ClinGen
ExAC
gnomAD
CA10049000
rs770392911
22 Q>K No ClinGen
ExAC
gnomAD
rs530432421
CA10049001
22 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 23 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA410400851
rs1441139807
23 V>M No ClinGen
gnomAD
rs1014136422
CA321688163
25 R>Q No ClinGen
TOPMed
CA410400904
rs1286070892
27 R>Q No ClinGen
TOPMed
rs548567025
CA10049003
29 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1488206650
CA410400930
30 R>G No ClinGen
gnomAD
CA410400960
rs1314447706
32 L>F No ClinGen
TOPMed
CA10049005
rs762699166
33 R>Q No ClinGen
ExAC
gnomAD
CA410401002
rs1193462432
35 Y>C No ClinGen
gnomAD
rs1421965956
CA410401024
37 V>F No ClinGen
gnomAD
rs1166122146
CA410401037
38 A>S No ClinGen
TOPMed
gnomAD
rs1349942219
CA410401043
38 A>V No ClinGen
gnomAD
CA10049007
rs751501362
39 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1291398276
CA410401067
40 T>S No ClinGen
gnomAD
CA10049008
rs757206842
44 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA410401116
rs1235002051
45 G>S No ClinGen
gnomAD
rs114632703
CA10049023
48 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs114632703
CA10049024
48 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10049027
rs750490127
50 D>A No ClinGen
ExAC
CA321689527
rs987774479
50 D>N No ClinGen
TOPMed
gnomAD
rs1332910932
CA410401517
51 E>* No ClinGen
gnomAD
TCGA novel 51 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1332910932
CA410401515
51 E>Q No ClinGen
gnomAD
CA10049030
rs754160691
54 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10049029
rs766533429
54 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1200752656
CA410401665
62 C>* No ClinGen
TOPMed
gnomAD
CA10049032
rs779207686
63 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA10049033
rs753052026
63 M>R No ClinGen
ExAC
CA410401670
rs779207686
63 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs747485764
CA10049036
64 W>C No ClinGen
ExAC
gnomAD
CA10049034
rs758854546
64 W>G No ClinGen
ExAC
CA10049035
rs758854546
64 W>R No ClinGen
ExAC
CA10049041
rs774030035
65 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA10049039
rs779527474
65 M>K No ClinGen
ExAC
gnomAD
CA10049037
rs769345136
65 M>L No ClinGen
ExAC
TOPMed
CA10049038
rs779527474
65 M>R No ClinGen
ExAC
gnomAD
CA10049040
rs779527474
65 M>T No ClinGen
ExAC
gnomAD
CA410401715
rs761619063
66 Q>* No ClinGen
ExAC
gnomAD
rs761619063
CA10049042
66 Q>E No ClinGen
ExAC
gnomAD
rs773320493
CA10049046
66 Q>H No ClinGen
ExAC
CA10049043
rs761619063
66 Q>K No ClinGen
ExAC
gnomAD
CA10049044
rs1555889809
66 Q>R No ClinGen
Ensembl
rs201407956
CA10049048
CA10049049
67 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA10049047
rs760664822
67 D>N No ClinGen
ExAC
gnomAD
CA410401739
rs1168462993
68 K>E No ClinGen
gnomAD
rs897169803
CA321689634
68 K>R No ClinGen
TOPMed
gnomAD
CA10049051
rs765454845
71 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs771995948
CA10049080
73 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs771995948
CA410402356
73 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA10049081
rs747889574
74 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs747889574
CA10049082
74 E>Q No ClinGen
ExAC
gnomAD
CA321690563
rs1054970949
76 G>A No ClinGen
TOPMed
gnomAD
rs777710952
CA410402432
77 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs777710952
CA10049083
77 R>M No ClinGen
ExAC
TOPMed
gnomAD
CA10049085
rs771027384
79 I>V No ClinGen
ExAC
gnomAD
CA410402505
rs1356423002
81 Q>H No ClinGen
gnomAD
CA10049087
rs776753739
83 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA10049086
rs776753739
83 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1016534662
CA321690570
84 H>N No ClinGen
TOPMed
gnomAD
rs769976627
CA10049088
85 A>G No ClinGen
ExAC
rs763243729
CA10049090
87 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA10049089
rs371605643
87 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764243391
CA10049091
88 T>N No ClinGen
ExAC
gnomAD
rs1260163120
CA410402654
89 T>A No ClinGen
gnomAD
rs531306920
CA10049092
89 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10049094
rs767836326
90 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10049095
rs750986561
91 A>G No ClinGen
ExAC
gnomAD
CA10049123
rs779817474
93 H>N No ClinGen
ExAC
gnomAD
CA10049124
CA410402906
rs114296196
93 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA410402894
rs779817474
93 H>Y No ClinGen
ExAC
gnomAD
CA410402910
rs1294914791
94 L>V No ClinGen
TOPMed
gnomAD
CA410402950
rs1390937041
97 Q>E No ClinGen
gnomAD
CA10049125
rs768772947
97 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA410402970
rs1281100546
98 A>D No ClinGen
gnomAD
rs746930949
CA321690964
99 F>S No ClinGen
Ensembl
rs1219145935
CA410403005
100 W>C No ClinGen
TOPMed
gnomAD
CA410403052
CA321690973
rs546860126
103 M>I No ClinGen
1000Genomes
TOPMed
rs1050893842
CA321690968
103 M>V No ClinGen
gnomAD
CA10049127
rs748434339
105 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs768764518
CA321690999
105 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA321691027
rs982540625
106 E>D No ClinGen
TOPMed
rs369505824
CA10049129
106 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760895439
CA10049130
108 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA410403128
rs1478379410
109 G>S No ClinGen
gnomAD
CA10049134
rs751047987
114 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs761572987
CA10049135
117 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 118 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA410403267
rs1423556649
118 F>L No ClinGen
gnomAD
rs1300965054
CA410403292
120 M>L No ClinGen
gnomAD
CA410403294
rs1394833264
120 M>T No ClinGen
Ensembl
CA410403290
rs1300965054
120 M>V No ClinGen
gnomAD
CA10049162
rs777897637
121 L>P No ClinGen
ExAC
gnomAD
CA410403705
rs757437914
122 M>L No ClinGen
ExAC
gnomAD
rs781700913
CA10049165
122 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA10049164
rs757437914
122 M>V No ClinGen
ExAC
gnomAD
CA10049167
COSM1264612
rs374122140
123 R>Q oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA10049166
rs746186788
123 R>W No ClinGen
ExAC
gnomAD
rs1333405815
CA410403742
124 M>I No ClinGen
gnomAD
rs776181908
CA10049168
124 M>T No ClinGen
ExAC
gnomAD
rs749788511
CA321692577
CA410403791
127 N>K No ClinGen
ExAC
gnomAD
rs1377776608
CA410403784
127 N>S No ClinGen
gnomAD
rs772774157
CA10049171
128 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA10049170
rs367993051
128 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA410403797
rs367993051
128 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1296244309
CA410403846
131 K>E No ClinGen
TOPMed
rs1463391171
CA410403855
132 V>F No ClinGen
TOPMed
CA410403860
rs1262925976
133 L>V No ClinGen
gnomAD
rs1469328784
CA410403878
135 M>I No ClinGen
TOPMed
rs1321949178
CA410403877
135 M>T No ClinGen
TOPMed
gnomAD
rs1397880153
CA410403874
135 M>V No ClinGen
TOPMed
gnomAD
rs760248566
CA10049172
136 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1259373530
CA410403902
137 G>V No ClinGen
gnomAD
rs1601868779
CA410403944
139 E>D No ClinGen
Ensembl
rs765996018
CA10049173
140 E>A No ClinGen
ExAC
gnomAD
rs1178797749
CA410403966
141 R>G No ClinGen
TOPMed
CA10049221
rs750460535
144 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs766658198
CA10049223
148 E>K No ClinGen
ExAC
gnomAD
rs754182732
CA10049224
150 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA321693839
rs775222458
153 E>K No ClinGen
Ensembl
rs753301682
CA10049227
154 I>V No ClinGen
ExAC
gnomAD
CA410404667
rs1601870611
156 H>P No ClinGen
Ensembl
rs758838830
CA10049228
157 P>R No ClinGen
ExAC
gnomAD
rs1306464918
CA410404699
157 P>S No ClinGen
Ensembl
rs1569015298
CA410404759
159 S>I No ClinGen
Ensembl
rs745338361
CA10049230
159 S>R No ClinGen
ExAC
gnomAD
CA410404818
rs1378731628
161 A>V No ClinGen
gnomAD
rs1363557520
CA410404860
162 P>R No ClinGen
gnomAD
CA10049234
rs768554861
163 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA10049236
rs748099910
164 G>D No ClinGen
ExAC
gnomAD
rs1469744469
CA410404895
164 G>S No ClinGen
gnomAD
rs1448504124
CA410404919
165 V>M No ClinGen
TOPMed
gnomAD
rs1439091704
CA410404981
167 S>N No ClinGen
TOPMed
rs891234992
CA410405118
172 I>M No ClinGen
gnomAD
rs766335419
CA10049240
172 I>T No ClinGen
ExAC
gnomAD
CA10049239
rs760793666
172 I>V No ClinGen
ExAC
gnomAD
CA410405271
rs1569015365
180 V>A No ClinGen
Ensembl
TCGA novel 181 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1438604202
CA410405289
181 G>V No ClinGen
TOPMed
rs988228931
CA321693938
182 A>T No ClinGen
TOPMed
gnomAD
rs1569015375
CA410405304
182 A>V No ClinGen
Ensembl
rs758930459
CA10049245
183 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10049246
rs764549852
184 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA10049247
rs752030642
184 E>D No ClinGen
ExAC
gnomAD
CA321693944
rs1018295414
184 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA410405394
rs1460106035
185 L>F No ClinGen
gnomAD
rs778389533
CA10049271
185 L>H No ClinGen
ExAC
TOPMed
gnomAD
rs140646060
CA410405411
186 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10049272
rs140646060
186 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10049275
rs747008262
190 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs781358683
CA10049277
192 K>N No ClinGen
ExAC
gnomAD
rs34224504
CA10049279
194 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs34224504
CA10049278
VAR_053894
194 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1359155313
CA410405549
195 D>G No ClinGen
gnomAD
rs371737632
CA10049281
195 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371737632
COSM1264610
CA10049282
195 D>N Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774633179
CA10049283
198 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA321694092
rs751552058
199 R>G No ClinGen
gnomAD
rs1486454584
CA410405609
199 R>I No ClinGen
gnomAD
CA410405607
rs1486454584
199 R>T No ClinGen
gnomAD
rs2838378
CA410405622
200 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10049284
rs376009014
200 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753419754
CA10049286
201 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs753419754
CA410405623
201 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs753419754
CA10049287
COSM1031184
201 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1418904506
CA410405631
202 A>V No ClinGen
TOPMed
rs372422903
CA410405633
203 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10049289
rs752452177
203 R>Q No ClinGen
ExAC
gnomAD
rs372422903
CA10049288
203 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758116144
CA10049290
204 T>A No ClinGen
ExAC
gnomAD
CA410405682
rs551764515
209 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs551764515
CA10049311
209 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10049313
rs201870763
211 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10049314
rs755980170
212 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA410405746
rs1405558946
214 T>I No ClinGen
gnomAD
TCGA novel 214 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780122512
CA10049315
215 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771526495
CA10049316
215 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA410405781
rs1468357301
217 I>M No ClinGen
gnomAD
CA10049317
rs755223651
217 I>V No ClinGen
ExAC
gnomAD
rs373040342
CA10049318
220 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202035823
CA10049320
221 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs773617935
CA10049321
225 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs773617935
CA410405906
225 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs747472096
CA10049322
225 A>V No ClinGen
ExAC
gnomAD
rs1353860457
COSM444551
CA410405930
226 P>L Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA410405922
rs1252943107
226 P>S No ClinGen
TOPMed
gnomAD
CA410405976
rs1415824343
229 I>T No ClinGen
TOPMed
rs762594727
CA10049325
229 I>V No ClinGen
ExAC
rs1322196689
CA410406017
231 D>G No ClinGen
gnomAD
rs763679263
CA10049326
232 L>I No ClinGen
ExAC
gnomAD
rs763679263
CA10049327
232 L>V No ClinGen
ExAC
gnomAD
rs1287666272
CA410406114
237 D>E No ClinGen
TOPMed
CA410406105
rs1360420851
237 D>G No ClinGen
TOPMed
rs761522934
CA10049328
239 Q>R No ClinGen
ExAC
gnomAD
rs767222092
CA10049329
241 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs951064307
CA321694397
241 E>K No ClinGen
TOPMed
CA410406185
rs1230938888
242 E>Q No ClinGen
gnomAD
CA10049330
rs750177255
242 E>V No ClinGen
ExAC
gnomAD
CA410406204
rs1477384765
243 V>G No ClinGen
TOPMed
rs200537007
CA10049331
243 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1428445931
CA410406210
244 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs753741244
CA10049334
245 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA10049336
rs371358839
246 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10049337
rs748385452
247 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs758578096
CA10049338
247 S>I No ClinGen
ExAC
gnomAD
CA10049340
CA10049339
rs567553240
248 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770351031
CA321694423
248 D>G No ClinGen
gnomAD
CA10049341
rs771393239
249 E>D No ClinGen
ExAC
gnomAD
rs777328464
CA10049342
250 S>F No ClinGen
ExAC
gnomAD
CA410406250
rs1271381543
251 S>C No ClinGen
gnomAD
CA410406246
rs1295397988
251 S>P No ClinGen
TOPMed
CA410406260
rs201857663
253 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201857663
CA10049343
253 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10049345
rs201075773
254 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1361309654
CA410406269
254 G>V No ClinGen
gnomAD
CA410406270
rs1222870470
255 E>K No ClinGen
TOPMed
gnomAD
CA10049346
rs200937759
256 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200937759
CA10049347
256 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772909448
CA10049348
256 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs772909448
CA10049349
256 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs753827154
CA10049351
258 D>G No ClinGen
ExAC
gnomAD
rs766136307
CA10049350
258 D>N No ClinGen
ExAC
gnomAD
rs753827154
CA10049352
258 D>V No ClinGen
ExAC
gnomAD
rs752763619
CA10049354
259 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs771599434
CA10049355
259 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs912847502
CA321694470
261 S>F No ClinGen
Ensembl
rs1163293124
CA410406307
262 Q>* No ClinGen
gnomAD
rs1402925216
CA410406311
262 Q>H No ClinGen
gnomAD
rs751810835
CA10049357
262 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA321694488
rs200385471
265 S>P No ClinGen
1000Genomes
gnomAD
TCGA novel 266 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326500428
CA410406342
267 K>E No ClinGen
gnomAD
CA410406349
rs1429484844
268 P>A No ClinGen
gnomAD
CA10049358
RCV000964089
rs58028593
268 P>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10049359
rs58028593
268 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10049361
rs770281078
269 P>H No ClinGen
ExAC
TOPMed
rs770281078
CA410406355
269 P>L No ClinGen
ExAC
TOPMed
CA410406354
rs1601871499
269 P>S No ClinGen
Ensembl
rs201622848
CA10049364
270 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10049363
rs201622848
COSM1264611
270 A>T oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs117749073
CA10049365
270 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs974733824
CA321698312
273 I>T No ClinGen
TOPMed
gnomAD
CA410406804
rs1222915966
274 C>Y No ClinGen
TOPMed
gnomAD
rs1481714467
CA410406822
277 E>K No ClinGen
gnomAD
rs1481714467
CA410406823
277 E>Q No ClinGen
gnomAD
rs1370054478
CA410406841
279 E>V No ClinGen
TOPMed
CA410406848
rs1250225900
280 A>G No ClinGen
gnomAD
rs544862341
CA10049394
281 G>D No ClinGen
1000Genomes
ExAC
gnomAD
CA10049396
rs750644934
285 A>T No ClinGen
ExAC
gnomAD
CA410406887
rs1480400593
286 G>D No ClinGen
gnomAD
CA10049399
rs754431651
288 D>E No ClinGen
ExAC
gnomAD
rs766636330
CA10049398
288 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10049402
rs746471903
293 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10049404
rs563106945
294 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs756932112
CA10049403
294 P>S No ClinGen
ExAC
gnomAD
CA10049406
rs769697557
295 V>I No ClinGen
ExAC
gnomAD
rs772341923
CA10049432
299 D>N No ClinGen
ExAC
gnomAD
CA10049434
rs188937098
301 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1454278025
CA410407007
301 E>V No ClinGen
gnomAD
CA10049436
rs777083793
303 V>F No ClinGen
ExAC
gnomAD
CA410407016
rs777083793
303 V>I No ClinGen
ExAC
gnomAD
rs990118066
CA321699003
304 A>G No ClinGen
TOPMed
gnomAD
CA410407036
rs879065863
306 R>I No ClinGen
TOPMed
gnomAD
rs879065863
CA410407037
306 R>K No ClinGen
TOPMed
gnomAD
CA321699007
rs879065863
306 R>T No ClinGen
TOPMed
gnomAD
rs1555890841
CA10049437
307 L>M No ClinGen
Ensembl
CA321699033
rs914593381
308 F>C No ClinGen
TOPMed
CA321699036
rs111865363
309 E>D No ClinGen
TOPMed
gnomAD
CA410407055
rs1318004786
309 E>G No ClinGen
gnomAD
CA10049440
rs765573835
310 M>I No ClinGen
ExAC
gnomAD
CA410407059
rs1266907610
310 M>V No ClinGen
gnomAD
rs753271460
CA10049441
311 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs753271460
CA410407066
311 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs373245016
CA10049442
313 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA410407081
rs1482729417
313 R>H No ClinGen
TOPMed
gnomAD
rs749855846
CA10049444
314 Q>P No ClinGen
ExAC
gnomAD
rs755826699
CA10049445
315 S>N No ClinGen
ExAC
gnomAD
CA10049447
rs753509960
316 T>A No ClinGen
ExAC
gnomAD
rs754874509
CA410407101
316 T>I No ClinGen
ExAC
gnomAD
CA10049448
rs754874509
316 T>S No ClinGen
ExAC
gnomAD
rs1337485584
CA410407102
317 P>T No ClinGen
gnomAD
rs201861906
CA10049449
318 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs897562846
CA321699089
318 S>P No ClinGen
Ensembl
CA410407119
rs1283767444
319 Q>H No ClinGen
TOPMed
rs200706235
COSM1031185
CA10049451
323 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200154081
CA10049452
323 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10049453
rs200154081
323 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1601873755
CA410407158
325 Y>C No ClinGen
Ensembl
CA10049455
rs776765535
326 K>E No ClinGen
ExAC
gnomAD
CA10049456
rs915770
VAR_053895
326 K>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA321699117
rs1007775548
328 I>V No ClinGen
gnomAD
rs1311204232
CA410407180
329 R>Q No ClinGen
gnomAD
CA10049457
rs376330937
COSM444552
329 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 330 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA410407236
rs1269672252
336 G>R No ClinGen
TOPMed
rs1333240205
CA410407257
337 G>V No ClinGen
gnomAD
CA10049518
rs748501232
340 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA410407280
rs1444291128
341 E>K No ClinGen
TOPMed
gnomAD
rs772291941
CA10049519
342 D>G No ClinGen
ExAC
gnomAD
CA410407288
rs1288980387
342 D>N No ClinGen
gnomAD
rs778472440
CA10049520
344 I>T No ClinGen
ExAC
gnomAD
rs1345917120
CA410407323
347 K>Q No ClinGen
gnomAD
rs541555584
CA10049523
348 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10049526
rs768315459
351 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA410407352
rs768315459
351 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10049527
rs559589580
351 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767289804
CA10049529
354 E>G No ClinGen
ExAC
gnomAD
CA410407379
rs1364579576
356 R>G No ClinGen
TOPMed
CA10049530
rs200137494
357 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766457415
CA10049534
358 Q>H No ClinGen
ExAC
gnomAD
rs147437710
CA10049535
360 K>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA321700291
rs914649766
361 T>M No ClinGen
Ensembl
CA410407420
rs1601875356
362 K>T No ClinGen
Ensembl
CA10049539
rs752838989
363 K>N No ClinGen
ExAC
gnomAD
CA10049538
rs779233018
363 K>Q No ClinGen
ExAC
gnomAD
CA410407432
rs531133686
364 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA410407436
rs1218891604
364 Q>H No ClinGen
TOPMed
CA10049540
rs531133686
364 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745680911
CA10049542
365 K>N No ClinGen
ExAC
gnomAD
rs200910420
CA10049541
365 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10049543
rs771516121
366 R>C No ClinGen
ExAC
gnomAD
rs772094375
CA10049544
366 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1202278717
CA410407457
368 L>P No ClinGen
gnomAD
rs1268838161
CA410407459
369 R>G No ClinGen
gnomAD
CA410407463
rs1208351864
369 R>S No ClinGen
TOPMed
rs748871129
CA10049545
369 R>T No ClinGen
ExAC
gnomAD
rs201873899
CA10049546
370 L>W No ClinGen
ExAC
TOPMed
gnomAD
CA410407487
rs1375497757
373 E>K No ClinGen
gnomAD
TCGA novel 376 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368644724
CA10049590
376 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs61737065
CA10049591
377 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1278822137
CA410407560
381 P>A No ClinGen
TOPMed
gnomAD
CA410407563
rs1311260260
381 P>L No ClinGen
gnomAD
rs1278822137
CA410407561
381 P>S No ClinGen
TOPMed
gnomAD
rs1207712854
CA410407566
382 P>A No ClinGen
gnomAD
rs563040118
CA10049592
382 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs530647149
CA10049594
384 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs530647149
CA410407586
384 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA321700949
rs113833203
384 P>S No ClinGen
gnomAD
CA321700946
rs113833203
384 P>T No ClinGen
gnomAD
rs1160289315
CA410407598
385 G>D No ClinGen
TOPMed
rs1424642773
CA410407619
386 M>I No ClinGen
TOPMed
gnomAD
CA10049596
rs762063455
386 M>L No ClinGen
ExAC
gnomAD
CA321700964
rs767943393
387 E>* No ClinGen
ExAC
gnomAD
CA10049597
rs767943393
387 E>K No ClinGen
ExAC
gnomAD
rs1170851769
CA410407642
388 R>G No ClinGen
gnomAD
CA10049598
rs750707803
389 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA10049599
rs756672405
390 R>T No ClinGen
ExAC
gnomAD
rs766831586
CA10049600
391 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1352137672
CA410407694
391 S>R No ClinGen
gnomAD
rs1475248321
CA410407711
392 R>S No ClinGen
TOPMed
rs754318876
CA10049601
393 R>K No ClinGen
ExAC
gnomAD
CA410407739
rs1274962807
394 R>S No ClinGen
gnomAD
rs1366414497
CA410407761
396 V>I No ClinGen
TOPMed
gnomAD
rs1601876588
CA410407809
399 D>A No ClinGen
Ensembl
rs1342688869
CA410407811
399 D>E No ClinGen
gnomAD
rs1299503115
CA410407798
399 D>N No ClinGen
TOPMed
gnomAD
CA321700989
rs374983239
401 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10049603
rs374983239
401 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10049605
rs756802588
402 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs917493659
CA410407857
403 R>G No ClinGen
gnomAD
CA321701000
rs371352025
403 R>Q No ClinGen
ESP
TOPMed
gnomAD
COSM1161409
rs917493659
CA321700996
403 R>W haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
CA410407889
rs1167107922
405 E>D No ClinGen
gnomAD
CA410407879
rs1449184773
405 E>Q No ClinGen
gnomAD
CA321701003
rs1044545656
406 A>G No ClinGen
TOPMed
gnomAD
CA410407899
rs1044545656
406 A>V No ClinGen
TOPMed
gnomAD
rs1348830908
CA410407960
410 P>R No ClinGen
gnomAD
rs1323616286
CA410407950
410 P>S No ClinGen
gnomAD
rs769611441
CA410407969
411 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1167480277
CA410407962
411 G>S No ClinGen
gnomAD
rs769611441
CA10049608
411 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA321701012
rs749405960
412 T>A No ClinGen
Ensembl
rs374647783
CA10049609
412 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771099338
CA321701018
413 A>G No ClinGen
gnomAD
CA410407984
rs1365487257
413 A>T No ClinGen
gnomAD
rs771099338
CA410407993
413 A>V No ClinGen
gnomAD
CA321701022
rs1029595130
414 E>* No ClinGen
TOPMed
gnomAD
CA410407996
rs1029595130
414 E>K No ClinGen
TOPMed
gnomAD
CA10049610
rs749236769
415 R>G No ClinGen
ExAC
gnomAD
rs1436172220
CA410408016
415 R>Q No ClinGen
TOPMed
CA410408014
rs749236769
415 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA410408022
rs1289237217
416 A>T No ClinGen
gnomAD
CA321701026
rs774571978
416 A>V No ClinGen
TOPMed
gnomAD
CA410408034
rs889315095
417 L>V No ClinGen
TOPMed
gnomAD
CA321701032
rs759815874
418 L>H No ClinGen
TOPMed
gnomAD
rs61737064
CA10049612
419 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372893290
CA321701035
419 R>Q No ClinGen
ESP
TOPMed
gnomAD
rs1239634477
CA410408057
420 D>N No ClinGen
gnomAD
rs1239634477
CA410408061
420 D>Y No ClinGen
gnomAD
CA10049613
rs762121219
421 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA10049614
rs772142270
422 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1459360360
CA410408095
423 R>K No ClinGen
gnomAD
TCGA novel 423 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA321701055
rs957955295
425 R>C No ClinGen
TOPMed
gnomAD
CA10049615
rs375793237
COSM1031186
425 R>H endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA410408108
rs375793237
425 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA410408110
rs1315925827
426 G>S No ClinGen
gnomAD
CA410408125
rs1283469182
427 Q>R No ClinGen
gnomAD
CA410408135
rs1353492753
428 R>K No ClinGen
gnomAD
rs1457264068
CA410408165
430 A>V No ClinGen
TOPMed
CA10049617
rs766713616
431 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs754408625
CA10049618
431 R>H No ClinGen
ExAC
gnomAD
rs1281158458
CA410408186
432 Q>R No ClinGen
gnomAD
rs953802167
CA321701073
434 R>G No ClinGen
TOPMed
gnomAD
rs1255940180
CA410408225
435 R>K No ClinGen
TOPMed
gnomAD
rs1255940180
CA410408229
435 R>M No ClinGen
TOPMed
gnomAD
CA410408244
rs1473875036
437 P>S No ClinGen
gnomAD
CA410408257
rs763607317
438 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs763607317
CA10049622
438 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10049621
rs759967067
438 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA410408267
rs1442230822
440 L>V No ClinGen
TOPMed
CA410408282
rs1403925942
441 T>N No ClinGen
gnomAD
rs1032713187
CA321701082
443 A>D No ClinGen
TOPMed
gnomAD
rs1032713187
CA410408311
443 A>V No ClinGen
TOPMed
gnomAD
rs751020820
CA10049623
444 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs751020820
CA321701089
444 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA410408319
rs1353437225
444 R>Q No ClinGen
gnomAD
TCGA novel 447 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10049624
rs756760981
447 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs780757767
CA10049625
448 A>T No ClinGen
ExAC
gnomAD
rs775964722
CA321701109
449 N>D No ClinGen
TOPMed
rs1350018917
CA410408384
449 N>S No ClinGen
TOPMed
gnomAD
CA410408398
rs1276769452
450 V>I No ClinGen
gnomAD
CA410408416
rs1345980727
451 Q>R No ClinGen
gnomAD
rs755930249
CA10049627
453 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs749255086
CA10049629
453 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs755930249
CA10049628
453 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1206552467
CA410408471
454 E>D No ClinGen
gnomAD
CA10049633
rs546622210
456 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1376681932
CA410408516
457 K>Q No ClinGen
TOPMed
rs868547959
CA410408550
459 R>C No ClinGen
TOPMed
gnomAD
rs578093450
CA10049635
COSM1240107
459 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs578093450
CA10049634
459 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA321701134
rs868547959
459 R>S No ClinGen
TOPMed
gnomAD
CA10049637
rs760945245
461 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1376916644
CA410408574
462 E>C No ClinGen
TOPMed

No associated diseases with P56182

No regional properties for P56182

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P56182

Functions

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

5 GO annotations of cellular component

Name Definition
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
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.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
preribosome, large subunit precursor A preribosomal complex consisting of 27SA, 27SB, and/or 7S pre-rRNA, 5S rRNA, ribosomal proteins including late-associating large subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic large ribosomal subunit.
preribosome, small subunit precursor A preribosomal complex consisting of 20S pre-rRNA, ribosomal proteins including late-associating small subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic small ribosomal subunit.

1 GO annotations of molecular function

Name Definition
RNA binding Binding to an RNA molecule or a portion thereof.

1 GO annotations of biological process

Name Definition
rRNA processing Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P56183 Rrp1 Ribosomal RNA processing protein 1 homolog A Mus musculus (Mouse) PR
Q18674 rrp-1 Ribosomal RNA processing protein 1 homolog Caenorhabditis elegans PR
10 20 30 40 50 60
MVSRVQLPPE IQLAQRLAGN EQVTRDRAVR KLRKYIVART QRAAGGFTHD ELLKVWKGLF
70 80 90 100 110 120
YCMWMQDKPL LQEELGRTIS QLVHAFQTTE AQHLFLQAFW QTMNREWTGI DRLRLDKFYM
130 140 150 160 170 180
LMRMVLNESL KVLKMQGWEE RQIEELLELL MTEILHPSSQ APNGVKSHFI EIFLEELTKV
190 200 210 220 230 240
GAEELTADQN LKFIDPFCRI AARTKDSLVL NNITRGIFET IVEQAPLAIE DLLNELDTQD
250 260 270 280 290 300
EEVASDSDES SEGGERGDAL SQKRSEKPPA GSICRAEPEA GEEQAGDDRD SGGPVLQFDY
310 320 330 340 350 360
EAVANRLFEM ASRQSTPSQN RKRLYKVIRK LQDLAGGIFP EDEIPEKACR RLLEGRRQKK
370 380 390 400 410 420
TKKQKRLLRL QQERGKGEKE PPSPGMERKR SRRRGVGADP EARAEAGEQP GTAERALLRD
430 440 450 460
QPRGRGQRGA RQRRRTPRPL TSARAKAANV QEPEKKKKRR E