Descriptions

MAPK1 encodes Mitogen-activated protein kinase 1, and is involved in diverse cellular responses by phosphorylating cytoplasmic and nuclear proteins. Unlike other MAP kinases, MAPK1 activates via dual phosphorylation of Thr-186 and Tyr-193 within the activation lip, and mutations at Q105 alone were sufficient for autoactivation. Additionally, in the inactive form, L76, Q10 and I87 form a structural unit that restrains intramolecular autophosphorylation by preventing interactions between activation lip residues and the catalytic base (D149) needed for phosphoryl transfer. Mutations at L76, I87 and additionally S153 increased basal specific activity via autophosphorylation of Thr-186 and Tyr-193.

Autoinhibitory domains (AIDs)

Target domain

20-312 (Protein kinase domain)

Relief mechanism

PTM

Assay

Accessory elements

167-193 (Activation loop from InterPro)

Target domain

20-312 (Protein kinase domain)

Relief mechanism

Assay

167-193 (Activation loop from InterPro)

Target domain

20-312 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for P31152

Entry ID Method Resolution Chain Position Source
AF-P31152-F1 Predicted AlphaFoldDB

506 variants for P31152

Variant ID(s) Position Change Description Diseaes Association Provenance
COSM473900
CA402510890
rs1309062743
2 A>T kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA8964217
rs749775353
3 E>G No ClinGen
ExAC
gnomAD
rs572593041
CA8964219
5 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8964220
rs748473611
6 D>A No ClinGen
ExAC
gnomAD
CA402510933
rs1406034662
8 I>T No ClinGen
TOPMed
CA8964221
rs772545058
8 I>V No ClinGen
ExAC
gnomAD
rs541638701
CA8964223
10 S>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1042753382
CA300449525
10 S>I No ClinGen
TOPMed
gnomAD
rs1042753382
CA300449524
10 S>N No ClinGen
TOPMed
gnomAD
CA402510943
rs541638701
10 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1402455259
CA402510965
13 G>E No ClinGen
gnomAD
rs1265554205
CA402510963
13 G>R No ClinGen
Ensembl
CA402510967
rs1402455259
13 G>V No ClinGen
gnomAD
rs765272318
CA8964227
15 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs759503690
CA8964226
15 D>N No ClinGen
ExAC
gnomAD
rs34207571
CA8964230
17 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374524649
CA8964229
17 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA402510992
rs1237683118
18 G>R No ClinGen
gnomAD
rs750579920
CA8964231
19 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8964232
rs536389282
19 R>H No ClinGen
ExAC
gnomAD
TCGA novel 22 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs959869255
CA300449526
27 G>D No ClinGen
TOPMed
rs755417970
CA8964235
29 G>S No ClinGen
ExAC
gnomAD
rs1158452814
CA402511072
30 V>A No ClinGen
gnomAD
CA8964236
rs779378577
30 V>I No ClinGen
ExAC
gnomAD
CA402511078
rs1289362577
31 N>S No ClinGen
TOPMed
CA402511091
rs1422015306
33 L>S No ClinGen
gnomAD
rs748756367
CA8964237
34 V>M No ClinGen
ExAC
gnomAD
rs772293615
CA8964239
36 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1598884005
CA402511118
38 V>G No ClinGen
Ensembl
CA402511116
rs3752087
38 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8964242
rs3752087
VAR_042254
38 V>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8964243
rs770735277
39 D>E No ClinGen
ExAC
gnomAD
rs199879399
CA8964245
41 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8964244
rs776211637
41 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA402511142
rs1224428573
42 A>V No ClinGen
gnomAD
rs775288765
CA8964247
43 C>Y No ClinGen
ExAC
gnomAD
CA8964248
rs762992386
44 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA300449528
rs920644770
44 R>W No ClinGen
TOPMed
gnomAD
CA402511168
rs1598884079
46 V>G No ClinGen
Ensembl
CA8964250
rs367684848
47 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1191684708
CA402511172
47 A>V No ClinGen
TOPMed
CA8964251
rs760849669
48 V>L No ClinGen
ExAC
gnomAD
rs760849669
CA402511174
48 V>M No ClinGen
ExAC
gnomAD
TCGA novel 49 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8964252
rs532114080
50 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs140972647
CA8964253
52 A>D No ClinGen
ExAC
gnomAD
rs140972647
CA300449529
52 A>V No ClinGen
ExAC
gnomAD
CA8964256
rs61747609
55 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8964258
rs565759866
56 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA402511225
rs1378385642
56 A>S No ClinGen
gnomAD
rs369990219
CA8964259
57 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373566179
CA8964260
57 R>H Variant assessed as Somatic; 0.0001864 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1229998825
CA402511235
58 S>G No ClinGen
gnomAD
CA300449531
rs559455057
58 S>I No ClinGen
Ensembl
rs1370440592
CA402511262
61 H>R No ClinGen
TOPMed
rs1204026862
CA402511268
62 A>T No ClinGen
gnomAD
rs745586840
CA8964262
62 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8964264
COSM4153985
rs372835108
64 R>* kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762751290
CA8964265
64 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1445721545
CA402511299
67 K>R No ClinGen
gnomAD
rs1176611427
CA402511314
69 I>S No ClinGen
TOPMed
CA8964266
rs768671292
69 I>V No ClinGen
ExAC
gnomAD
rs761581511
CA402511318
70 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs761581511
CA8964268
70 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8964267
rs200603915
70 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8964269
rs767365680
71 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754028426
CA8964270
71 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754028426
CA402511321
71 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA402511349
rs1360934897
75 D>E No ClinGen
gnomAD
CA8964273
rs752849769
75 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758762362
CA402511357
76 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1259782608
CA402511355
COSM709396
76 N>S lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA8964276
rs764672737
78 V>I Variant assessed as Somatic; 4.662e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8964277
rs752066432
79 K>R No ClinGen
ExAC
gnomAD
rs1040441186
CA300449536
80 V>L No ClinGen
TOPMed
gnomAD
rs757694990
CA8964278
81 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA402511384
rs1262531603
81 Y>H No ClinGen
gnomAD
rs755853041
CA8964281
82 E>D No ClinGen
ExAC
gnomAD
CA402511390
COSM1719459
rs745497107
82 E>K NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8964280
rs745497107
82 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA300449537
rs905689204
83 V>L No ClinGen
TOPMed
rs779393411
CA8964282
84 L>P No ClinGen
ExAC
gnomAD
CA402511408
rs1474431030
85 G>C No ClinGen
TOPMed
gnomAD
rs1479229970
CA402511409
85 G>D No ClinGen
gnomAD
rs1474431030
CA402511406
85 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1352655359
CA402511434
89 T>A No ClinGen
TOPMed
rs774339790
CA8964285
90 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA402511452
rs1315697641
92 Q>* No ClinGen
gnomAD
rs1027949763
CA300449538
93 G>S No ClinGen
TOPMed
rs1294730849
CA402511473
95 L>Q No ClinGen
gnomAD
CA300449540
rs950749935
96 F>L No ClinGen
TOPMed
gnomAD
CA402511490
rs1299763767
97 K>N No ClinGen
gnomAD
rs886982579
CA300449541
99 S>C No ClinGen
gnomAD
rs886982579
CA402511500
99 S>G No ClinGen
gnomAD
COSM438188
rs199714690
CA8964288
100 V>M Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs556250636
CA8964289
101 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1598884577
CA402511524
103 I>L No ClinGen
Ensembl
COSM563769
CA8964292
rs763078166
104 V>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1484460760
CA402511540
105 Q>R No ClinGen
TOPMed
CA402511548
rs1265734803
106 E>G No ClinGen
gnomAD
rs1205047488
CA402511564
108 M>T No ClinGen
TOPMed
rs757891465
CA8964295
109 E>K No ClinGen
ExAC
gnomAD
rs1243889116
CA402511585
111 D>G No ClinGen
TOPMed
CA8964297
rs200812352
111 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8964298
rs755657525
112 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8964299
rs186595195
114 R>C Variant assessed as Somatic; 4.723e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs541494122
CA8964300
114 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs541494122
CA402511602
114 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 116 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA300449544
rs906983934
119 G>D No ClinGen
TOPMed
gnomAD
CA8964303
rs376833028
120 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1350074631
CA402511662
124 E>G No ClinGen
gnomAD
rs777398945
CA8964306
127 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA402511705
rs1268558083
130 M>I No ClinGen
gnomAD
rs775778917
CA8964308
130 M>V No ClinGen
ExAC
gnomAD
rs990376602
CA300449545
132 Q>K No ClinGen
Ensembl
rs1452931608
CA402511728
134 L>I No ClinGen
gnomAD
rs375617264
CA8964310
135 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8964312
rs762370225
136 G>R No ClinGen
ExAC
CA300449546
rs895465186
138 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1419067905
CA402511767
140 I>N No ClinGen
gnomAD
rs761093842
CA8964315
140 I>V No ClinGen
ExAC
gnomAD
CA8964316
rs766691554
142 S>F No ClinGen
ExAC
gnomAD
CA402511785
COSM1725117
rs754605852
143 A>S liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8964318
rs754605852
143 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752206576
CA8964321
145 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1166485386
CA402511843
152 P>T No ClinGen
gnomAD
rs201642307
CA8964322
153 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371208782
CA300449549
155 I>M No ClinGen
ESP
gnomAD
rs777672526
CA8964323
155 I>V No ClinGen
ExAC
gnomAD
rs1271844815
CA402511902
160 E>G No ClinGen
gnomAD
CA402511909
rs770730467
161 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA8964325
rs770730467
161 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA402511919
rs376363938
163 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8964327
rs376363938
163 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1188194409
CA402511924
164 L>I No ClinGen
gnomAD
rs375005333
CA8964329
167 G>E No ClinGen
ESP
ExAC
CA8964331
rs772337922
170 G>R No ClinGen
ExAC
gnomAD
CA300449550
rs909222744
171 L>S No ClinGen
Ensembl
CA8964334
rs766712842
175 V>A No ClinGen
ExAC
gnomAD
CA8964333
rs761132815
175 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA402512026
rs1197869642
179 Y>H No ClinGen
TOPMed
CA402512033
rs1268146326
180 S>T No ClinGen
TOPMed
rs942036831
CA300449551
181 H>L No ClinGen
Ensembl
rs1230173093
CA402512039
181 H>N No ClinGen
gnomAD
rs759161909
CA8964336
182 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1484980462
CA402512049
182 K>R No ClinGen
TOPMed
rs762644192
CA8964359
184 Y>C No ClinGen
ExAC
gnomAD
CA402443258
rs763546618
188 G>A No ClinGen
ExAC
gnomAD
CA8964361
rs763546618
188 G>E No ClinGen
ExAC
gnomAD
CA8964360
rs763546618
188 G>V No ClinGen
ExAC
gnomAD
CA402443265
rs1379475152
189 L>F No ClinGen
gnomAD
CA402443259
rs1176842081
189 L>M No ClinGen
gnomAD
rs1192529503
CA402443275
191 T>K No ClinGen
gnomAD
rs1300064098
CA402443279
192 K>E No ClinGen
TOPMed
CA402443282
rs1395594119
192 K>R No ClinGen
gnomAD
rs757155966
CA8964362
194 Y>* No ClinGen
ExAC
gnomAD
rs532503517
CA8964363
195 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs750434954
CA8964364
195 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8964368
rs758722448
198 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA300035691
rs758722448
198 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs777838970
CA8964369
198 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs747073199
CA8964370
202 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs747073199
CA8964371
202 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8964372
rs776998927
203 P>L No ClinGen
ExAC
gnomAD
rs374923849
CA8964373
204 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8964374
rs374923849
204 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA402443411
rs1355834781
207 T>S No ClinGen
gnomAD
rs775856107
CA8964375
209 A>P No ClinGen
ExAC
gnomAD
rs926401405
CA300035730
211 D>N No ClinGen
gnomAD
TCGA novel 211 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368403152
CA8964378
212 M>I No ClinGen
ESP
ExAC
gnomAD
rs773858770
CA8964380
215 A>T No ClinGen
ExAC
gnomAD
CA8964382
rs767125390
216 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA402443525
rs1342845897
217 C>R No ClinGen
TOPMed
TCGA novel 220 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201585776
CA8964384
COSM215742
224 T>M central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 227 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 229 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1598947380
CA402443672
229 F>S No ClinGen
Ensembl
CA300041154
rs865958659
231 G>E No ClinGen
Ensembl
rs927271474
CA300041178
232 A>S No ClinGen
TOPMed
rs1598956986
CA402445254
232 A>V No ClinGen
Ensembl
CA300041182
rs751114736
233 H>Q No ClinGen
TOPMed
gnomAD
CA402445272
rs1229809789
234 E>K No ClinGen
TOPMed
gnomAD
CA402445295
rs1194333980
236 E>K No ClinGen
TOPMed
rs1316264789
CA402445344
CA402445340
238 M>I No ClinGen
TOPMed
gnomAD
CA402445391
rs1258743379
242 L>P No ClinGen
gnomAD
rs1459157933
CA402445409
243 E>D No ClinGen
gnomAD
CA8964402
rs554696722
247 V>I No ClinGen
ExAC
gnomAD
CA402445476
rs1183929480
248 I>S No ClinGen
TOPMed
gnomAD
CA402445474
rs1183929480
248 I>T No ClinGen
TOPMed
gnomAD
CA8964404
rs369281315
249 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375703786
CA8964403
249 R>W No ClinGen
ESP
ExAC
gnomAD
CA8964405
rs753884087
250 E>K No ClinGen
ExAC
gnomAD
CA8964406
rs759399423
251 E>D No ClinGen
ExAC
gnomAD
rs751707902
CA8964409
254 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs765118542
CA8964407
254 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs267605202
CA300041263
255 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8964410
rs781093343
257 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA402445596
rs781093343
257 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs750506974
CA8964411
258 R>K No ClinGen
ExAC
gnomAD
rs1005469240
CA300041274
260 M>T No ClinGen
TOPMed
gnomAD
TCGA novel 262 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8964413
rs780530095
263 F>S No ClinGen
ExAC
gnomAD
rs1040505157
CA300041293
264 V>I No ClinGen
TOPMed
gnomAD
CA300041299
rs561889001
266 S>C No ClinGen
1000Genomes
CA402445714
rs1278052081
267 T>A No ClinGen
gnomAD
CA402445721
rs1473394621
267 T>I No ClinGen
TOPMed
CA402445724
rs1370302548
268 W>R No ClinGen
TOPMed
CA402445756
rs1598957311
270 V>G No ClinGen
Ensembl
CA300041301
rs144944694
271 K>R No ClinGen
Ensembl
CA8964414
rs749864708
272 R>K No ClinGen
ExAC
gnomAD
CA8964415
rs768874032
275 R>C Variant assessed as Somatic; 0.0001398 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8964416
rs779386468
275 R>H Variant assessed as Somatic; 4.659e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8964417
rs747712489
276 K>T No ClinGen
ExAC
gnomAD
CA402445842
rs1568098065
279 P>L No ClinGen
Ensembl
CA8964419
rs200724420
283 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA402446113
rs1350754149
286 I>V No ClinGen
gnomAD
CA402446120
rs1289895947
287 D>N No ClinGen
gnomAD
rs777563467
CA8964436
287 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1376773153
CA402446142
290 E>G No ClinGen
TOPMed
gnomAD
CA402446150
rs371938450
291 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371938450
CA8964438
291 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374522930
CA8964439
293 L>M No ClinGen
ESP
ExAC
gnomAD
rs762228429
CA300044287
297 P>A No ClinGen
TOPMed
gnomAD
rs762228429
CA402446188
297 P>S No ClinGen
TOPMed
gnomAD
rs762228429
CA402446187
297 P>T No ClinGen
TOPMed
gnomAD
CA300044295
rs267605203
300 R>C Variant assessed as Somatic; 0.0002319 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1196170573
CA402446213
300 R>H No ClinGen
gnomAD
rs769776274
CA8964441
305 M>T No ClinGen
ExAC
gnomAD
rs745753582
CA8964440
305 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA402446276
rs1180443921
310 P>H No ClinGen
gnomAD
rs1180443921
CA402446278
310 P>L No ClinGen
gnomAD
rs775090015
CA8964442
312 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA402446288
rs1333933438
312 M>V No ClinGen
TOPMed
rs183692158
CA8964445
317 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753916970
CA8964448
321 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs755379765
CA8964449
326 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA402446430
rs1407432002
327 P>L No ClinGen
TOPMed
rs1357972254
CA402446438
328 F>S No ClinGen
gnomAD
rs753210882
CA8964451
329 R>C No ClinGen
ExAC
gnomAD
CA402446444
rs753210882
329 R>G No ClinGen
ExAC
gnomAD
rs758758015
CA8964452
329 R>H No ClinGen
ExAC
gnomAD
rs1158475696
CA402446515
335 D>A No ClinGen
TOPMed
CA402446517
rs371446025
335 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs201688372
CA8964453
335 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757002674
CA8964455
336 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8964456
rs780784133
338 V>A No ClinGen
ExAC
gnomAD
rs1023559689
CA402446543
338 V>L No ClinGen
TOPMed
gnomAD
CA300044449
COSM1734644
rs1023559689
338 V>M Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA8964457
rs199859025
340 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8964459
rs775496825
342 A>T No ClinGen
ExAC
gnomAD
CA8964460
rs749227781
COSM1523762
345 S>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA402446637
rs768420694
CA8964461
346 Q>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 349 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368928539
CA300044490
349 N>T No ClinGen
ESP
TOPMed
rs1277174119
CA402446680
350 W>C No ClinGen
gnomAD
rs1240720505
CA402446691
351 D>E No ClinGen
TOPMed
rs776771680
CA8964465
352 T>A No ClinGen
ExAC
gnomAD
rs186466272
CA8964466
352 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs186466272
CA300044513
352 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758995326
CA8964469
353 C>R No ClinGen
ExAC
gnomAD
rs376409655
CA300044556
354 S>C No ClinGen
TOPMed
CA402446729
rs1343755237
355 S>Y No ClinGen
TOPMed
rs963266480
CA300047310
358 P>A No ClinGen
gnomAD
rs963266480
CA402446943
358 P>T No ClinGen
gnomAD
CA300047311
rs751428718
359 V>L No ClinGen
gnomAD
rs750072736
CA8964492
360 S>N No ClinGen
ExAC
gnomAD
CA402446963
rs1386835561
360 S>R No ClinGen
gnomAD
rs755747467
CA8964493
361 L>P No ClinGen
ExAC
gnomAD
rs1426858848
COSM1480365
CA402446980
363 S>L Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA402446993
rs1309636778
365 L>R No ClinGen
gnomAD
rs1263887552
CA402447013
368 R>Q No ClinGen
gnomAD
COSM988880
CA402447012
rs774005634
368 R>W Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs753357393
CA8964495
370 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8964497
rs3752089
VAR_042255
371 R>P No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA8964498
rs3752089
371 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8964496
rs754538065
371 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8964500
rs777450496
372 C>W No ClinGen
ExAC
gnomAD
CA8964499
rs771831359
372 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1381237624
CA402447039
373 Q>* No ClinGen
gnomAD
CA300047361
rs554214382
375 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA402447070
rs1223603219
377 E>G No ClinGen
TOPMed
TCGA novel 377 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769911478
CA8964502
378 V>I No ClinGen
ExAC
gnomAD
CA402447083
rs775584394
379 Q>L No ClinGen
ExAC
gnomAD
CA8964503
rs775584394
379 Q>R No ClinGen
ExAC
gnomAD
rs532854587
CA8964504
380 R>G No ClinGen
1000Genomes
ExAC
gnomAD
rs768923919
CA8964505
380 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA402447103
rs1331946854
382 P>L No ClinGen
gnomAD
CA402447102
rs1331946854
382 P>R No ClinGen
gnomAD
rs1226375797
CA402447110
384 A>T No ClinGen
gnomAD
CA402447118
rs1321306497
385 G>C No ClinGen
gnomAD
TCGA novel 388 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760312632
CA402447170
393 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs760312632
CA8964511
393 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs750789115
CA8964510
393 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA402447196
rs753551722
397 P>L No ClinGen
ExAC
gnomAD
rs753551722
CA8964513
397 P>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764772500
COSM189595
CA8964515
398 R>C Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8964516
rs752580397
398 R>H No ClinGen
ExAC
gnomAD
CA402447201
rs752580397
398 R>L No ClinGen
ExAC
gnomAD
CA8964518
rs777557048
400 D>N No ClinGen
ExAC
gnomAD
CA402447214
rs1343672832
400 D>V No ClinGen
TOPMed
rs755536587
CA8964522
402 H>Y No ClinGen
ExAC
gnomAD
CA300047505
rs199532611
403 S>C No ClinGen
Ensembl
rs780137571
CA8964523
404 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA8964524
rs546684210
405 S>A No ClinGen
1000Genomes
ExAC
gnomAD
CA8964525
rs546684210
405 S>P No ClinGen
1000Genomes
ExAC
gnomAD
CA8964527
rs559848519
406 E>G No ClinGen
1000Genomes
ExAC
gnomAD
CA402447248
rs774597846
406 E>K No ClinGen
ExAC
gnomAD
CA8964526
rs774597846
406 E>Q No ClinGen
ExAC
gnomAD
CA8964528
rs772465108
407 R>C No ClinGen
ExAC
gnomAD
rs935581904
CA300047619
407 R>L No ClinGen
Ensembl
CA402447277
rs1208651431
410 E>D No ClinGen
gnomAD
CA402447271
rs1408840127
410 E>K No ClinGen
gnomAD
CA402447285
rs1480106782
411 Q>H No ClinGen
TOPMed
CA8964529
rs773824081
412 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA402447291
rs773824081
412 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA8964531
rs766804571
413 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA402447300
rs1241191743
414 S>P No ClinGen
TOPMed
rs1477320598
CA402447305
415 S>T No ClinGen
gnomAD
CA402447321
rs1270486766
416 M>I No ClinGen
TOPMed
rs528858237
CA402447315
416 M>L No ClinGen
1000Genomes
gnomAD
CA8964533
rs759208387
416 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs528858237
CA300047636
416 M>V No ClinGen
1000Genomes
gnomAD
CA8964534
rs764684614
418 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1359730408
CA402447344
418 R>H No ClinGen
gnomAD
rs758297008
CA8964536
419 A>G No ClinGen
ExAC
gnomAD
CA402447350
rs1296157254
419 A>T No ClinGen
gnomAD
rs1399649402
CA402447361
420 F>V No ClinGen
gnomAD
rs763925644
CA8964537
423 D>N No ClinGen
ExAC
gnomAD
rs1217606297
CA402447412
424 Y>C No ClinGen
gnomAD
rs751581034
CA8964538
424 Y>H No ClinGen
ExAC
gnomAD
CA8964540
rs781183183
425 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1284356652
CA402447430
426 R>C No ClinGen
gnomAD
TCGA novel 426 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 427 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 427 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755284302
CA8964542
429 D>N No ClinGen
ExAC
gnomAD
CA402447491
rs1190195622
431 K>R No ClinGen
gnomAD
CA300047694
rs867298401
434 S>L No ClinGen
TOPMed
gnomAD
rs747597763
CA8964547
436 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs201371342
CA402447578
CA8964548
439 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777010622
CA300047720
440 K>N No ClinGen
ExAC
gnomAD
CA402447587
rs1347244750
440 K>R No ClinGen
gnomAD
CA402447627
rs1406765113
444 R>H No ClinGen
TOPMed
rs764881429
CA8964551
445 D>G No ClinGen
ExAC
gnomAD
rs867334063
CA300047726
445 D>N No ClinGen
Ensembl
CA8964552
rs202060655
446 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1285906945
CA402447658
447 K>R No ClinGen
gnomAD
CA8964553
rs371041289
448 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA300047770
rs371041289
448 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA402447672
rs371041289
448 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8964554
rs763702680
449 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA300047771
rs1045622449
449 H>Y No ClinGen
TOPMed
CA300047791
rs867616899
CA300047782
450 H>Q No ClinGen
TOPMed
gnomAD
CA402447689
rs1469729608
450 H>Y No ClinGen
gnomAD
TCGA novel 451 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1461115239
CA402447706
451 Y>C No ClinGen
TOPMed
CA300047818
rs751431559
452 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs751431559
CA8964555
452 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA402447717
rs751431559
452 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA8964557
rs767382743
455 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA402447791
CA402447789
rs1403838720
459 D>E No ClinGen
TOPMed
gnomAD
rs887662159
CA300047827
459 D>H No ClinGen
TOPMed
CA300047834
rs867304442
463 W>* No ClinGen
Ensembl
CA402447848
rs1313128780
465 Q>* No ClinGen
TOPMed
rs1451691594
CA402447858
465 Q>H No ClinGen
TOPMed
CA402447854
rs1286170217
465 Q>R No ClinGen
Ensembl
rs1443679870
CA402447868
COSM4131008
466 A>E thyroid [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1395319571
CA402447862
466 A>T No ClinGen
TOPMed
gnomAD
rs1443679870
CA402447871
466 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs779269473
CA402447902
469 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs779269473
CA8964560
469 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8964561
rs752999098
470 P>H No ClinGen
ExAC
gnomAD
CA402447909
rs752999098
470 P>L No ClinGen
ExAC
gnomAD
CA300047880
rs1006217417
470 P>S No ClinGen
TOPMed
gnomAD
CA8964562
rs566180692
471 P>H No ClinGen
ExAC
gnomAD
rs1273189801
CA402447915
471 P>S No ClinGen
TOPMed
gnomAD
CA8964563
rs777927956
472 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs1438377046
CA402447930
473 A>S No ClinGen
gnomAD
CA8964564
rs747432926
473 A>V No ClinGen
ExAC
gnomAD
CA300047957
rs539499065
475 G>E No ClinGen
1000Genomes
rs1347123605
CA402447966
477 A>P No ClinGen
gnomAD
rs1463072484
CA402447985
478 D>A No ClinGen
TOPMed
gnomAD
CA402447983
rs1418921128
478 D>N No ClinGen
gnomAD
CA402448000
rs1030394148
479 T>K No ClinGen
TOPMed
gnomAD
TCGA novel 479 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1030394148
CA300047985
479 T>R No ClinGen
TOPMed
gnomAD
CA402448019
rs1383783696
481 A>G No ClinGen
TOPMed
CA402448027
rs1392499285
482 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1331242961
CA402448037
483 E>K No ClinGen
gnomAD
TCGA novel 485 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746218319
CA8964567
485 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs746218319
CA402448059
485 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA300048025
rs867565788
487 A>D No ClinGen
Ensembl
rs775093065
CA8964569
489 L>P No ClinGen
ExAC
gnomAD
rs1568102986
CA402448120
490 F>L No ClinGen
Ensembl
rs1216233572
CA402448160
493 I>T No ClinGen
gnomAD
CA402448166
rs1256899214
494 A>T No ClinGen
gnomAD
rs1339951700
CA402448173
494 A>V No ClinGen
gnomAD
CA402448224
rs1276173026
499 S>G No ClinGen
gnomAD
rs866384416
CA300048036
502 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1273519953
CA402448274
503 G>A No ClinGen
Ensembl
rs1394810630
CA402448289
505 E>Q No ClinGen
gnomAD
rs1258451369
CA402448303
506 H>D No ClinGen
TOPMed
gnomAD
rs866724311
CA300048043
506 H>Q No ClinGen
TOPMed
CA402448304
rs1258451369
506 H>Y No ClinGen
TOPMed
gnomAD
rs1191534606
CA402448328
507 A>V No ClinGen
gnomAD
rs1372606225
CA402448335
508 S>N No ClinGen
TOPMed
gnomAD
rs1372606225
CA402448337
508 S>T No ClinGen
TOPMed
gnomAD
rs989851014
CA300048046
509 P>Q No ClinGen
TOPMed
gnomAD
CA402448344
rs1462882733
509 P>S No ClinGen
TOPMed
gnomAD
CA402448361
rs1316044113
510 P>L No ClinGen
TOPMed
TCGA novel 510 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762718061
CA8964570
511 A>T No ClinGen
ExAC
TOPMed
rs1313926250
CA402448370
511 A>V No ClinGen
gnomAD
rs1377257004
CA402448374
512 D>N No ClinGen
gnomAD
rs1397786363
CA402448384
513 D>N No ClinGen
gnomAD
CA8964572
rs573296530
515 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1370111019
CA402448428
517 R>G No ClinGen
TOPMed
gnomAD
CA8964573
rs761591123
517 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA402448427
rs1370111019
517 R>S No ClinGen
TOPMed
gnomAD
CA402448459
rs1344271289
520 A>P No ClinGen
gnomAD
CA8964575
rs750446711
521 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA8964576
rs555824518
521 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs555824518
CA402448472
521 S>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8964577
rs766321769
522 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA300048089
rs766321769
522 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA402448475
rs766321769
522 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA402448496
rs1429181689
523 P>H No ClinGen
TOPMed
gnomAD
rs1429181689
CA402448500
523 P>L No ClinGen
TOPMed
gnomAD
rs1261055141
CA402448483
523 P>S No ClinGen
gnomAD
rs758675898
CA300048096
524 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1282228187 524 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs758675898
CA8964579
524 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA402448507
rs1454241979
524 G>V No ClinGen
gnomAD
CA402448511
rs1223625736
525 R>C No ClinGen
TOPMed
CA402448510
rs1223625736
525 R>G No ClinGen
TOPMed
CA402448512
rs796234051
525 R>H No ClinGen
gnomAD
rs796234051
CA300048103
525 R>L No ClinGen
gnomAD
CA402448519
rs1417419801
526 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA402448518
rs1417419801
526 P>R No ClinGen
gnomAD
CA402448520
rs1385306374
527 A>T No ClinGen
gnomAD
rs751670980
CA8964582
527 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8964583
rs757385194
528 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA402448531
rs757385194
528 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 530 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1305269217
CA402448558
531 G>C No ClinGen
TOPMed
gnomAD
rs1305269217
CA402448554
531 G>S No ClinGen
TOPMed
gnomAD
rs746414624
CA8964585
534 S>N No ClinGen
ExAC
rs889167744
CA300048141
535 P>R No ClinGen
TOPMed
gnomAD
CA402448598
rs1459139621
535 P>T No ClinGen
TOPMed
rs1265400798
COSM1214514
CA402448627
538 D>N large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1194819991
CA402448649
540 D>H No ClinGen
gnomAD
rs1438220005
CA402448659
541 V>L No ClinGen
TOPMed
gnomAD
CA402448658
rs1438220005
541 V>M No ClinGen
TOPMed
gnomAD
CA8964588
rs748855629
543 I>L No ClinGen
ExAC
gnomAD
rs745838538
CA300048174
543 I>S No ClinGen
Ensembl
rs768362441
CA8964589
544 S>P No ClinGen
ExAC
gnomAD
rs1428180163
CA402448697
545 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA402448705
rs1291247724
546 A>T No ClinGen
gnomAD
CA402448711
rs1400535293
546 A>V No ClinGen
gnomAD
rs761397895
CA8964591
548 K>E No ClinGen
ExAC
gnomAD
rs1441472742
CA402448729
548 K>N No ClinGen
gnomAD
rs368327562
CA8964592
549 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA402448742
rs1374656534
550 C>R No ClinGen
gnomAD
rs773258325
CA8964593
552 K>T No ClinGen
ExAC
gnomAD
rs1241461518
CA402448797
554 E>D No ClinGen
gnomAD
COSM1214515
rs766233770
CA8964595
554 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA402448788
rs766233770
554 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA402448806
rs958306924
555 D>G No ClinGen
TOPMed
gnomAD
CA300048210
rs958306924
555 D>V No ClinGen
TOPMed
gnomAD
CA300048215
rs575979411
556 L>V No ClinGen
1000Genomes
TOPMed
TCGA novel 557 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1255410504
CA402448838
558 D>G No ClinGen
gnomAD
rs1456861829
CA402448865
560 K>T No ClinGen
gnomAD
CA402448885
rs1176934968
562 G>D No ClinGen
gnomAD
rs1437770365
CA402448883
562 G>R No ClinGen
TOPMed
rs757297774
CA8964600
563 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA300048237
rs757297774
563 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM988881
CA8964601
rs767633456
567 A>V endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA402448956
rs1389410185
569 I>V No ClinGen
TOPMed
gnomAD
CA402448970
rs1166513447
570 P>S No ClinGen
gnomAD
CA402448966
rs1166513447
570 P>T No ClinGen
gnomAD
CA402448995
rs780218522
573 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs749679166
CA8964605
573 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA8964604
rs780218522
573 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8964606
rs755359327
574 G>D No ClinGen
ExAC
gnomAD
rs1242360778
CA402448998
574 G>R No ClinGen
TOPMed
CA8964607
rs778627157
575 D>N No ClinGen
ExAC
gnomAD
rs747847970
CA8964608
575 D>V No ClinGen
ExAC
gnomAD
rs1444105911
CA402449009
576 L>I No ClinGen
TOPMed
CA8964610
rs202116209
577 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA300048312
rs202116209
577 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1194759675
CA402449035
580 E>K No ClinGen
TOPMed
CA402449046
rs1275151343
581 A>V No ClinGen
gnomAD
rs1306226522
CA402449065
584 K>R No ClinGen
gnomAD
CA300048325
rs7506742
585 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1276345326
CA402449082
586 R>S No ClinGen
TOPMed
CA402449091
rs1243385988
587 W>C No ClinGen
TOPMed
rs1204444978
CA402449084
587 W>R No ClinGen
gnomAD
rs746873598 588 W>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with P31152

3 regional properties for P31152

Type Name Position InterPro Accession
domain Protein kinase domain 26 - 321 IPR000719
conserved_site Mitogen-activated protein (MAP) kinase, conserved site 61 - 163 IPR003527
active_site Serine/threonine-protein kinase, active site 147 - 159 IPR008271

Functions

Description
EC Number 2.7.11.- Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Translocates to the cytoplasm following interaction with MAPKAPK5
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.

7 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
MAP kinase activity Catalysis of the reaction
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity Binding to an identical protein to form a homodimer.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine kinase activity Catalysis of the reactions
protein serine/threonine kinase activity Catalysis of the reactions

3 GO annotations of biological process

Name Definition
cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
protein phosphorylation The process of introducing a phosphate group on to a protein.

92 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P16892 FUS3 Mitogen-activated protein kinase FUS3 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) SS
P14681 KSS1 Mitogen-activated protein kinase KSS1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) SS
A5PKJ4 MAPK7 Mitogen-activated protein kinase 7 Bos taurus (Bovine) SS
Q3T0N5 MAPK13 Mitogen-activated protein kinase 13 Bos taurus (Bovine) SS
P46196 MAPK1 Mitogen-activated protein kinase 1 Bos taurus (Bovine) SS
Q5F3W3 MAPK6 Mitogen-activated protein kinase 6 Gallus gallus (Chicken) SS
Q95NE7 MAPK14 Mitogen-activated protein kinase 14 Pan troglodytes (Chimpanzee) SS
Q9N272 MAPK13 Mitogen-activated protein kinase 13 Pan troglodytes (Chimpanzee) SS
Q9W354 Erk7 Extracellular signal-regulated kinase 7 Drosophila melanogaster (Fruit fly) SS
O61443 p38b Mitogen-activated protein kinase p38b Drosophila melanogaster (Fruit fly) SS
O62618 p38a Mitogen-activated protein kinase p38a Drosophila melanogaster (Fruit fly) SS
P83100 p38c Putative mitogen-activated protein kinase 14C Drosophila melanogaster (Fruit fly) SS
P40417 rl Mitogen-activated protein kinase ERK-A Drosophila melanogaster (Fruit fly) SS
Q16659 MAPK6 Mitogen-activated protein kinase 6 Homo sapiens (Human) SS
P20794 MAK Serine/threonine-protein kinase MAK Homo sapiens (Human) PR
Q9UQ07 MOK MAPK/MAK/MRK overlapping kinase Homo sapiens (Human) PR
Q8TD08 MAPK15 Mitogen-activated protein kinase 15 Homo sapiens (Human) SS
P45984 MAPK9 Mitogen-activated protein kinase 9 Homo sapiens (Human) SS
P45983 MAPK8 Mitogen-activated protein kinase 8 Homo sapiens (Human) EV
P53779 MAPK10 Mitogen-activated protein kinase 10 Homo sapiens (Human) EV
Q9UBE8 NLK Serine/threonine-protein kinase NLK Homo sapiens (Human) SS
P27361 MAPK3 Mitogen-activated protein kinase 3 Homo sapiens (Human) SS
P28482 MAPK1 Mitogen-activated protein kinase 1 Homo sapiens (Human) EV
Q13164 MAPK7 Mitogen-activated protein kinase 7 Homo sapiens (Human) SS
P53778 MAPK12 Mitogen-activated protein kinase 12 Homo sapiens (Human) SS
O15264 MAPK13 Mitogen-activated protein kinase 13 Homo sapiens (Human) SS
Q15759 MAPK11 Mitogen-activated protein kinase 11 Homo sapiens (Human) SS
Q16539 MAPK14 Mitogen-activated protein kinase 14 Homo sapiens (Human) SS
Q9Z1B7 Mapk13 Mitogen-activated protein kinase 13 Mus musculus (Mouse) SS
P47811 Mapk14 Mitogen-activated protein kinase 14 Mus musculus (Mouse) SS
Q63844 Mapk3 Mitogen-activated protein kinase 3 Mus musculus (Mouse) SS
P63085 Mapk1 Mitogen-activated protein kinase 1 Mus musculus (Mouse) SS
Q9WVS8 Mapk7 Mitogen-activated protein kinase 7 Mus musculus (Mouse) SS
Q9WUI1 Mapk11 Mitogen-activated protein kinase 11 Mus musculus (Mouse) SS
O08911 Mapk12 Mitogen-activated protein kinase 12 Mus musculus (Mouse) SS
Q80Y86 Mapk15 Mitogen-activated protein kinase 15 Mus musculus (Mouse) SS
Q61532 Mapk6 Mitogen-activated protein kinase 6 Mus musculus (Mouse) SS
Q6P5G0 Mapk4 Mitogen-activated protein kinase 4 Mus musculus (Mouse) SS
P70618 Mapk14 Mitogen-activated protein kinase 14 Rattus norvegicus (Rat) SS
Q9WTY9 Mapk13 Mitogen-activated protein kinase 13 Rattus norvegicus (Rat) SS
P63086 Mapk1 Mitogen-activated protein kinase 1 Rattus norvegicus (Rat) SS
Q9Z2A6 Mapk15 Mitogen-activated protein kinase 15 Rattus norvegicus (Rat) SS
P21708 Mapk3 Mitogen-activated protein kinase 3 Rattus norvegicus (Rat) SS
Q63538 Mapk12 Mitogen-activated protein kinase 12 Rattus norvegicus (Rat) SS
P0C865 Mapk7 Mitogen-activated protein kinase 7 Rattus norvegicus (Rat) SS
P27704 Mapk6 Mitogen-activated protein kinase 6 Rattus norvegicus (Rat) SS
Q63454 Mapk4 Mitogen-activated protein kinase 4 Rattus norvegicus (Rat) SS
Q5ZCI1 MPK10 Mitogen-activated protein kinase 10 Oryza sativa subsp. japonica (Rice) SS
Q5VP69 MPK16 Mitogen-activated protein kinase 16 Oryza sativa subsp. japonica (Rice) SS
Q5SN53 MPK8 Mitogen-activated protein kinase 8 Oryza sativa subsp. japonica (Rice) SS
Q0E459 MPK13 Mitogen-activated protein kinase 13 Oryza sativa subsp. japonica (Rice) SS
Q6Z437 MPK3 Mitogen-activated protein kinase 3 Oryza sativa subsp. japonica (Rice) SS
Q75KK8 MPK14 Mitogen-activated protein kinase 14 Oryza sativa subsp. japonica (Rice) SS
Q67C40 MPK7 Mitogen-activated protein kinase 7 Oryza sativa subsp. japonica (Rice) SS
Q6L5F7 MPK17 Mitogen-activated protein kinase 17 Oryza sativa subsp. japonica (Rice) SS
Q5VN19 MPK11 Mitogen-activated protein kinase 11 Oryza sativa subsp. japonica (Rice) SS
Q5Z859 MPK4 Mitogen-activated protein kinase 4 Oryza sativa subsp. japonica (Rice) SS
Q5Z9J0 MPK12 Mitogen-activated protein kinase 12 Oryza sativa subsp. japonica (Rice) SS
Q53N72 MPK15 Mitogen-activated protein kinase 15 Oryza sativa subsp. japonica (Rice) SS
Q336X9 MPK6 Mitogen-activated protein kinase 6 Oryza sativa subsp. japonica (Rice) SS
Q5J4W4 MPK2 Mitogen-activated protein kinase 2 Oryza sativa subsp. japonica (Rice) SS
Q84UI5 MPK1 Mitogen-activated protein kinase 1 Oryza sativa subsp. japonica (Rice) SS
Q10N20 MPK5 Mitogen-activated protein kinase 5 Oryza sativa subsp. japonica (Rice) SS
Q17446 pmk-1 Mitogen-activated protein kinase pmk-1 Caenorhabditis elegans SS
Q11179 mapk-15 Mitogen-activated protein kinase 15 Caenorhabditis elegans SS
Q8MXI4 pmk-2 Mitogen-activated protein kinase pmk-2 Caenorhabditis elegans SS
O44514 pmk-3 Mitogen-activated protein kinase pmk-3 Caenorhabditis elegans PR
G5EBT1 sma-5 Mitogen-activated protein kinase sma-5 Caenorhabditis elegans SS
P39745 mpk-1 Mitogen-activated protein kinase mpk-1 Caenorhabditis elegans SS
Q39021 MPK1 Mitogen-activated protein kinase 1 Arabidopsis thaliana (Mouse-ear cress) SS
Q9LM33 MPK8 Mitogen-activated protein kinase 8 Arabidopsis thaliana (Mouse-ear cress) SS
Q9C5C0 MPK18 Mitogen-activated protein kinase 18 Arabidopsis thaliana (Mouse-ear cress) SS
Q39022 MPK2 Mitogen-activated protein kinase 2 Arabidopsis thaliana (Mouse-ear cress) SS
Q9C9U4 MPK15 Mitogen-activated protein kinase 15 Arabidopsis thaliana (Mouse-ear cress) SS
Q84M93 MPK17 Mitogen-activated protein kinase 17 Arabidopsis thaliana (Mouse-ear cress) SS
Q39027 MPK7 Mitogen-activated protein kinase 7 Arabidopsis thaliana (Mouse-ear cress) SS
Q9SJG9 MPK20 Mitogen-activated protein kinase 20 Arabidopsis thaliana (Mouse-ear cress) SS
Q9LUC3 MPK19 Mitogen-activated protein kinase 19 Arabidopsis thaliana (Mouse-ear cress) SS
Q9LV37 MPK9 Mitogen-activated protein kinase 9 Arabidopsis thaliana (Mouse-ear cress) SS
O23236 MPK14 Mitogen-activated protein kinase 14 Arabidopsis thaliana (Mouse-ear cress) SS
Q8W4J2 MPK16 Mitogen-activated protein kinase 16 Arabidopsis thaliana (Mouse-ear cress) SS
Q39023 MPK3 Mitogen-activated protein kinase 3 Arabidopsis thaliana (Mouse-ear cress) SS
Q39024 MPK4 Mitogen-activated protein kinase 4 Arabidopsis thaliana (Mouse-ear cress) SS
Q39025 MPK5 Mitogen-activated protein kinase 5 Arabidopsis thaliana (Mouse-ear cress) SS
Q39026 MPK6 Mitogen-activated protein kinase 6 Arabidopsis thaliana (Mouse-ear cress) SS
Q9M1Z5 MPK10 Mitogen-activated protein kinase 10 Arabidopsis thaliana (Mouse-ear cress) SS
Q8GYQ5 MPK12 Mitogen-activated protein kinase 12 Arabidopsis thaliana (Mouse-ear cress) SS
Q9LMM5 MPK11 Mitogen-activated protein kinase 11 Arabidopsis thaliana (Mouse-ear cress) SS
Q9LQQ9 MPK13 Mitogen-activated protein kinase 13 Arabidopsis thaliana (Mouse-ear cress) SS
O42376 mapk12 Mitogen-activated protein kinase 12 Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q9DGE1 mapk14b Mitogen-activated protein kinase 14B Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q9DGE2 mapk14a Mitogen-activated protein kinase 14A Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MAEKGDCIAS VYGYDLGGRF VDFQPLGFGV NGLVLSAVDS RACRKVAVKK IALSDARSMK
70 80 90 100 110 120
HALREIKIIR RLDHDNIVKV YEVLGPKGTD LQGELFKFSV AYIVQEYMET DLARLLEQGT
130 140 150 160 170 180
LAEEHAKLFM YQLLRGLKYI HSANVLHRDL KPANIFISTE DLVLKIGDFG LARIVDQHYS
190 200 210 220 230 240
HKGYLSEGLV TKWYRSPRLL LSPNNYTKAI DMWAAGCILA EMLTGRMLFA GAHELEQMQL
250 260 270 280 290 300
ILETIPVIRE EDKDELLRVM PSFVSSTWEV KRPLRKLLPE VNSEAIDFLE KILTFNPMDR
310 320 330 340 350 360
LTAEMGLQHP YMSPYSCPED EPTSQHPFRI EDEIDDIVLM AANQSQLSNW DTCSSRYPVS
370 380 390 400 410 420
LSSDLEWRPD RCQDASEVQR DPRAGSAPLA EDVQVDPRKD SHSSSERFLE QSHSSMERAF
430 440 450 460 470 480
EADYGRSCDY KVGSPSYLDK LLWRDNKPHH YSEPKLILDL SHWKQAAGAP PTATGLADTG
490 500 510 520 530 540
AREDEPASLF LEIAQWVKST QGGPEHASPP ADDPERRLSA SPPGRPAPVD GGASPQFDLD
550 560 570 580
VFISRALKLC TKPEDLPDNK LGDLNGACIP EHPGDLVQTE AFSKERW