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

195-217 (Activation loop from InterPro)

Target domain

55-306 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for O60285

Entry ID Method Resolution Chain Position Source
AF-O60285-F1 Predicted AlphaFoldDB

516 variants for O60285

Variant ID(s) Position Change Description Diseaes Association Provenance
CA6760661
rs749623403
2 E>K No ClinGen
ExAC
gnomAD
rs1157606361
CA386365769
3 G>E No ClinGen
gnomAD
CA386365785
CA243166500
rs56402800
3 G>R No ClinGen
TOPMed
gnomAD
rs1418981735
CA386365763
4 A>S No ClinGen
gnomAD
CA6760660
rs756547098
5 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA6760659
rs756547098
5 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs752828561
CA6760658
6 A>T No ClinGen
ExAC
gnomAD
rs568710120
CA6760657
8 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386365599
COSM1239649
COSM1239648
rs1312786713
9 A>V oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA6760656
rs755035607
10 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs201298691
CA6760655
11 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs765123265
CA6760654
12 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA386365522
rs1359838131
13 P>A No ClinGen
TOPMed
gnomAD
rs1359838131
CA386365518
13 P>S No ClinGen
TOPMed
gnomAD
rs1259017689
CA386365490
14 D>N No ClinGen
gnomAD
CA386365460
rs1236865022
15 L>M No ClinGen
TOPMed
gnomAD
rs1301728043
CA386365437
16 G>R No ClinGen
TOPMed
gnomAD
CA386365411
rs1220685109
17 L>M No ClinGen
gnomAD
CA6760652
rs375088646
19 A>T No ClinGen
ESP
ExAC
gnomAD
rs1390261166
CA386365280
20 P>L No ClinGen
TOPMed
gnomAD
rs940897851
CA243166366
20 P>S No ClinGen
TOPMed
rs760586653
CA6760650
21 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs760586653
CA386365246
21 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA6760648
rs369767838
22 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369767838
CA6760647
22 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6760646
rs774028905
23 P>L No ClinGen
ExAC
gnomAD
rs1378024955
CA386365201
23 P>S No ClinGen
TOPMed
CA386365216
rs1378024955
23 P>T No ClinGen
TOPMed
rs1478048947
CA386365137
25 E>G No ClinGen
TOPMed
gnomAD
rs1451544030
CA386365148
25 E>K No ClinGen
gnomAD
CA386365066
rs1318511676
27 V>G No ClinGen
TOPMed
rs1204567033
CA386365063
28 A>T No ClinGen
gnomAD
rs1256468216
CA386365036
29 G>R No ClinGen
gnomAD
TCGA novel 30 A>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386364965
rs1565930566
31 T>N No ClinGen
Ensembl
CA6760641
rs770046602
32 A>V No ClinGen
ExAC
gnomAD
CA6760640
rs748601284
33 A>G No ClinGen
ExAC
gnomAD
CA6760638
rs751592845
34 L>P No ClinGen
ExAC
gnomAD
CA6760637
rs751592845
34 L>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA386364883
rs1210597698
35 E>D No ClinGen
TOPMed
rs1403565470
CA386364856
36 P>R No ClinGen
gnomAD
rs1375285471
CA386364747
38 K>N No ClinGen
TOPMed
gnomAD
CA386364721
rs1169618816
COSM1358417
COSM1358418
39 P>L large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA386364719
rs1169618816
39 P>Q No ClinGen
TOPMed
gnomAD
rs1483925718
CA386364649
40 H>Q No ClinGen
TOPMed
gnomAD
rs1371496712
CA386364636
41 G>W No ClinGen
gnomAD
CA386364623
rs1192593863
42 V>M No ClinGen
gnomAD
rs1427869585
CA386364565
44 R>P No ClinGen
TOPMed
TCGA novel 47 H>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6760634
rs753715382
48 K>N No ClinGen
ExAC
gnomAD
rs764152329
CA243166257
50 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs764152329
CA6760633
50 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs55663911
CA243166253
51 L>S No ClinGen
Ensembl
CA6760631
rs752539069
COSM1358415
COSM1358416
54 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs767237376
CA6760630
55 Y>* No ClinGen
ExAC
gnomAD
CA6760629
rs759284474
56 E>K No ClinGen
ExAC
gnomAD
rs774196515
CA6760628
58 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 61 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386364307
rs1226096586
61 L>V No ClinGen
gnomAD
CA386364261
rs1294580266
65 T>S No ClinGen
gnomAD
TCGA novel 67 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770530605
CA6760627
70 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs957267584
CA243166209
71 R>Q No ClinGen
TOPMed
gnomAD
CA386364140
rs1398854614
74 E>D No ClinGen
TOPMed
TCGA novel 75 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773578237
CA6760625
78 G>D No ClinGen
ExAC
gnomAD
rs762587360
CA6760626
78 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA386364091
rs1370327590
79 R>G No ClinGen
gnomAD
rs770346153
CA6760624
79 R>Q No ClinGen
ExAC
gnomAD
CA386374757
rs1476890398
81 V>A No ClinGen
TOPMed
CA6760606
rs772812830
81 V>F No ClinGen
ExAC
gnomAD
rs765614152
CA6760605
86 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6760603
rs188490096
87 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6760604
rs188490096
87 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6760602
rs769008203
87 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6760599
CA386374707
rs772345606
89 D>E No ClinGen
ExAC
gnomAD
CA6760600
rs775635190
89 D>G No ClinGen
ExAC
gnomAD
CA6760601
rs775635190
89 D>V No ClinGen
ExAC
gnomAD
CA243183903
rs944516685
91 I>T No ClinGen
TOPMed
rs1362871677
CA386374690
92 K>Q No ClinGen
TOPMed
rs907646372
CA243183899
93 D>G No ClinGen
TOPMed
CA386374664
rs1427129756
95 Q>P No ClinGen
Ensembl
CA6760596
rs147433989
97 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386374639
rs1279338206
99 H>N No ClinGen
gnomAD
CA386374637
rs1279338206
99 H>Y No ClinGen
gnomAD
rs748063288
CA6760595
101 R>* No ClinGen
ExAC
gnomAD
CA6760594
rs781345878
102 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 103 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386374613
rs1440404833
103 E>Q No ClinGen
gnomAD
CA386374604
rs1224777821
104 I>F No ClinGen
TOPMed
rs551240873
CA243183861
104 I>T No ClinGen
Ensembl
CA243183860
rs373458255
106 I>N No ClinGen
Ensembl
rs1389548100
CA386374591
106 I>V No ClinGen
gnomAD
rs1345074497
COSM1298863
CA386374564
COSM1298864
110 L>V Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1278047844
CA386374552
111 N>K No ClinGen
TOPMed
rs1218595937
CA386374555
111 N>S No ClinGen
TOPMed
rs1402379967
CA386374547
112 H>R No ClinGen
gnomAD
TCGA novel 118 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386374497
rs1382621935
119 Y>C No ClinGen
gnomAD
rs1157810013
CA386374484
121 V>M No ClinGen
gnomAD
TCGA novel 122 F>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386372992
rs1188908140
123 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1341114266
CA386372977
124 N>K No ClinGen
TOPMed
CA386372964
rs1214778517
126 D>G No ClinGen
TOPMed
rs1486938928
CA386372967
126 D>H No ClinGen
gnomAD
TCGA novel 126 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386372951
rs1481807067
128 I>V No ClinGen
TOPMed
rs779167409
CA243165770
130 I>F No ClinGen
Ensembl
rs1592851735
CA386372932
131 I>F No ClinGen
Ensembl
CA386372921
rs1210541825
132 M>T No ClinGen
gnomAD
CA6760556
rs557272627
COSM691456
COSM691455
134 Y>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1213000118
CA386372896
135 A>V No ClinGen
gnomAD
rs1338881094
CA386372888
136 S>R No ClinGen
gnomAD
CA386372868
rs1284844232
139 E>G No ClinGen
gnomAD
TCGA novel 140 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753190492
CA6760552
142 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs964345836
CA243165705
144 I>V No ClinGen
TOPMed
rs1322837007
CA386372814
146 E>K No ClinGen
gnomAD
CA6760547
rs763058439
147 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM934354
rs771291112
CA6760548
COSM934355
147 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA6760546
rs773455181
148 R>* No ClinGen
ExAC
gnomAD
CA386372786
rs770050415
148 R>P No ClinGen
ExAC
gnomAD
CA6760545
rs770050415
148 R>Q No ClinGen
ExAC
gnomAD
rs779923959
CA6760544
149 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1259678
CA6760542
rs771887610
COSM1259679
149 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM1476074
COSM1476075
rs779923959
CA6760543
149 R>S Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1037908398
CA243165609
151 S>G No ClinGen
gnomAD
rs1320753304
CA386372740
152 E>D No ClinGen
TOPMed
CA6760540
rs778565564
153 R>M No ClinGen
ExAC
gnomAD
rs1008405329
CA243165593
155 T>I No ClinGen
TOPMed
gnomAD
CA386372694
rs1592851695
155 T>P No ClinGen
Ensembl
rs1379241199
CA386372673
156 R>Q No ClinGen
TOPMed
gnomAD
rs1565921056
CA386372674
156 R>W No ClinGen
Ensembl
rs943516070
CA243165580
158 F>C No ClinGen
Ensembl
rs377356382
CA6760539
160 R>Q No ClinGen
ExAC
gnomAD
CA243165551
rs752482605
COSM1663170
COSM1663171
160 R>W kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA243165531
rs267603280
162 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs139582229
COSM200339
COSM200340
CA6760537
163 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6760536
rs755658642
167 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA6760534
rs767962701
168 Y>C No ClinGen
ExAC
gnomAD
rs112658697 172 N>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA386372006
rs1289514577
172 N>Y No ClinGen
TOPMed
rs1011001756
CA243162937
173 G>S No ClinGen
TOPMed
rs765570986
CA6760511
174 V>M No ClinGen
ExAC
gnomAD
rs761888968
CA6760510
176 H>R No ClinGen
ExAC
gnomAD
rs1303995716
CA386371918
177 R>Q No ClinGen
TOPMed
rs776610014
CA6760509
177 R>W No ClinGen
ExAC
gnomAD
CA386371813
rs1352780890
182 E>D No ClinGen
gnomAD
CA386371771
rs1324739837
184 I>T No ClinGen
TOPMed
CA386371728
rs770705202
187 D>H No ClinGen
ExAC
gnomAD
COSM934352
COSM934353
rs770705202
CA6760505
187 D>N Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs940668263
CA243162893
188 D>N No ClinGen
TOPMed
rs749134438
CA6760504
189 N>S No ClinGen
ExAC
gnomAD
rs534706842
CA243162887
191 N>S No ClinGen
1000Genomes
CA386371592
rs1364733630
192 I>M No ClinGen
gnomAD
CA386370128
rs1196074651
194 I>V No ClinGen
gnomAD
rs1180719772
CA386370117
195 A>T No ClinGen
TOPMed
CA243152923
rs571452019
195 A>V No ClinGen
Ensembl
CA386370064
rs1217424346
199 L>F No ClinGen
gnomAD
rs1388269375
COSM1706200
COSM1706201
CA386370035
201 N>S skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA386370021
rs1295696054
202 L>R No ClinGen
gnomAD
CA6760476
rs368073167
204 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs545166073
CA243152876
205 K>T No ClinGen
1000Genomes
CA6760475
rs746190784
206 D>G No ClinGen
ExAC
rs753998943
CA6760472
210 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs753998943
CA6760473
210 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA386369920
rs1394535554
211 T>R No ClinGen
gnomAD
TCGA novel 213 C>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs998656178
CA243152850
218 Y>C No ClinGen
Ensembl
CA386369865
rs1458857778
219 A>V No ClinGen
TOPMed
rs752774711
CA6760469
223 I>V No ClinGen
ExAC
gnomAD
CA386369828
rs1488532321
225 N>S No ClinGen
TOPMed
CA386369815
rs1182176128
227 R>T No ClinGen
gnomAD
rs764908737
CA6760465
230 R>Q No ClinGen
ExAC
gnomAD
TCGA novel 236 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777260764
CA386369723
239 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs759171465
CA6760440
247 V>I No ClinGen
ExAC
gnomAD
rs1565918260
CA386369667
248 Y>D No ClinGen
Ensembl
rs1344362979
CA386369657
249 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA386369641
rs1375549777
251 M>I No ClinGen
gnomAD
CA243151708
rs868782587
252 P>L No ClinGen
Ensembl
rs1177821671
CA386369638
252 P>S No ClinGen
gnomAD
COSM934346
COSM934347
CA6760437
rs749572189
254 D>N Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs773648313
CA6760436
255 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA386369610
rs1440281975
256 F>C No ClinGen
TOPMed
rs55667101
CA243151670
256 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs981002959
CA243151660
257 D>G No ClinGen
TOPMed
rs748336286
CA6760434
257 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs748336286
CA386369607
257 D>Y No ClinGen
ExAC
gnomAD
rs141538558
CA6760433
258 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6760431
rs747119666
259 K>E No ClinGen
ExAC
gnomAD
CA6760430
rs376406542
260 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1315538458
CA386369579
261 L>F No ClinGen
TOPMed
CA6760428
COSM276413
rs753772566
COSM276414
263 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757243977
CA6760429
263 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756042950
CA6760426
268 G>* No ClinGen
ExAC
gnomAD
CA6760425
rs752380797
268 G>V No ClinGen
ExAC
gnomAD
CA6760423
rs759046362
271 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6760424
rs370122763
271 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1003510033
CA243151596
273 P>A No ClinGen
Ensembl
CA386369427
rs1210218636
274 T>A No ClinGen
gnomAD
CA386369422
rs1271998730
274 T>I No ClinGen
gnomAD
rs766746646
CA6760421
275 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA386369338
rs1338264556
278 D>Y No ClinGen
gnomAD
rs1324051870
CA386368138
280 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA243149817
rs960012986
280 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs765739015
CA6760400
281 G>E No ClinGen
ExAC
gnomAD
rs765739015
CA386368127
281 G>V No ClinGen
ExAC
gnomAD
CA386368093
rs1273871319
284 R>Q No ClinGen
TOPMed
gnomAD
CA386368097
rs1457413285
284 R>W No ClinGen
TOPMed
gnomAD
TCGA novel 286 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1336771458
CA386368045
288 M>R No ClinGen
gnomAD
CA386368031
rs1592846874
289 V>G No ClinGen
Ensembl
CA386368017
rs1592846869
290 N>K No ClinGen
Ensembl
CA386368021
rs1592846872
290 N>T No ClinGen
Ensembl
rs775646302
CA6760395
292 D>G No ClinGen
ExAC
TOPMed
gnomAD
COSM225334
rs546010292
CA6760396
COSM225333
292 D>N Variant assessed as Somatic; 0.0 impact. NS large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772183684
CA6760394
293 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA243149750
rs201088258
293 R>H No ClinGen
TOPMed
gnomAD
CA6760393
rs375824826
294 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747899336
CA6760390
297 I>T No ClinGen
ExAC
gnomAD
CA6760391
rs769881661
297 I>V Variant assessed as Somatic; 0.0001849 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 299 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386367899
rs1164558207
300 I>V No ClinGen
gnomAD
rs781111029
CA6760389
302 N>H No ClinGen
ExAC
gnomAD
rs751220510
CA6760387
302 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA6760388
rs754767637
302 N>S No ClinGen
ExAC
gnomAD
TCGA novel 303 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386367826
rs1187889590
303 H>Y No ClinGen
TOPMed
gnomAD
CA386367725
rs1592846832
306 V>G No ClinGen
Ensembl
CA243149715
rs55850452
307 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386367719
rs1439310511
307 N>S No ClinGen
TOPMed
gnomAD
rs757859531
CA6760385
309 G>D No ClinGen
ExAC
gnomAD
rs749967228
CA6760384
310 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 312 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1458958342
CA386367541
314 V>M No ClinGen
TOPMed
rs754386273
CA6760381
316 D>V No ClinGen
ExAC
gnomAD
rs879080527
CA243149661
318 D>V No ClinGen
TOPMed
CA386367435
rs764516584
319 A>D No ClinGen
ExAC
gnomAD
rs764516584
CA6760380
319 A>V No ClinGen
ExAC
gnomAD
CA6760379
rs761006444
320 L>F No ClinGen
ExAC
CA243149652
rs905955696
322 D>V No ClinGen
gnomAD
CA6760378
rs775727576
323 S>T No ClinGen
ExAC
gnomAD
CA6760377
rs772185238
325 S>Y No ClinGen
ExAC
gnomAD
rs1364841523
CA386367394
326 P>L No ClinGen
TOPMed
gnomAD
rs1364841523
CA386367393
326 P>Q No ClinGen
TOPMed
gnomAD
rs890806490
CA243149621
326 P>S No ClinGen
TOPMed
CA6760374
rs759616422
327 L>F No ClinGen
ExAC
gnomAD
rs1347388206
CA386367380
329 A>T No ClinGen
TOPMed
gnomAD
rs748065457
CA6760371
330 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771180903
CA6760372
COSM934342
COSM934343
330 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6760369
rs768485077
332 I>L No ClinGen
ExAC
gnomAD
CA386367248
rs1431553744
337 R>C No ClinGen
gnomAD
rs1266733924
CA386367246
337 R>H No ClinGen
gnomAD
CA6760368
rs746793160
338 S>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 340 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386367209
rs1232609591
341 L>Q No ClinGen
TOPMed
gnomAD
CA386367194
rs1214115854
342 Q>H No ClinGen
gnomAD
CA6760365
rs750127082
344 D>G No ClinGen
ExAC
gnomAD
CA386367127
rs1234929060
345 T>I No ClinGen
TOPMed
gnomAD
rs1565917642
CA386367105
346 E>G No ClinGen
Ensembl
rs374885903
CA6760363
346 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1215675081
CA386367079
347 A>V No ClinGen
gnomAD
rs774044844
CA243149578
352 L>P No ClinGen
Ensembl
CA386366937
rs761030245
353 A>S No ClinGen
ExAC
gnomAD
rs761030245
CA6760360
353 A>T No ClinGen
ExAC
gnomAD
rs1376413477
CA386366928
354 K>E No ClinGen
gnomAD
rs1442683209
CA386366896
355 P>S No ClinGen
TOPMed
rs753030924
COSM1289672
COSM1289673
CA6760359
356 T>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1428816207
CA386366803
360 V>A No ClinGen
TOPMed
CA386366816
rs1429069908
360 V>I No ClinGen
gnomAD
rs774753144
CA6760356
361 M>I No ClinGen
ExAC
gnomAD
rs574902249
CA243149549
362 L>I No ClinGen
1000Genomes
TOPMed
CA386366747
rs1565917617
362 L>P No ClinGen
Ensembl
COSM117198
rs145399889
CA6760354
364 R>Q ovary [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA6760355
COSM240939
rs147705634
COSM240940
364 R>W prostate [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs768508553
CA6760352
366 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM200334
rs941006183
COSM200335
CA243149526
366 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA386366658
rs1592846738
367 S>A No ClinGen
Ensembl
COSM1358406
CA6760350
COSM1358405
rs139881229
367 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA386366535
rs1218539974
374 E>G No ClinGen
gnomAD
CA386366523
rs1356569162
375 N>T No ClinGen
gnomAD
CA6760345
rs748804361
379 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs756703559
CA6760346
379 Q>L No ClinGen
ExAC
CA386366479
rs1484026982
381 G>V No ClinGen
TOPMed
rs778299911
CA6760344
384 A>P No ClinGen
ExAC
gnomAD
TCGA novel 386 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1200591559
CA386366446
386 P>L No ClinGen
TOPMed
rs1463625642
CA386366422
390 S>P No ClinGen
TOPMed
gnomAD
CA6760342
rs753293421
391 K>M No ClinGen
ExAC
gnomAD
CA386366414
rs753293421
391 K>R No ClinGen
ExAC
gnomAD
rs148697405
CA243149485
392 L>V No ClinGen
ESP
TOPMed
CA386366389
rs1477449937
395 K>E No ClinGen
gnomAD
rs1418317423
CA386366376
396 R>S No ClinGen
gnomAD
CA6760341
rs767739254
397 P>S No ClinGen
ExAC
gnomAD
CA6760339
rs751816829
403 K>E No ClinGen
ExAC
gnomAD
CA6760338
rs142935663
COSM109136
404 R>Q skin Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
CA386366322
rs1379651915
405 S>N No ClinGen
TOPMed
CA386366316
rs1458750708
406 N>D No ClinGen
TOPMed
gnomAD
rs763058664
CA386366310
406 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs368677538
CA6760336
407 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs988961079
CA386366301
408 E>* No ClinGen
TOPMed
gnomAD
rs988961079
COSM934339
CA243149426
COSM934338
408 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs370958059
CA6760333
410 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1218016
COSM1218015
rs771843801
CA6760332
410 R>H large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
CA6760331
rs538221704
411 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1303842096
CA386366273
412 H>L No ClinGen
TOPMed
CA6760328
rs202168878
417 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202168878
CA6760329
417 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_040963
rs55774704
CA243149323
419 G>D No ClinGen
UniProt
Ensembl
dbSNP
CA386366220
rs1592846676
420 V>G No ClinGen
Ensembl
rs777121945
CA6760327
420 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 421 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144124030
CA6760326
422 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748596334
CA6760325
424 A>D No ClinGen
ExAC
gnomAD
rs1033236467
CA243149313
425 L>S No ClinGen
Ensembl
rs760814933
CA6760324
426 P>A No ClinGen
ExAC
gnomAD
CA386366189
rs1395068391
426 P>L No ClinGen
TOPMed
gnomAD
CA243149309
rs760814933
426 P>S No ClinGen
ExAC
gnomAD
CA6760323
rs760814933
426 P>T No ClinGen
ExAC
gnomAD
CA386366183
rs1456237104
427 S>F No ClinGen
gnomAD
TCGA novel 429 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA243149304
rs559454484
430 K>N No ClinGen
gnomAD
rs751977714
CA6760322
432 E>Q No ClinGen
ExAC
CA6760321
rs780375162
433 Q>R No ClinGen
ExAC
gnomAD
rs765230050
CA6760318
434 D>E No ClinGen
ExAC
gnomAD
rs750699063
CA6760319
434 D>G No ClinGen
ExAC
gnomAD
rs762013451
CA6760317
435 L>F No ClinGen
ExAC
rs752522185
CA6760316
437 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA243149272
rs994230233
437 R>M No ClinGen
TOPMed
CA243149269
rs898106278
437 R>S No ClinGen
TOPMed
gnomAD
rs759290535
CA386366086
439 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs759290535
CA6760314
439 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA386366073
rs1351714295
440 V>G No ClinGen
gnomAD
rs1022920336
CA243149257
440 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6760312
rs770758232
442 L>F No ClinGen
ExAC
gnomAD
CA243149244
rs749654957
443 P>L No ClinGen
TOPMed
gnomAD
rs1458873105
COSM430222
COSM430223
CA386366010
443 P>S Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA243149242
rs1038340199
445 S>L No ClinGen
TOPMed
gnomAD
CA386365943
rs1452278544
447 E>G No ClinGen
TOPMed
TCGA novel 448 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386365891
rs1384994807
450 V>E No ClinGen
gnomAD
rs747705556
CA6760308
451 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6760309
rs769172384
451 P>S No ClinGen
ExAC
gnomAD
CA386365829
rs1157642732
452 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs769318013
CA6760306
453 K>Q No ClinGen
ExAC
gnomAD
rs747568443
CA6760305
453 K>R No ClinGen
ExAC
gnomAD
CA386365787
rs1197452411
454 L>P No ClinGen
gnomAD
rs758901008
CA6760303
456 P>R No ClinGen
ExAC
gnomAD
CA386365723
COSM1706195
COSM1706194
rs1375542497
456 P>S skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA386365657
rs373657293
458 Q>E No ClinGen
ESP
TOPMed
gnomAD
CA243149211
rs373657293
458 Q>K No ClinGen
ESP
TOPMed
gnomAD
CA243149210
rs1038316952
459 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1487450986
CA386365616
459 S>P No ClinGen
gnomAD
rs1592846577
CA386365607
460 A>T No ClinGen
Ensembl
rs757219955
COSM1476073
COSM1476072
CA6760300
461 T>M Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779212474
CA6760301
461 T>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 462 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386365540
rs1325633815
462 M>L No ClinGen
gnomAD
TCGA novel 463 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759443668
CA6760297
469 K>T No ClinGen
ExAC
gnomAD
rs766156436
CA6760295
471 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA386365064
rs1297259058
474 R>G No ClinGen
gnomAD
rs967772508
CA243149190
480 S>F No ClinGen
TOPMed
COSM1732774
CA6760293
rs772681107
COSM1732775
484 R>C pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs111758972
RCV000965249
CA6760292
484 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1170229574
CA386364645
485 S>G No ClinGen
gnomAD
CA6760290
rs200489873
488 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6760291
rs200489873
488 S>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386364472
rs979077065
492 D>N No ClinGen
TOPMed
CA243149172
rs979077065
492 D>Y No ClinGen
TOPMed
CA6760288
rs747515410
493 S>C No ClinGen
ExAC
gnomAD
TCGA novel 493 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6760287
rs780767441
494 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA386364432
rs1417352690
494 N>S No ClinGen
TOPMed
TCGA novel 496 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386364384
rs1278818503
497 M>I No ClinGen
gnomAD
CA386364390
rs1340117815
497 M>K No ClinGen
gnomAD
rs376346267
CA6760285
497 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386364376
rs1220374576
498 G>D No ClinGen
TOPMed
gnomAD
CA243149165
rs368877617
498 G>R No ClinGen
Ensembl
rs201594672
CA6760283
CA6760284
499 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386364350
rs1448313760
500 S>I No ClinGen
gnomAD
CA386364327
rs1279733898
502 P>H No ClinGen
TOPMed
CA386364325
rs1279733898
502 P>L No ClinGen
TOPMed
CA386364331
rs1331669032
502 P>S No ClinGen
gnomAD
rs777795435
CA6760281
503 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1592846512
CA386364314
503 S>P No ClinGen
Ensembl
CA386364309
rs1173528526
504 P>A No ClinGen
gnomAD
CA6760280
rs756250055
504 P>R No ClinGen
ExAC
gnomAD
rs1473915287
CA386364289
505 S>I No ClinGen
gnomAD
CA386364298
rs1210386962
505 S>R No ClinGen
gnomAD
CA6760275
rs750262992
507 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6760276
rs750262992
507 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 507 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386364252
rs1592846491
508 D>A No ClinGen
Ensembl
rs1592846484
CA386364230
510 A>G No ClinGen
Ensembl
rs763685502
CA6760271
511 R>G No ClinGen
ExAC
gnomAD
CA6760269
rs776076144
512 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1017175054
CA243149045
513 T>I No ClinGen
Ensembl
CA6760268
rs772669640
513 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs774760278
CA6760266
514 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA6760267
rs76743942
514 S>P No ClinGen
ExAC
gnomAD
CA6760265
rs115159926
515 H>P No ClinGen
ExAC
gnomAD
CA386364176
rs115159926
515 H>R No ClinGen
ExAC
gnomAD
rs1565917424
CA386364159
516 S>R No ClinGen
Ensembl
CA386364154
rs1592846464
517 L>V No ClinGen
Ensembl
CA6760263
rs778025072
518 S>F No ClinGen
ExAC
gnomAD
CA386364116
rs1166066281
519 C>S No ClinGen
gnomAD
CA6760260
rs117517173
520 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374659997
CA6760261
520 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750367833
CA6760258
527 H>Q No ClinGen
ExAC
gnomAD
rs765077418
CA6760257
CA386364025
528 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA386364014
rs1458864737
530 K>* No ClinGen
Ensembl
CA6760255
rs112197976
533 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386363984
rs1222194861
534 G>V No ClinGen
gnomAD
rs760225538
CA6760253
535 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA243148992
rs938846208
536 M>T No ClinGen
TOPMed
rs775166034
CA6760252
537 D>E No ClinGen
ExAC
gnomAD
rs766989137
CA6760251
539 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA243148967
rs946121044
542 S>N No ClinGen
TOPMed
gnomAD
CA6760248
rs3741883
543 P>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6760247
VAR_017246
rs3741883
543 P>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA386363911
rs1294686966
543 P>S No ClinGen
TOPMed
gnomAD
rs773354501
CA6760246
545 M>T No ClinGen
ExAC
gnomAD
rs1164446129
CA386363869
546 P>A No ClinGen
gnomAD
rs1420558174
CA386363860
547 T>A No ClinGen
gnomAD
rs1382357992
CA386363853
547 T>I No ClinGen
gnomAD
TCGA novel 549 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6760244
rs748176544
551 L>P No ClinGen
ExAC
gnomAD
rs1425947536
CA386363796
553 E>G No ClinGen
gnomAD
rs781309800
CA6760243
554 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA386363788
rs1191768372
554 P>S No ClinGen
gnomAD
rs1244780590
CA386363772
555 G>V No ClinGen
gnomAD
rs1565917363
CA386363741
557 P>L No ClinGen
Ensembl
rs1182316747
CA386363751
557 P>T No ClinGen
TOPMed
CA386363732
rs1488431371
558 A>D No ClinGen
gnomAD
rs757047758
CA6760239
559 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA386363726
rs757047758
559 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6760240
rs757047758
559 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA386363679
rs1592846383
562 S>Y No ClinGen
Ensembl
rs755809583
CA6760236
563 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1510838
rs777522611
CA6760237
COSM1510837
563 R>W lung Variant assessed as Somatic; 4.623e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1293338483
CA386363643
565 Y>C No ClinGen
gnomAD
rs767053893
CA6760234
566 S>R No ClinGen
ExAC
gnomAD
CA6760233
COSM1706191
rs759029750
COSM1706190
567 R>C Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752050315
CA6760232
567 R>H Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1178254979
CA386363606
568 P>T No ClinGen
TOPMed
gnomAD
CA6760228
rs770193954
571 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA6760229
rs773589766
571 V>I No ClinGen
ExAC
gnomAD
CA243148906
rs200755374
572 I>T No ClinGen
TOPMed
gnomAD
CA6760226
rs186215853
574 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA243148898
rs186215853
574 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6760225
COSM1193377
COSM1193378
rs768722408
577 V>M lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs540753037
CA386363459
580 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6760223
rs778868101
581 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1342855138
CA386363447
582 S>Y No ClinGen
TOPMed
gnomAD
rs1468866803
CA386363440
583 F>S No ClinGen
TOPMed
CA386363389
rs1592846343
590 E>G No ClinGen
Ensembl
rs777676118
CA6760220
592 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6760219
COSM934330
rs147065969
COSM934331
592 R>H endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1347505753
CA386363369
593 P>R No ClinGen
TOPMed
gnomAD
rs1464645111
CA386363367
594 A>P No ClinGen
TOPMed
gnomAD
CA386363362
rs1324493779
594 A>V No ClinGen
TOPMed
rs552751383
CA6760218
595 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM1259674
rs141618950
COSM1259675
CA6760217
595 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141618950
CA6760216
595 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6760215
rs200179138
597 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6760214
rs200668694
597 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA243148846
rs200668694
597 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs147896976
CA6760211
599 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762178790
COSM673559
COSM673558
CA6760210
599 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs776844714
CA6760209
600 S>G No ClinGen
ExAC
gnomAD
CA386363334
rs1199831417
600 S>N No ClinGen
gnomAD
rs1227100746
CA386363317
602 V>A No ClinGen
gnomAD
CA6760207
rs201685343
602 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs553121163
CA6760205
606 N>D No ClinGen
1000Genomes
ExAC
CA6760201
rs769658123
610 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA386363254
rs1402315195
611 Q>R No ClinGen
gnomAD
CA243148798
rs536423988
614 E>G No ClinGen
1000Genomes
rs747902749
CA6760200
615 G>R No ClinGen
ExAC
TOPMed
rs1168408287
CA386363199
615 G>V No ClinGen
gnomAD
rs371574217
CA6760199
616 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 617 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754610277
CA6760198
617 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs201772373
CA6760197
618 N>K No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA243148740
rs372340813
619 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6760195
rs757960457
619 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6760196
rs372340813
619 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386363069
rs1336452571
620 P>L No ClinGen
TOPMed
CA6760191
rs374349573
621 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6760192
rs757600015
621 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386363018
rs1223760914
622 P>H No ClinGen
TOPMed
CA6760189
rs760774600
625 L>P No ClinGen
ExAC
TOPMed
rs1437952591
CA386362906
626 K>M No ClinGen
TOPMed
CA6760186
rs767695462
627 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6760187
rs775916862
627 R>W No ClinGen
ExAC
gnomAD
rs142652201
CA6760184
629 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151011578
CA6760185
629 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs568713265
CA6760183
630 N>K No ClinGen
1000Genomes
ExAC
gnomAD
CA6760181
rs776270199
631 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6760182
rs552453023
631 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386362774
rs1384179436
633 A>G No ClinGen
gnomAD
rs746637932
CA6760179
638 S>A No ClinGen
ExAC
CA386362630
rs1390956618
638 S>C No ClinGen
TOPMed
rs779695417
CA6760178
641 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1452631825
CA386362428
645 D>G No ClinGen
gnomAD
CA6760177
rs757835723
647 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1314904874
CA386362397
648 Q>* No ClinGen
TOPMed
rs1208388075
CA386362391
648 Q>H No ClinGen
gnomAD
rs779341973
CA6760175
650 Y>* No ClinGen
ExAC
gnomAD
CA243148612
rs61732796
651 K>N No ClinGen
Ensembl
TCGA novel
rs1242563447
CA386362339
652 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
rs757681052
CA6760174
653 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 658 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6760171
rs756555513
661 N>H No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with O60285

3 regional properties for O60285

Type Name Position InterPro Accession
domain Protein kinase domain 55 - 306 IPR000719
active_site Serine/threonine-protein kinase, active site 174 - 186 IPR008271
binding_site Protein kinase, ATP binding site 61 - 88 IPR017441

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Nucleus
  • Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
fibrillar center A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
microtubule cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
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.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
metal ion binding Binding to a metal ion.
p53 binding Binding to one of the p53 family of proteins.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

10 GO annotations of biological process

Name Definition
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
cellular response to glucose starvation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose.
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.
regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.
regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of cellular senescence Any process that modulates the frequency, rate or extent of cellular senescence.
regulation of myosin-light-chain-phosphatase activity Any process that modulates the frequency, rate or extent of myosin-light-chain-phosphatase activity.
regulation of signal transduction by p53 class mediator Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator.

34 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P06782 SNF1 Carbon catabolite-derepressing protein kinase Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) EV
O14757 CHEK1 Serine/threonine-protein kinase Chk1 Homo sapiens (Human) EV
Q8IWQ3 BRSK2 Serine/threonine-protein kinase BRSK2 Homo sapiens (Human) PR
Q8TDC3 BRSK1 Serine/threonine-protein kinase BRSK1 Homo sapiens (Human) SS
Q14680 MELK Maternal embryonic leucine zipper kinase Homo sapiens (Human) EV
P57059 SIK1 Serine/threonine-protein kinase SIK1 Homo sapiens (Human) PR
Q9NRH2 SNRK SNF-related serine/threonine-protein kinase Homo sapiens (Human) SS
Q9BXA7 TSSK1B Testis-specific serine/threonine-protein kinase 1 Homo sapiens (Human) PR
Q13131 PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 Homo sapiens (Human) EV
P54646 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2 Homo sapiens (Human) EV
Q8C0X8 Sperm motility kinase X Mus musculus (Mouse) PR
A0AUV4 Gm7168 Sperm motility kinase Y Mus musculus (Mouse) PR
Q8C0N0 Gm4922 Sperm motility kinase Z Mus musculus (Mouse) PR
Q641K5 Nuak1 NUAK family SNF1-like kinase 1 Mus musculus (Mouse) PR
A2KF29 Smoktcr Sperm motility kinase Tcr mutant form Mus musculus (Mouse) PR
Q5QNM6 CIPK13 Putative CBL-interacting protein kinase 13 Oryza sativa subsp japonica (Rice) PR
Q5JLQ9 CIPK30 CBL-interacting protein kinase 30 Oryza sativa subsp japonica (Rice) PR
Q8LIG4 CIPK3 CBL-interacting protein kinase 3 Oryza sativa subsp japonica (Rice) PR
Q6ERS4 CIPK16 CBL-interacting protein kinase 16 Oryza sativa subsp japonica (Rice) PR
Q852Q1 OSK4 Serine/threonine protein kinase OSK4 Oryza sativa subsp. japonica (Rice) SS
Q852Q2 OSK1 Serine/threonine protein kinase OSK1 Oryza sativa subsp. japonica (Rice) SS
Q6ZLP5 CIPK23 CBL-interacting protein kinase 23 Oryza sativa subsp japonica (Rice) PR
Q2QY53 CIPK32 CBL-interacting protein kinase 32 Oryza sativa subsp japonica (Rice) PR
Q2RAX3 CIPK33 CBL-interacting protein kinase 33 Oryza sativa subsp japonica (Rice) PR
Q9LDI3 CIPK24 CBL-interacting serine/threonine-protein kinase 24 Arabidopsis thaliana (Mouse-ear cress) PR
O22971 CIPK13 CBL-interacting serine/threonine-protein kinase 13 Arabidopsis thaliana (Mouse-ear cress) PR
O65554 CIPK6 CBL-interacting serine/threonine-protein kinase 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q93VD3 CIPK23 CBL-interacting serine/threonine-protein kinase 23 Arabidopsis thaliana (Mouse-ear cress) PR
Q94CG0 CIPK21 CBL-interacting serine/threonine-protein kinase 21 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FJ54 CIPK20 CBL-interacting serine/threonine-protein kinase 20 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FLZ3 KIN12 SNF1-related protein kinase catalytic subunit alpha KIN12 Arabidopsis thaliana (Mouse-ear cress) SS
Q2V452 CIPK3 CBL-interacting serine/threonine-protein kinase 3 Arabidopsis thaliana (Mouse-ear cress) SS
P92958 KIN11 SNF1-related protein kinase catalytic subunit alpha KIN11 Arabidopsis thaliana (Mouse-ear cress) PR
Q38997 KIN10 SNF1-related protein kinase catalytic subunit alpha KIN10 Arabidopsis thaliana (Mouse-ear cress) SS
10 20 30 40 50 60
MEGAAAPVAG DRPDLGLGAP GSPREAVAGA TAALEPRKPH GVKRHHHKHN LKHRYELQET
70 80 90 100 110 120
LGKGTYGKVK RATERFSGRV VAIKSIRKDK IKDEQDMVHI RREIEIMSSL NHPHIISIYE
130 140 150 160 170 180
VFENKDKIVI IMEYASKGEL YDYISERRRL SERETRHFFR QIVSAVHYCH KNGVVHRDLK
190 200 210 220 230 240
LENILLDDNC NIKIADFGLS NLYQKDKFLQ TFCGSPLYAS PEIVNGRPYR GPEVDSWALG
250 260 270 280 290 300
VLLYTLVYGT MPFDGFDHKN LIRQISSGEY REPTQPSDAR GLIRWMLMVN PDRRATIEDI
310 320 330 340 350 360
ANHWWVNWGY KSSVCDCDAL HDSESPLLAR IIDWHHRSTG LQADTEAKMK GLAKPTTSEV
370 380 390 400 410 420
MLERQRSLKK SKKENDFAQS GQDAVPESPS KLSSKRPKGI LKKRSNSEHR SHSTGFIEGV
430 440 450 460 470 480
VGPALPSTFK MEQDLCRTGV LLPSSPEAEV PGKLSPKQSA TMPKKGILKK TQQRESGYYS
490 500 510 520 530 540
SPERSESSEL LDSNDVMGSS IPSPSPPDPA RVTSHSLSCR RKGILKHSSK YSAGTMDPAL
550 560 570 580 590 600
VSPEMPTLES LSEPGVPAEG LSRSYSRPSS VISDDSVLSS DSFDLLDLQE NRPARQRIRS
610 620 630 640 650 660
CVSAENFLQI QDFEGLQNRP RPQYLKRYRN RLADSSFSLL TDMDDVTQVY KQALEICSKL
N