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

477-514 (Activation loop from InterPro)

Target domain

339-604 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

11 structures for P53667

Entry ID Method Resolution Chain Position Source
3S95 X-ray 165 A A/B 330-637 PDB
5HVJ X-ray 220 A A/B 329-638 PDB
5HVK X-ray 350 A A/C 329-638 PDB
5L6W X-ray 253 A L 330-637 PDB
5NXC X-ray 225 A L 330-637 PDB
6WLY X-ray 190 A B 503-512 PDB
7ATS X-ray 280 A A 330-637 PDB
7ATU X-ray 280 A A/B/C/D 330-637 PDB
7B8W X-ray 280 A A/B/C/D 330-637 PDB
8AAU X-ray 174 A L 330-637 PDB
AF-P53667-F1 Predicted AlphaFoldDB

486 variants for P53667

Variant ID(s) Position Change Description Diseaes Association Provenance
rs178412
RCV000906489
VAR_050148
CA4294072
RCV002542089
580 F>Y Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA367894667
rs868922973
2 R>M No ClinGen
Ensembl
rs1554693708
CA367894696
4 T>M No ClinGen
gnomAD
CA367894701
rs1343725917
5 L>I No ClinGen
TOPMed
gnomAD
rs1343725917
CA367894702
5 L>V No ClinGen
TOPMed
gnomAD
rs1554693711
CA367894755
9 T>I No ClinGen
gnomAD
CA367894772
rs1554693712
11 R>G No ClinGen
gnomAD
CA367894804
rs1554693713
13 E>* No ClinGen
gnomAD
CA367894806
rs1584101743
13 E>G No ClinGen
Ensembl
rs555610196
CA4293462
14 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA367894824
rs1554693715
15 M>V No ClinGen
gnomAD
rs1554693716
CA367894847
16 G>* No ClinGen
gnomAD
rs1554693718
CA367894881
18 E>A No ClinGen
gnomAD
rs1554693717
CA367894875
18 E>K No ClinGen
gnomAD
CA4293477
rs555639387
19 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1554693957
CA367894981
20 S>C No ClinGen
gnomAD
rs141152379
CA367894989
20 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4293480
rs146926126
21 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146926126
CA4293479
21 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367895031
rs1554693964
23 P>L No ClinGen
gnomAD
rs782637040
CA367895033
24 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs782637040
CA4293482
24 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1480661844
CA367895040
25 C>Y No ClinGen
TOPMed
gnomAD
rs116469048
CA160125270
27 S>G No ClinGen
1000Genomes
gnomAD
rs1554693968
CA367895062
28 C>G No ClinGen
gnomAD
CA367895063
rs1554693970
28 C>Y No ClinGen
gnomAD
rs1554693973
CA367895071
29 G>D No ClinGen
gnomAD
rs1376847977
CA367895068
29 G>S No ClinGen
TOPMed
gnomAD
CA367895078
rs1554693977
30 Q>R No ClinGen
gnomAD
rs1429870088
CA367895084
31 R>K No ClinGen
TOPMed
rs782173029
CA4293486
32 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA4293487
rs782428010
33 Y>C No ClinGen
ExAC
gnomAD
CA367895119
rs1203997992
34 D>H No ClinGen
TOPMed
CA367895118
rs1203997992
34 D>N No ClinGen
TOPMed
TCGA novel 35 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1265595948
CA367895136
35 G>D No ClinGen
TOPMed
gnomAD
rs1554693984
CA367895198
40 A>T No ClinGen
gnomAD
rs377360444
CA367895229
42 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1273382622
CA367895225
42 N>S No ClinGen
TOPMed
gnomAD
CA4293490
rs782368761
43 A>T No ClinGen
ExAC
gnomAD
CA160125336
rs782670690
43 A>V No ClinGen
TOPMed
gnomAD
rs868938348
CA367895261
45 W>* No ClinGen
Ensembl
TCGA novel 45 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367895272
rs1554693989
46 H>Y No ClinGen
gnomAD
rs370710652
CA4293493
47 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1554693992
CA367895294
47 A>V No ClinGen
gnomAD
rs1584111849
CA367896082
52 C>G No ClinGen
Ensembl
rs1554695632
CA367896088
52 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4293514
rs371668271
54 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4293513
rs782749523
54 D>N No ClinGen
ExAC
gnomAD
CA4293515
rs782065106
56 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs782699896
CA4293516
58 S>C No ClinGen
ExAC
gnomAD
CA4293517
rs781901818
59 L>M No ClinGen
ExAC
gnomAD
rs782653004
CA4293519
60 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367896207
rs1554695644
63 Y>C No ClinGen
gnomAD
CA367896223
rs1463476839
64 Y>* No ClinGen
TOPMed
rs782484087
CA4293521
64 Y>C No ClinGen
ExAC
gnomAD
CA160134244
rs149064522
64 Y>H No ClinGen
ESP
gnomAD
rs1373526740
CA367896235
65 E>D No ClinGen
TOPMed
CA367896243
rs143058870
66 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000962908
rs143058870
CA4293522
66 K>T No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs782189161
CA4293523
67 D>N No ClinGen
ExAC
gnomAD
rs782430641
CA4293524
68 G>E No ClinGen
ExAC
gnomAD
CA367896316
rs1259335311
73 K>Q No ClinGen
TOPMed
CA575342101
rs1554695656
76 Y>E No ClinGen
gnomAD
rs1188295319
CA367896366
77 W>R No ClinGen
TOPMed
CA4293525
rs782664514
78 A>V No ClinGen
ExAC
gnomAD
CA4293526
rs782260857
79 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA367896387
rs1554695664
79 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4293527
rs771756377
80 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA367896419
rs1258024112
82 E>G No ClinGen
TOPMed
CA4293528
rs781972785
82 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA4293529
rs782209879
83 S>F No ClinGen
ExAC
gnomAD
CA367896432
rs782209879
83 S>Y No ClinGen
ExAC
gnomAD
CA4293530
rs782323264
85 H>L No ClinGen
ExAC
gnomAD
rs1554695671
CA367896471
86 G>E No ClinGen
gnomAD
CA4293531
rs781918060
86 G>R No ClinGen
ExAC
gnomAD
CA4293533
rs782794386
91 I>V No ClinGen
ExAC
gnomAD
rs201593102
CA160134337
94 G>A No ClinGen
ExAC
gnomAD
CA4293534
rs201593102
94 G>V No ClinGen
ExAC
gnomAD
rs993902658
CA160134340
96 V>I No ClinGen
gnomAD
rs1244254318
CA367896740
101 E>G No ClinGen
TOPMed
gnomAD
CA367896807
rs1584112374
105 H>P No ClinGen
Ensembl
CA4293565
rs782280511
106 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4293567
rs782628948
107 E>K No ClinGen
ExAC
gnomAD
rs1554695768
CA367896872
109 F>V No ClinGen
gnomAD
CA367896898
rs1213229889
110 I>M No ClinGen
TOPMed
CA4293569
rs782338770
111 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA367896929
rs1277922092
113 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 115 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367896961
rs1365388063
116 T>N No ClinGen
TOPMed
gnomAD
rs1271763707
CA367896977
117 F>L No ClinGen
TOPMed
CA367896995
rs1554695778
119 G>S No ClinGen
gnomAD
CA4293574
COSM3768477
rs782124445
121 G>R liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA367897043
rs1554695784
123 T>I No ClinGen
gnomAD
rs782027176
CA4293576
125 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA160134632
rs782109718
127 V>M No ClinGen
gnomAD
CA367897086
rs1413317518
128 E>G No ClinGen
TOPMed
rs374366368
CA4293580
131 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782739229 134 C>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs781817349
CA4293600
135 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs782062953
CA4293601
136 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1563915922
CA367897250
136 H>Y No ClinGen
Ensembl
CA4293602
rs782695636
140 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs754506177
CA160135565
141 T>I No ClinGen
Ensembl
rs1278844912
CA367897313
141 T>S No ClinGen
TOPMed
gnomAD
CA367897327
rs1554696091
142 V>E No ClinGen
gnomAD
CA367897343
rs1584114313
144 T>P No ClinGen
Ensembl
CA4293604
rs544200500
146 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs782622148
CA4293605
147 I>* No ClinGen
ExAC
rs782534356
CA4293606
148 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs782534356
CA367897385
148 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs782632231
CA4293607
149 Q>H No ClinGen
ExAC
gnomAD
rs1403948828
CA367897410
150 I>V No ClinGen
TOPMed
rs1554696101
CA367897466
155 P>L No ClinGen
gnomAD
CA367897483
rs965643252
157 S>C No ClinGen
TOPMed
rs965643252
CA160135604
157 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs202229741
CA4293610
157 S>T No ClinGen
1000Genomes
ExAC
CA367897493
rs1584114388
158 H>P No ClinGen
Ensembl
rs1554696110
CA367897517
160 P>L No ClinGen
gnomAD
CA367897519
rs1554696111
161 H>N No ClinGen
gnomAD
rs782185429
CA4293612
162 T>I No ClinGen
ExAC
gnomAD
CA367897540
rs1407930830
163 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA367897551
rs1157290227
164 T>A No ClinGen
TOPMed
CA367897554
rs1157290227
164 T>P No ClinGen
TOPMed
CA160135626
rs921487642
172 S>C No ClinGen
gnomAD
CA367897635
rs921487642
172 S>Y No ClinGen
gnomAD
CA367897656
rs1554696125
174 G>D No ClinGen
gnomAD
rs1199051098
CA367897664
175 K>M No ClinGen
TOPMed
rs532992878
CA4293613
176 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367897672
rs1554696132
176 R>H No ClinGen
gnomAD
rs1563916050
CA367897711
179 S>* No ClinGen
Ensembl
rs782257035
CA4293615
180 V>A No ClinGen
ExAC
gnomAD
CA367897733
rs868909835
182 I>L No ClinGen
gnomAD
CA4293617
rs781960197
182 I>T No ClinGen
ExAC
gnomAD
CA367897735
rs868909835
182 I>V No ClinGen
gnomAD
rs150491142
CA367897752
183 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782321094
CA367897757
184 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA367897759
rs781917913
184 P>H No ClinGen
ExAC
gnomAD
rs781917913
CA4293620
184 P>L No ClinGen
ExAC
gnomAD
rs782321094
CA4293619
184 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA160135660
rs908667284
185 P>A No ClinGen
Ensembl
CA4293623
rs782786185
185 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA4293622
rs782786185
185 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs138470279
CA367897778
187 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138470279
CA4293626
187 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782453744
CA4293628
189 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA367897799
rs782453744
189 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4293627
rs782453744
189 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA4293630
rs35827364
VAR_042246
RCV000953556
190 G>A No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA367897814
rs1430848982
191 C>R No ClinGen
TOPMed
rs1344030535
CA367897817
191 C>Y No ClinGen
TOPMed
rs782631807
CA4293631
192 G>D No ClinGen
ExAC
gnomAD
rs782631807
CA367897834
192 G>V No ClinGen
ExAC
gnomAD
rs782226834
CA4293632
193 T>I No ClinGen
ExAC
gnomAD
CA4293634
rs782587891
194 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1430502129
CA367897858
195 H>N No ClinGen
TOPMed
rs1554696156
CA367897875
196 S>L No ClinGen
gnomAD
CA367897882
rs1554696158
197 H>P No ClinGen
gnomAD
rs1554696157
CA367897880
197 H>Y No ClinGen
gnomAD
rs1479639469
CA367897897
198 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs371341363
CA4293637
199 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371341363
CA4293638
199 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782366559
CA4293639
200 R>C No ClinGen
ExAC
gnomAD
rs1240429597
CA367897909
200 R>H No ClinGen
TOPMed
gnomAD
rs782691662
CA4293642
201 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA367897926
rs782036877
202 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA4293643
rs782036877
202 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA4293644
rs149379462
203 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367899441
rs1443022799
205 D>H No ClinGen
TOPMed
CA4293672
rs782476671
206 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367899458
rs782476671
206 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1554697352
CA367899451
206 P>T No ClinGen
gnomAD
rs114966632
CA4293675
RCV000901627
207 G>D No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs406970
CA160139826
207 G>S No ClinGen
Ensembl
CA4293677
CA4293676
rs182322108
209 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
gnomAD
NCI-TCGA
rs1554697366
CA367899482
209 M>V No ClinGen
gnomAD
TCGA novel 210 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 212 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367899566
rs1202379279
216 S>Y No ClinGen
TOPMed
gnomAD
CA4293679
rs782623734
219 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs546124114
CA4293681
220 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA4293683
rs148676592
222 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4293682
rs781913408
222 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 223 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782413398
CA4293684
229 T>M No ClinGen
ExAC
gnomAD
CA367899708
rs1277225686
230 P>T No ClinGen
TOPMed
gnomAD
rs537723113
CA4293686
232 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4293688
rs781935606
236 L>V No ClinGen
ExAC
gnomAD
rs1362735412
CA367899791
238 E>G No ClinGen
TOPMed
gnomAD
COSM3715779
rs782551009
CA4293691
238 E>K upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs782551009
CA367899788
238 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA367899860
rs1554697437
239 I>V No ClinGen
gnomAD
rs1584121162
CA367899884
240 D>A No ClinGen
Ensembl
rs1584121182
CA367899971
246 T>P No ClinGen
Ensembl
CA4293711
VAR_042247
rs55661242
247 S>N No ClinGen
UniProt
ExAC
dbSNP
gnomAD
rs782432791
CA4293712
248 R>C No ClinGen
ExAC
gnomAD
CA4293713
rs115921303
248 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1479393297
CA367900146
253 T>I No ClinGen
TOPMed
TCGA novel 255 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1584121228
CA367900272
257 D>A No ClinGen
Ensembl
CA4293719
RCV000884438
rs114211869
259 H>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs142288587
CA4293718
259 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4293721
rs115350700
260 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367900340
rs1320534765
260 D>V No ClinGen
TOPMed
CA4293722
rs782007788
261 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA367900389
rs781945335
264 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA4293725
rs781945335
264 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs369236766
CA4293727
265 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4293729
rs782143183
268 P>S No ClinGen
ExAC
gnomAD
CA4293730
rs145280906
269 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs570895327
CA4293731
271 S>T No ClinGen
1000Genomes
ExAC
CA367900515
rs1425674200
272 P>A No ClinGen
TOPMed
rs1170965360
CA367900520
272 P>L No ClinGen
TOPMed
rs782088567
CA4293732
275 S>C No ClinGen
ExAC
gnomAD
rs782716197
CA4293733
COSM3663310
276 P>L Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA367900659
rs458683
280 P>L No ClinGen
Ensembl
rs782545777
CA4293735
281 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs140698496
CA367900704
CA4293737
282 G>R No ClinGen
ESP
ExAC
gnomAD
rs200757294
CA4293738
284 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367900766
rs1554697478
285 G>S No ClinGen
gnomAD
rs782210180
CA4293740
288 A>V No ClinGen
ExAC
gnomAD
rs199717579
CA367900853
289 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4293743
rs199717579
COSM3663311
289 R>Q liver Variant assessed as Somatic; 0.001068 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs191821726
CA4293741
289 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA160140232
rs61734439
290 Q>* No ClinGen
Ensembl
CA367900929
rs1306152187
293 V>F No ClinGen
TOPMed
CA367900922
rs1306152187
293 V>I No ClinGen
TOPMed
CA367901053
rs1215952699
294 L>F No ClinGen
TOPMed
CA367901111
rs1445944043
297 C>R No ClinGen
TOPMed
rs1281478205
CA367901166
299 I>V No ClinGen
TOPMed
CA367901191
rs1554697705
300 D>N No ClinGen
gnomAD
CA367901290
rs1554697711
305 A>T No ClinGen
gnomAD
rs1222058569
CA367901322
306 G>S No ClinGen
TOPMed
rs782376346
CA4293764
307 S>L No ClinGen
ExAC
gnomAD
CA4293766
rs782606330
309 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs782606330
CA367901389
309 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs782606330
CA4293765
309 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA4293767
rs782314596
311 P>A No ClinGen
ExAC
gnomAD
rs782037598
CA367901410
311 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs782037598
CA4293768
311 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1554697724
CA367901417
312 A>T No ClinGen
gnomAD
rs782281455
CA4293769
314 Q>R No ClinGen
ExAC
TOPMed
CA4293770
rs782394584
315 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4293771
rs371905268
315 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782394584
CA367901486
315 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA4293773
rs782748955
316 K>E No ClinGen
ExAC
gnomAD
TCGA novel 317 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782046802
CA367901588
319 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs782046802
CA4293775
319 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs145502526
CA4293776
320 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4293777
rs781884611
320 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781884611
CA367901606
320 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs11541654
CA4293779
324 L>F No ClinGen
ExAC
gnomAD
rs11541654
CA160140989
324 L>I No ClinGen
ExAC
gnomAD
rs781836367
CA4293780
325 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs782450849
CA4293782
325 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782450849
CA4293781
325 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4293784
rs534233728
326 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4293785
rs534233728
326 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 328 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs11541656
CA4293787
329 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782256257
CA4293786
329 R>W No ClinGen
ExAC
gnomAD
rs1554697769
CA367901789
330 P>L No ClinGen
gnomAD
CA367901814
rs1554697771
331 H>Q No ClinGen
gnomAD
CA160141024
rs935417701
332 R>C No ClinGen
TOPMed
rs781956388
CA4293788
332 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367901862
rs1453431626
335 R>W No ClinGen
TOPMed
rs782187840
CA4293789
336 P>A No ClinGen
ExAC
gnomAD
CA367901874
rs1406801488
336 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA4293792
rs782144000
337 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1170806551
CA367901945
340 I>L No ClinGen
TOPMed
CA367901984
CA4293796
rs782742428
342 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA367902021
rs1584122549
344 V>G No ClinGen
Ensembl
CA367902042
rs868965338
345 L>P No ClinGen
Ensembl
rs1444693639
CA367902061
346 G>C No ClinGen
TOPMed
CA4293798
rs544952098
347 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1241933138
CA367902134
350 F>L No ClinGen
TOPMed
CA367902161
rs1554697799
351 G>S No ClinGen
gnomAD
rs1563920128
CA367902207
353 A>V No ClinGen
Ensembl
rs138393572
CA4293801
354 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138393572
CA367902219
354 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367902234
rs1554697805
355 K>E No ClinGen
TOPMed
rs11541655
CA4293818
359 R>C No ClinGen
ExAC
gnomAD
rs11541655
CA160141662
359 R>G No ClinGen
ExAC
gnomAD
CA367903365
rs1306498956
359 R>H No ClinGen
TOPMed
gnomAD
rs781847213
CA4293820
365 M>I No ClinGen
ExAC
gnomAD
rs1554697904
CA367903502
365 M>V No ClinGen
gnomAD
CA4293821
rs782088817
369 E>A No ClinGen
ExAC
gnomAD
rs782719556
CA4293822
370 L>Q No ClinGen
ExAC
gnomAD
TCGA novel 371 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4293824
rs782560083
372 R>Q No ClinGen
ExAC
gnomAD
rs781786589
CA4293823
372 R>W No ClinGen
ExAC
gnomAD
CA160141751
rs538666208
373 F>L No ClinGen
1000Genomes
gnomAD
rs1554697917
CA367903731
374 D>N No ClinGen
gnomAD
CA367903774
rs868955734
375 E>* No ClinGen
TOPMed
gnomAD
rs553744740
CA4293825
375 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA160141754
rs868955734
375 E>K No ClinGen
TOPMed
gnomAD
rs1554697922
CA367903824
376 E>D No ClinGen
gnomAD
rs1554697925
CA367903873
378 Q>L No ClinGen
gnomAD
rs1160254494
CA367903893
379 R>K No ClinGen
TOPMed
gnomAD
rs782494881
CA4293827
380 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4293829
rs542387791
382 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA160141792
rs542387791
382 L>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1197545484
CA367904172
385 V>M No ClinGen
TOPMed
gnomAD
rs1554698112
CA367904220
387 V>I No ClinGen
gnomAD
CA367904239
rs1584124324
388 M>T No ClinGen
Ensembl
rs782158297
CA160142363
389 R>* No ClinGen
TOPMed
CA367904254
rs1270598913
389 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA367904419
rs1266560668
398 K>R No ClinGen
TOPMed
CA160142372
rs988565922
401 G>R No ClinGen
Ensembl
CA367904493
rs1554698125
CA367904496
402 V>L No ClinGen
gnomAD
CA367904510
rs1554698130
403 L>I No ClinGen
gnomAD
CA367904601
rs1554698132
407 K>R No ClinGen
gnomAD
CA367904663
rs1584124405
410 N>D No ClinGen
Ensembl
rs912962958
CA160142386
410 N>T No ClinGen
TOPMed
rs115876228
CA4293847
411 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs782245339
CA4293849
414 E>D No ClinGen
ExAC
gnomAD
CA367904762
rs1322505866
416 I>L No ClinGen
TOPMed
gnomAD
rs782617443
CA4293851
419 G>S No ClinGen
ExAC
gnomAD
rs782196710
CA4293852
420 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs535891232
CA367904884
422 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4293856
RCV000883510
VAR_042248
rs55679316
422 R>Q No ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA4293855
rs535891232
422 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367905023
rs1554698157
428 M>R No ClinGen
gnomAD
rs1554698157
CA367905021
428 M>T No ClinGen
gnomAD
TCGA novel 429 D>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367905328
rs1217077571
429 D>E No ClinGen
TOPMed
CA4293910
rs782672759
429 D>G No ClinGen
ExAC
gnomAD
rs782453789
CA160144119
430 S>R No ClinGen
TOPMed
CA367905428
rs1554698653
435 S>G No ClinGen
gnomAD
CA367905438
rs1294080923
435 S>N No ClinGen
TOPMed
CA4293912
rs782500795
438 V>L No ClinGen
ExAC
gnomAD
rs782500795
CA367905482
438 V>M No ClinGen
ExAC
gnomAD
CA367905561
rs1244200610
442 K>R No ClinGen
TOPMed
gnomAD
rs138833897
CA367905616
444 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141412371
CA4293915
COSM3768478
445 A>T Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1554698661
CA367905631
445 A>V No ClinGen
gnomAD
rs1554698662
CA367905656
447 G>E No ClinGen
gnomAD
rs782692265
CA4293916
448 M>V No ClinGen
ExAC
gnomAD
CA367906374
rs1205824113
449 A>D No ClinGen
TOPMed
CA367906439
rs1554698718
454 M>L No ClinGen
gnomAD
CA4293946
rs782730435
456 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs782730435
CA4293945
456 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA367906487
rs879982456
457 I>F No ClinGen
Ensembl
TCGA novel 460 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 462 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1584127436
CA367906562
462 N>T No ClinGen
Ensembl
CA4293949
rs377306326
464 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1554698725
CA367906644
468 V>L No ClinGen
gnomAD
rs368498172
CA4293950
469 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4293951
rs371888844
469 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 472 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367906939
rs1406748048
472 K>R No ClinGen
TOPMed
rs1414015235
CA367906949
473 N>S No ClinGen
TOPMed
CA367906971
rs1162149400
475 V>L No ClinGen
TOPMed
gnomAD
rs1162149400
CA367906968
475 V>M No ClinGen
TOPMed
gnomAD
rs1254642834
CA367907001
478 D>A No ClinGen
TOPMed
rs1554699354
CA367907194
479 F>V No ClinGen
TOPMed
gnomAD
rs782279860
CA4293979
482 A>V No ClinGen
ExAC
gnomAD
rs1224153517
CA367907218
483 R>C No ClinGen
TOPMed
gnomAD
CA367907219
rs1554699364
483 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs890832391
CA160146932
485 M>I No ClinGen
TOPMed
gnomAD
CA367907241
rs1584131364
486 V>G No ClinGen
Ensembl
rs782634172
CA4293981
487 D>V No ClinGen
ExAC
gnomAD
TCGA novel 488 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1554699365
CA367907270
490 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 491 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782337235
CA4293983
494 G>S No ClinGen
ExAC
gnomAD
rs782048518
CA4293985
496 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4293984
rs781932129
496 R>W No ClinGen
ExAC
gnomAD
rs1228947066
CA367907312
497 S>R No ClinGen
TOPMed
gnomAD
rs1554699368
CA367907315
498 L>V No ClinGen
gnomAD
rs782412623
CA4293987
501 P>S No ClinGen
ExAC
gnomAD
CA4293988
rs782015145
502 D>N No ClinGen
ExAC
gnomAD
CA4293989
rs375815129
503 R>G No ClinGen
ExAC
gnomAD
CA4293990
rs782777225
503 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367907351
rs782777225
503 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1554699379
CA367907368
506 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1305991876
CA367907371
506 R>H No ClinGen
TOPMed
rs1438281606
CA367907375
507 Y>H No ClinGen
TOPMed
rs868944564
CA367907387
508 T>I No ClinGen
Ensembl
CA4293994
rs781907321
509 V>M No ClinGen
ExAC
gnomAD
rs1554699389
CA367907410
512 N>S No ClinGen
gnomAD
CA367907436
rs1584131508
516 M>L No ClinGen
Ensembl
rs1554699390
CA367907455
518 P>L No ClinGen
gnomAD
CA4293997
rs201978986
522 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs200533853
CA4294018
524 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4294019
rs782648759
524 R>H No ClinGen
ExAC
gnomAD
rs1554700369
CA367885614
527 D>V No ClinGen
gnomAD
rs1402129678
CA367885703
529 K>E No ClinGen
TOPMed
CA367885718
rs1554700374
530 V>M No ClinGen
gnomAD
CA367885735
rs1408969044
531 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 533 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367885827
rs1554700379
535 F>V No ClinGen
gnomAD
rs1554700382
CA367885867
536 G>E No ClinGen
gnomAD
CA4294024
rs375588485
538 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs267601565 542 I>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782010371
CA4294050
544 G>R No ClinGen
ExAC
gnomAD
rs782125431
CA4294051
545 R>Q Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1554700431
CA367886198
545 R>W No ClinGen
gnomAD
CA367886226
rs1584136588
546 V>G No ClinGen
Ensembl
rs781963550
CA4294053
548 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA367886274
rs781963550
548 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA367886304
rs1261241056
549 D>N No ClinGen
TOPMed
TCGA novel 549 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 550 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4294054
rs782083575
551 D>H No ClinGen
ExAC
gnomAD
CA367886497
rs1554700440
555 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA367886504
rs1554700442
555 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1554700444
CA367886535
556 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 558 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1554700451
CA367886681
560 G>D No ClinGen
gnomAD
rs1554700454
CA367886704
562 N>D No ClinGen
gnomAD
rs1554700455
CA367886780
564 R>Q No ClinGen
gnomAD
TCGA novel 565 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1284913943
CA367886878
568 D>E No ClinGen
TOPMed
rs1344462823
CA367886884
569 R>C No ClinGen
TOPMed
gnomAD
CA4294059
rs781858915
569 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA367886918
rs1384981303
570 Y>C No ClinGen
TOPMed
CA367886914
rs1383423380
570 Y>H No ClinGen
TOPMed
CA4294060
rs782494434
572 P>A No ClinGen
ExAC
gnomAD
rs782606961
CA4294062
573 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs782432386
CA4294063
573 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA367886999
rs782606961
573 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4294061
rs782606961
573 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA4294064
rs782676279
574 N>D No ClinGen
ExAC
gnomAD
rs782676279
CA4294065
574 N>Y No ClinGen
ExAC
gnomAD
CA4294067
rs782390592
575 C>W No ClinGen
ExAC
gnomAD
rs1408813162
CA367887068
576 P>S No ClinGen
TOPMed
CA4294070
rs782345155
577 P>L No ClinGen
ExAC
gnomAD
CA4294071
rs782345155
577 P>R No ClinGen
ExAC
gnomAD
CA4294069
rs147218553
577 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781852315 578 S>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782403617
CA4294073
582 I>T No ClinGen
ExAC
gnomAD
COSM3698536
rs782109144
CA4294075
584 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA4294076
rs142054083
585 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781813342
CA4294077
585 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA367887441
rs1264839604
588 D>E No ClinGen
TOPMed
gnomAD
rs782061784
CA4294079
588 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA4294078
rs782061784
588 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367887428
rs782061784
588 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA367887513
rs868921814
591 P>L No ClinGen
Ensembl
CA4294082
COSM3778569
rs782664768
592 E>K Variant assessed as Somatic; 4.961e-05 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 592 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4294084
rs782499090
593 K>E No ClinGen
ExAC
gnomAD
rs376757046
CA4294109
597 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1316367646
CA367887828
601 E>Q No ClinGen
TOPMed
rs1584137084
CA367887968
605 E>G No ClinGen
Ensembl
CA367887994
rs1554700519
606 T>P No ClinGen
Ensembl
rs782027635
CA4294112
608 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs782270979
CA4294113
608 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370934853
CA4294114
RCV000785722
609 M>I No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1331252829
CA367888055
609 M>V No ClinGen
TOPMed
gnomAD
CA4294115
rs781975786
610 H>P No ClinGen
ExAC
gnomAD
CA367888108
rs1554700529
611 L>R No ClinGen
gnomAD
rs782768305
CA4294120
613 G>A No ClinGen
ExAC
gnomAD
rs782768305
CA160113566
613 G>D No ClinGen
ExAC
gnomAD
rs368807700
CA4294119
613 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4294122
rs200012525
614 H>P No ClinGen
ExAC
gnomAD
CA4294121
rs781856172
614 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs782726695
CA4294123
615 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA367888179
rs1584137192
615 L>R No ClinGen
Ensembl
CA4294124
rs782726695
615 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1584137206
CA367888218
617 L>P No ClinGen
Ensembl
rs1554700545
CA367888229
618 G>S No ClinGen
gnomAD
CA4294127
rs371425358
622 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782349496
CA4294131
625 D>E No ClinGen
ExAC
gnomAD
rs782588250
CA4294132
631 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA4294135
rs782002557
633 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4294134
rs782416703
633 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs140218235
CA4294136
634 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782355007
CA4294137
634 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs782707234
CA4294139
635 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs782013377
CA160113656
636 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA367888737
rs376617300
638 G>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4294142
rs376617300
638 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367888741
rs1554700576
638 G>V No ClinGen
gnomAD
rs782776451
CA4294143
640 P>A No ClinGen
ExAC
gnomAD
CA367888802
rs1554700581
641 A>T No ClinGen
gnomAD
rs1470397205
CA367888820
642 H>Y No ClinGen
TOPMed
gnomAD
CA367888839
rs1554700585
643 P>T No ClinGen
gnomAD
rs782484475
CA4294145
645 V>D No ClinGen
ExAC
gnomAD
CA367888919
rs1554700590
646 P>L No ClinGen
gnomAD
CA367888907
rs1554700589
646 P>S No ClinGen
gnomAD
rs781811762
CA4294147
647 D>N No ClinGen
ExAC
TOPMed
gnomAD

1 associated diseases with P53667

Without disease ID

6 regional properties for P53667

Type Name Position InterPro Accession
domain Protein kinase domain 339 - 604 IPR000719
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 341 - 602 IPR001245
domain PDZ domain 165 - 258 IPR001478
domain Zinc finger, LIM-type 23 - 82 IPR001781-1
domain Zinc finger, LIM-type 83 - 144 IPR001781-2
binding_site Protein kinase, ATP binding site 345 - 368 IPR017441

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Cytoplasm, cytoskeleton
  • Cell projection, lamellipodium
  • Predominantly found in the cytoplasm
  • Localizes in the lamellipodium in a CDC42BPA, CDC42BPB and FAM89B/LRAP25-dependent manner
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
male germ cell nucleus The nucleus of a male germ cell, a reproductive cell in males.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.

6 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
heat shock protein binding Binding to a heat shock protein, a protein synthesized or activated in response to heat shock.
metal ion binding Binding to a metal ion.
protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
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.

12 GO annotations of biological process

Name Definition
actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
axon extension Long distance growth of a single axon process involved in cellular development.
Fc-gamma receptor signaling pathway involved in phagocytosis An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes.
negative regulation of ubiquitin-protein transferase activity Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin transferase activity.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
positive regulation of actin filament bundle assembly Any process that activates or increases the frequency, rate or extent of the assembly of actin filament bundles.
positive regulation of axon extension Any process that activates or increases the frequency, rate or extent of axon extension.
positive regulation of stress fiber assembly Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
protein phosphorylation The process of introducing a phosphate group on to a protein.
Rho protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
stress fiber assembly The aggregation, arrangement and bonding together of a set of components to form a stress fiber. A stress fiber is a contractile actin filament bundle that consists of short actin filaments with alternating polarity.

27 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9Y616 IRAK3 Interleukin-1 receptor-associated kinase 3 Homo sapiens (Human) PR
Q96S53 TESK2 Dual specificity testis-specific protein kinase 2 Homo sapiens (Human) PR
P53671 LIMK2 LIM domain kinase 2 Homo sapiens (Human) PR
Q8K4B2 Irak3 Interleukin-1 receptor-associated kinase 3 Mus musculus (Mouse) PR
Q8CFA1 Irak2 Interleukin-1 receptor-associated kinase-like 2 Mus musculus (Mouse) PR
O54785 Limk2 LIM domain kinase 2 Mus musculus (Mouse) PR
Q8VCT9 Tesk2 Dual specificity testis-specific protein kinase 2 Mus musculus (Mouse) PR
Q4QQS0 Irak2 Interleukin-1 receptor-associated kinase-like 2 Rattus norvegicus (Rat) PR
Q924U5 Tesk2 Dual specificity testis-specific protein kinase 2 Rattus norvegicus (Rat) PR
Q9ASQ5 CRCK3 Calmodulin-binding receptor-like cytoplasmic kinase 3 Arabidopsis thaliana (Mouse-ear cress) PR
Q8LPS5 SERK5 Somatic embryogenesis receptor kinase 5 Arabidopsis thaliana (Mouse-ear cress) PR
Q8RWW0 ALE2 Receptor-like serine/threonine-protein kinase ALE2 Arabidopsis thaliana (Mouse-ear cress) PR
P93050 BSH Probable LRR receptor-like serine/threonine-protein kinase RKF3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LRP3 At3g17420 Probable receptor-like protein kinase At3g17420 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LSV3 WAKL16 Putative wall-associated receptor kinase-like 16 Arabidopsis thaliana (Mouse-ear cress) PR
Q9STF0 LECRKS3 Receptor like protein kinase S.3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SCZ4 FER Receptor-like protein kinase FERONIA Arabidopsis thaliana (Mouse-ear cress) PR
Q9M342 WAKL15 Wall-associated receptor kinase-like 15 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LYN6 At3g56050 Probable inactive receptor-like protein kinase At3g56050 Arabidopsis thaliana (Mouse-ear cress) PR
Q8VZJ9 CRCK2 Calmodulin-binding receptor-like cytoplasmic kinase 2 Arabidopsis thaliana (Mouse-ear cress) PR
Q0WNY5 WAKL18 Wall-associated receptor kinase-like 18 Arabidopsis thaliana (Mouse-ear cress) PR
P43293 PBL11 Probable serine/threonine-protein kinase PBL11 Arabidopsis thaliana (Mouse-ear cress) PR
Q94C25 At5g20050 Probable receptor-like protein kinase At5g20050 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FLW0 At5g24010 Probable receptor-like protein kinase At5g24010 Arabidopsis thaliana (Mouse-ear cress) PR
Q3E8W4 ANX2 Receptor-like protein kinase ANXUR2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LTC0 PBL19 Probable serine/threonine-protein kinase PBL19 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FIL7 CRCK1 Calmodulin-binding receptor-like cytoplasmic kinase 1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MRLTLLCCTW REERMGEEGS ELPVCASCGQ RIYDGQYLQA LNADWHADCF RCCDCSASLS
70 80 90 100 110 120
HQYYEKDGQL FCKKDYWARY GESCHGCSEQ ITKGLVMVAG ELKYHPECFI CLTCGTFIGD
130 140 150 160 170 180
GDTYTLVEHS KLYCGHCYYQ TVVTPVIEQI LPDSPGSHLP HTVTLVSIPA SSHGKRGLSV
190 200 210 220 230 240
SIDPPHGPPG CGTEHSHTVR VQGVDPGCMS PDVKNSIHVG DRILEINGTP IRNVPLDEID
250 260 270 280 290 300
LLIQETSRLL QLTLEHDPHD TLGHGLGPET SPLSSPAYTP SGEAGSSARQ KPVLRSCSID
310 320 330 340 350 360
RSPGAGSLGS PASQRKDLGR SESLRVVCRP HRIFRPSDLI HGEVLGKGCF GQAIKVTHRE
370 380 390 400 410 420
TGEVMVMKEL IRFDEETQRT FLKEVKVMRC LEHPNVLKFI GVLYKDKRLN FITEYIKGGT
430 440 450 460 470 480
LRGIIKSMDS QYPWSQRVSF AKDIASGMAY LHSMNIIHRD LNSHNCLVRE NKNVVVADFG
490 500 510 520 530 540
LARLMVDEKT QPEGLRSLKK PDRKKRYTVV GNPYWMAPEM INGRSYDEKV DVFSFGIVLC
550 560 570 580 590 600
EIIGRVNADP DYLPRTMDFG LNVRGFLDRY CPPNCPPSFF PITVRCCDLD PEKRPSFVKL
610 620 630 640
EHWLETLRMH LAGHLPLGPQ LEQLDRGFWE TYRRGESGLP AHPEVPD