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

506-532 (Activation loop from InterPro)

Target domain

362-622 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

7 structures for Q99759

Entry ID Method Resolution Chain Position Source
2C60 X-ray 125 A A 37-124 PDB
2JRH NMR - A 42-126 PDB
2O2V X-ray 183 A B 37-124 PDB
2PPH NMR - A 42-126 PDB
4Y5O X-ray 235 A B 1-124 PDB
4YL6 X-ray 210 A B 1-22 PDB
AF-Q99759-F1 Predicted AlphaFoldDB

421 variants for Q99759

Variant ID(s) Position Change Description Diseaes Association Provenance
rs551562207
CA8702286
COSM982645
3 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 8 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400559459
rs1235611832
8 N>S No ClinGen
TOPMed
gnomAD
CA400559535
rs992562802
11 M>L No ClinGen
gnomAD
CA8702289
rs773357327
11 M>T No ClinGen
ExAC
gnomAD
CA292929928
rs992562802
11 M>V No ClinGen
gnomAD
CA400559641
rs1204202373
15 V>E No ClinGen
gnomAD
rs1208634089
CA400559623
15 V>M No ClinGen
TOPMed
CA8702292
rs774406091
20 N>K No ClinGen
ExAC
gnomAD
rs1366845047
CA400559765
21 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs957760333
CA292929969
22 R>C No ClinGen
TOPMed
gnomAD
CA8702293
rs760586639
22 R>H No ClinGen
ExAC
gnomAD
rs1421945598
CA400559783
23 H>Y No ClinGen
gnomAD
CA292930007
rs868728863
24 R>Q No ClinGen
gnomAD
CA8702294
rs199910953
24 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8702295
rs753831759
27 G>A No ClinGen
ExAC
gnomAD
CA400559837
rs1376444271
27 G>R No ClinGen
gnomAD
CA8702296
rs145910072
28 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs983615858
COSM3932693
COSM1750224
CA292930040
32 K>E urinary_tract [Cosmic] No ClinGen
cosmic curated
Ensembl
rs764760347
CA400559903
33 N>S No ClinGen
ExAC
gnomAD
rs764760347
CA8702298
33 N>T No ClinGen
ExAC
gnomAD
rs1277835026
CA400559961
36 T>A No ClinGen
TOPMed
CA400560012
rs1598061463
37 G>V No ClinGen
Ensembl
rs1023242624
CA292930048
38 H>R No ClinGen
TOPMed
TCGA novel 39 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400563453
rs1365121364
43 S>N No ClinGen
TOPMed
rs1352675048
CA400563470
44 D>A No ClinGen
TOPMed
CA8702369
rs372206804
44 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372206804
CA292939775
44 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA292939776
rs1001024067
COSM1750225
COSM3932694
45 V>I Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs747235726
CA8702370
48 K>M No ClinGen
ExAC
gnomAD
CA400564277
rs1230878267
50 E>D No ClinGen
gnomAD
TCGA novel 50 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1273003221
CA400564288
51 H>R No ClinGen
gnomAD
rs149314666
CA8702373
COSM97948
53 G>R upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8702375
rs184639184
55 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA8702376
rs745762268
55 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA400564358
rs1261733963
56 R>* No ClinGen
gnomAD
rs532359502
CA8702403
58 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8702404
rs531230584
59 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs761117004
CA8702406
61 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs761117004
CA400566184
61 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs766920130
CA400566226
62 R>P No ClinGen
ExAC
gnomAD
rs766920130
CA8702407
62 R>Q No ClinGen
ExAC
gnomAD
rs1477555164
CA400566217
62 R>W No ClinGen
gnomAD
CA400566384
rs1568132839
70 E>G No ClinGen
Ensembl
rs991373817
CA292943949
71 H>Y No ClinGen
Ensembl
CA292943951
rs764495536
72 K>R No ClinGen
gnomAD
COSM1214419
CA8702409
rs755109399
75 T>I large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1447424546
CA400566564
79 Q>K No ClinGen
TOPMed
CA400566612
rs919542124
81 L>F No ClinGen
TOPMed
rs919542124
CA292943972
81 L>V No ClinGen
TOPMed
rs756320615
CA8702412
85 Y>N No ClinGen
ExAC
gnomAD
rs1352881305
CA400566729
86 M>R No ClinGen
TOPMed
gnomAD
CA292943983
rs949924451
86 M>V No ClinGen
gnomAD
rs1227087534
CA400566756
87 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8702413
rs778598069
88 N>D No ClinGen
ExAC
gnomAD
CA8702414
rs750283630
88 N>S No ClinGen
ExAC
gnomAD
rs751544538
CA8702435
93 L>Q No ClinGen
ExAC
gnomAD
CA8702436
rs754924253
95 K>R No ClinGen
ExAC
gnomAD
rs1169442799
CA400568978
96 N>S No ClinGen
gnomAD
CA400569006
rs1273730100
97 Q>R No ClinGen
gnomAD
CA400569040
rs1568135703
98 D>E No ClinGen
Ensembl
rs1392458792
CA400569017
98 D>H No ClinGen
gnomAD
CA400569021
rs1392458792
98 D>N No ClinGen
gnomAD
rs780588217
CA8702437
99 D>A No ClinGen
ExAC
gnomAD
TCGA novel 100 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747742093
CA8702438
103 A>V No ClinGen
ExAC
gnomAD
rs769154360
CA8702439
104 I>T No ClinGen
ExAC
gnomAD
CA292948033
rs1051842818
105 D>E No ClinGen
Ensembl
CA8702440
rs777548849
105 D>G No ClinGen
ExAC
gnomAD
CA400569191
rs1416587975
105 D>H No ClinGen
TOPMed
gnomAD
rs748881884
CA8702441
108 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1366117704
CA400569323
110 S>R No ClinGen
gnomAD
TCGA novel 112 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1299321265
CA400569375
112 S>N No ClinGen
gnomAD
CA8702442
rs148711373
113 M>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374735208
CA8702443
116 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1404085613
CA400569555
117 R>K No ClinGen
TOPMed
rs1280706133
CA400569581
CA400569576
118 I>L No ClinGen
gnomAD
rs760060741
CA8702444
118 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1441881728
CA400569645
120 L>Q No ClinGen
gnomAD
rs1250156409
CA400569720
122 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA400569786
rs1197113816
124 D>V No ClinGen
gnomAD
rs1447823821
CA400569881
127 H>P No ClinGen
gnomAD
rs1041649176
CA292906934
128 N>H No ClinGen
TOPMed
gnomAD
rs1208335913
CA400560378
128 N>S No ClinGen
gnomAD
CA400560397
rs1278640447
129 S>G No ClinGen
TOPMed
TCGA novel 129 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1268561080
CA400560401
129 S>N No ClinGen
gnomAD
CA400560394
rs1278640447
129 S>R No ClinGen
TOPMed
rs755708063
CA8702457
131 S>F No ClinGen
ExAC
gnomAD
rs141438505
CA8702459
133 H>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141438505
CA8702460
133 H>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141438505
CA8702458
133 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8702461
rs778517747
134 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 138 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 138 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1162103729
CA400560739
139 Q>K No ClinGen
TOPMed
CA400560748
rs1474680011
139 Q>P No ClinGen
TOPMed
rs776126405
CA8702464
140 V>M No ClinGen
ExAC
gnomAD
rs568640776
CA292906991
141 R>Q No ClinGen
gnomAD
rs761104061
CA8702465
141 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8702466
rs768781864
142 I>L No ClinGen
ExAC
gnomAD
CA8702467
rs374801462
143 K>E No ClinGen
ESP
ExAC
gnomAD
rs35028835
CA292907019
144 A>G No ClinGen
Ensembl
rs1195812994
CA400560820
144 A>T No ClinGen
TOPMed
rs1427164192
CA400560859
146 Q>P No ClinGen
TOPMed
CA8702469
rs139576613
148 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA292907042
rs139576613
148 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1290352112
CA400560921
148 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 149 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 150 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773535213
CA8702470
151 I>V No ClinGen
ExAC
gnomAD
CA8702472
rs201709115
152 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8702471
rs759442484
152 N>Y No ClinGen
ExAC
gnomAD
rs1489562470
CA400561017
154 I>T No ClinGen
gnomAD
rs752685930
CA400561058
157 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA8702476
rs763617586
157 P>H No ClinGen
ExAC
gnomAD
CA8702475
rs763617586
157 P>L No ClinGen
ExAC
gnomAD
rs752685930
CA8702474
157 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8702473
rs752685930
157 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA292907116
rs1022609171
158 P>L No ClinGen
gnomAD
rs1022609171
CA400561063
158 P>R No ClinGen
gnomAD
rs745509910
CA8702479
158 P>S No ClinGen
ExAC
gnomAD
rs1369849994
CA400561065
159 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1208446998 159 E>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1455997663
CA400561092
160 P>H No ClinGen
gnomAD
CA292907147
rs768845358
161 R>G No ClinGen
ExAC
gnomAD
CA400561106
rs1370920864
161 R>T No ClinGen
gnomAD
rs1306078389
CA400561141
163 R>S No ClinGen
gnomAD
CA400561220
rs367914417
164 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA292907174
rs928510869
165 L>R No ClinGen
gnomAD
CA8702485
rs748275986
166 S>F No ClinGen
ExAC
gnomAD
rs554729342
CA8702500
170 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs755335974
CA8702502
171 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA8702503
rs374807460
172 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770006698
CA8702504
172 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8702505
rs777960277
175 S>N No ClinGen
ExAC
gnomAD
rs749547349
CA8702506
COSM1385173
178 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA400564848
rs1248289487
179 P>S No ClinGen
gnomAD
CA400564896
rs1186452717
181 Y>C No ClinGen
gnomAD
CA400564910
rs1280412757
182 V>I No ClinGen
gnomAD
CA400564971
rs774603132
185 R>L No ClinGen
ExAC
gnomAD
CA8702508
rs774603132
185 R>Q No ClinGen
ExAC
gnomAD
CA400564989
rs1598113098
187 Q>E No ClinGen
Ensembl
rs745343360
CA292917150
187 Q>R No ClinGen
Ensembl
rs1057241127
CA292917153
189 I>F No ClinGen
Ensembl
rs1336098078
CA400565084
192 Q>H No ClinGen
gnomAD
CA400565126
rs1598113143
194 S>A No ClinGen
Ensembl
CA292917158
rs866349133
197 S>N No ClinGen
Ensembl
TCGA novel 203 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs547108714
CA8702511
208 T>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1310911007
CA400565498
209 S>G No ClinGen
gnomAD
rs1209421331
CA400565516
210 E>K No ClinGen
gnomAD
rs749850994
CA8702514
211 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA8702529
rs542260882
213 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1321884842
CA400565990
216 P>L No ClinGen
gnomAD
TCGA novel 221 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778266515
CA292919466
223 S>T No ClinGen
Ensembl
rs1490181764
CA400566045
224 L>F No ClinGen
gnomAD
rs748109392
CA8702531
225 S>P No ClinGen
ExAC
gnomAD
CA400566058
rs1252675599
227 S>G No ClinGen
gnomAD
rs1252675599
CA400566057
227 S>R No ClinGen
gnomAD
rs1028106301
CA292919493
232 D>N No ClinGen
Ensembl
rs1407549847
CA400566140
233 R>T No ClinGen
gnomAD
CA400566179
rs1314599907
235 A>G No ClinGen
TOPMed
rs747980360
CA400567211
241 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs747980360
CA8702550
241 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8702549
rs201427854
241 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1327667606
COSM982649
CA400567265
244 R>* endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs769629755
CA8702551
244 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1214307160
CA400567305
246 S>Y No ClinGen
gnomAD
rs1282098667
CA400567323
247 R>C No ClinGen
TOPMed
gnomAD
rs1282098667
CA400567319
247 R>G No ClinGen
TOPMed
gnomAD
rs773083246
CA8702552
247 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 247 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770352176
CA8702554
252 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs773871394
CA400567462
253 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA400567466
rs1195146315
254 N>D No ClinGen
gnomAD
rs1272441798
CA400567481
255 R>K No ClinGen
TOPMed
gnomAD
rs1272441798
CA400567482
255 R>T No ClinGen
TOPMed
gnomAD
rs759095415
CA8702556
256 Q>E No ClinGen
ExAC
gnomAD
CA8702558
rs775275166
257 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA8702557
rs767317282
257 E>G No ClinGen
ExAC
gnomAD
CA400567504
rs767317282
257 E>V No ClinGen
ExAC
gnomAD
CA8702559
rs761176612
258 Y>C No ClinGen
ExAC
gnomAD
rs200364244
CA8702571
260 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1382490890
CA400567545
260 D>N No ClinGen
TOPMed
CA292921694
rs200364244
260 D>V No ClinGen
1000Genomes
ExAC
gnomAD
CA400567636
rs146112270
261 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8702573
rs371194292
261 R>Q No ClinGen
ESP
ExAC
gnomAD
rs146112270
CA8702572
261 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs901924145
CA292921717
262 E>A No ClinGen
Ensembl
rs771693753
CA8702574
266 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8702576
rs760333977
268 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs139920227
CA400567847
270 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139920227
CA400567843
270 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139920227
CA8702577
270 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8702578
rs777002011
271 K>R No ClinGen
ExAC
gnomAD
rs1598122037
CA400567954
275 Y>S No ClinGen
Ensembl
rs763081777
CA8702582
277 R>Q No ClinGen
ExAC
gnomAD
CA400567991
rs1173724169
COSM245573
277 R>W Variant assessed as Somatic; 0.0 impact. prostate haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA400568006
rs1457492910
278 R>C No ClinGen
TOPMed
gnomAD
rs368873892
CA8702583
COSM982651
278 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs368873892
CA400568016
278 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1050901169
CA292921816
280 H>N No ClinGen
TOPMed
RCV000885411
rs36109904
CA8702585
VAR_040685
281 V>M No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs370717303
CA8702586
283 V>A No ClinGen
ESP
ExAC
gnomAD
CA400568115
rs1323902778
283 V>M No ClinGen
gnomAD
CA8702588
rs753706365
284 H>Y No ClinGen
ExAC
gnomAD
CA8702589
rs756997078
286 K>E No ClinGen
ExAC
gnomAD
rs1011855480
CA292921846
286 K>R No ClinGen
TOPMed
CA292921862
rs1023626299
288 Y>H No ClinGen
Ensembl
CA8702609
rs750413982
292 R>G No ClinGen
ExAC
gnomAD
rs1187774612
CA400569294
292 R>S No ClinGen
gnomAD
TCGA novel 293 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1422533446
CA400569357
295 F>L No ClinGen
gnomAD
rs149846705
CA8702611
297 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8702613
COSM1189535
rs754446404
299 R>Q lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8702612
rs370207376
COSM982657
299 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747700437
CA8702615
300 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs199571831
CA8702616
300 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199571831
CA400569501
300 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400569655
rs1598123051
307 T>P No ClinGen
Ensembl
rs773528129
CA8702617
308 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs749817590
CA8702618
309 V>L No ClinGen
ExAC
gnomAD
rs771477615
CA8702619
311 S>P No ClinGen
ExAC
gnomAD
rs1249153560
CA400569776
313 R>C No ClinGen
TOPMed
gnomAD
rs994733913
CA292922413
313 R>H No ClinGen
TOPMed
gnomAD
rs994733913
CA400569798
313 R>L No ClinGen
TOPMed
gnomAD
rs1026101631
CA292922422
316 S>N No ClinGen
Ensembl
CA400569970
CA8702623
rs775783118
320 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA8702622
rs767436855
320 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400569998
rs1465923230
322 M>T No ClinGen
TOPMed
gnomAD
rs372390229
CA8702624
322 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1451311071
CA400570021
323 G>D No ClinGen
gnomAD
rs1390549871
CA400570007
323 G>S No ClinGen
gnomAD
rs34042309
VAR_037275
CA292922480
325 A>G No ClinGen
UniProt
dbSNP
gnomAD
rs34042309
CA400570051
325 A>V No ClinGen
gnomAD
rs1054395177
CA292922490
326 V>M No ClinGen
TOPMed
rs964350175
CA292922491
328 Y>H No ClinGen
TOPMed
CA8702625
rs765143147
330 D>E No ClinGen
ExAC
gnomAD
rs915797254
CA292922516
331 P>H No ClinGen
TOPMed
rs750289116
CA400570107
331 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs750289116
CA8702626
331 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA8702628
rs766496256
332 R>C Variant assessed as Somatic; 4.656e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA292922534
rs372179093
332 R>H No ClinGen
TOPMed
rs869233786 332 R>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751441762
CA400570121
334 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8702629
rs751441762
334 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs754533496
CA8702630
334 R>H No ClinGen
ExAC
gnomAD
rs747867118
CA8702632
336 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8702631
rs780502633
336 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs755715664
CA8702633
337 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs201458544
CA8702634
338 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771271392
CA8702636
339 D>N No ClinGen
ExAC
gnomAD
rs1202619222
CA400570198
340 S>G No ClinGen
TOPMed
gnomAD
rs907003390
CA292922609
341 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1184509514
CA400570236
342 N>D No ClinGen
gnomAD
rs1336289198
CA400570247
342 N>S No ClinGen
gnomAD
CA400570272
rs1244157374
344 L>V No ClinGen
TOPMed
CA8702639
rs746292640
348 E>Q No ClinGen
ExAC
gnomAD
CA400570361
rs1176968473
349 R>K No ClinGen
gnomAD
TCGA novel 350 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8702640
rs772222539
350 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1598123413
CA400570425
353 T>S No ClinGen
Ensembl
CA8702658
rs546447902
357 S>I No ClinGen
1000Genomes
ExAC
gnomAD
rs747155850
CA8702659
357 S>R No ClinGen
ExAC
CA292923097
rs997234056
361 N>S No ClinGen
gnomAD
rs1283341292
CA400570672
363 R>C No ClinGen
gnomAD
CA8702660
rs768847997
363 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400570687
rs764375472
364 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8702662
rs764375472
364 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs777009629
CA8702661
364 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA400570715
rs1568155526
366 K>R No ClinGen
Ensembl
rs148821588
CA8702663
367 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1598124280
CA400570776
370 Q>R No ClinGen
Ensembl
TCGA novel 371 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 371 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8702665
rs759352927
372 A>G No ClinGen
ExAC
gnomAD
rs1470540654
CA400570834
374 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA400570852
rs1175671702
375 R>G No ClinGen
gnomAD
CA400570865
rs1407480712
375 R>S No ClinGen
TOPMed
gnomAD
CA400570881
rs1598124343
376 V>G No ClinGen
Ensembl
rs1165798317
CA400570891
377 Y>C No ClinGen
gnomAD
CA292923151
rs901861960
382 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs763526019
CA8702669
384 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs756808678
CA8702671
COSM1385174
386 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400571049
rs1379366668
386 R>H No ClinGen
gnomAD
CA400571047
rs1379366668
386 R>L No ClinGen
gnomAD
rs1568155631
CA400571070
388 L>F No ClinGen
Ensembl
rs1247901635
CA400571087
389 A>V No ClinGen
gnomAD
CA8702673
rs375031748
392 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1417521726
CA400571134
393 V>I No ClinGen
TOPMed
rs201376513
CA8702675
397 P>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 398 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768864371
CA8702677
399 S>G No ClinGen
ExAC
rs1232535625
CA400571227
400 P>A No ClinGen
gnomAD
rs769961099
CA8702680
402 T>I No ClinGen
ExAC
gnomAD
rs1453992625
CA400571919
411 C>R No ClinGen
gnomAD
rs1400087576
CA400571942
412 E>G No ClinGen
gnomAD
CA400571932
rs1382486715
412 E>K No ClinGen
gnomAD
CA400571984
rs1347255762
414 Q>H No ClinGen
gnomAD
TCGA novel 417 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400572058
rs1281446200
419 L>S No ClinGen
gnomAD
rs777869698
CA8702716
420 Q>E No ClinGen
ExAC
gnomAD
CA400572073
rs1281681903
420 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8702717
rs749494387
421 H>N No ClinGen
ExAC
gnomAD
rs746868574
CA8702720
423 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA400572134
rs1219703682
COSM982661
423 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1267542104
CA400572142
424 I>V No ClinGen
TOPMed
gnomAD
rs776560365
CA8702722
425 V>L No ClinGen
ExAC
gnomAD
CA8702723
rs776560365
425 V>M No ClinGen
ExAC
gnomAD
CA400572223
rs1369913003
428 Y>C No ClinGen
TOPMed
CA400572238
rs1434017021
429 G>C No ClinGen
TOPMed
CA292923742
rs1006020517
429 G>D No ClinGen
gnomAD
TCGA novel 429 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8702726
rs762349103
432 R>Q No ClinGen
ExAC
gnomAD
rs1390067438
CA400572338
433 D>E No ClinGen
gnomAD
CA8702727
rs766174733
433 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs368232481
CA8702728
434 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368232481
CA8702729
434 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371837391
CA8702730
434 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA292923812
VAR_037276
rs9910858
435 A>G No ClinGen
UniProt
Ensembl
dbSNP
rs376092350
CA8702732
435 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400572396
rs1311300884
436 E>K No ClinGen
Ensembl
rs1316165392
CA400572440
437 K>N No ClinGen
TOPMed
gnomAD
CA400572432
rs1367378410
437 K>R No ClinGen
gnomAD
rs61737830
CA8702734
438 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 439 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8702735
rs757320092
439 L>V No ClinGen
ExAC
gnomAD
rs1480692639
CA400572492
441 I>V No ClinGen
gnomAD
CA400572537
rs1488340717
443 M>V No ClinGen
TOPMed
CA8702736
rs779162078
446 M>I No ClinGen
ExAC
gnomAD
rs1477623445
CA400572853
451 V>L No ClinGen
TOPMed
CA400572887
rs1209246033
453 D>N No ClinGen
gnomAD
CA8702765
rs147563538
464 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8702768
rs761154998
465 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs761154998
CA8702767
465 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1346123153
CA400573186
466 T>I No ClinGen
gnomAD
rs577384322
CA8702769
467 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 471 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1405033518
CA400573292
473 I>T No ClinGen
TOPMed
gnomAD
CA8702773
rs762993883
477 M>I No ClinGen
ExAC
gnomAD
CA8702774
rs182553269
478 S>F No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 479 Y>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA292924301
rs367720019
482 S>G No ClinGen
Ensembl
TCGA novel 482 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776940651
CA8702777
484 M>I No ClinGen
ExAC
gnomAD
CA8702776
rs755952221
484 M>T No ClinGen
ExAC
gnomAD
rs1329731681
CA400573469
484 M>V No ClinGen
TOPMed
CA8702778
rs369531094
485 I>T No ClinGen
ESP
ExAC
gnomAD
CA8702780
rs77866388
488 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs757306885
CA8702779
488 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 510 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400574285
rs1355988216
512 K>R No ClinGen
gnomAD
CA292924673
rs992780814
513 R>C No ClinGen
TOPMed
gnomAD
rs746700251
CA8702804
515 Q>R No ClinGen
ExAC
gnomAD
rs1215446675
CA400574392
516 T>M No ClinGen
TOPMed
CA292924724
rs1009976119
519 M>I No ClinGen
Ensembl
CA8702806
rs144796639
519 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400574576
rs1226725135
520 S>L No ClinGen
TOPMed
CA8702809
rs773722519
522 T>M No ClinGen
ExAC
gnomAD
rs771075974
CA8702811
523 G>C No ClinGen
ExAC
gnomAD
rs200968266
CA8702812
524 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368376876
CA8702813
525 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368376876
CA400574726
525 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772489241
CA8702814
525 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA400574751
rs772489241
525 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs761709890
CA8702816
527 V>I No ClinGen
ExAC
gnomAD
CA8702818
rs750413926
530 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA400574918
rs750413926
530 T>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 533 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762747364
CA8702819
540 S>C No ClinGen
ExAC
gnomAD
rs202160737
CA292924790
541 G>S No ClinGen
1000Genomes
rs1470835367
CA400575209
542 E>K No ClinGen
TOPMed
gnomAD
CA8702821
rs751073898
544 Y>C No ClinGen
ExAC
gnomAD
CA292924796
rs1001042867
544 Y>H No ClinGen
Ensembl
TCGA novel 545 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754509552
CA8702822
547 K>R No ClinGen
ExAC
gnomAD
CA292925947
rs750420240
554 G>A No ClinGen
Ensembl
rs759061216
CA8702841
556 T>S No ClinGen
ExAC
gnomAD
rs150374712
CA8702843
557 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400576693
rs1487590679
562 T>A No ClinGen
gnomAD
CA400576734
rs1568158365
CA400576735
564 K>N No ClinGen
Ensembl
TCGA novel 566 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1598128991
CA400576897
573 M>R No ClinGen
Ensembl
rs1598129009
CA400576941
575 A>G No ClinGen
Ensembl
rs757626698
CA8702848
575 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1298185299
CA400576953
576 I>V No ClinGen
TOPMed
CA400577001
rs1160019670
578 K>R No ClinGen
gnomAD
rs1598129032
CA400577052
581 T>P No ClinGen
Ensembl
CA8702849
rs779301433
583 P>L No ClinGen
ExAC
gnomAD
CA8702850
rs779301433
583 P>R No ClinGen
ExAC
gnomAD
CA8702851
rs772305243
585 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs889483840
CA292926006
587 Q>H No ClinGen
TOPMed
gnomAD
rs747061434
CA8702853
587 Q>R No ClinGen
ExAC
gnomAD
CA400577283
rs1328686600
591 H>R No ClinGen
TOPMed
CA400577301
rs1435697933
592 I>M No ClinGen
TOPMed
rs769042361
CA8702854
595 H>D No ClinGen
ExAC
gnomAD
rs1330673530
CA400577335
595 H>R No ClinGen
TOPMed
gnomAD
rs776910307
CA8702855
596 G>S No ClinGen
ExAC
gnomAD
rs1352214077
COSM175771
CA400577358
597 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1311899564
COSM48529
CA400577356
597 R>W lung large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA400577366
rs1240017475
598 D>H No ClinGen
TOPMed
gnomAD
rs549447984
CA8702856
602 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs770706062
CA8702857
602 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770706062
CA400577420
602 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8702858
rs774161042
603 I>V No ClinGen
ExAC
gnomAD
TCGA novel 604 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400577454
rs1266240817
605 V>M No ClinGen
gnomAD
rs61737831
CA8702859
608 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400577505
rs61737831
608 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8702860
COSM1196206
rs201464511
608 R>H lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775019440
CA8702861
609 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1445489020
CA400577599
613 A>T No ClinGen
gnomAD
CA8702863
rs200161650
622 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs142840047
CA8702864
624 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1333837448
CA400577861
625 M>I No ClinGen
gnomAD
rs957850875
CA292926058
625 M>T No ClinGen
TOPMed
gnomAD

No associated diseases with Q99759

4 regional properties for Q99759

Type Name Position InterPro Accession
domain Helicase, C-terminal 261 - 422 IPR001650
domain DEAD/DEAH box helicase domain 70 - 235 IPR011545
domain Helicase superfamily 1/2, ATP-binding domain 64 - 265 IPR014001
domain RNA helicase, DEAD-box type, Q motif 45 - 73 IPR014014

Functions

Description
EC Number 2.7.11.25 Protein-serine/threonine kinases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 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.

6 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
MAP kinase kinase kinase activity Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases.
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.

9 GO annotations of biological process

Name Definition
blood vessel development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood.
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.
MAPK cascade An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
negative regulation of cellular senescence Any process that stops, prevents or reduces the frequency, rate or extent of cellular senescence.
positive regulation of cell migration involved in sprouting angiogenesis Any process that increases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis.
positive regulation of cell proliferation in bone marrow A process that activates or increases the frequency, rate or extent of cell proliferation in the bone marrow.
positive regulation of I-kappaB kinase/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of p38MAPK cascade Any process that activates or increases the frequency, rate or extent of p38MAPK cascade.
protein autophosphorylation The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P51957 NEK4 Serine/threonine-protein kinase Nek4 Homo sapiens (Human) PR
Q9Y3S1 WNK2 Serine/threonine-protein kinase WNK2 Homo sapiens (Human) SS
Q9UHY1 NRBP1 Nuclear receptor-binding protein Homo sapiens (Human) PR
Q9H4A3 WNK1 Serine/threonine-protein kinase WNK1 Homo sapiens (Human) SS
Q9BYP7 WNK3 Serine/threonine-protein kinase WNK3 Homo sapiens (Human) SS
Q9Y2U5 MAP3K2 Mitogen-activated protein kinase kinase kinase 2 Homo sapiens (Human) PR
Q61083 Map3k2 Mitogen-activated protein kinase kinase kinase 2 Mus musculus (Mouse) PR
Q61084 Map3k3 Mitogen-activated protein kinase kinase kinase 3 Mus musculus (Mouse) PR
O22042 ANP3 Mitogen-activated protein kinase kinase kinase 3 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MDEQEALNSI MNDLVALQMN RRHRMPGYET MKNKDTGHSN RQSDVRIKFE HNGERRIIAF
70 80 90 100 110 120
SRPVKYEDVE HKVTTVFGQP LDLHYMNNEL SILLKNQDDL DKAIDILDRS SSMKSLRILL
130 140 150 160 170 180
LSQDRNHNSS SPHSGVSRQV RIKASQSAGD INTIYQPPEP RSRHLSVSSQ NPGRSSPPPG
190 200 210 220 230 240
YVPERQQHIA RQGSYTSINS EGEFIPETSE QCMLDPLSSA ENSLSGSCQS LDRSADSPSF
250 260 270 280 290 300
RKSRMSRAQS FPDNRQEYSD RETQLYDKGV KGGTYPRRYH VSVHHKDYSD GRRTFPRIRR
310 320 330 340 350 360
HQGNLFTLVP SSRSLSTNGE NMGLAVQYLD PRGRLRSADS ENALSVQERN VPTKSPSAPI
370 380 390 400 410 420
NWRRGKLLGQ GAFGRVYLCY DVDTGRELAS KQVQFDPDSP ETSKEVSALE CEIQLLKNLQ
430 440 450 460 470 480
HERIVQYYGC LRDRAEKTLT IFMEYMPGGS VKDQLKAYGA LTESVTRKYT RQILEGMSYL
490 500 510 520 530 540
HSNMIVHRDI KGANILRDSA GNVKLGDFGA SKRLQTICMS GTGMRSVTGT PYWMSPEVIS
550 560 570 580 590 600
GEGYGRKADV WSLGCTVVEM LTEKPPWAEY EAMAAIFKIA TQPTNPQLPS HISEHGRDFL
610 620
RRIFVEARQR PSAEELLTHH FAQLMY