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

536-556 (Activation loop from InterPro)

Target domain

394-651 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for Q8N568

Entry ID Method Resolution Chain Position Source
AF-Q8N568-F1 Predicted AlphaFoldDB

602 variants for Q8N568

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1449699082
CA358600991
2 A>D No ClinGen
TOPMed
CA358600990
rs1282524197
2 A>S No ClinGen
gnomAD
CA358600988
rs1282524197
2 A>T No ClinGen
gnomAD
rs755348043
CA3100561
3 S>T No ClinGen
ExAC
gnomAD
rs1225100431
CA358601002
4 T>A No ClinGen
gnomAD
CA358601007
rs1338911711
5 R>G No ClinGen
gnomAD
rs768056978
CA3100562
5 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs776787423
CA3100563
6 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs904094621
CA108295433
6 S>R No ClinGen
Ensembl
CA358601044
rs1247262086
10 E>A No ClinGen
TOPMed
rs75348202
CA108295436
11 H>N No ClinGen
Ensembl
rs1267376340
CA358601050
11 H>R No ClinGen
gnomAD
CA3100566
rs529183260
15 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358601079
rs1372899313
15 R>W No ClinGen
TOPMed
gnomAD
CA3100567
rs757476284
16 D>E No ClinGen
ExAC
gnomAD
rs1295480513
CA358601094
17 K>R No ClinGen
TOPMed
rs779169738
CA3100568
18 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1213894281
CA358601108
19 P>L No ClinGen
gnomAD
CA358601105
rs1580455741
19 P>S No ClinGen
Ensembl
CA358601111
rs1302047947
20 R>Q No ClinGen
gnomAD
CA358601118
rs1406698185
21 P>L No ClinGen
gnomAD
CA358601116
rs1363571301
21 P>S No ClinGen
gnomAD
rs776517388
CA3100571
22 G>A No ClinGen
ExAC
gnomAD
rs776517388
CA358601123
22 G>E No ClinGen
ExAC
gnomAD
rs776517388
CA358601124
22 G>V No ClinGen
ExAC
gnomAD
CA3100572
rs748108035
23 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs769785936
CA3100573
24 R>L No ClinGen
ExAC
gnomAD
CA3100574
rs762000752
27 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA108295453
rs762000752
27 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA108295456
rs983277779
27 A>V No ClinGen
TOPMed
gnomAD
CA358601151
rs1447834920
28 P>S No ClinGen
gnomAD
CA358601157
rs1362136390
29 S>G No ClinGen
TOPMed
gnomAD
rs1210981557
CA358601166
30 S>P No ClinGen
gnomAD
CA108295461
rs1016140363
32 G>A No ClinGen
TOPMed
gnomAD
rs774023752
CA3100577
32 G>R No ClinGen
ExAC
gnomAD
CA3100579
rs200222469
33 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200222469
CA3100578
33 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358601186
rs1234394297
34 S>C No ClinGen
TOPMed
rs1234394297
CA358601185
34 S>G No ClinGen
TOPMed
CA358601187
rs1243473807
34 S>N No ClinGen
gnomAD
CA358601209
rs201132155
37 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3100580
rs201132155
37 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358601216
rs1162300200
38 G>D No ClinGen
gnomAD
rs1382891846
CA358601221
39 P>A No ClinGen
TOPMed
gnomAD
CA358601224
rs1312786518
39 P>L No ClinGen
TOPMed
rs1382891846
CA358601220
39 P>S No ClinGen
TOPMed
gnomAD
rs1163751636
CA358601229
40 K>R No ClinGen
gnomAD
rs756677344
CA3100581
41 G>V No ClinGen
ExAC
gnomAD
CA358601239
rs1380308641
42 N>D No ClinGen
gnomAD
rs1320113442
CA358601248
43 G>R No ClinGen
gnomAD
TCGA novel 44 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3100582
rs764568666
44 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA108295480
rs548654953
45 I>M No ClinGen
ExAC
gnomAD
TCGA novel 45 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs557293514
CA358601276
47 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358601278
rs1289350050
48 P>A No ClinGen
TOPMed
rs758634571
CA3100587
48 P>R No ClinGen
ExAC
CA358601284
rs1349055211
49 A>E No ClinGen
TOPMed
CA108295486
rs992144412
49 A>T No ClinGen
TOPMed
CA358601285
rs1349055211
49 A>V No ClinGen
TOPMed
CA358601288
rs1245661831
50 H>D No ClinGen
gnomAD
rs1260645007
CA358601290
50 H>P No ClinGen
gnomAD
TCGA novel 50 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1449794617
CA358601306
52 A>G No ClinGen
TOPMed
CA3100588
rs781137720
52 A>T No ClinGen
ExAC
gnomAD
CA358601315
rs1269163833
53 H>Q No ClinGen
gnomAD
CA358601331
rs1465034689
55 S>R No ClinGen
gnomAD
TCGA novel 56 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1359171378
CA358601344
57 Y>C No ClinGen
TOPMed
rs945497145
CA108295492
59 T>R No ClinGen
Ensembl
rs1580456210
CA358601373
60 R>W No ClinGen
Ensembl
CA358601391
rs1182624672
61 T>I No ClinGen
TOPMed
gnomAD
rs1182624672
CA358601389
61 T>S No ClinGen
TOPMed
gnomAD
CA108295499
rs925434878
65 L>V No ClinGen
Ensembl
rs1451562829
CA358601471
67 S>L No ClinGen
TOPMed
gnomAD
rs1451562829
CA358601470
67 S>W No ClinGen
TOPMed
gnomAD
rs936842748
CA108295502
68 E>* No ClinGen
Ensembl
CA3100593
rs770509809
69 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA3100595
rs759242411
70 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs775886856
CA3100597
70 K>N No ClinGen
ExAC
gnomAD
rs771649250
CA3100596
70 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA3100599
rs764621558
74 A>T No ClinGen
ExAC
gnomAD
TCGA novel 75 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358601566
rs1289318927
75 R>S No ClinGen
TOPMed
gnomAD
CA3100600
rs754396915
76 F>S No ClinGen
ExAC
gnomAD
rs1260865531
CA358601613
78 R>L No ClinGen
gnomAD
TCGA novel 80 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358601634
rs1249217673
80 G>R No ClinGen
gnomAD
rs750400614
CA3100603
82 R>C No ClinGen
ExAC
gnomAD
rs758759273
CA3100604
82 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA3100605
rs780411948
84 F>L No ClinGen
ExAC
gnomAD
CA358601697
rs1408492545
85 K>E No ClinGen
TOPMed
gnomAD
rs910892154
CA108295518
85 K>N No ClinGen
TOPMed
gnomAD
rs755942679
CA3100607
89 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA358601770
rs1445229184
92 S>C No ClinGen
TOPMed
CA3100609
rs749274170
92 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1345515495
CA358601778
93 S>R No ClinGen
gnomAD
rs963742918
CA108295525
94 D>E No ClinGen
TOPMed
gnomAD
rs1580456529
CA358601782
94 D>H No ClinGen
Ensembl
CA3100610
rs770718037
95 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs922386079
CA108295528
96 F>L No ClinGen
TOPMed
rs778492434
CA3100611
97 R>L No ClinGen
ExAC
rs1313517938
CA358601806
98 S>F No ClinGen
TOPMed
gnomAD
CA358601807
rs1313517938
98 S>Y No ClinGen
TOPMed
gnomAD
CA3100612
CA108295533
rs61744627
99 F>L No ClinGen
ExAC
gnomAD
CA3100613
rs368816953
100 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775088822
CA358601825
101 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA358601826
rs775088822
101 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs775088822
CA3100614
101 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA358601828
rs1373107568
102 L>V No ClinGen
gnomAD
rs1048401506
CA108295546
103 L>V No ClinGen
TOPMed
rs765656766
CA358601839
104 I>K No ClinGen
ExAC
gnomAD
rs776802398
CA3100618
104 I>L No ClinGen
ExAC
gnomAD
CA108295550
rs908084539
104 I>M No ClinGen
TOPMed
rs765656766
CA3100619
104 I>R No ClinGen
ExAC
gnomAD
rs776802398
CA3100617
104 I>V No ClinGen
ExAC
gnomAD
rs1433934938
CA358601856
107 T>A No ClinGen
gnomAD
CA358601862
rs867719384
108 R>C No ClinGen
gnomAD
CA358601863
rs1431705908
108 R>H No ClinGen
gnomAD
CA108295552
rs867719384
108 R>S No ClinGen
gnomAD
TCGA novel 111 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766747944
CA3100622
111 S>L No ClinGen
ExAC
gnomAD
CA3100624
rs755206301
113 N>D No ClinGen
ExAC
gnomAD
rs1294400122
CA358601893
113 N>S No ClinGen
TOPMed
gnomAD
rs1229894160
CA358601898
114 V>L No ClinGen
gnomAD
rs1229894160
CA358601897
114 V>M No ClinGen
gnomAD
CA3100625
rs777641002
115 N>K No ClinGen
ExAC
gnomAD
rs1004596995
CA108295565
116 L>M No ClinGen
TOPMed
rs753513344
CA3100626
117 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1220187825
CA358601914
117 P>S No ClinGen
gnomAD
rs757288941
CA3100627
118 Q>R No ClinGen
ExAC
gnomAD
rs56327537
CA3100628
VAR_040441
119 G>C No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs1259902391
CA358601928
119 G>V No ClinGen
gnomAD
CA358601948
rs1451578876
122 T>I No ClinGen
gnomAD
rs1282504473
CA358601943
122 T>S No ClinGen
gnomAD
CA358601955
rs1384719865
123 I>M No ClinGen
gnomAD
rs1580456923
CA358601950
123 I>V No ClinGen
Ensembl
rs757931419
CA3100630
124 Y>C No ClinGen
ExAC
gnomAD
rs1446774909
CA358601957
124 Y>H No ClinGen
gnomAD
CA3100631
rs779486736
125 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1351040511
CA358601982
126 I>L No ClinGen
gnomAD
CA358602019
rs1362496562
128 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3100632
rs746676479
130 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1034252691
CA108295583
131 K>* No ClinGen
Ensembl
CA358602127
rs1291935539
135 L>P No ClinGen
gnomAD
CA3100636
rs770383233
136 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA3100635
rs748446922
136 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA108295595
rs895940713
140 E>K No ClinGen
TOPMed
CA358602191
rs895940713
140 E>Q No ClinGen
TOPMed
rs759524875
CA3100659
142 E>D No ClinGen
ExAC
gnomAD
CA358605644
rs1399832976
142 E>K No ClinGen
gnomAD
CA3100661
rs767818184
145 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3100660
rs767818184
145 V>M No ClinGen
ExAC
gnomAD
CA358605845
rs1310932057
149 N>K No ClinGen
TOPMed
CA358605836
rs1279660722
149 N>S No ClinGen
gnomAD
rs750149780
CA3100664
150 E>V No ClinGen
ExAC
gnomAD
rs758395866
CA3100665
151 P>T No ClinGen
ExAC
gnomAD
COSM1051916
COSM1051917
rs1230886415
CA358605897
153 R>C Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
COSM294297
CA3100666
rs766290066
COSM294298
153 R>H Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs112792769
CA108301384
154 K>R No ClinGen
Ensembl
rs1034357032
CA108301395
156 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 157 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3100670
rs752315954
158 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 159 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 160 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3100672
rs778290244
160 N>S No ClinGen
ExAC
gnomAD
rs111756382
CA108301400
161 I>T No ClinGen
Ensembl
CA3100673
rs749667854
162 N>H No ClinGen
ExAC
gnomAD
rs771628293
CA3100674
163 P>L No ClinGen
ExAC
gnomAD
rs779682975
CA108301405
164 N>D No ClinGen
Ensembl
rs779527956
CA3100675
165 W>S No ClinGen
ExAC
gnomAD
CA3100676
rs746342475
169 I>T No ClinGen
ExAC
gnomAD
CA358606246
rs1438390423
171 G>C No ClinGen
gnomAD
CA358606296
rs1162180725
174 S>F No ClinGen
TOPMed
CA3100677
rs538939072
174 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA108301419
rs982859820
175 R>* No ClinGen
TOPMed
CA358606299
rs982859820
175 R>G No ClinGen
TOPMed
rs775578648
CA3100678
175 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs142526243
CA3100679
176 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358606333
rs1343454177
177 L>P No ClinGen
gnomAD
CA358606343
rs1222434814
178 A>T No ClinGen
gnomAD
CA3100682
rs762713560
178 A>V No ClinGen
ExAC
gnomAD
CA3100684
rs751482957
180 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs150954251
CA3100685
181 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3100686
rs766952044
183 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA3100687
rs140418434
185 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3100688
rs755792429
186 E>G No ClinGen
ExAC
gnomAD
rs777559495
CA3100689
187 V>A No ClinGen
ExAC
gnomAD
CA3100691
rs369802977
188 K>R No ClinGen
ESP
ExAC
gnomAD
rs746372275
CA3100693
192 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 193 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772559740
CA3100694
194 I>M No ClinGen
ExAC
gnomAD
rs1210739288
CA358598695
200 T>A No ClinGen
gnomAD
CA3100697
rs768915804
203 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776801902
CA3100698
204 S>N No ClinGen
ExAC
gnomAD
rs776801902
CA358598720
204 S>T No ClinGen
ExAC
gnomAD
rs868679057
CA108301459
211 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA3100702
rs759398144
VAR_073158
212 V>M found in a patient with hereditary motor and sensory neuropathy; unknown pathological significance [UniProt] No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs752209460
CA3100704
213 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs767489159
CA3100703
213 R>W No ClinGen
ExAC
gnomAD
CA3100705
rs760243978
214 I>V No ClinGen
ExAC
gnomAD
TCGA novel 218 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3100708
rs756910394
221 A>D No ClinGen
ExAC
gnomAD
rs753563425
CA3100707
221 A>T No ClinGen
ExAC
gnomAD
CA3100709
rs765521450
222 H>L No ClinGen
ExAC
gnomAD
rs765521450
CA358599208
222 H>R No ClinGen
ExAC
gnomAD
CA108301474
rs925652343
226 Q>H No ClinGen
Ensembl
rs1451992157
CA358599237
226 Q>R No ClinGen
TOPMed
gnomAD
rs1310665970
CA358599241
227 V>L No ClinGen
gnomAD
TCGA novel 230 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358599274
rs1580504262
232 T>P No ClinGen
Ensembl
CA3100711
rs758885073
233 E>K No ClinGen
ExAC
gnomAD
rs780588643
CA3100712
235 I>T No ClinGen
ExAC
gnomAD
CA358599294
rs1230778365
235 I>V No ClinGen
gnomAD
rs781200753
CA3100715
239 S>P No ClinGen
ExAC
gnomAD
rs769938020
CA3100717
240 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs374181841
CA3100719
242 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771956460
CA3100720
246 C>R No ClinGen
ExAC
gnomAD
rs775470260
CA3100721
249 D>G No ClinGen
ExAC
gnomAD
rs933716681
CA108301496
251 K>R No ClinGen
Ensembl
rs543969054
CA3100722
252 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1345250466
CA358431877
253 V>L No ClinGen
gnomAD
CA3100738
rs528436781
254 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA107778966
rs746945054
255 C>F No ClinGen
ExAC
gnomAD
CA358431909
rs1335343936
255 C>R No ClinGen
TOPMed
gnomAD
CA3100739
rs746945054
255 C>Y No ClinGen
ExAC
gnomAD
CA358431951
rs1313652067
257 Q>P No ClinGen
gnomAD
TCGA novel 261 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358432105
rs1207181595
264 D>G No ClinGen
gnomAD
rs761382874
CA3100742
264 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA358432166
rs1416220621
265 V>A No ClinGen
TOPMed
rs772947046
CA3100744
269 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs980372267
CA107778979
270 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 272 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 273 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM4138065
CA3100745
rs186217292
COSM4138066
275 R>H ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs766780091
CA3100746
276 Y>N No ClinGen
ExAC
gnomAD
rs751856360
CA3100747
278 Q>R No ClinGen
ExAC
gnomAD
rs760104011
CA3100748
279 D>G No ClinGen
ExAC
gnomAD
rs752825929
CA3100750
282 V>L No ClinGen
ExAC
gnomAD
rs1169749079
CA358432496
283 L>P No ClinGen
gnomAD
CA3100751
rs756191602
286 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1295670613
CA358432541
286 S>R No ClinGen
gnomAD
TCGA novel 286 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768400811
CA107782135
288 C>W No ClinGen
Ensembl
CA358433673
rs751438505
289 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3100774
rs751438505
289 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA3100775
rs201773968
289 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358433676
rs201773968
289 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA107782150
rs751438505
289 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA358433684
rs1158205545
290 V>I No ClinGen
TOPMed
rs1580701165
CA358433697
291 L>P No ClinGen
Ensembl
rs147825260
CA3100778
291 L>V No ClinGen
ESP
ExAC
gnomAD
rs777409554
CA3100779
292 K>N No ClinGen
ExAC
gnomAD
rs748737054
CA3100780
293 S>A No ClinGen
ExAC
gnomAD
rs770621436
CA3100781
293 S>L No ClinGen
ExAC
gnomAD
rs773965597
CA3100782
294 S>F No ClinGen
ExAC
gnomAD
CA107782175
rs929949096
295 Y>F No ClinGen
Ensembl
rs373561276
CA107782188
296 S>C No ClinGen
ESP
TOPMed
rs1417038937
CA358433780
297 R>* No ClinGen
TOPMed
CA107782200
rs200758050
297 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1051930
COSM1051931
rs200758050
CA3100784
297 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3100785
rs775761791
298 S>F No ClinGen
ExAC
gnomAD
CA3100786
rs761308197
300 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA3100789
rs761766445
306 S>T No ClinGen
ExAC
gnomAD
rs1304509191
CA358434026
309 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358434078
rs1356077683
311 P>L No ClinGen
gnomAD
rs529993293
CA3100790
311 P>S No ClinGen
1000Genomes
ExAC
CA107782236
rs199938113
313 R>G No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs767425247
CA107782241
313 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs767425247
CA3100793
313 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs552302947
COSM1051934
COSM1051933
CA3100794
314 R>C endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA358434113
rs552302947
314 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756136401
CA3100796
314 R>H No ClinGen
ExAC
gnomAD
rs756136401
CA3100795
314 R>P No ClinGen
ExAC
gnomAD
rs552302947
CA358434115
314 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3100797
rs147007273
315 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358434214
rs1238495037
320 S>P No ClinGen
gnomAD
rs1473649394
CA358435276
322 N>S No ClinGen
gnomAD
CA3100846
rs748518798
324 T>A No ClinGen
ExAC
gnomAD
rs1455871968
CA358435290
325 P>T No ClinGen
gnomAD
CA3100848
rs778400715
326 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA358435329
rs1395567372
329 L>V No ClinGen
gnomAD
rs1361816587
CA358435345
330 S>F No ClinGen
Ensembl
rs749761682
CA3100849
330 S>P No ClinGen
ExAC
gnomAD
CA3100850
rs770944617
331 T>S No ClinGen
ExAC
gnomAD
CA358435368
rs1354895891
333 K>Q No ClinGen
TOPMed
rs774419441
CA3100851
333 K>T No ClinGen
ExAC
CA3100852
rs759686503
334 S>C No ClinGen
ExAC
gnomAD
CA358435383
rs1327988889
334 S>T No ClinGen
gnomAD
CA3100853
rs149132491
335 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358435408
rs1199446103
336 K>R No ClinGen
gnomAD
CA107786169
rs946701287
339 S>G No ClinGen
TOPMed
gnomAD
CA358435448
rs1486615231
339 S>R No ClinGen
gnomAD
rs1250834685
CA358435475
341 S>F No ClinGen
gnomAD
TCGA novel 342 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358435488
rs1471517126
343 T>P No ClinGen
TOPMed
gnomAD
CA358435503
rs1580711252
344 S>G No ClinGen
Ensembl
CA3100855
rs761577454
345 P>T No ClinGen
ExAC
gnomAD
CA107786175
rs897292861
346 G>V No ClinGen
Ensembl
rs764965094
CA3100856
348 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs750393034
CA3100857
349 R>T No ClinGen
ExAC
gnomAD
TCGA novel 352 K>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 353 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358437402
rs1560882483
353 Q>K No ClinGen
Ensembl
CA358437406
rs1560882490
353 Q>R No ClinGen
Ensembl
CA358437413
rs1175601420
354 I>F No ClinGen
gnomAD
rs143255740
CA3100870
358 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772236299
CA3100871
358 G>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 362 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1289711095
CA358437470
363 N>S No ClinGen
gnomAD
rs1339161977
CA358437478
364 V>E No ClinGen
TOPMed
rs1387588571
CA358437475
364 V>I No ClinGen
TOPMed
gnomAD
rs775714892
CA358437487
365 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA107795396
rs935449862
365 N>S No ClinGen
Ensembl
CA3100873
rs558869328
366 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358437503
rs1372371449
368 P>R No ClinGen
TOPMed
gnomAD
rs1372503025
CA358437501
368 P>S No ClinGen
gnomAD
rs1234473705
CA358437523
371 D>G No ClinGen
gnomAD
rs374813761
CA3100874
372 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3100875
rs34386880
VAR_040442
372 R>H No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs148315360
CA3100876
374 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA107795423
rs919650101
374 I>M No ClinGen
TOPMed
gnomAD
CA358437541
rs1477441060
374 I>T No ClinGen
TOPMed
CA3100877
rs148315360
374 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1488061745
CA358437545
375 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM1203132
rs368925890
CA107795425
COSM1203131
375 S>R large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
rs745315685
CA107795427
378 G>R No ClinGen
Ensembl
rs779456964
CA3100886
381 G>V No ClinGen
ExAC
gnomAD
rs930923607
CA107796013
383 R>S No ClinGen
TOPMed
CA358437702
rs142061527
386 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758538840
CA3100888
386 E>K No ClinGen
ExAC
CA3100889
rs142061527
386 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs113059899
CA3100891
389 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA107796022
rs552557131
389 T>I No ClinGen
1000Genomes
CA3100890
rs113059899
389 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA3100892
rs773057815
390 L>I No ClinGen
ExAC
gnomAD
rs1560883896
CA358437749
391 L>I No ClinGen
Ensembl
CA358437810
rs1167574377
395 K>R No ClinGen
gnomAD
CA358437830
rs1419514268
397 G>R No ClinGen
gnomAD
rs1461656845
CA358437849
398 K>R No ClinGen
gnomAD
CA3100893
rs749078554
399 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3100894
rs566095628
403 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1289360799
CA358437927
COSM1051949
COSM1051948
404 N>K endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1394000509
CA358438019
411 C>R No ClinGen
gnomAD
rs1294938194
CA358438021
411 C>Y No ClinGen
gnomAD
rs534744184
CA3100896
412 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1227995445
CA358438038
413 D>Y No ClinGen
gnomAD
CA107797748
rs780095704
416 T>A No ClinGen
Ensembl
CA358438686
rs1452076284
420 F>C No ClinGen
gnomAD
CA358438709
rs1432743224
422 L>P No ClinGen
gnomAD
rs1376059237
CA358438740
425 I>R No ClinGen
gnomAD
CA3100913
rs75931476
429 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1326617018
CA358438808
430 C>Y No ClinGen
gnomAD
TCGA novel 432 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA107802393
rs994090548
443 I>T No ClinGen
Ensembl
CA358440836
rs1228169229
445 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1272086755
CA358440838
445 R>H Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358440845
rs1318357722
446 R>* No ClinGen
gnomAD
CA3100935
rs772172177
COSM732429
COSM732430
446 R>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs772172177
CA358440846
446 R>Q No ClinGen
ExAC
gnomAD
CA107802396
rs1027035910
447 V>M No ClinGen
Ensembl
rs1253112930
CA358440866
449 H>L No ClinGen
gnomAD
CA107802397
rs759356283
450 P>R No ClinGen
Ensembl
rs952898754
CA107802400
451 N>K No ClinGen
Ensembl
CA358440897
rs1267238335
454 M>L No ClinGen
gnomAD
rs780166882
CA3100937
456 V>A No ClinGen
ExAC
gnomAD
CA3100940
rs775948934
457 E>G No ClinGen
ExAC
gnomAD
COSM1427465
rs1475584364
COSM1427466
CA358440914
457 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 458 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358440933
rs1415902350
459 M>T No ClinGen
gnomAD
rs761586425
CA3100941
460 E>K No ClinGen
ExAC
gnomAD
CA107802446
rs971032693
463 T>A No ClinGen
gnomAD
rs1380670929
CA358440985
467 L>V No ClinGen
gnomAD
rs1163370264
CA358441000
469 M>I No ClinGen
TOPMed
CA107802465
rs982372058
469 M>V No ClinGen
Ensembl
TCGA novel 470 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 470 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358441014
rs1432173225
471 L>S No ClinGen
TOPMed
rs748898379
CA3100962
474 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 476 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1404234143
CA358441065
477 L>R No ClinGen
TOPMed
rs1023690825
CA107802629
479 D>A No ClinGen
Ensembl
CA107802634
rs971322181
480 A>G No ClinGen
Ensembl
CA3100963
rs771287672
COSM239528
COSM239529
483 S>L Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138420599
CA3100965
484 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 486 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1417257862
CA358441122
486 K>R No ClinGen
TOPMed
rs775674700
CA3100967
487 Y>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 489 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 490 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757498459
CA3100971
495 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA358441207
rs1395271464
498 N>S No ClinGen
gnomAD
CA358441225
rs1330162066
501 N>D No ClinGen
TOPMed
CA3100973
rs143008050
501 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 502 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA107802684
rs892895058
504 R>S No ClinGen
TOPMed
gnomAD
CA107802711
rs996579896
509 L>I No ClinGen
TOPMed
gnomAD
CA3100976
rs150687721
511 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1309799
rs200547939
CA107802720
COSM1309800
512 V>M Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 520 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3101005
rs780412906
527 P>R No ClinGen
ExAC
gnomAD
CA358429223
rs1288153165
528 D>G No ClinGen
TOPMed
gnomAD
TCGA novel 529 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358429227
rs1479720748
529 G>R No ClinGen
TOPMed
gnomAD
CA358429236
rs1321508209
530 T>N No ClinGen
TOPMed
rs201910979
CA3101006
531 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358429259
rs1231070096
534 K>Q No ClinGen
TOPMed
rs1258552457
CA358429310
541 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs900928737
CA107787409
544 V>I No ClinGen
TOPMed
CA3101009
rs761963621
546 G>D No ClinGen
ExAC
rs1476357335
CA358429338
546 G>R No ClinGen
gnomAD
rs1433044006
CA358429347
547 P>L No ClinGen
TOPMed
TCGA novel 548 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3101010
rs140025834
550 T>A No ClinGen
ESP
ExAC
TOPMed
rs1457545017
CA358429373
551 V>A No ClinGen
TOPMed
rs1259427707
CA358429368
551 V>F No ClinGen
gnomAD
rs1257213634
CA358429390
554 T>S No ClinGen
gnomAD
rs773600400
CA3101011
555 P>S No ClinGen
ExAC
gnomAD
CA358429443
rs1451071478
562 I>T No ClinGen
TOPMed
CA358429440
rs1161504143
562 I>V No ClinGen
TOPMed
rs752522566
CA3101014
565 E>G No ClinGen
ExAC
gnomAD
TCGA novel 576 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775186001
CA3101033
577 A>T No ClinGen
ExAC
gnomAD
CA107787845
rs905696183
578 G>D No ClinGen
gnomAD
rs35745104
CA3101036
VAR_040443
583 I>V No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs761684059
CA3101037
584 L>F No ClinGen
ExAC
gnomAD
rs372472394
CA3101039
590 P>L No ClinGen
ESP
ExAC
gnomAD
CA107787898
rs978601265
592 R>* No ClinGen
TOPMed
gnomAD
CA107787901
COSM3127483
rs911019486
COSM3127482
592 R>Q pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1211111058
CA358430892
594 E>A No ClinGen
gnomAD
CA358430885
COSM74334
COSM1427471
rs1332687423
594 E>K ovary large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA3101071
rs746149168
595 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA358430922
rs1403857851
596 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA107792541
rs35844734
600 D>G No ClinGen
Ensembl
rs949808940
CA107792526
600 D>H No ClinGen
Ensembl
CA358430996
rs1243613582
602 F>L No ClinGen
gnomAD
rs143883593
CA3101075
603 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1000013072
CA107792565
604 Q>E No ClinGen
Ensembl
rs773232962
CA3101076
604 Q>H No ClinGen
ExAC
gnomAD
rs1396258993
CA358431079
607 A>V No ClinGen
TOPMed
TCGA novel 611 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770489530
CA3101078
613 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA358431232
rs1320907674
618 D>E No ClinGen
gnomAD
rs1199313736
CA358431228
618 D>V No ClinGen
TOPMed
rs1479536348
CA358431236
619 N>D No ClinGen
TOPMed
CA358431248
rs1254032450
619 N>K No ClinGen
TOPMed
rs1560908469
CA358431252
620 I>V No ClinGen
Ensembl
rs1361555476
CA358431274
621 T>M No ClinGen
gnomAD
CA358431291
rs1437419543
622 D>E No ClinGen
TOPMed
CA107792612
rs954659002
625 K>T No ClinGen
Ensembl
rs961725245
CA107793075
627 L>F No ClinGen
TOPMed
CA107793077
rs200270706
628 I>V No ClinGen
1000Genomes
CA358431860
COSM3660921
COSM3660922
rs1354356604
629 S>G liver [Cosmic] No ClinGen
cosmic curated
gnomAD
CA3101110
rs543464474
629 S>R No ClinGen
1000Genomes
ExAC
gnomAD
CA358431884
rs1277884374
630 Q>E No ClinGen
gnomAD
rs1405187796
CA358431931
632 L>F No ClinGen
TOPMed
rs780042885
CA3101111
636 V>G No ClinGen
ExAC
gnomAD
CA358432006
rs1246690851
636 V>I No ClinGen
gnomAD
TCGA novel 639 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358432089
rs1454955717
639 R>W No ClinGen
TOPMed
CA358432123
rs1201235162
640 C>F No ClinGen
gnomAD
CA358432119
rs1201235162
640 C>Y No ClinGen
gnomAD
rs1436081098
CA358432171
642 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1180597418
CA358432185
642 A>V No ClinGen
gnomAD
CA358432277
rs1172371489
645 I>V No ClinGen
gnomAD
rs749003060
CA107793103
649 P>S No ClinGen
ExAC
gnomAD
rs749003060
CA3101115
649 P>T No ClinGen
ExAC
gnomAD
CA3101116
rs370305193
652 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1466939427
CA358432423
652 S>P No ClinGen
gnomAD
CA358432617
rs1580798113
653 D>G No ClinGen
Ensembl
rs773554704
CA3101147
654 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs773554704
CA358432632
654 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA3101148
rs763520035
656 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs766838350
CA3101149
657 Q>R No ClinGen
ExAC
gnomAD
CA107793852
rs1026731496
658 E>D No ClinGen
Ensembl
CA3101150
rs774537543
658 E>K No ClinGen
ExAC
gnomAD
rs1318032529
CA358432706
660 N>D No ClinGen
TOPMed
CA3101151
rs759555666
661 M>I No ClinGen
ExAC
gnomAD
CA358432729
rs1276978067
661 M>T No ClinGen
TOPMed
CA358432748
rs368066010
662 Q>H No ClinGen
gnomAD
CA3101153
rs752863300
664 E>D No ClinGen
ExAC
gnomAD
CA358432765
rs767593622
664 E>K No ClinGen
ExAC
gnomAD
CA3101152
rs767593622
664 E>Q No ClinGen
ExAC
gnomAD
rs1216421405
CA358432797
666 T>R No ClinGen
TOPMed
rs756344383
CA3101154
669 L>R No ClinGen
ExAC
gnomAD
rs765179997
CA3101155
671 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA3101156
rs750215326
672 H>Q No ClinGen
ExAC
gnomAD
rs1580798304
CA358432863
672 H>Y No ClinGen
Ensembl
CA3101157
rs758462060
675 N>D No ClinGen
ExAC
gnomAD
rs1314906077
CA358432919
675 N>S No ClinGen
gnomAD
CA3101158
rs181935788
676 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1388994632
CA358432928
676 A>T No ClinGen
TOPMed
CA3101159
rs181935788
676 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1168551787
CA358432942
677 L>F No ClinGen
TOPMed
rs1481452074
CA358432974
679 K>N No ClinGen
TOPMed
rs780696958
CA3101161
680 Q>E No ClinGen
ExAC
gnomAD
rs1489437156
CA358432983
680 Q>L No ClinGen
TOPMed
gnomAD
rs1489437156
CA358432987
680 Q>R No ClinGen
TOPMed
gnomAD
CA107793921
rs577672603
681 N>I No ClinGen
1000Genomes
TCGA novel 681 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358433015
rs1217823722
682 S>T No ClinGen
gnomAD
CA3101163
rs201425655
683 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201425655
CA358433032
683 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1179793293
CA358433041
684 T>N No ClinGen
gnomAD
CA358433054
rs1415299871
685 T>S No ClinGen
gnomAD
rs1264944568
CA358433058
686 G>R No ClinGen
TOPMed
rs1158207237
CA358433074
687 V>A No ClinGen
gnomAD
rs982013037
CA107793929
689 V>I No ClinGen
TOPMed
rs368363454
CA358433104
690 I>L No ClinGen
ESP
ExAC
gnomAD
rs368363454
CA3101167
690 I>V No ClinGen
ESP
ExAC
gnomAD
rs1374670060
CA358433126
691 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358433114
rs1178623878
691 M>L No ClinGen
gnomAD
CA3101168
rs760016722
691 M>T No ClinGen
ExAC
gnomAD
CA3101231
rs142698829
692 N>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358434801
rs1347433895
693 T>M No ClinGen
gnomAD
CA358434842
rs1456546017
699 G>E No ClinGen
gnomAD
CA107798865
rs142630958
701 I>T No ClinGen
ESP
CA3101233
rs760668190
702 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs763985308
CA3101234
703 C>S No ClinGen
ExAC
gnomAD
rs910436543
CA107798887
704 S>C No ClinGen
TOPMed
rs1432905636
CA358434879
705 K>E No ClinGen
gnomAD
CA3101235
rs776051241
707 C>G No ClinGen
ExAC
CA3101236
rs761420593
708 Q>E No ClinGen
ExAC
gnomAD
rs200028284
CA358434923
710 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757973684
CA3101239
711 G>S No ClinGen
ExAC
gnomAD
rs751945233
CA3101241
712 R>K No ClinGen
ExAC
gnomAD
rs1333223286
CA358434933
712 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358434937
rs1400965746
713 P>S No ClinGen
gnomAD
rs1332656505
CA358434982
719 S>F No ClinGen
gnomAD
CA3101243
rs781770815
720 P>L No ClinGen
ExAC
gnomAD
rs1170827110
CA358434985
720 P>S No ClinGen
TOPMed
CA358434995
rs1277879401
722 P>A No ClinGen
gnomAD
CA107798905
rs1022120629
722 P>L No ClinGen
Ensembl
rs1316071326
CA358435001
723 P>A No ClinGen
gnomAD
CA3101244
rs753102549
724 S>L No ClinGen
ExAC
gnomAD
rs1580818227
CA358435014
725 V>G No ClinGen
Ensembl
CA358435027
rs1488423524
727 E>V No ClinGen
gnomAD
rs1390151274
CA358435050
730 V>A No ClinGen
TOPMed
CA358435055
rs377590399
731 P>H No ClinGen
gnomAD
CA107798943
rs377590399
731 P>L No ClinGen
gnomAD
rs1452620301
CA358435061
732 G>E No ClinGen
gnomAD
CA358435060
rs1452620301
732 G>V No ClinGen
gnomAD
CA3101246
rs777652680
735 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA3101247
rs777652680
735 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs370021286
CA3101249
736 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370593066
CA107798975
739 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA3101251
rs370593066
739 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1387140628
CA358435109
741 P>A No ClinGen
gnomAD
CA358435113
rs1297756201
741 P>L No ClinGen
gnomAD
CA358435120
rs1278899209
742 E>D No ClinGen
TOPMed
gnomAD
CA358435118
rs1220738285
742 E>G No ClinGen
gnomAD
CA358435116
rs1273904939
742 E>Q No ClinGen
TOPMed
TCGA novel 743 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358435131
rs1243247991
744 P>H No ClinGen
gnomAD
rs1321258605
CA358435130
744 P>T No ClinGen
gnomAD
rs1301296124
CA3101256
745 T>A No ClinGen
TOPMed
rs772597355
CA3101259
745 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA3101255
rs1301296124
745 T>P No ClinGen
TOPMed
rs1309442590
CA358435141
746 P>L No ClinGen
TOPMed
CA358435142
rs1309442590
746 P>R No ClinGen
TOPMed
CA3101261
rs766110308
747 H>D No ClinGen
ExAC
gnomAD
CA358435144
rs1167273207
747 H>P No ClinGen
TOPMed
rs751255369 747 H>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA3101262
rs766110308
747 H>Y No ClinGen
ExAC
gnomAD
CA107799083
rs386680717
748 P>C No ClinGen
Ensembl
CA358435151
rs13152820
748 P>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358435152
rs13152820
748 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3101264
rs13152820
748 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs13152819
CA3101263
748 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs13152819
CA358435149
748 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753258438
CA358435154
749 P>S No ClinGen
ExAC
gnomAD
CA3101266
rs753258438
749 P>T No ClinGen
ExAC
gnomAD
CA358435163
rs1370132403
750 P>L No ClinGen
gnomAD
rs1162518896
CA358435160
750 P>S No ClinGen
TOPMed
gnomAD
CA358435158
rs1162518896
750 P>T No ClinGen
TOPMed
gnomAD
CA3101269
rs777975269
751 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs777975269
CA3101268
751 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757522903
CA3101270
751 A>V No ClinGen
ExAC
CA358435170
rs1402065541
752 A>D No ClinGen
gnomAD
CA358435167
rs1358443701
752 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3101272
rs557878793
753 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA107799151
rs780837468
754 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs780837468
CA3101274
754 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA107799153
rs752871470
755 G>A No ClinGen
gnomAD
CA358435186
rs752871470
755 G>D No ClinGen
gnomAD
rs1322888854
CA358435182
755 G>S No ClinGen
gnomAD
rs888633138
CA358435194
756 E>D No ClinGen
TOPMed
gnomAD
rs748184128
CA3101275
757 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1356358177
CA358435196
757 R>W No ClinGen
gnomAD
rs772831263
CA358435199
758 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs772831263
CA3101277
758 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA358435207
rs1179628371
759 G>E No ClinGen
gnomAD
CA358435223
rs1448672358
761 W>C No ClinGen
Ensembl
rs1350274434
CA358435217
761 W>R No ClinGen
TOPMed
rs770526942
CA3101279
762 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs774147910
CA3101280
762 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1005681484
CA107799210
763 R>C No ClinGen
TOPMed
gnomAD
COSM1203130
rs1421294372
COSM1203129
CA358435231
763 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs759203165
CA3101281
765 R>* No ClinGen
ExAC
gnomAD
TCGA novel 765 R>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1468352901
CA358435247
766 D>H No ClinGen
TOPMed

No associated diseases with Q8N568

5 regional properties for Q8N568

Type Name Position InterPro Accession
domain Protein kinase domain 394 - 651 IPR000719
domain Doublecortin domain 67 - 158 IPR003533-1
domain Doublecortin domain 192 - 280 IPR003533-2
active_site Serine/threonine-protein kinase, active site 511 - 523 IPR008271
binding_site Protein kinase, ATP binding site 400 - 423 IPR017441

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm, cytoskeleton
  • Colocalizes with microtubules
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.
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.

4 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
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.

7 GO annotations of biological process

Name Definition
hippocampus development The progression of the hippocampus over time from its initial formation until its mature state.
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.
microtubule 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 microtubules and their associated proteins.
negative regulation of protein localization to nucleus Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
protein localization to nucleus A process in which a protein transports or maintains the localization of another protein to the nucleus.
pyramidal neuron development The progression of a pyramidal neuron from its initial formation to its mature state.

99 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A4IFM7 MYLK2 Myosin light chain kinase 2, skeletal/cardiac muscle Bos taurus (Bovine) SS
Q0V7M1 PSKH1 Serine/threonine-protein kinase H1 Bos taurus (Bovine) SS
Q0VD22 STK33 Serine/threonine-protein kinase 33 Bos taurus (Bovine) PR
Q96NX5 CAMK1G Calcium/calmodulin-dependent protein kinase type 1G Homo sapiens (Human) SS
Q14012 CAMK1 Calcium/calmodulin-dependent protein kinase type 1 Homo sapiens (Human) EV
Q9UIK4 DAPK2 Death-associated protein kinase 2 Homo sapiens (Human) EV
O94768 STK17B Serine/threonine-protein kinase 17B Homo sapiens (Human) PR
Q86YV6 MYLK4 Myosin light chain kinase family member 4 Homo sapiens (Human) SS
Q16566 CAMK4 Calcium/calmodulin-dependent protein kinase type IV Homo sapiens (Human) SS
P11801 PSKH1 Serine/threonine-protein kinase H1 Homo sapiens (Human) SS
Q9UEE5 STK17A Serine/threonine-protein kinase 17A Homo sapiens (Human) SS
O75962 TRIO Triple functional domain protein Homo sapiens (Human) EV
Q9H1R3 MYLK2 Myosin light chain kinase 2, skeletal/cardiac muscle Homo sapiens (Human) EV
Q32MK0 MYLK3 Myosin light chain kinase 3 Homo sapiens (Human) SS
Q8WWF8 CAPSL Calcyphosin-like protein Homo sapiens (Human) PR
P53355 DAPK1 Death-associated protein kinase 1 Homo sapiens (Human) EV
Q6P2M8 PNCK Calcium/calmodulin-dependent protein kinase type 1B Homo sapiens (Human) SS
Q9BYT3 STK33 Serine/threonine-protein kinase 33 Homo sapiens (Human) PR
Q8NCB2 CAMKV CaM kinase-like vesicle-associated protein Homo sapiens (Human) SS
O43293 DAPK3 Death-associated protein kinase 3 Homo sapiens (Human) PR
Q8IU85 CAMK1D Calcium/calmodulin-dependent protein kinase type 1D Homo sapiens (Human) SS
O15075 DCLK1 Serine/threonine-protein kinase DCLK1 Homo sapiens (Human) EV
Q9QYK9 Pnck Calcium/calmodulin-dependent protein kinase type 1B Mus musculus (Mouse) PR
Q91VB2 Camk1g Calcium/calmodulin-dependent protein kinase type 1G Mus musculus (Mouse) SS
Q8BG48 Stk17b Serine/threonine-protein kinase 17B Mus musculus (Mouse) PR
Q8VCR8 Mylk2 Myosin light chain kinase 2, skeletal/cardiac muscle Mus musculus (Mouse) SS
Q91YS8 Camk1 Calcium/calmodulin-dependent protein kinase type 1 Mus musculus (Mouse) SS
Q3UIZ8 Mylk3 Myosin light chain kinase 3 Mus musculus (Mouse) SS
Q8VDF3 Dapk2 Death-associated protein kinase 2 Mus musculus (Mouse) EV
Q6P8Y1 Capsl Calcyphosin-like protein Mus musculus (Mouse) PR
Q8BW96 Camk1d Calcium/calmodulin-dependent protein kinase type 1D Mus musculus (Mouse) SS
Q3UHL1 Camkv CaM kinase-like vesicle-associated protein Mus musculus (Mouse) SS
P08414 Camk4 Calcium/calmodulin-dependent protein kinase type IV Mus musculus (Mouse) SS
Q91YA2 Pskh1 Serine/threonine-protein kinase H1 Mus musculus (Mouse) SS
Q80YE7 Dapk1 Death-associated protein kinase 1 Mus musculus (Mouse) SS
Q62407 Speg Striated muscle-specific serine/threonine-protein kinase Mus musculus (Mouse) SS
Q0KL02 Trio Triple functional domain protein Mus musculus (Mouse) SS
Q924X7 Stk33 Serine/threonine-protein kinase 33 Mus musculus (Mouse) PR
O54784 Dapk3 Death-associated protein kinase 3 Mus musculus (Mouse) PR
Q9JLM8 Dclk1 Serine/threonine-protein kinase DCLK1 Mus musculus (Mouse) SS
Q6PGN3 Dclk2 Serine/threonine-protein kinase DCLK2 Mus musculus (Mouse) PR
Q7TNJ7 Camk1g Calcium/calmodulin-dependent protein kinase type 1G Rattus norvegicus (Rat) SS
P20689 Mylk2 Myosin light chain kinase 2, skeletal/cardiac muscle Rattus norvegicus (Rat) SS
F1M0Z1 Trio Triple functional domain protein Rattus norvegicus (Rat) SS
Q91XS8 Stk17b Serine/threonine-protein kinase 17B Rattus norvegicus (Rat) PR
O08875 Dclk1 Serine/threonine-protein kinase DCLK1 Rattus norvegicus (Rat) PR
E9PT87 Mylk3 Myosin light chain kinase 3 Rattus norvegicus (Rat) SS
O70150 Pnck Calcium/calmodulin-dependent protein kinase type 1B Rattus norvegicus (Rat) PR
Q63092 Camkv CaM kinase-like vesicle-associated protein Rattus norvegicus (Rat) SS
Q63638 Speg Striated muscle-specific serine/threonine-protein kinase Rattus norvegicus (Rat) SS
O88764 Dapk3 Death-associated protein kinase 3 Rattus norvegicus (Rat) PR
P13234 Camk4 Calcium/calmodulin-dependent protein kinase type IV Rattus norvegicus (Rat) SS
Q63450 Camk1 Calcium/calmodulin-dependent protein kinase type 1 Rattus norvegicus (Rat) EV
P97924 Kalrn Kalirin Rattus norvegicus (Rat) SS
Q5MPA9 Dclk2 Serine/threonine-protein kinase DCLK2 Rattus norvegicus (Rat) PR
Q5VQQ5 CPK2 Calcium-dependent protein kinase 2 Oryza sativa subsp. japonica (Rice) SS
Q8LPZ7 CPK3 Calcium-dependent protein kinase 3 Oryza sativa subsp. japonica (Rice) SS
Q6K968 CPK6 Calcium-dependent protein kinase 6 Oryza sativa subsp. japonica (Rice) SS
P53684 CPK7 Calcium-dependent protein kinase 7 Oryza sativa subsp japonica (Rice) PR
Q75GE8 CPK8 Calcium-dependent protein kinase 8 Oryza sativa subsp. japonica (Rice) SS
Q6I5I8 CPK16 Calcium-dependent protein kinase 16 Oryza sativa subsp. japonica (Rice) SS
Q6AVM3 CCAMK Calcium and calcium/calmodulin-dependent serine/threonine-protein kinase Oryza sativa subsp japonica (Rice) PR
Q84SL0 CPK20 Calcium-dependent protein kinase 20 Oryza sativa subsp. japonica (Rice) SS
P53682 CPK23 Calcium-dependent protein kinase 23 Oryza sativa subsp japonica (Rice) PR
Q9TXJ0 cmk-1 Calcium/calmodulin-dependent protein kinase type 1 Caenorhabditis elegans PR
O44997 dapk-1 Death-associated protein kinase dapk-1 Caenorhabditis elegans SS
Q95QC4 zyg-8 Serine/threonine-protein kinase zyg-8 Caenorhabditis elegans PR
P28583 Calcium-dependent protein kinase SK5 Glycine max (Soybean) (Glycine hispida) PR
Q9M9V8 CPK10 Calcium-dependent protein kinase 10 Arabidopsis thaliana (Mouse-ear cress) PR
Q39016 CPK11 Calcium-dependent protein kinase 11 Arabidopsis thaliana (Mouse-ear cress) SS
Q9FX86 CRK8 CDPK-related kinase 8 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SSF8 CPK30 Calcium-dependent protein kinase 30 Arabidopsis thaliana (Mouse-ear cress) PR
Q38872 CPK6 Calcium-dependent protein kinase 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q7XJR9 CPK16 Calcium-dependent protein kinase 16 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SIQ7 CPK24 Calcium-dependent protein kinase 24 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SJ61 CPK25 Calcium-dependent protein kinase 25 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZV15 CPK20 Calcium-dependent protein kinase 20 Arabidopsis thaliana (Mouse-ear cress) PR
P93759 GK-1 Calcium-dependent protein kinase 14 Arabidopsis thaliana (Mouse-ear cress) PR
Q8S8S2 LPEAT2 Lysophospholipid acyltransferase LPEAT2 Arabidopsis thaliana (Mouse-ear cress) PR
Q38870 CPK2 Calcium-dependent protein kinase 2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LJL9 CRK2 CDPK-related kinase 2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SG12 CRK6 CDPK-related kinase 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SCS2 CRK5 CDPK-related kinase 5 Arabidopsis thaliana (Mouse-ear cress) PR
Q8W4I7 CPK13 Calcium-dependent protein kinase 13 Arabidopsis thaliana (Mouse-ear cress) PR
Q6NLQ6 CPK32 Calcium-dependent protein kinase 32 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZSA4 CPK27 Calcium-dependent protein kinase 27 Arabidopsis thaliana (Mouse-ear cress) PR
Q38869 CPK4 Calcium-dependent protein kinase 4 Arabidopsis thaliana (Mouse-ear cress) SS
Q42479 CPK3 Calcium-dependent protein kinase 3 Arabidopsis thaliana (Mouse-ear cress) PR
Q1PE17 CPK18 Calcium-dependent protein kinase 18 Arabidopsis thaliana (Mouse-ear cress) SS
Q06850 CPK1 Calcium-dependent protein kinase 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FMP5 CPK17 Calcium-dependent protein kinase 17 Arabidopsis thaliana (Mouse-ear cress) PR
Q38873 CPK7 Calcium-dependent protein kinase 7 Arabidopsis thaliana (Mouse-ear cress) PR
Q3E9C0 CPK34 Calcium-dependent protein kinase 34 Arabidopsis thaliana (Mouse-ear cress) PR
Q42438 CPK8 Calcium-dependent protein kinase 8 Arabidopsis thaliana (Mouse-ear cress) PR
Q42396 CPK12 Calcium-dependent protein kinase 12 Arabidopsis thaliana (Mouse-ear cress) SS
Q9FKW4 CPK28 Calcium-dependent protein kinase 28 Arabidopsis thaliana (Mouse-ear cress) SS
Q1LUA6 trio Triple functional domain protein Danio rerio (Zebrafish) (Brachydanio rerio) SS
A8C984 mylk3 Myosin light chain kinase 3 Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q7SY49 camkv CaM kinase-like vesicle-associated protein Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MASTRSIELE HFEERDKRPR PGSRRGAPSS SGGSSSSGPK GNGLIPSPAH SAHCSFYRTR
70 80 90 100 110 120
TLQALSSEKK AKKARFYRNG DRYFKGLVFA ISSDRFRSFD ALLIELTRSL SDNVNLPQGV
130 140 150 160 170 180
RTIYTIDGSR KVTSLDELLE GESYVCASNE PFRKVDYTKN INPNWSVNIK GGTSRALAAA
190 200 210 220 230 240
SSVKSEVKES KDFIKPKLVT VIRSGVKPRK AVRILLNKKT AHSFEQVLTD ITEAIKLDSG
250 260 270 280 290 300
VVKRLCTLDG KQVTCLQDFF GDDDVFIACG PEKFRYAQDD FVLDHSECRV LKSSYSRSSA
310 320 330 340 350 360
VKYSGSKSPG PSRRSKSPAS VNGTPSSQLS TPKSTKSSSS SPTSPGSFRG LKQISAHGRS
370 380 390 400 410 420
SSNVNGGPEL DRCISPEGVN GNRCSESSTL LEKYKIGKVI GDGNFAVVKE CIDRSTGKEF
430 440 450 460 470 480
ALKIIDKAKC CGKEHLIENE VSILRRVKHP NIIMLVEEME TATELFLVME LVKGGDLFDA
490 500 510 520 530 540
ITSSTKYTER DGSAMVYNLA NALRYLHGLS IVHRDIKPEN LLVCEYPDGT KSLKLGDFGL
550 560 570 580 590 600
ATVVEGPLYT VCGTPTYVAP EIIAETGYGL KVDIWAAGVI TYILLCGFPP FRSENNLQED
610 620 630 640 650 660
LFDQILAGKL EFPAPYWDNI TDSAKELISQ MLQVNVEARC TAGQILSHPW VSDDASQENN
670 680 690 700 710 720
MQAEVTGKLK QHFNNALPKQ NSTTTGVSVI MNTALDKEGQ IFCSKHCQDS GRPGMEPISP
730 740 750 760
VPPSVEEIPV PGEAVPAPTP PESPTPHPPP AAPGGERAGT WRRHRD