Descriptions

Serine/threonine-protein kinase N1 (PKN1) is a PKC-related serine/threonine protein kinase involved in specific signal transduction responses such as regulation of intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion, and transcription regulation in cells. Its kinase activity is enhanced by fatty acids such as arachidonic acid or the small GTP-binding protein Rho. Residues 455-511 of PKN selectively inhibit the kinase activity of the catalytic fragment of PKN1. Arachidonic acid relieves the catalytic activity of wild-type PKN from autoinhibition by residues 455-511 of PKN.

Autoinhibitory domains (AIDs)

Target domain

559-818 (Protein kinase domain)

Relief mechanism

Ligand binding, PTM

Assay

Accessory elements

701-724 (Activation loop from InterPro)

Target domain

559-818 (Protein kinase domain)

Relief mechanism

Assay

701-724 (Activation loop from InterPro)

Target domain

559-818 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for Q6P5Z2

Entry ID Method Resolution Chain Position Source
AF-Q6P5Z2-F1 Predicted AlphaFoldDB

758 variants for Q6P5Z2

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1451844152
CA375062473
2 E>A No ClinGen
gnomAD
rs1312564186
CA375062485
CA375062486
3 E>D No ClinGen
TOPMed
gnomAD
rs1045302696
CA200418175
4 G>V No ClinGen
TOPMed
rs908755167
CA200418181
5 A>T No ClinGen
TOPMed
CA375062503
rs1246200294
6 P>Q No ClinGen
gnomAD
rs375885408
CA5267151
COSM98953
11 P>L large_intestine stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA5267150
rs375885408
11 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1174420976
CA375062850
12 S>I No ClinGen
gnomAD
CA200420195
rs888286625
14 W>* No ClinGen
TOPMed
rs1242389011
CA375062878
14 W>* No ClinGen
TOPMed
CA375062895
rs771840775
15 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs771840775
CA5267153
15 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA375062892
rs771840775
15 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA375062918
rs1218548994
16 P>R No ClinGen
gnomAD
CA375062914
rs1352574135
16 P>S No ClinGen
gnomAD
CA375062924
rs1443861780
17 E>K No ClinGen
gnomAD
CA5267155
rs760040215
18 D>N No ClinGen
ExAC
gnomAD
TCGA novel 18 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1342506615
CA375062982
19 E>D No ClinGen
TOPMed
TCGA novel 22 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1221145809
CA375063044
22 V>G No ClinGen
gnomAD
rs1284710994
CA375063059
23 I>T No ClinGen
gnomAD
CA5267156
rs765945214
24 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1220318953
CA375063076
24 R>H No ClinGen
gnomAD
rs1220318953
CA375063081
24 R>L No ClinGen
gnomAD
CA5267158
rs373360025
25 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267157
rs369925350
25 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765129851
CA5267159
26 A>T No ClinGen
ExAC
gnomAD
COSM1220815
rs377752354
CA5267160
26 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1419753811
CA375063103
27 I>V No ClinGen
TOPMed
rs1478291312
CA375063155
32 K>R No ClinGen
gnomAD
CA375063167
rs1473548305
33 I>T No ClinGen
TOPMed
CA5267165
rs546780208
CA5267164
35 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs144842292
CA200420269
CA5267166
36 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144842292
CA5267167
36 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375063266
rs528959123
41 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267170
rs528959123
41 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267171
rs528959123
41 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267169
rs560359660
41 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746700545
COSM1220817
CA5267172
42 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs770542091
CA5267173
42 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1021442463
CA200420292
43 V>M No ClinGen
TOPMed
gnomAD
rs759037852
CA5267175
45 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs986815320
CA200420304
45 T>I No ClinGen
Ensembl
rs370013888
CA375063326
47 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370013888
CA5267176
47 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267177
rs775416496
47 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765133433
CA5267178
48 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA375063332
rs765133433
48 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5267179
rs763903613
48 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA375063371
rs1476382208
51 G>D No ClinGen
gnomAD
rs1240280241
CA375063367
51 G>S No ClinGen
gnomAD
rs373024694
CA5267180
52 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA200420370
rs999163892
54 Q>R No ClinGen
TOPMed
CA200420371
rs976416273
55 Q>* No ClinGen
gnomAD
CA375063446
rs1589475368
57 L>R No ClinGen
Ensembl
CA375063454
rs750509484
58 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs750509484
CA5267183
58 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5267182
rs548837083
58 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1589475389
CA375063462
59 S>A No ClinGen
Ensembl
CA5267184
rs756163526
61 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA200420398
rs756163526
61 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs568799465
CA5267185
62 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA375063502
rs1266686337
COSM3847777
62 R>H breast [Cosmic] No ClinGen
cosmic curated
TOPMed
CA5267186
rs200996917
63 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5267187
rs200996917
63 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5267188
rs779402289
63 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1357404278
CA375063542
66 Q>* No ClinGen
gnomAD
CA375063573
rs1448592506
68 H>R No ClinGen
gnomAD
rs1282259066
CA375063569
68 H>Y No ClinGen
TOPMed
gnomAD
rs1209308773
CA375063583
69 G>D No ClinGen
gnomAD
rs748504331
CA5267189
69 G>S No ClinGen
ExAC
rs780763936
CA5267191
70 E>K No ClinGen
ExAC
gnomAD
CA375063593
rs1185242066
71 L>M No ClinGen
gnomAD
rs1368686170
CA375063597
71 L>R No ClinGen
gnomAD
CA5267193
rs551707428
72 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5267192
rs745322952
72 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA375063607
rs1386501435
73 E>D No ClinGen
gnomAD
rs1345362001
CA375063618
75 H>R No ClinGen
TOPMed
rs1280812321
CA375063615
75 H>Y No ClinGen
gnomAD
CA375063623
rs768629700
76 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs768629700
CA5267196
76 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA375063627
rs1336622465
77 R>* No ClinGen
gnomAD
rs767476875
CA5267197
77 R>Q No ClinGen
ExAC
gnomAD
rs200784357
CA5267198
81 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA375063656
rs1229144498
82 G>A No ClinGen
gnomAD
rs534131407
CA5267200
82 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA200420523
rs928356128
83 P>S No ClinGen
TOPMed
gnomAD
rs553989365
CA375063666
84 G>A No ClinGen
1000Genomes
ExAC
gnomAD
CA5267201
rs553989365
84 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1205316562
CA375063664
CA375063663
84 G>R No ClinGen
TOPMed
gnomAD
rs1179265618
CA375063677
86 G>D No ClinGen
gnomAD
rs1436801707
CA375063674
86 G>S No ClinGen
gnomAD
rs776514907
CA200420525
88 A>T No ClinGen
gnomAD
CA375063693
rs1472613975
89 E>* No ClinGen
gnomAD
rs1268664391
CA375063710
89 E>D No ClinGen
TOPMed
gnomAD
rs766751863
CA5267221
90 P>L No ClinGen
ExAC
gnomAD
CA5267223
rs759749886
94 G>E No ClinGen
ExAC
gnomAD
rs1430602919
CA375063744
95 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1476562925
CA375063740
95 P>S No ClinGen
gnomAD
rs371312873
CA5267226
96 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371312873
CA5267225
96 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267224
rs557769856
96 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267227
rs374331102
97 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1384079895
CA375063755
98 W>* No ClinGen
gnomAD
rs755732035
CA5267229
98 W>C No ClinGen
ExAC
gnomAD
CA375063761
rs540550803
99 A>P No ClinGen
1000Genomes
ExAC
gnomAD
CA5267230
rs540550803
99 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA5267231
rs748781527
99 A>V No ClinGen
ExAC
gnomAD
rs748058657
CA5267234
101 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs778870556
CA5267233
101 Q>K No ClinGen
ExAC
gnomAD
rs772096063
CA5267235
102 L>P No ClinGen
ExAC
gnomAD
rs1159351495
CA375063785
103 R>K No ClinGen
TOPMed
CA200420827
rs924643573
104 A>D No ClinGen
Ensembl
CA200420818
rs1026480619
104 A>S No ClinGen
TOPMed
gnomAD
rs147107905
CA5267238
105 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141891943
CA5267237
105 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372236370
CA200420848
106 H>Y No ClinGen
ESP
TOPMed
gnomAD
rs1183411757
CA375063804
107 L>I No ClinGen
TOPMed
gnomAD
CA375063806
rs1383601170
107 L>Q No ClinGen
TOPMed
gnomAD
rs1383601170
CA375063808
107 L>R No ClinGen
TOPMed
gnomAD
rs777009643
CA5267239
108 E>G No ClinGen
ExAC
gnomAD
CA5267242
rs776013610
111 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs116453286
CA5267241
111 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150942621
CA5267243
112 R>K No ClinGen
ESP
ExAC
gnomAD
CA5267244
rs764701452
116 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA375063865
rs1228539945
117 E>K No ClinGen
gnomAD
CA375063888
rs1314642092
120 V>A No ClinGen
TOPMed
gnomAD
CA5267245
rs751915793
121 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA200420881
rs889208385
124 A>T No ClinGen
Ensembl
CA5267247
rs765956426
124 A>V No ClinGen
ExAC
gnomAD
CA375063915
rs1236089069
125 E>K No ClinGen
gnomAD
CA375063936
rs1564370010
127 M>R No ClinGen
Ensembl
rs754464265
CA5267249
128 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA375063943
rs754464265
128 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs915565310
CA200420900
129 H>R No ClinGen
TOPMed
rs778265024
CA5267250
130 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA5267251
rs373887264
130 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746744914
CA5267254
132 A>T No ClinGen
ExAC
gnomAD
CA5267256
rs781521767
135 T>I No ClinGen
ExAC
gnomAD
CA375063993
rs1411125236
136 P>R No ClinGen
gnomAD
CA375064001
rs1330340622
137 K>N No ClinGen
gnomAD
rs1450887974
CA375064019
138 E>D No ClinGen
TOPMed
gnomAD
CA375064013
rs1194287170
138 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs916819707
CA200421768
139 R>K No ClinGen
gnomAD
rs1364616021
CA375064030
140 K>R No ClinGen
gnomAD
rs1325017165
CA375064049
143 A>G No ClinGen
gnomAD
rs781108795
CA5267273
143 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1437816011
CA375064059
145 A>D No ClinGen
TOPMed
gnomAD
CA375064056
rs1352067148
145 A>T No ClinGen
gnomAD
rs1437816011
CA375064061
145 A>V No ClinGen
TOPMed
gnomAD
CA200421769
rs1045405946
147 Q>* No ClinGen
Ensembl
CA5267274
rs367820994
147 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs998583334
CA200421779
148 M>I No ClinGen
TOPMed
gnomAD
CA375064091
rs371687806
150 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267276
rs371687806
150 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772389099
CA5267275
150 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1424676728
CA375064101
152 S>G No ClinGen
gnomAD
rs749266685
CA5267277
152 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1589477376
CA375064131
156 V>G No ClinGen
Ensembl
CA375064135
rs1292117366
157 A>S No ClinGen
gnomAD
rs571277935
CA5267279
160 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1215004599
CA375064151
160 R>W No ClinGen
TOPMed
gnomAD
rs1466063606
CA375064155
161 M>V No ClinGen
TOPMed
gnomAD
rs1189050315
CA375064172
163 I>V No ClinGen
gnomAD
rs368495780
CA5267280
165 S>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375064240
rs1406411254
169 S>G No ClinGen
gnomAD
rs772607204
CA5267281
169 S>T No ClinGen
ExAC
CA5267282
rs773562928
172 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375064283
rs773562928
172 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs376672674
CA200422005
175 G>E No ClinGen
ESP
TOPMed
CA5267300
rs114614395
176 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM3699449
rs56251280
VAR_042346
CA5267303
180 A>E large_intestine [Cosmic] No ClinGen
cosmic curated
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5267302
rs774953118
180 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs56251280
CA375064422
180 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5267305
rs773990798
182 E>* No ClinGen
ExAC
gnomAD
rs1589477662
CA375064459
182 E>G No ClinGen
Ensembl
rs150075957
CA5267306
183 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375064497
rs1192178380
184 Q>H No ClinGen
TOPMed
rs1185824186
CA375064509
185 H>R No ClinGen
gnomAD
CA375064518
rs1260163894
186 R>* No ClinGen
TOPMed
CA5267307
rs767504978
186 R>Q No ClinGen
ExAC
gnomAD
CA200422060
rs368901119
187 L>Q No ClinGen
ESP
TOPMed
gnomAD
rs564975981
CA5267309
189 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA200422080
rs564975981
189 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1589477746
CA375064626
192 A>G No ClinGen
Ensembl
rs753618170
CA5267311
194 A>G No ClinGen
ExAC
gnomAD
rs1157672202
CA375064689
196 G>D No ClinGen
TOPMed
gnomAD
rs373356783
CA5267313
196 G>S No ClinGen
ESP
ExAC
gnomAD
CA5267315
rs758479945
197 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5267316
rs778105324
197 A>V No ClinGen
ExAC
gnomAD
rs1352431866
CA375064740
199 N>I No ClinGen
gnomAD
CA375064757
rs1329341512
200 V>E No ClinGen
TOPMed
gnomAD
CA375064752
rs140271016
200 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140271016
CA5267319
200 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375064772
rs1589477841
201 V>G No ClinGen
Ensembl
rs1169018240
CA375064851
206 S>N No ClinGen
TOPMed
rs560984157
CA5267322
207 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267323
rs560984157
207 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267321
rs768409176
207 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA375064875
rs1202612600
208 R>G No ClinGen
gnomAD
rs771642186
CA5267324
208 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA5267325
rs772648294
209 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA375064896
rs772648294
209 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA5267326
rs760631752
210 Q>* No ClinGen
ExAC
gnomAD
rs145492637
CA5267327
210 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375064935
rs1457056464
211 D>E No ClinGen
TOPMed
rs138000368
CA5267328
212 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA200422190
rs754465307
212 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1378604862
CA375064959
213 K>E No ClinGen
gnomAD
rs1378604862
CA375064957
213 K>Q No ClinGen
gnomAD
CA5267348
rs759292162
218 A>V No ClinGen
ExAC
gnomAD
CA200380846
rs924199144
219 Q>* No ClinGen
TOPMed
CA200380848
rs935554283
223 Q>* No ClinGen
Ensembl
rs907786176
CA200380850
223 Q>R No ClinGen
TOPMed
CA375062731
rs1258225200
225 S>P No ClinGen
TOPMed
CA5267349
rs765041696
226 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375062741
rs1250298573
227 Q>K No ClinGen
gnomAD
rs1486296306
CA375062744
227 Q>R No ClinGen
gnomAD
CA5267350
rs752533632
233 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs939240747
CA200380859
233 R>H No ClinGen
TOPMed
gnomAD
CA375062819
rs752533632
233 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs763127314
CA5267351
234 L>P No ClinGen
ExAC
gnomAD
CA375062879
rs1455581314
235 A>V No ClinGen
gnomAD
rs1589478341
CA375062889
236 L>W No ClinGen
Ensembl
CA375062907
rs1351687434
237 E>* No ClinGen
TOPMed
TCGA novel 237 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5267352
rs764287821
238 Q>* No ClinGen
ExAC
gnomAD
CA200380876
rs992183941
239 L>V No ClinGen
TOPMed
rs1465403060
CA375062987
241 E>Q No ClinGen
gnomAD
CA5267354
rs757295652
243 L>P No ClinGen
ExAC
gnomAD
rs1287177848
CA375063086
245 P>L No ClinGen
gnomAD
rs1043826382
CA375063114
CA200380882
247 H>Q No ClinGen
TOPMed
gnomAD
CA375063121
rs1270363868
248 P>A No ClinGen
gnomAD
rs756497660
CA5267357
250 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM295757
rs201793972
CA5267358
250 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1254467284
CA375064453
252 R>K No ClinGen
gnomAD
CA200380905
rs1038769989
253 V>M No ClinGen
Ensembl
CA5267359
rs200481836
254 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs771744489
CA5267360
255 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5267361
rs536513523
255 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA375064569
rs1418461555
257 L>S No ClinGen
TOPMed
CA375064589
rs776506971
258 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA5267364
rs776506971
258 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5267362
rs746463444
258 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375064612
rs1413696458
259 A>T No ClinGen
TOPMed
gnomAD
CA5267365
rs745785845
259 A>V No ClinGen
ExAC
gnomAD
rs769758916
CA5267366
260 A>P No ClinGen
ExAC
gnomAD
rs200867685
CA5267367
260 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1589478512
CA375064650
261 V>G No ClinGen
Ensembl
CA5267369
rs200583902
262 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 262 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5267370
rs563299465
263 G>E No ClinGen
ExAC
gnomAD
rs886364298
CA200380946
264 Y>* No ClinGen
TOPMed
gnomAD
rs761911188
CA5267371
264 Y>C No ClinGen
ExAC
gnomAD
CA5267372
rs767727865
265 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs767727865
CA375064746
265 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1218943989
CA375064737
265 P>S No ClinGen
gnomAD
CA375064751
rs1211891574
266 Q>K No ClinGen
gnomAD
rs749294521
CA200380977
267 P>L No ClinGen
Ensembl
CA5267374
rs756685759
267 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA375064822
rs1207467147
268 S>L No ClinGen
gnomAD
TCGA novel 271 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767051388
CA5267377
271 P>L No ClinGen
ExAC
gnomAD
rs754199667
CA5267378
272 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 273 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1427048875
CA375064953
274 P>A No ClinGen
gnomAD
rs746666401
CA200381034
276 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA5267381
rs746666401
276 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1323541659
CA375065044
279 G>R No ClinGen
TOPMed
rs776823760
CA5267420
280 T>S No ClinGen
ExAC
gnomAD
CA5267422
rs377120914
284 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267423
rs141840709
284 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 287 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 290 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5267426
rs767087494
292 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA375065947
rs1234903288
292 L>V No ClinGen
TOPMed
CA5267427
rs750106502
293 T>K No ClinGen
ExAC
gnomAD
rs1445834577
CA375065968
294 A>T No ClinGen
TOPMed
gnomAD
rs779409698
CA5267429
296 P>L No ClinGen
ExAC
gnomAD
rs1227728873
CA375066009
297 G>R No ClinGen
gnomAD
CA5267430
rs537996467
298 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754859270
CA5267431
298 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1205568219
CA375066055
300 P>S No ClinGen
gnomAD
CA375066063
rs370572604
301 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267434
rs370572604
301 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM357443
rs370572604
CA5267433
301 A>V lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA200384984
rs891451595
302 A>T No ClinGen
TOPMed
rs1475793722
CA375066069
303 A>T No ClinGen
gnomAD
rs771323662
CA5267437
305 A>V No ClinGen
ExAC
gnomAD
rs759716404
CA5267439
306 S>N No ClinGen
ExAC
gnomAD
rs140830817
CA5267438
306 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759716404
CA375066107
306 S>T No ClinGen
ExAC
gnomAD
rs1564374103
CA375066123
307 S>R No ClinGen
Ensembl
rs770137433
CA5267440
309 S>F No ClinGen
ExAC
gnomAD
rs75008607
CA200385052
310 E>A No ClinGen
Ensembl
CA5267443
rs372991211
310 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375066196
rs1564374128
311 G>D No ClinGen
Ensembl
rs1352724703
CA375066193
311 G>R No ClinGen
TOPMed
CA5267447
rs144703543
314 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267446
rs144703543
314 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201413988
CA5267445
314 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA375066265
rs1409342809
315 T>A No ClinGen
gnomAD
CA375066277
rs1286366783
316 K>T No ClinGen
TOPMed
gnomAD
rs753231218
CA5267449
319 H>Q No ClinGen
ExAC
gnomAD
rs534189894
CA5267450
321 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA5267451
rs370067044
321 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267452
rs752705620
323 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs758462075
CA5267453
323 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 324 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA200385112
rs1014967827
324 G>D No ClinGen
TOPMed
CA5267456
rs140077098
325 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440076307
CA375066474
326 L>P No ClinGen
TOPMed
gnomAD
rs1440076307
CA375066473
326 L>R No ClinGen
TOPMed
gnomAD
rs199826404
CA5267478
328 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5267479
rs576187132
329 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267480
rs769138655
330 V>A No ClinGen
ExAC
gnomAD
rs769138655
CA375068036
330 V>G No ClinGen
ExAC
gnomAD
TCGA novel 330 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375068062
CA375068064
rs748472968
333 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs748472968
CA5267482
333 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1589485626
CA375068087
335 K>T No ClinGen
Ensembl
CA375068098
rs1388559897
336 V>M No ClinGen
gnomAD
CA200385314
rs72758841
337 D>H No ClinGen
1000Genomes
TOPMed
gnomAD
CA5267484
rs772510422
338 N>D No ClinGen
ExAC
gnomAD
rs998268749
CA200385329
339 R>C No ClinGen
TOPMed
gnomAD
rs773500708
CA5267485
339 R>H No ClinGen
ExAC
gnomAD
CA200385350
rs547402411
340 V>I No ClinGen
gnomAD
CA375068167
rs1265367962
341 V>A No ClinGen
gnomAD
CA5267486
rs759197568
341 V>M No ClinGen
ExAC
gnomAD
rs764868009
CA5267487
344 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1208047616
CA375068246
345 G>A No ClinGen
TOPMed
CA200385370
rs55948654
346 W>* No ClinGen
gnomAD
rs762570387
CA5267490
346 W>L No ClinGen
ExAC
TOPMed
gnomAD
CA5267491
rs375779089
347 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375068321
rs1589485762
349 V>G No ClinGen
Ensembl
CA375068315
rs1276576592
349 V>M No ClinGen
TOPMed
rs150025953
CA375068344
351 E>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150025953
CA5267495
351 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1385659192
CA375068356
352 Q>E No ClinGen
TOPMed
CA375068362
rs145409935
352 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267496
rs145409935
352 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267498
rs774759313
353 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA375068379
rs774759313
353 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs780313147
CA5267497
353 S>P No ClinGen
ExAC
gnomAD
CA375068407
rs1228666395
355 D>G No ClinGen
gnomAD
rs149211383
CA5267499
355 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267500
rs779345869
356 Q>E No ClinGen
ExAC
gnomAD
rs1172384585
CA375068469
360 I>L No ClinGen
TOPMed
CA5267502
rs142070198
363 E>D No ClinGen
ESP
ExAC
gnomAD
CA200385470
rs1014853316
363 E>K No ClinGen
TOPMed
rs115678685
CA5267503
364 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5267531
rs760414400
366 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs766142138
CA5267532
366 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA5267533
rs776452671
367 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA200385662
rs976178792
368 L>V No ClinGen
TOPMed
TCGA novel 371 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1241489859
CA375068698
371 G>W No ClinGen
gnomAD
rs1300466351
CA375068724
372 V>I No ClinGen
TOPMed
gnomAD
rs1300466351
CA375068730
372 V>L No ClinGen
TOPMed
gnomAD
rs1386623302
CA375068777
373 H>R No ClinGen
gnomAD
CA375068819
rs1350332026
374 W>* No ClinGen
gnomAD
CA5267536
rs557099498
375 R>Q No ClinGen
ExAC
gnomAD
rs1047193647
CA200385679
375 R>W No ClinGen
TOPMed
rs1589486147
COSM4007063
CA375068871
376 D>G urinary_tract [Cosmic] No ClinGen
cosmic curated
Ensembl
rs758417384
CA5267537
377 W>R No ClinGen
ExAC
gnomAD
CA375068916
rs886764421
378 R>G No ClinGen
TOPMed
gnomAD
rs764618362
CA375068924
378 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs764618362
CA5267538
378 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA200385694
rs886764421
378 R>W No ClinGen
TOPMed
gnomAD
CA200385711
rs1048811555
380 L>I No ClinGen
TOPMed
gnomAD
CA375069004
rs1589486193
381 C>W No ClinGen
Ensembl
rs781660120
CA5267542
383 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781660120
CA5267541
383 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1454455465
CA375069061
384 A>D No ClinGen
gnomAD
CA375069142
rs1167358788
388 L>F No ClinGen
gnomAD
CA5267543
rs543209721
394 N>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1564374589
CA375069296
394 N>S No ClinGen
Ensembl
rs543209721
CA5267544
394 N>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1411206759
CA375069330
396 C>* No ClinGen
gnomAD
CA200385731
rs908923569
396 C>Y No ClinGen
TOPMed
CA5267545
rs747628085
397 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA375069358
rs1355701001
398 Q>* No ClinGen
gnomAD
CA375069392
rs1324318558
400 S>F No ClinGen
gnomAD
rs1373408849
CA375069395
401 L>F No ClinGen
gnomAD
VAR_050565
rs12932
CA5267548
404 V>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5267549
rs770923878
405 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1589486304
CA375069490
409 L>V No ClinGen
Ensembl
CA5267551
rs759337171
411 A>V No ClinGen
ExAC
gnomAD
CA5267552
rs765430335
412 Q>R No ClinGen
ExAC
gnomAD
rs766620262
CA5267579
414 T>I No ClinGen
ExAC
rs766620262
CA375069595
414 T>N No ClinGen
ExAC
rs1352344578
CA375069648
417 D>Y No ClinGen
TOPMed
gnomAD
rs757971551
CA5267581
418 P>L No ClinGen
ExAC
gnomAD
rs1484396257
CA375069689
419 V>F No ClinGen
gnomAD
rs751000614
CA5267583
420 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs781055201
CA5267585
420 I>T No ClinGen
ExAC
gnomAD
rs751000614
CA5267584
420 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1486291972
CA375069730
422 R>S No ClinGen
gnomAD
rs745787517
CA5267586
423 R>Q No ClinGen
ExAC
gnomAD
CA200386221
COSM1460311
rs1030805889
423 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs145344292
CA5267587
424 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 424 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1471382562
CA375069737
424 P>S No ClinGen
gnomAD
rs141019196
CA5267589
425 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs41275912
CA5267588
425 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375069754
rs1375939033
427 Q>H No ClinGen
TOPMed
gnomAD
CA375069759
rs1308683471
428 R>T No ClinGen
TOPMed
TCGA novel 430 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 430 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5267591
COSM1220821
rs200958296
431 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs200958296
CA200386227
431 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1326821744
CA375069780
431 R>P No ClinGen
gnomAD
rs200958296
CA5267592
431 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 432 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372123292
CA375069789
433 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372123292
CA5267594
433 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1302229733
CA375069799
434 S>C No ClinGen
TOPMed
gnomAD
CA200386247
rs961822730
434 S>P No ClinGen
TOPMed
rs1435935768
CA375069808
435 K>N No ClinGen
TOPMed
CA5267595
rs201340158
436 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200438464
CA200386255
436 R>H No ClinGen
1000Genomes
TOPMed
CA200386257
rs200438464
436 R>L No ClinGen
1000Genomes
TOPMed
CA375069809
rs201340158
436 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs779228645
CA5267608
440 D>H No ClinGen
ExAC
gnomAD
TCGA novel 444 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5267610
rs772489304
445 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA375069883
rs1474050000
446 Q>* No ClinGen
TOPMed
rs771273797
CA5267613
447 M>L No ClinGen
ExAC
gnomAD
CA5267614
rs777223035
447 M>R No ClinGen
ExAC
rs1011482820
CA200386399
449 L>R No ClinGen
Ensembl
CA5267616
rs73669966
450 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371936211
CA5267619
452 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267617
rs775876601
452 A>T No ClinGen
ExAC
gnomAD
rs371936211
CA5267618
452 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267621
rs139012351
454 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375069957
rs1589487219
455 G>E No ClinGen
Ensembl
RCV001196477
CA5267622
rs766188402
455 G>W No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA5267623
rs753836061
COSM1460312
456 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs536918275
CA5267624
456 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267627
rs373783574
458 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778143168
CA5267628
459 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA375070070
rs1333136477
462 L>P No ClinGen
gnomAD
rs1485672035
CA375070119
464 P>L No ClinGen
gnomAD
rs1203415053
CA375070141
465 C>F No ClinGen
TOPMed
gnomAD
rs1216019307 465 C>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs377599116
CA5267629
466 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267632
rs370634438
COSM3327622
468 P>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5267631
rs370634438
468 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375070248
rs1415656661
469 S>G No ClinGen
TOPMed
gnomAD
CA5267635
rs201364965
471 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1362811690
CA375070333
472 S>G No ClinGen
gnomAD
CA375070344
rs1195205784
472 S>N No ClinGen
TOPMed
CA375070353
rs377311012
472 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267637
rs772950783
473 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA375070361
rs772950783
473 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs765891441
CA5267640
474 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA375070397
rs1214624572
474 P>L No ClinGen
TOPMed
CA5267639
rs765891441
474 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA200386564
rs765891441
474 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs754952764
CA375070424
476 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 476 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754952764
CA5267641
476 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA5267644
rs775289389
479 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752472485
CA5267643
479 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs969769129
CA200386630
480 T>I No ClinGen
gnomAD
rs1589487429
CA375070498
480 T>P No ClinGen
Ensembl
rs777806092
CA5267645
482 T>A No ClinGen
ExAC
gnomAD
CA5267646
rs747228163
483 T>A No ClinGen
ExAC
gnomAD
rs757457708
CA5267647
483 T>I No ClinGen
ExAC
gnomAD
rs1589487460
CA375070587
484 L>R No ClinGen
Ensembl
rs200637064
COSM3847779
CA200386645
485 R>* Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs781332086
CA5267648
485 R>Q No ClinGen
ExAC
gnomAD
rs200435271
CA5267649
487 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA375070694
rs1372616243
488 S>F No ClinGen
TOPMed
CA5267650
rs770230806
489 D>A No ClinGen
ExAC
gnomAD
rs981474029
CA200386650
490 P>L No ClinGen
Ensembl
rs780546405
CA5267651
490 P>S No ClinGen
ExAC
gnomAD
rs1431883737
CA375070742
491 A>T No ClinGen
gnomAD
CA375071226
rs1211412830
496 F>L No ClinGen
gnomAD
rs548000293
CA5267684
498 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1185433021
CA375071322
501 T>I No ClinGen
TOPMed
gnomAD
CA375071319
rs1185433021
501 T>N No ClinGen
TOPMed
gnomAD
rs761519542
CA5267686
502 P>H No ClinGen
ExAC
TOPMed
gnomAD
COSM1701805
rs761519542
CA375071345
502 P>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5267689
rs147486451
504 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA200387042
rs1016413869
505 E>K No ClinGen
TOPMed
TCGA novel 506 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5267690
rs536656541
508 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 508 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5267692
rs202027236
509 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1437214152
CA375071529
509 P>H No ClinGen
gnomAD
CA375071525
rs202027236
509 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267691
rs202027236
509 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779291228
CA5267693
510 P>Q No ClinGen
ExAC
gnomAD
CA200387069
rs868811810
514 P>L No ClinGen
Ensembl
rs778329029
CA5267696
515 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs56208848
CA5267697
515 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs56208848
CA375071631
515 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375071663
rs1274584259
517 Y>H No ClinGen
gnomAD
rs553100465
CA5267701
520 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
CA5267700
rs553100465
520 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 520 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375071831
rs768574963
522 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs768574963
CA5267702
522 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs767195662
CA5267705
525 E>K No ClinGen
ExAC
gnomAD
rs1317952953 528 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs750891213
CA5267708
528 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs760882822
CA5267707
528 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA5267729
rs766441382
529 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA375072256
rs766441382
529 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA200387242
rs376943562
529 R>H No ClinGen
TOPMed
gnomAD
rs150658893
CA375072402
532 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765197601
CA5267731
532 R>H No ClinGen
ExAC
gnomAD
rs150658893
CA5267730
532 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1240182668
CA375072509
533 P>R No ClinGen
gnomAD
CA375072561
rs1345166631
534 H>R No ClinGen
gnomAD
rs764714294
CA375072595
CA5267734
535 M>I No ClinGen
ExAC
TOPMed
TCGA novel 535 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1037767691
CA200387263
536 E>G No ClinGen
Ensembl
CA375072746
rs1368526050
539 T>S No ClinGen
TOPMed
CA5267735
rs751910390
540 R>* No ClinGen
ExAC
gnomAD
rs757729788
CA5267736
540 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5267738
rs182601722
541 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267737
rs182601722
541 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267739
rs754701201
542 G>R No ClinGen
ExAC
gnomAD
CA5267741
rs747752598
543 P>A No ClinGen
ExAC
gnomAD
CA375072846
rs747752598
543 P>S No ClinGen
ExAC
gnomAD
rs1179289562
CA375073049
547 A>T No ClinGen
gnomAD
CA5267744
rs746757902
549 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs770109358
CA5267748
551 R>M No ClinGen
ExAC
gnomAD
CA5267776
rs200442875
551 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA200387679
rs56277381
552 K>E No ClinGen
Ensembl
rs1446547043
CA375073451
553 P>L No ClinGen
gnomAD
CA5267777
rs114084183
553 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1190916290
CA375073455
554 P>T No ClinGen
gnomAD
rs368910557
CA375073475
555 R>G No ClinGen
ExAC
gnomAD
CA5267779
rs369261081
555 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267778
rs368910557
555 R>W No ClinGen
ExAC
gnomAD
rs763586720
CA5267780
556 L>P No ClinGen
ExAC
gnomAD
CA5267781
rs751123891
560 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1220820
CA5267782
rs757126152
560 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375073625
rs757126152
560 R>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1496960
rs1382243468
CA375073725
564 V>M kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1383604329
CA375073759
566 G>V No ClinGen
gnomAD
CA5267785
rs146680071
567 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200554823
CA5267784
567 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1342951945
CA375073783
568 G>E No ClinGen
TOPMed
gnomAD
CA5267806
rs779894977
575 L>M No ClinGen
ExAC
gnomAD
CA5267808
rs755195981
CA375075195
577 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA5267807
rs749153614
577 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA375075200
rs1210042757
578 F>C No ClinGen
TOPMed
gnomAD
CA375075215
rs1254250726
580 G>E No ClinGen
gnomAD
rs779283647
CA5267809
581 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA375075228
rs1249324628
582 G>E No ClinGen
TOPMed
gnomAD
CA375075230
rs1404523423
583 K>E No ClinGen
TOPMed
CA5267811
rs528820099
583 K>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1380355987
CA375075252
586 A>T No ClinGen
TOPMed
gnomAD
CA200389117
rs982043108
587 I>S No ClinGen
TOPMed
rs1181439713
CA375075284
COSM1220818
590 L>P large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1184734160
CA375075325
593 Q>* No ClinGen
TOPMed
TCGA novel 595 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5267815
rs776918914
595 V>L No ClinGen
ExAC
gnomAD
rs370437812
CA5267816
597 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5267817
rs541998479
597 S>T No ClinGen
1000Genomes
ExAC
gnomAD
CA375075391
rs1311798366
598 R>Q No ClinGen
gnomAD
CA5267818
rs140230260
598 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 600 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375075412
rs1443634612
600 E>K No ClinGen
TOPMed
CA200389880
rs896357885
603 S>R No ClinGen
Ensembl
rs1405172093
CA375075586
604 L>V No ClinGen
gnomAD
rs1218685598
CA375075609
606 C>R No ClinGen
gnomAD
rs549258373
CA5267844
COSM1137959
607 E>K kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1263180945
CA375075660
609 R>Q No ClinGen
gnomAD
rs759585265
CA5267845
609 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1020964055
CA200389888
613 A>P No ClinGen
Ensembl
CA375075735
rs1589490986
614 V>G No ClinGen
Ensembl
TCGA novel 615 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA200389889
rs968148279
617 T>A No ClinGen
gnomAD
rs752493287
CA5267847
618 G>W No ClinGen
ExAC
gnomAD
rs77779228
CA200389890
619 H>D No ClinGen
gnomAD
rs758584175
CA5267848
619 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA375075827
rs77779228
619 H>Y No ClinGen
gnomAD
rs1338348951
CA375076040
626 L>F No ClinGen
gnomAD
CA375076050
rs1589491056
626 L>P No ClinGen
Ensembl
rs1589491088
CA375076185
631 T>P No ClinGen
Ensembl
rs1589491100
CA375076209
632 S>P No ClinGen
Ensembl
CA375076536
rs1226236295
642 V>M No ClinGen
gnomAD
rs377160871
CA5267853
643 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA200389899
rs954240422
644 G>R No ClinGen
Ensembl
CA5267854
rs770355723
651 I>F No ClinGen
ExAC
gnomAD
CA375076830
rs780457846
652 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5267856
rs200678606
653 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA375076871
rs1229588508
654 D>N No ClinGen
gnomAD
rs1283034598
CA375076915
655 V>D No ClinGen
TOPMed
gnomAD
rs771689221
CA5267857
657 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA375076986
rs1264325842
658 E>K No ClinGen
TOPMed
gnomAD
rs760185888
CA5267859
659 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs1007688598
CA200389921
660 Q>H No ClinGen
TOPMed
gnomAD
CA5267861
rs776345506
660 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs56147168
CA5267862
661 A>G No ClinGen
1000Genomes
ExAC
gnomAD
CA5267863
rs765278398
662 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149051723
CA5267864
662 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs529311654
CA5267883
663 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5267884
COSM98954
rs763767828
664 Y>C stomach [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5267886
rs762012967
665 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs767743873
CA5267887
667 C>Y No ClinGen
ExAC
gnomAD
rs199899395
CA5267888
668 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA5267890
rs766861864
671 G>A No ClinGen
ExAC
gnomAD
CA375078511
CA5267889
rs756219008
671 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs755573862
CA5267893
677 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
CA5267894
rs73625290
678 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748535515
CA5267895
679 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs747170999 679 K>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1432822771
CA375078777
684 D>E No ClinGen
TOPMed
CA375078875
rs1458941941
690 L>R No ClinGen
gnomAD
CA375078865
rs1366355286
690 L>V No ClinGen
gnomAD
CA5267929
rs773033212
696 G>E No ClinGen
ExAC
CA375079054
rs760793169
700 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA200390655
rs554389616
702 D>G No ClinGen
1000Genomes
rs896061143
CA200390665
706 C>R No ClinGen
TOPMed
rs1185233034
CA375079151
707 K>R No ClinGen
TOPMed
rs916861074
CA200390666
708 E>D No ClinGen
TOPMed
rs1247038247
CA375079160
708 E>K No ClinGen
TOPMed
gnomAD
rs1358274477
CA375080639
709 G>V No ClinGen
TOPMed
CA5267959
rs763877661
710 I>MGLQA* No ClinGen
ExAC
CA5267961
rs534305857
711 G>D No ClinGen
1000Genomes
ExAC
gnomAD
CA375080667
rs1186132951
711 G>S No ClinGen
Ensembl
CA5267963
rs147008776
712 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM48680
CA5267964
rs758262540
713 G>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA375080814
rs1399850962
714 D>H No ClinGen
gnomAD
CA200391358
rs1017240248
715 R>L No ClinGen
TOPMed
gnomAD
rs1017240248
COSM1496959
CA200391359
715 R>Q kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs777715456
CA5267965
715 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA375080883
rs1188811801
716 T>S No ClinGen
TOPMed
CA5267966
rs368665975
718 T>I No ClinGen
ESP
ExAC
gnomAD
CA375081098
rs1313667805
722 T>S No ClinGen
gnomAD
CA5267968
rs780888710
723 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1223910354
CA375081115
723 P>S No ClinGen
gnomAD
CA375081215
rs1294866196
726 L>M No ClinGen
gnomAD
CA5267970
rs574368046
728 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1191114928
CA375081297
729 E>K No ClinGen
TOPMed
gnomAD
CA375081356
rs1589495993
730 V>G No ClinGen
Ensembl
rs759466266
CA5267972
730 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1293332362
CA375081385
732 T>A No ClinGen
TOPMed
rs769246611
CA5267973
733 Q>R No ClinGen
ExAC
gnomAD
CA200391391
rs971466728
736 Y>N No ClinGen
Ensembl
rs377598367
CA5267974
737 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA200391399
rs762279700
738 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA375081538
rs1291657624
738 R>Q No ClinGen
gnomAD
CA5267975
rs762279700
738 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5267978
rs759128835
740 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA5267977
rs773519002
740 V>M No ClinGen
ExAC
gnomAD
TCGA novel 744 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5267980
rs752159330
745 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA5267981
rs757921582
746 G>V No ClinGen
ExAC
gnomAD
CA5267983
rs751482393
748 L>M No ClinGen
ExAC
gnomAD
CA375081819
rs1264151007
748 L>P No ClinGen
gnomAD
CA375081932
rs1200829540
750 Y>C No ClinGen
gnomAD
CA5267987
rs750200385
751 E>K No ClinGen
ExAC
gnomAD
rs1589496139
CA375082077
754 V>G No ClinGen
Ensembl
CA375082142
rs1589496158
756 E>G No ClinGen
Ensembl
CA200391527
rs962206838
757 C>* No ClinGen
TOPMed
rs750203427
CA5268011
758 P>L No ClinGen
ExAC
gnomAD
CA5268013
rs780047761
762 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA5268014
rs754085315
765 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA375082721
rs1279581779
765 E>K No ClinGen
TOPMed
rs1318760301
CA375082824
766 E>D No ClinGen
gnomAD
CA375082956
rs1304285762
769 D>E No ClinGen
gnomAD
rs1445326185
CA375082919
769 D>H No ClinGen
TOPMed
gnomAD
rs1445326185
CA375082917
769 D>N No ClinGen
TOPMed
gnomAD
CA5268017
rs139077812
772 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143005041
CA5268019
773 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143005041
CA5268018
773 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1407569119
CA375083082
774 M>V No ClinGen
TOPMed
gnomAD
rs373607826
CA5268020
775 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375083165
rs1208281885
776 A>D No ClinGen
gnomAD
rs777045732
CA5268022
776 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1038296106
CA200391631
778 Y>F No ClinGen
Ensembl
CA375083248
rs1461777521
778 Y>N No ClinGen
gnomAD
CA5268025
rs201467569
780 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760938513
CA5268027
783 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA5268026
rs760938513
783 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA5268029
rs760738676
784 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA375083557
rs1343850284
786 G>V No ClinGen
TOPMed
rs1178073472
CA375083574
787 L>P No ClinGen
gnomAD
CA375083595
rs1406389931
788 E>G No ClinGen
TOPMed
gnomAD
CA5268031
rs753746649
789 F>L No ClinGen
ExAC
gnomAD
CA375084119
rs1449762224
798 P>L No ClinGen
TOPMed
gnomAD
CA375084140
rs1269313661
799 E>G No ClinGen
gnomAD
CA200391891
rs1045650856
799 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA200391892
rs867731638
800 K>E No ClinGen
Ensembl
rs138407169
CA5268059
801 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5268058
rs138407169
801 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375084199
rs1297760574
801 R>H No ClinGen
TOPMed
rs747755433
CA5268062
803 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1031769231
CA200391920
805 G>D No ClinGen
TOPMed
gnomAD
CA5268065
rs376529565
808 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371913170
CA200391932
809 A>T No ClinGen
ESP
TOPMed
gnomAD
CA5268068
rs759554821
810 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA375084524
rs1228478880
816 P>S No ClinGen
gnomAD
rs764933214
CA5268069
817 F>C No ClinGen
ExAC
gnomAD
TCGA novel 821 T>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5268093
rs774536921
822 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1157627124
CA375084728
824 Q>E No ClinGen
gnomAD
CA200392020
rs976322050
824 Q>R No ClinGen
Ensembl
TCGA novel 827 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750578660
CA5268096
828 A>D No ClinGen
ExAC
gnomAD
rs767580528
CA5268095
828 A>T Variant assessed as Somatic; 4.743e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1454614362
CA375084836
829 R>C No ClinGen
gnomAD
CA5268097
rs761034678
829 R>H No ClinGen
ExAC
gnomAD
rs1276721705
CA375084888
831 I>L No ClinGen
gnomAD
CA200392039
rs982404130
833 P>S No ClinGen
Ensembl
CA5268100
rs754115435
834 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs754115435
CA5268099
834 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1389594776
CA375085025
834 P>S No ClinGen
gnomAD
CA5268101
rs779458392
835 F>V No ClinGen
ExAC
gnomAD
CA375085046
rs1442256864
835 F>Y No ClinGen
TOPMed
rs757025045
CA5268103
836 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs757025045
CA5268104
836 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745388425
CA5268105
837 P>H No ClinGen
ExAC
gnomAD
rs190481477
CA200392062
838 T>N No ClinGen
1000Genomes
CA375085149
rs1256852734
839 L>M No ClinGen
gnomAD
rs1033579987
CA200392081
840 C>Y No ClinGen
TOPMed
gnomAD
CA5268109
rs553161560
843 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA375085409
rs1589497642
844 D>A No ClinGen
Ensembl
TCGA novel 844 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1589497657
CA375085446
846 R>C No ClinGen
Ensembl
rs1396634738
CA375085450
846 R>H No ClinGen
TOPMed
CA5268111
rs762010790
850 G>D No ClinGen
ExAC
gnomAD
CA5268113
rs146395892
851 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146395892
CA375085607
851 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5268114
rs201035165
856 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777161734
CA5268116
862 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA375085973
rs777161734
862 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1347227899
CA375085992
864 P>S No ClinGen
gnomAD
rs1223740645
CA375086036
865 H>Y No ClinGen
gnomAD
TCGA novel 866 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5268118
rs765680291
866 S>N No ClinGen
ExAC
gnomAD
CA375086175
rs1206031482
868 L>P No ClinGen
gnomAD
rs756902558
CA5268120
869 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1589497804
CA375086235
870 A>V No ClinGen
Ensembl
CA5268122
rs752180593
871 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5268123
rs373837557
871 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375086291
rs1481663664
873 Q>E No ClinGen
gnomAD
CA375086350
rs1174765476
874 A>T No ClinGen
gnomAD
TCGA novel 875 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375086494
rs778625869
877 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA5268127
rs778625869
877 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5268126
rs754968087
877 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139733366
CA5268129
880 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747232770
CA5268131
881 F>L No ClinGen
ExAC
gnomAD
CA200392189
rs771037041
885 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5268132
rs771037041
885 R>G No ClinGen
ExAC
gnomAD
rs574891762
CA5268133
885 R>L No ClinGen
1000Genomes
ExAC
gnomAD
rs574891762
CA5268134
885 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA5268135
rs544051828
888 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1251311511
CA375086978
889 P>S No ClinGen
TOPMed

No associated diseases with Q6P5Z2

5 regional properties for Q6P5Z2

Type Name Position InterPro Accession
domain Protein kinase domain 249 - 500 IPR000719
active_site Serine/threonine-protein kinase, active site 364 - 376 IPR008271
binding_site Protein kinase, ATP binding site 255 - 278 IPR017441
domain p21 activated kinase binding domain 72 - 117 IPR033923
domain p21-activated kinase 2, catalytic domain 229 - 524 IPR035064

Functions

Description
EC Number 2.7.11.13 Protein-serine/threonine kinases
Subcellular Localization
  • Nucleus
  • Cytoplasm, perinuclear region
  • Nuclear and perinuclear Golgi region
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.

6 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
diacylglycerol-dependent serine/threonine kinase activity Catalysis of the reaction
protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction
protein serine kinase activity Catalysis of the reactions
protein serine/threonine kinase activity Catalysis of the reactions
small GTPase binding Binding to a small monomeric GTPase.

4 GO annotations of biological process

Name Definition
epithelial cell migration The orderly movement of an epithelial cell from one site to another, often during the development of a multicellular organism.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
protein phosphorylation The process of introducing a phosphate group on to a protein.
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.

40 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P24583 PKC1 Protein kinase C-like 1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) SS
A1A4I4 PKN1 Serine/threonine-protein kinase N1 Bos taurus (Bovine) SS
P83099 Pkcdelta Putative protein kinase C delta type homolog Drosophila melanogaster (Fruit fly) PR
A1Z7T0 Pkn Serine/threonine-protein kinase N Drosophila melanogaster (Fruit fly) SS
Q96LW2 RSKR Ribosomal protein S6 kinase-related protein Homo sapiens (Human) PR
Q02156 PRKCE Protein kinase C epsilon type Homo sapiens (Human) SS
O15530 PDPK1 3-phosphoinositide-dependent protein kinase 1 Homo sapiens (Human) EV
Q05513 PRKCZ Protein kinase C zeta type Homo sapiens (Human) SS
P41743 PRKCI Protein kinase C iota type Homo sapiens (Human) EV
Q16512 PKN1 Serine/threonine-protein kinase N1 Homo sapiens (Human) EV
Q16513 PKN2 Serine/threonine-protein kinase N2 Homo sapiens (Human) EV
P24723 PRKCH Protein kinase C eta type Homo sapiens (Human) SS
Q04759 PRKCQ Protein kinase C theta type Homo sapiens (Human) PR
Q05655 PRKCD Protein kinase C delta type Homo sapiens (Human) SS
P17252 PRKCA Protein kinase C alpha type Homo sapiens (Human) EV
P05129 PRKCG Protein kinase C gamma type Homo sapiens (Human) SS
P05771 PRKCB Protein kinase C beta type Homo sapiens (Human) SS
P31751 AKT2 RAC-beta serine/threonine-protein kinase Homo sapiens (Human) EV SS
P31749 AKT1 RAC-alpha serine/threonine-protein kinase Homo sapiens (Human) EV
Q9Y243 AKT3 RAC-gamma serine/threonine-protein kinase Homo sapiens (Human) SS
Q96BR1 SGK3 Serine/threonine-protein kinase Sgk3 Homo sapiens (Human) SS
Q9HBY8 SGK2 Serine/threonine-protein kinase Sgk2 Homo sapiens (Human) SS
O00141 SGK1 Serine/threonine-protein kinase Sgk1 Homo sapiens (Human) PR
Q15208 STK38 Serine/threonine-protein kinase 38 Homo sapiens (Human) EV
Q9Y2H1 STK38L Serine/threonine-protein kinase 38-like Homo sapiens (Human) EV
Q6A1A2 PDPK2P Putative 3-phosphoinositide-dependent protein kinase 2 Homo sapiens (Human) PR
P23298 Prkch Protein kinase C eta type Mus musculus (Mouse) PR
Q02111 Prkcq Protein kinase C theta type Mus musculus (Mouse) PR
P16054 Prkce Protein kinase C epsilon type Mus musculus (Mouse) PR
P28867 Prkcd Protein kinase C delta type Mus musculus (Mouse) PR
P70268 Pkn1 Serine/threonine-protein kinase N1 Mus musculus (Mouse) SS
Q8BWW9 Pkn2 Serine/threonine-protein kinase N2 Mus musculus (Mouse) SS
Q8K045 Pkn3 Serine/threonine-protein kinase N3 Mus musculus (Mouse) SS
Q63433 Pkn1 Serine/threonine-protein kinase N1 Rattus norvegicus (Rat) SS
Q64617 Prkch Protein kinase C eta type Rattus norvegicus (Rat) PR
P09216 Prkce Protein kinase C epsilon type Rattus norvegicus (Rat) PR
P09215 Prkcd Protein kinase C delta type Rattus norvegicus (Rat) PR
O08874 Pkn2 Serine/threonine-protein kinase N2 Rattus norvegicus (Rat) SS
P34722 tpa-1 Protein kinase C-like 1 Caenorhabditis elegans PR
A7MBL8 pkn2 Serine/threonine-protein kinase N2 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MEEGAPRQPG PSQWPPEDEK EVIRRAIQKE LKIKEGVENL RRVATDRRHL GHVQQLLRSS
70 80 90 100 110 120
NRRLEQLHGE LRELHARILL PGPGPGPAEP VASGPRPWAE QLRARHLEAL RRQLHVELKV
130 140 150 160 170 180
KQGAENMTHT CASGTPKERK LLAAAQQMLR DSQLKVALLR MKISSLEASG SPEPGPELLA
190 200 210 220 230 240
EELQHRLHVE AAVAEGAKNV VKLLSSRRTQ DRKALAEAQA QLQESSQKLD LLRLALEQLL
250 260 270 280 290 300
EQLPPAHPLR SRVTRELRAA VPGYPQPSGT PVKPTALTGT LQVRLLGCEQ LLTAVPGRSP
310 320 330 340 350 360
AAALASSPSE GWLRTKAKHQ RGRGELASEV LAVLKVDNRV VGQTGWGQVA EQSWDQTFVI
370 380 390 400 410 420
PLERARELEI GVHWRDWRQL CGVAFLRLED FLDNACHQLS LSLVPQGLLF AQVTFCDPVI
430 440 450 460 470 480
ERRPRLQRQE RIFSKRRGQD FLRASQMNLG MAAWGRLVMN LLPPCSSPST ISPPKGCPRT
490 500 510 520 530 540
PTTLREASDP ATPSNFLPKK TPLGEEMTPP PKPPRLYLPQ EPTSEETPRT KRPHMEPRTR
550 560 570 580 590 600
RGPSPPASPT RKPPRLQDFR CLAVLGRGHF GKVLLVQFKG TGKYYAIKAL KKQEVLSRDE
610 620 630 640 650 660
IESLYCEKRI LEAVGCTGHP FLLSLLACFQ TSSHACFVTE FVPGGDLMMQ IHEDVFPEPQ
670 680 690 700 710 720
ARFYVACVVL GLQFLHEKKI IYRDLKLDNL LLDAQGFLKI ADFGLCKEGI GFGDRTSTFC
730 740 750 760 770 780
GTPEFLAPEV LTQEAYTRAV DWWGLGVLLY EMLVGECPFP GDTEEEVFDC IVNMDAPYPG
790 800 810 820 830 840
FLSVQGLEFI QKLLQKCPEK RLGAGEQDAE EIKVQPFFRT TNWQALLART IQPPFVPTLC
850 860 870 880
GPADLRYFEG EFTGLPPALT PPAPHSLLTA RQQAAFRDFD FVSERFLEP