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

567-590 (Activation loop from InterPro)

Target domain

426-711 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for Q9UQ88

Entry ID Method Resolution Chain Position Source
AF-Q9UQ88-F1 Predicted AlphaFoldDB

739 variants for Q9UQ88

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV002558699
CA337900554
rs1266756785
RCV001170012
237 R>Q Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA337913534
rs1354648264
3 D>G No ClinGen
gnomAD
CA337913339
rs1330444521
9 K>T No ClinGen
gnomAD
rs1453588821
CA337913320
10 V>L No ClinGen
TOPMed
rs941786604
CA16813391
11 K>R No ClinGen
TOPMed
rs1335016170
CA337913236
12 T>N No ClinGen
TOPMed
rs1458606649
CA337913204
13 L>F No ClinGen
TOPMed
CA337913212
rs1170346043
13 L>S No ClinGen
gnomAD
CA337913187
rs1570446043
14 D>G No ClinGen
Ensembl
rs1475774736
CA337913192
14 D>N No ClinGen
TOPMed
gnomAD
CA337913176
rs1416585950
15 E>K No ClinGen
gnomAD
rs775588540
CA530823
16 I>V No ClinGen
ExAC
gnomAD
CA337913127
rs1472497465
17 L>P No ClinGen
gnomAD
rs1233480421
CA337912971
22 R>Q No ClinGen
gnomAD
rs571630372
CA530822
23 R>K No ClinGen
1000Genomes
ExAC
TOPMed
CA337912962
rs1206751059
23 R>W No ClinGen
gnomAD
CA337912917
rs1456558990
25 E>K No ClinGen
gnomAD
CA16813377
rs908901739
26 Q>R No ClinGen
TOPMed
gnomAD
CA337912880
rs1557804825
27 E>K No ClinGen
Ensembl
rs1336755741
CA337912784
29 K>I No ClinGen
gnomAD
CA530817
rs376961550
34 R>C No ClinGen
ESP
ExAC
gnomAD
rs1280722947
CA337912666
34 R>H No ClinGen
gnomAD
rs1280722947
CA337912669
34 R>P No ClinGen
gnomAD
rs1240882997
CA337912633
35 L>F No ClinGen
TOPMed
CA337912630
rs1399083735
36 K>E No ClinGen
gnomAD
rs767014805 37 N>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA337912560
rs1462264338
37 N>I No ClinGen
gnomAD
CA337912566
rs1462264338
37 N>T No ClinGen
gnomAD
rs762879797
CA530767
38 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA337912072
rs1400220521
40 D>E No ClinGen
gnomAD
rs1187357536
CA337912088
40 D>H No ClinGen
gnomAD
CA337912086
rs1187357536
40 D>Y No ClinGen
gnomAD
CA530765
rs200953503
41 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776650584
CA530766
41 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA337912056
rs1232444133
42 D>H No ClinGen
TOPMed
CA337912000
rs760857763
44 K>N No ClinGen
ExAC
gnomAD
rs748452843
CA530761
45 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA530762
rs748452843
45 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs540105321
CA530763
45 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1418476394
CA337911945
49 E>K No ClinGen
TOPMed
gnomAD
rs1418476394
CA337911941
COSM48277
49 E>Q lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA530757
rs372225055
CA337911899
50 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA530754
rs188565066
51 G>E No ClinGen
1000Genomes
ExAC
TOPMed
CA530755
rs181359165
CA530756
51 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1195904652
CA337911869
52 E>G No ClinGen
gnomAD
rs1059832
CA530750
57 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs1059832
CA530751
VAR_060152
57 C>R No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA530749
rs763905836
57 C>S No ClinGen
ExAC
gnomAD
rs1419820840
CA337911775
58 M>V No ClinGen
TOPMed
rs1570441471
CA337911738
59 E>D No ClinGen
Ensembl
rs1177013253
CA337911729
60 I>L No ClinGen
TOPMed
rs1462432910
CA337911698
62 I>L No ClinGen
TOPMed
rs1570441450
CA337911695
62 I>R No ClinGen
Ensembl
CA16812465
rs565553918
64 N>K No ClinGen
ExAC
gnomAD
CA530747
rs368753784
66 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368753784
CA530746
66 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1247569295
CA337911628
66 P>S No ClinGen
gnomAD
rs201926274
CA16812436
67 Y>* No ClinGen
TOPMed
gnomAD
CA530744
rs773403139
67 Y>C No ClinGen
ExAC
gnomAD
CA337911595
rs1329634414
68 R>K No ClinGen
gnomAD
TCGA novel 70 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370759338
CA530743
72 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1164804426
CA337911522
72 S>P No ClinGen
gnomAD
rs774820411
CA530741
73 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA337911461
rs1441078198
75 D>G No ClinGen
gnomAD
rs770617385
CA16812415
76 R>K No ClinGen
TOPMed
rs770617385
CA337911432
76 R>T No ClinGen
TOPMed
rs771649177
CA530689
77 G>R No ClinGen
ExAC
gnomAD
rs747870830
CA530688
77 G>V No ClinGen
ExAC
gnomAD
CA530684
rs749100082
79 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA530683
rs201091435
79 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs749100082
CA337909462
79 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 80 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756131673
CA530682
80 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1274366317
CA337909432
80 D>V No ClinGen
TOPMed
TCGA novel 81 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1354369436
CA337909427
81 D>N No ClinGen
TOPMed
CA337909340
rs1360434615
84 A>G No ClinGen
gnomAD
CA530678
rs201674700
85 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1570432368
CA337909318
86 K>E No ClinGen
Ensembl
rs758644941
CA337909313
86 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs758644941
CA530677
86 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA337909296
rs1171761951
87 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs752941599
CA530676
87 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1193639926
CA337909252
90 Q>* No ClinGen
gnomAD
CA337909205
rs1442908347
91 M>I No ClinGen
TOPMed
CA530672
rs766815750
91 M>T No ClinGen
ExAC
gnomAD
rs1239244294
CA337909222
91 M>V No ClinGen
TOPMed
gnomAD
CA337909180
rs1414398401
92 S>F No ClinGen
TOPMed
gnomAD
VAR_062200
rs7531938
92 S>P No UniProt
dbSNP
rs1059831
CA337909175
93 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA530670
rs200755605
93 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_031716
VAR_057775
CA530671
rs1059831
93 R>W No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA337909123
rs1315882882
95 E>D No ClinGen
gnomAD
rs201838992
CA530668
96 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs72909030
CA530667
97 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA337909079
rs1187002514
98 H>N No ClinGen
TOPMed
rs768246706
CA530666
99 H>Y No ClinGen
ExAC
gnomAD
rs542603674
CA530664
100 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 100 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 100 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769812604
CA530662
101 K>R No ClinGen
ExAC
gnomAD
CA16808439
rs1028111893
104 K>* No ClinGen
TOPMed
CA530661
rs745820114
104 K>R No ClinGen
ExAC
gnomAD
CA337908883
rs1398497577
105 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 105 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337908867
rs1406393010
106 K>E No ClinGen
gnomAD
rs752787794
CA530658
106 K>N No ClinGen
ExAC
gnomAD
CA337908864
rs1416608708
106 K>R No ClinGen
gnomAD
COSM1335926
CA337908851
rs1238991773
107 E>G Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs779182274
CA530657
107 E>K No ClinGen
ExAC
gnomAD
CA16808408
rs201592416
108 K>E No ClinGen
1000Genomes
rs746108190
CA530591
109 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs1059830
VAR_062199
CA530655
109 W>C No ClinGen
UniProt
1000Genomes
ExAC
dbSNP
gnomAD
CA337906176
rs1431466897
110 K>* No ClinGen
gnomAD
CA337906163
rs1557794280
110 K>N No ClinGen
Ensembl
rs771167585
CA530590
111 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1203428468
CA337906059
113 R>T No ClinGen
gnomAD
rs112748730
CA530588
114 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA16805144
rs112748730
114 V>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs112748730
CA337906034
114 V>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778129644
CA530585
117 R>G No ClinGen
ExAC
gnomAD
CA16805111
rs200224067
117 R>K No ClinGen
Ensembl
rs200224067
CA337905940
117 R>T No ClinGen
Ensembl
rs752188532
CA530579
118 E>D No ClinGen
ExAC
gnomAD
rs1557794182
CA337905913
118 E>Q No ClinGen
Ensembl
rs754630865
CA530577
119 H>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA337905860
rs1336369850
120 E>K No ClinGen
gnomAD
rs1336369850
CA337905858
120 E>Q No ClinGen
gnomAD
CA530575
rs371899640
121 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766098874
CA530574
121 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750242434
CA530572
122 R>Q Variant assessed as Somatic; 4.824e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs760387372
CA530573
122 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1368996807
CA337905780
123 K>E No ClinGen
gnomAD
TCGA novel
CA530571
rs767371982
123 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
CA337905766
rs1189000654
123 K>R No ClinGen
gnomAD
rs199510897
CA530570
124 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA530568
rs374642406
124 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1274179044
CA337905711
125 H>L No ClinGen
TOPMed
gnomAD
rs1274179044
CA337905713
125 H>R No ClinGen
TOPMed
gnomAD
rs1240371604
CA337905701
126 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs776712506
CA530566
126 R>Q No ClinGen
ExAC
gnomAD
CA337905648
rs1266617537
127 E>* No ClinGen
gnomAD
CA530564
rs747279722
127 E>G No ClinGen
ExAC
gnomAD
CA337905637
rs747279722
127 E>V No ClinGen
ExAC
gnomAD
CA530563
rs570927461
128 E>* No ClinGen
1000Genomes
ExAC
gnomAD
CA530561
rs772669213
128 E>D No ClinGen
ExAC
gnomAD
CA337905622
rs570927461
128 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs201054761
CA530560
129 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA530559
rs527915790
129 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1328970747
CA337905544
130 D>G No ClinGen
gnomAD
CA337905551
rs1570415127
130 D>N No ClinGen
Ensembl
CA530558
rs754510372
131 K>E No ClinGen
ExAC
gnomAD
CA337905493
rs1164971376
132 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA530557
rs753458825
133 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA337905482
rs753458825
133 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs370418133
CA530555
133 R>H No ClinGen
ESP
ExAC
gnomAD
rs370418133
CA530556
133 R>L No ClinGen
ESP
ExAC
gnomAD
CA530551
COSM530211
rs751465521
134 R>Q lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA530552
rs200272503
134 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA337905457
rs542594220
135 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA530550
rs542594220
135 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759520770
CA530549
139 Q>E No ClinGen
ExAC
gnomAD
CA337905339
rs1361632246
139 Q>R No ClinGen
TOPMed
rs1354892963
CA337905305
140 K>N No ClinGen
gnomAD
rs776785110
CA530548
142 R>G No ClinGen
ExAC
rs1387090217
CA337905272
142 R>K No ClinGen
TOPMed
CA530546
rs760989414
142 R>S No ClinGen
ExAC
gnomAD
CA337905247
rs1291051298
143 E>G No ClinGen
gnomAD
rs748566008
CA530542
144 M>I No ClinGen
ExAC
gnomAD
CA530543
rs772544700
144 M>T No ClinGen
ExAC
rs769348783
CA337905203
145 A>P No ClinGen
ExAC
gnomAD
rs769348783
CA530540
145 A>S No ClinGen
ExAC
gnomAD
rs769348783
CA530541
145 A>T No ClinGen
ExAC
gnomAD
rs748675685
CA530539
147 E>K No ClinGen
ExAC
gnomAD
CA337905145
rs1331517082
148 H>Y No ClinGen
TOPMed
gnomAD
CA530537
rs779642694
149 S>C No ClinGen
ExAC
gnomAD
rs755670050
CA530536
150 R>W No ClinGen
ExAC
gnomAD
CA530535
COSM424451
rs745508835
151 R>K Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs531731523
CA530534
152 E>* No ClinGen
1000Genomes
ExAC
gnomAD
CA530532
rs751412468
153 R>K No ClinGen
ExAC
rs757040406
CA337905019
153 R>W No ClinGen
ExAC
gnomAD
CA337902786
rs1341885919
154 D>Y No ClinGen
gnomAD
rs1269187569
CA337902771
155 R>H No ClinGen
TOPMed
rs1334325365
CA337902753
156 L>M No ClinGen
gnomAD
TCGA novel 157 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337902681
rs1405746010
158 Q>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1334364056
CA337902625
160 E>G No ClinGen
gnomAD
rs1412068441
CA337902608
162 K>E No ClinGen
TOPMed
gnomAD
rs1228954480
CA337902593
163 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA337902570
rs1282580888
165 R>P No ClinGen
TOPMed
TCGA novel 165 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1230259082
CA337902548
167 R>C No ClinGen
TOPMed
gnomAD
CA337902526
rs1570402181
169 M>R No ClinGen
Ensembl
rs1570402181
CA337902525
169 M>T No ClinGen
Ensembl
CA337902511
rs1181927810
171 E>K No ClinGen
gnomAD
CA337902485
rs1411013842
172 Q>H No ClinGen
TOPMed
rs750591753
CA530506
174 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1247076120
CA337902442
176 Q>E No ClinGen
TOPMed
rs1188306273
CA337902437
176 Q>H No ClinGen
TOPMed
rs1557789975
CA337902431
177 R>L No ClinGen
Ensembl
CA337902432
rs1557789975
177 R>P No ClinGen
Ensembl
TCGA novel 177 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 177 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337902420
rs1461065468
179 Q>* No ClinGen
gnomAD
CA16802379
rs1055464360
179 Q>H No ClinGen
TOPMed
rs1230752100
CA337902399
182 R>C No ClinGen
TOPMed
rs1272281807
CA337902393
183 E>K No ClinGen
TOPMed
gnomAD
CA337902383
rs1228359722
184 R>Q No ClinGen
gnomAD
CA530502
rs762135149
185 R>Q No ClinGen
ExAC
gnomAD
CA530503
rs767793604
185 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751920527
CA337902373
186 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA530501
rs751920527
186 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA16802302
rs925624781
187 E>K No ClinGen
TOPMed
CA337902355
rs1353236141
189 R>P No ClinGen
TOPMed
gnomAD
rs1353236141
CA337902354
189 R>Q No ClinGen
TOPMed
gnomAD
rs55710038
CA530499
189 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA337902353
rs1406484736
190 R>S No ClinGen
TOPMed
gnomAD
CA337902346
rs1488421089
191 K>E No ClinGen
TOPMed
rs1245529748
CA337902328
192 E>D No ClinGen
TOPMed
rs1207364443
CA337902321
193 R>Q No ClinGen
TOPMed
rs1570401705
CA337902301
194 E>D No ClinGen
Ensembl
rs776054548
CA530497
194 E>Q No ClinGen
ExAC
CA337902298
rs1274108260
195 A>P No ClinGen
TOPMed
CA337902291
rs1161756757
196 R>C No ClinGen
TOPMed
gnomAD
rs1161756757
CA337902287
196 R>G No ClinGen
TOPMed
gnomAD
CA337902285
rs1444178149
196 R>H No ClinGen
gnomAD
CA337901287
rs1311052934
205 T>A No ClinGen
TOPMed
gnomAD
rs1490232127
CA337901282
205 T>M No ClinGen
TOPMed
CA337901275
rs1206359070
206 M>T No ClinGen
TOPMed
CA337901215
rs1307918312
208 E>K No ClinGen
TOPMed
CA337901194
rs1294744304
209 D>N No ClinGen
TOPMed
CA16801024
rs891480900
212 D>N No ClinGen
TOPMed
gnomAD
rs1437729580
CA337901090
214 V>M No ClinGen
gnomAD
rs1040708957
CA16801014
221 R>C No ClinGen
TOPMed
rs1343180348
CA337900917
221 R>H No ClinGen
TOPMed
rs1463835927
CA337900884
223 P>L No ClinGen
TOPMed
CA337900886
rs1463835927
223 P>R No ClinGen
TOPMed
rs1368021068
CA337900858
224 P>L No ClinGen
TOPMed
gnomAD
rs1432103614
CA337900843
225 R>Q No ClinGen
TOPMed
rs1301361553
CA337900850
225 R>W No ClinGen
TOPMed
gnomAD
CA337900820
rs1424177444
226 P>L No ClinGen
TOPMed
gnomAD
CA337900809
rs1480191273
227 P>L No ClinGen
TOPMed
CA337900794
rs1250513699
228 R>Q No ClinGen
TOPMed
CA337900803
rs1161614230
228 R>W No ClinGen
TOPMed
gnomAD
rs1008486738
CA16801009
229 E>K No ClinGen
TOPMed
rs1263682242
CA337900765
230 R>W No ClinGen
TOPMed
rs1320871880
CA337900671
232 E>D No ClinGen
TOPMed
CA337900607
rs1222019469
235 D>N No ClinGen
TOPMed
gnomAD
rs1481343352
CA337900558
237 R>W No ClinGen
TOPMed
gnomAD
rs1488360165
CA337900362
244 P>L No ClinGen
TOPMed
gnomAD
CA337900375
rs1445034413
244 P>S No ClinGen
TOPMed
CA337900348
rs1213164004
245 A>V No ClinGen
TOPMed
gnomAD
CA337900286
rs1161418073
247 A>T No ClinGen
TOPMed
CA16800989
rs890008305
247 A>V No ClinGen
TOPMed
gnomAD
rs1315974039
CA337900139
251 A>S No ClinGen
gnomAD
rs1220237262
CA337900115
252 Q>* No ClinGen
TOPMed
gnomAD
rs1277948827
CA337899886
258 M>V No ClinGen
TOPMed
CA16800943
rs927269372
261 R>G No ClinGen
TOPMed
CA337899802
rs1217564238
261 R>K No ClinGen
TOPMed
CA337899704
rs1478125717
266 D>N No ClinGen
TOPMed
gnomAD
CA337899679
rs1331559311
267 L>V No ClinGen
TOPMed
rs980406230
CA16800942
269 D>N No ClinGen
TOPMed
CA337899587
rs1263142000
273 S>N No ClinGen
TOPMed
gnomAD
rs776132018
CA530494
274 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA337899526
rs1185837145
279 S>A No ClinGen
TOPMed
rs1445709410
CA337899523
279 S>L No ClinGen
TOPMed
CA337899512
rs1216211749
281 E>G No ClinGen
TOPMed
CA337899516
rs1256296540
281 E>K No ClinGen
TOPMed
gnomAD
CA337899506
rs1351817323
282 S>A No ClinGen
TOPMed
CA337899499
rs1204682787
283 S>L No ClinGen
TOPMed
gnomAD
rs955735593
CA16800926
285 A>V No ClinGen
TOPMed
gnomAD
rs1349702156
CA337899449
288 G>R No ClinGen
TOPMed
rs1387516478
CA337899433
290 G>R No ClinGen
Ensembl
CA337899400
rs1570394254
293 E>* No ClinGen
Ensembl
rs1203445518
CA337899300
300 E>* No ClinGen
TOPMed
gnomAD
rs1340663875
CA337899288
301 E>K No ClinGen
gnomAD
rs1283488017
CA337899230
305 G>E No ClinGen
TOPMed
rs1216243441
CA337899237
305 G>R No ClinGen
TOPMed
rs1570394080
CA337899212
307 T>P No ClinGen
Ensembl
CA337899207
rs1365073858
308 S>G No ClinGen
TOPMed
CA337899205
rs1292086594
308 S>N No ClinGen
TOPMed
CA337899131
rs1570393993
314 E>A No ClinGen
Ensembl
CA337899072
rs1237475804
318 E>G No ClinGen
TOPMed
rs1480871142
CA337899076
318 E>K No ClinGen
TOPMed
rs1480871142
CA337899075
318 E>Q No ClinGen
TOPMed
CA337899046
rs1308779493
320 E>D No ClinGen
TOPMed
rs1225816713
CA337899038
321 E>K No ClinGen
TOPMed
CA337899005
rs1570393790
323 E>G No ClinGen
Ensembl
rs1335822527
CA337898972
325 T>I No ClinGen
TOPMed
gnomAD
rs1570393724
CA337898979
325 T>P No ClinGen
Ensembl
CA337898973
rs1335822527
325 T>S No ClinGen
TOPMed
gnomAD
CA337898967
rs1398501175
326 G>S No ClinGen
TOPMed
gnomAD
CA337898958
rs1199383037
326 G>V No ClinGen
TOPMed
CA337898933
rs1482021433
328 N>K No ClinGen
TOPMed
CA337898926
rs1262100342
329 S>F No ClinGen
TOPMed
CA337898892
rs1296427701
332 A>S No ClinGen
gnomAD
rs1352557603
CA337898883
333 S>A No ClinGen
TOPMed
CA337898870
rs1570393619
334 E>A No ClinGen
Ensembl
CA16800891
rs1007932284
335 Q>H No ClinGen
TOPMed
gnomAD
CA337898852
rs1314140565
336 S>A No ClinGen
TOPMed
rs1461444530
CA337898843
336 S>F No ClinGen
gnomAD
CA337898750
rs1487770188
339 E>V No ClinGen
TOPMed
CA337898732
rs1476273744
341 S>G No ClinGen
TOPMed
gnomAD
CA337898730
rs1346066075
341 S>N No ClinGen
TOPMed
gnomAD
CA337898717
rs1489750510
342 E>* No ClinGen
TOPMed
rs554157354
CA337898707
342 E>D No ClinGen
1000Genomes
gnomAD
rs1344270166
CA337898706
343 E>K No ClinGen
TOPMed
gnomAD
rs898705920
CA16800563
346 S>G No ClinGen
TOPMed
CA530470
rs768661904
346 S>T No ClinGen
ExAC
gnomAD
CA530469
rs749210532
348 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA530468
rs780192737
350 E>K No ClinGen
ExAC
gnomAD
CA337898619
rs1453543330
351 R>* No ClinGen
TOPMed
gnomAD
CA530467
rs757402171
351 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA530466
rs751757795
353 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA337898588
rs1391349555
354 E>K No ClinGen
TOPMed
CA337898576
rs1268192880
355 N>D No ClinGen
gnomAD
CA337898564
rs1570390581
356 H>P No ClinGen
Ensembl
CA16800513
rs1015789392
357 L>P No ClinGen
TOPMed
rs1448946553
CA337898539
358 L>W No ClinGen
gnomAD
TCGA novel 360 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754265806
CA530439
361 P>S No ClinGen
ExAC
gnomAD
CA337897808
rs1185237764
362 E>K No ClinGen
TOPMed
rs766803346
CA530438
363 S>* No ClinGen
ExAC
gnomAD
rs766803346
CA337897775
363 S>L No ClinGen
ExAC
gnomAD
rs756623988
CA530437
364 R>Q No ClinGen
ExAC
gnomAD
rs1233263675
CA337897772
364 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA530435
rs766962720
366 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1361149658
CA337897694
367 R>* No ClinGen
TOPMed
gnomAD
rs1361149658
CA337897703
367 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 367 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA530434
rs773866402
367 R>P No ClinGen
ExAC
gnomAD
rs773866402
CA530433
367 R>Q No ClinGen
ExAC
gnomAD
CA530431
rs762772162
368 D>G No ClinGen
ExAC
gnomAD
rs6658335
CA530428
370 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1353328925
CA337897584
370 G>V No ClinGen
gnomAD
rs1371649508
CA337897545
372 S>R No ClinGen
TOPMed
CA530427
rs776669960
373 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1425424023
CA337897516
374 E>A No ClinGen
gnomAD
rs1367657075
CA337897508
374 E>D No ClinGen
TOPMed
gnomAD
rs772021911
CA530426
378 E>K No ClinGen
ExAC
gnomAD
CA16799995
rs1035159348
382 G>A No ClinGen
TOPMed
gnomAD
rs538694157
CA530423
383 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA530421
rs572960277
384 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1317146130
CA337897324
385 Q>* No ClinGen
gnomAD
CA530418
rs781753792
385 Q>R No ClinGen
ExAC
gnomAD
rs770654419
CA16799964
386 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA530417
rs770654419
386 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA337897289
rs751121546
387 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA530416
rs751121546
387 S>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 388 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs553132525
CA530414
388 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1161020928
CA337897213
391 E>D No ClinGen
TOPMed
gnomAD
rs765094175
CA530411
391 E>G No ClinGen
ExAC
gnomAD
CA530410
rs759424277
392 G>S No ClinGen
ExAC
gnomAD
CA530408
rs200982240
393 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA530407
rs372466982
394 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774425238
CA530406
395 V>M No ClinGen
ExAC
TOPMed
rs749540364
CA530404
396 P>A No ClinGen
ExAC
gnomAD
CA337897110
rs746314221
397 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs770045003
CA337897118
397 D>N No ClinGen
ExAC
gnomAD
CA337897114
rs1390389600
397 D>V No ClinGen
TOPMed
rs770045003
CA530402
397 D>Y No ClinGen
ExAC
gnomAD
rs1570387143
CA337897107
398 S>P No ClinGen
Ensembl
CA530398
rs751066507
399 P>L No ClinGen
ExAC
gnomAD
rs757798116
CA530399
399 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs777457352
CA337897067
400 A>G No ClinGen
ExAC
gnomAD
rs777457352
CA530397
400 A>V No ClinGen
ExAC
gnomAD
rs1059828
CA337897039
402 L>* No ClinGen
ExAC
TOPMed
gnomAD
rs1059828
CA530394
VAR_031717
402 L>S No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA530395
rs1059828
402 L>W No ClinGen
ExAC
TOPMed
gnomAD
rs1362889009
CA337897014
403 P>L No ClinGen
TOPMed
gnomAD
rs1362889009
CA337897024
403 P>R No ClinGen
TOPMed
gnomAD
rs367901816
CA337896987
404 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753671198
CA530392
404 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA530389
rs374965804
405 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760680988
CA530390
405 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA337896983
rs760680988
405 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs200726395
CA530388
406 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337896949
rs1174707279
407 K>R No ClinGen
gnomAD
CA530387
rs763082026
408 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs775690147
CA530386
411 P>L No ClinGen
ExAC
gnomAD
rs367795282
CA16799769
412 K>M No ClinGen
ESP
TOPMed
CA337896860
rs1570386872
413 Y>S No ClinGen
Ensembl
CA530385
rs770062280
414 L>V No ClinGen
ExAC
TOPMed
gnomAD
COSM1472919
rs1051015506
CA16799753
415 P>L Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA337896811
rs1557784336
416 A>D No ClinGen
Ensembl
rs371163262
CA337896783
418 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337895945
rs1311744460
421 R>Q No ClinGen
gnomAD
rs1380254877
CA337895948
421 R>W No ClinGen
TOPMed
gnomAD
CA16798411
rs776759183
422 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA337895919
rs1375514100
423 V>I No ClinGen
TOPMed
gnomAD
CA337895907
rs1435004943
424 E>* No ClinGen
TOPMed
CA337895912
rs1435004943
424 E>K No ClinGen
TOPMed
rs1295939309
CA337895881
426 F>L No ClinGen
gnomAD
rs747435567
CA337895840
428 C>* No ClinGen
ExAC
CA337895843
rs1363857185
428 C>F No ClinGen
TOPMed
rs1165038165
CA337895785
433 E>* No ClinGen
TOPMed
gnomAD
rs1294542916
CA337895743
436 T>S No ClinGen
TOPMed
rs949285719
CA16798345
438 G>E No ClinGen
TOPMed
rs1430445962
CA337895704
440 V>I No ClinGen
TOPMed
rs1367017021
CA337895693
441 Y>H No ClinGen
gnomAD
rs1372586557
CA337895667
442 R>I No ClinGen
TOPMed
CA337895670
rs1372586557
442 R>K No ClinGen
TOPMed
CA337895652
rs1168533215
444 K>E No ClinGen
TOPMed
CA337895639
rs1420194134
445 D>E No ClinGen
gnomAD
CA337895644
rs773851666
445 D>H No ClinGen
ExAC
gnomAD
CA530362
rs773851666
445 D>Y No ClinGen
ExAC
gnomAD
RCV000480151
rs754605532
447 K>missing No ClinVar
dbSNP
TCGA novel 449 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337895615
rs1482740501
449 D>H No ClinGen
gnomAD
rs759584229
CA530348
451 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA16798133
rs55658751
451 I>V No ClinGen
Ensembl
CA337895568
rs1473847750
454 L>P No ClinGen
TOPMed
rs376481107
CA530345
456 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA16798121
rs766774315
456 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA530342
rs557274278
459 M>T No ClinGen
ExAC
gnomAD
rs1341793242
CA337895529
460 E>Q No ClinGen
TOPMed
gnomAD
CA337895461
rs1383590192
464 E>D No ClinGen
TOPMed
gnomAD
CA530339
rs774758666
464 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs768186787
CA530336
466 F>L No ClinGen
ExAC
gnomAD
rs748804386
CA530335
467 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA16798057
rs781272091
467 P>T No ClinGen
Ensembl
CA530333
rs372941585
469 T>M No ClinGen
ESP
ExAC
gnomAD
CA337895388
rs1377166491
470 S>F No ClinGen
gnomAD
rs528622251
CA530328
473 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA337895355
rs1415351323
473 E>G No ClinGen
gnomAD
rs547132690
CA530329
473 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs559525010
CA530326
474 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1264975096
CA337895308
475 N>K No ClinGen
gnomAD
CA337895302
rs1322166329
476 T>A No ClinGen
TOPMed
CA530323
rs750773628
477 I>M No ClinGen
ExAC
rs760998676
CA530324
477 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA337895250
rs1346163253
478 L>F No ClinGen
TOPMed
rs576602267
CA530322
479 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs762130257
CA530321
479 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1295849649
CA337895205
480 A>D No ClinGen
gnomAD
rs1419856197
CA337895183
481 Q>H No ClinGen
gnomAD
rs774905323
CA530320
481 Q>R No ClinGen
ExAC
gnomAD
rs769051886
CA530319
482 H>Y No ClinGen
ExAC
gnomAD
rs762470986
CA530318
484 N>H No ClinGen
ExAC
gnomAD
rs769400304
CA530316
485 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs769400304
CA337895097
485 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs542926483
CA530317
485 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA530313
rs770700733
486 V>A No ClinGen
ExAC
gnomAD
rs758281969
CA530310
488 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1259937678
CA337895024
489 R>K No ClinGen
TOPMed
CA530248
rs564492756
490 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs770903653
CA530249
490 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs201308032
CA530246
491 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1257806308
CA337894761
493 V>L No ClinGen
TOPMed
CA337894764
rs1257806308
493 V>M No ClinGen
TOPMed
rs1254322527
CA337894749
494 G>D No ClinGen
gnomAD
CA337894756
rs1484531999
494 G>S No ClinGen
gnomAD
CA337894742
rs1209594409
495 S>N No ClinGen
gnomAD
rs779278752
CA530243
497 M>I No ClinGen
ExAC
CA337894645
rs1454756396
497 M>V No ClinGen
TOPMed
CA530242
rs368047902
499 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337894520
rs1397699196
500 I>M No ClinGen
gnomAD
CA530240
rs780664705
500 I>N No ClinGen
ExAC
gnomAD
rs754276993
CA530241
500 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1376969807
CA337894493
501 Y>C No ClinGen
TOPMed
gnomAD
rs749952146
CA530238
503 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs749952146
CA530239
503 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA530237
rs767017556
504 M>V No ClinGen
ExAC
gnomAD
rs1059822
CA337894263
506 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA530235
rs751299422
506 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA337894233
rs1166003410
507 V>M No ClinGen
gnomAD
CA530233
rs762903481
508 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1254738520
CA337894203
508 E>G No ClinGen
gnomAD
CA337894211
rs1426072836
508 E>Q No ClinGen
gnomAD
CA337894192
rs1483397577
509 H>Y No ClinGen
gnomAD
rs1570373309
CA337894161
510 D>A No ClinGen
Ensembl
COSM898846
CA16797533
rs936549366
510 D>N endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA530231
rs200942510
512 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1265803136
CA337894061
513 S>N No ClinGen
gnomAD
rs368648532
CA530230
514 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337894015
rs1570373268
515 M>I No ClinGen
Ensembl
CA530229
rs773366177
516 E>K No ClinGen
ExAC
gnomAD
CA337893958
rs1311852410
517 T>I No ClinGen
gnomAD
rs748338152
CA530227
518 M>T No ClinGen
ExAC
gnomAD
CA337893951
rs1351726295
518 M>V No ClinGen
gnomAD
rs1408821383
CA337893857
520 Q>* No ClinGen
gnomAD
CA530225
rs768991667
521 P>L No ClinGen
ExAC
gnomAD
rs779154041
CA530226
521 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs779154041
CA337893842
521 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA337893738
rs1164647783
524 P>S No ClinGen
gnomAD
CA337893720
rs1473209358
525 G>R No ClinGen
gnomAD
rs1286422471
CA337893392
526 E>D No ClinGen
TOPMed
gnomAD
rs369296379
CA337893385
CA337893388
COSM1247910
527 V>L oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs369296379
CA530160
527 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337893350
rs1308732109
528 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 529 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750349983
CA530156
530 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1557779514
CA337893234
533 Q>* No ClinGen
Ensembl
CA337893216
rs758440722
533 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA337893207
rs1415728933
534 L>V No ClinGen
gnomAD
rs1474845730
CA337893170
535 L>P No ClinGen
gnomAD
rs374016782
CA337893154
536 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA530151
rs374016782
536 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1412046998
CA337893163
536 R>W No ClinGen
gnomAD
rs1250675952
CA337893129
537 G>V No ClinGen
gnomAD
rs759869925
CA530149
538 V>M No ClinGen
ExAC
gnomAD
TCGA novel 539 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754154891
CA530147
539 K>Q No ClinGen
ExAC
gnomAD
rs766826532
CA530146
539 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs773764705
CA530144
540 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs773764705
CA337893064
540 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA337893071
rs1334834195
540 H>Y No ClinGen
gnomAD
rs772461086
CA530143
541 L>P No ClinGen
ExAC
gnomAD
CA530141
CA530142
rs377008127
542 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779742571
CA530138
543 D>E No ClinGen
ExAC
gnomAD
rs372429949
CA530139
543 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337892999
rs1321409606
544 N>S No ClinGen
gnomAD
CA530136
rs769575432
549 R>C No ClinGen
ExAC
gnomAD
CA530135
rs369035896
549 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA337892843
rs1406651464
551 L>F No ClinGen
gnomAD
rs930296152
CA16797177
552 K>E No ClinGen
TOPMed
rs757164651
CA530133
553 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA530132
rs748219267
555 N>S No ClinGen
ExAC
gnomAD
CA530131
rs186584733
560 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA530129
rs375112331
561 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA337892624
rs367807408
562 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA530126
rs367807408
COSM1247912
562 G>D oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs574355501
CA530127
562 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA530125
rs768015274
563 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762255154
CA530124
564 L>F No ClinGen
ExAC
gnomAD
rs1455583853
CA337892560
565 K>N No ClinGen
gnomAD
CA337892568
rs1322417142
565 K>R No ClinGen
gnomAD
rs1306829870
CA337892338
567 G>C No ClinGen
gnomAD
rs751969001
CA530085
569 F>Y No ClinGen
ExAC
gnomAD
CA530083
rs758938952
570 G>E No ClinGen
ExAC
gnomAD
CA337892219
rs1457075047
570 G>W No ClinGen
gnomAD
CA530081
rs562414511
572 A>E No ClinGen
ExAC
gnomAD
rs753246844
CA530082
572 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs753246844
CA337892183
572 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA530080
rs562414511
572 A>V No ClinGen
ExAC
gnomAD
CA530077
rs372661453
573 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA530078
rs372661453
573 R>Q Variant assessed as Somatic; 4.737e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA337892164
rs756189308
573 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA530075
rs369978825
575 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 575 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774477354
CA337892082
576 G>* No ClinGen
ExAC
TOPMed
gnomAD
rs774477354
CA530073
576 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA530071
rs745966193
577 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1480166327
CA337892010
578 P>R No ClinGen
gnomAD
CA337892016
rs183405236
578 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA530070
rs183405236
578 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1557778806
CA337891920
581 A>D No ClinGen
Ensembl
rs1265820956
CA337891937
581 A>T No ClinGen
TOPMed
gnomAD
rs771208691
CA530068
582 Y>C No ClinGen
ExAC
rs1292096698
CA337891884
583 T>A No ClinGen
gnomAD
rs778084332
CA337891877
583 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA530065
rs778084332
583 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs754377026
CA530061
584 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 584 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779466075
CA530062
584 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs779466075
CA337891867
584 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1462887623
CA337891858
585 V>F No ClinGen
TOPMed
rs574343699
CA530058
586 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA530057
rs574343699
586 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA337891831
rs1164279573
587 V>M No ClinGen
gnomAD
CA337891800
rs1414326465
588 T>I No ClinGen
gnomAD
rs56410233
CA530054
589 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1239813871
CA337891762
590 W>L No ClinGen
TOPMed
TCGA novel 590 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA530052
rs201693816
592 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759486089
CA530051
592 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs558730635
CA337891689
593 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA530049
rs558730635
593 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA530046
rs773483575
594 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA337891606
rs1386983147
597 L>P No ClinGen
TOPMed
CA337891573
rs1258448976
599 G>A No ClinGen
TOPMed
gnomAD
rs772423667
CA530045
599 G>C No ClinGen
ExAC
gnomAD
rs1237862469
CA337891568
600 A>T No ClinGen
gnomAD
rs1331397300
CA337891557
600 A>V No ClinGen
gnomAD
CA337891515
rs1443636902
601 K>N No ClinGen
gnomAD
CA337891537
rs1418489938
601 K>R No ClinGen
TOPMed
CA529999
rs532125752
602 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA337891390
rs1369684445
602 E>Q No ClinGen
gnomAD
rs777360629
CA337929759
603 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA529997
rs200649303
605 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA529996
rs200649303
605 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1271340033
CA337929731
606 A>D No ClinGen
gnomAD
rs1439852483
CA337929736
606 A>T No ClinGen
gnomAD
CA529993
rs753808941
607 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370353171
CA529991
609 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA529992
rs767559638
609 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA337929636
rs1239043522
610 W>C No ClinGen
TOPMed
rs1289180773
CA337929628
611 S>* No ClinGen
gnomAD
rs1289180773
CA337929627
611 S>L No ClinGen
gnomAD
rs1197738461
CA337929621
612 V>A No ClinGen
TOPMed
rs1444649069
CA337929601
613 G>A No ClinGen
gnomAD
CA337929610
rs1315843305
613 G>S No ClinGen
TOPMed
CA337929586
rs1219804561
614 C>R No ClinGen
TOPMed
rs1328006914
CA337929577
614 C>S No ClinGen
TOPMed
gnomAD
rs374606369
CA529987
617 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs879157131
CA337929526
CA337929524
617 G>R No ClinGen
TOPMed
gnomAD
rs879157131
CA16818120
617 G>W No ClinGen
TOPMed
gnomAD
rs760098796
CA529985
618 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs760098796
CA529986
618 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1468331735
CA337929497
618 E>V No ClinGen
gnomAD
CA337929440
rs1181591267
621 T>I No ClinGen
TOPMed
gnomAD
rs777338977
CA529984
622 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA337929433
rs777338977
622 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA337929409
rs1415608300
623 K>E No ClinGen
TOPMed
CA529981
rs746509028
624 P>L No ClinGen
ExAC
gnomAD
rs561263753
CA529982
624 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA529979
COSM1247908
rs370914124
626 F>L oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1371540541
CA337929310
627 P>R No ClinGen
gnomAD
CA529977
rs377624799
628 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA529975
rs55675585
629 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs754813819
CA529976
629 N>S No ClinGen
ExAC
gnomAD
CA337929277
rs757293035
630 S>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs757293035
COSM256594
CA529973
630 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs757293035
CA529974
630 S>W No ClinGen
ExAC
gnomAD
rs575236489
CA529971
631 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1210692642
CA337929246
632 I>T No ClinGen
TOPMed
CA529968
rs765684442
633 D>A No ClinGen
ExAC
TOPMed
gnomAD
COSM3802667
CA529969
rs753016535
633 D>N breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1192245768
CA337929225
634 Q>* No ClinGen
gnomAD
CA529967
rs777216116
634 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA337929199
rs1218094984
636 N>H No ClinGen
TOPMed
gnomAD
CA16818028
rs201615210
636 N>S No ClinGen
1000Genomes
rs558644609
CA529964
637 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA337929172
rs1136982
637 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1301052941
CA337929133
640 K>* No ClinGen
gnomAD
rs771650414
CA529961
640 K>N No ClinGen
ExAC
gnomAD
CA337929128
rs1440075622
640 K>R No ClinGen
TOPMed
gnomAD
CA529944
rs1136980
641 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA529943
rs766919639
642 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1300311600
CA337929044
643 G>R No ClinGen
gnomAD
CA337929038
rs1460915158
643 G>V No ClinGen
gnomAD
rs1463019083
CA337929022
645 P>S No ClinGen
gnomAD
CA529938
rs1294323462
646 S>G No ClinGen
TOPMed
rs1457651804
CA337929006
646 S>I No ClinGen
TOPMed
rs1294323462
CA337929014
646 S>R No ClinGen
TOPMed
CA337929001
rs1187429690
647 E>Q No ClinGen
gnomAD
CA337928962
rs749032855
649 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA529937
rs749032855
649 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA337928955
rs1252363890
650 W>* No ClinGen
gnomAD
rs775236052
CA529936
650 W>C No ClinGen
ExAC
gnomAD
rs1273667219
CA337928937
651 P>L No ClinGen
gnomAD
CA16817757
rs865873922
651 P>S No ClinGen
gnomAD
rs1272048263
CA337928931
652 G>D No ClinGen
gnomAD
rs1331972710
CA337928935
652 G>S No ClinGen
TOPMed
gnomAD
CA529935
rs769681177
653 Y>C No ClinGen
ExAC
gnomAD
rs867481320
CA337928905
654 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1373060240
CA337928888
657 P>L No ClinGen
TOPMed
gnomAD
CA529933
rs781257946
657 P>S No ClinGen
ExAC
gnomAD
VAR_060153
rs866149312
CA529932
658 V>A No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs874516
CA529931
660 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA337928866
rs1164349716
661 K>E No ClinGen
gnomAD
rs1234281338
CA337928862
661 K>M No ClinGen
TOPMed
rs1257908811
CA337928847
662 M>I No ClinGen
TOPMed
rs755286013
CA529929
662 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs755286013
CA337928850
662 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1157208015
CA337928831
663 T>I No ClinGen
gnomAD
CA529928
rs754150661
665 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs373894114
CA16817679
665 S>R No ClinGen
Ensembl
CA529926
rs756555532
666 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1251832293
CA337928778
667 H>P No ClinGen
TOPMed
gnomAD
rs1251832293
CA337928776
667 H>R No ClinGen
TOPMed
gnomAD
CA337928764
rs1352236001
668 P>S No ClinGen
gnomAD
rs1338410191
CA337928752
669 Y>C No ClinGen
gnomAD
rs761254847
CA529923
669 Y>H No ClinGen
ExAC
gnomAD
CA337928735
rs1353376633
670 N>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs986085109
CA16817636
670 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA337928731
rs1304687982
671 N>H No ClinGen
gnomAD
CA337928725
rs1570366405
671 N>T No ClinGen
Ensembl
rs751089541
CA529922
672 L>F No ClinGen
ExAC
gnomAD
CA529921
rs763695200
673 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA529920
rs762574327
673 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1287286533
CA337928672
674 K>N No ClinGen
gnomAD
CA529919
rs775271664
674 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs769472924
CA529918
675 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA529917
rs372303398
675 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA529913
rs779101783
677 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs779101783
CA337928631
677 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs748202034
CA529915
CA529914
677 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA337928624
rs1448182606
678 A>T No ClinGen
gnomAD
CA337928617
rs1259081923
678 A>V No ClinGen
gnomAD
rs1570366265
CA337928609
679 L>M No ClinGen
Ensembl
rs768901474
CA529912
680 L>F No ClinGen
ExAC
gnomAD
CA337928595
rs768901474
680 L>V No ClinGen
ExAC
gnomAD
CA337928577
rs1411337152
682 D>H No ClinGen
TOPMed
gnomAD
rs1213535366
CA337928552
683 Q>R No ClinGen
gnomAD
CA529911
rs749505383
684 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA529908
rs756365885
CA529909
685 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs368698821
CA529907
686 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA529905
rs757792406
689 N>I No ClinGen
ExAC
gnomAD
rs1315025021
CA337928350
689 N>K No ClinGen
gnomAD
CA337928339
rs1432560438
690 K>Q No ClinGen
gnomAD
rs1185321616
CA337928182
693 T>I No ClinGen
gnomAD
rs1183064589
CA337928108
697 G>R No ClinGen
gnomAD
CA337927994
rs1198604989
701 S>C No ClinGen
TOPMed
gnomAD
rs1477531670
CA337927970
702 A>S No ClinGen
TOPMed
rs1477531670
CA337927981
702 A>T No ClinGen
TOPMed
rs1231651131
CA337927900
705 G>D No ClinGen
gnomAD
rs1275179941
CA337927905
705 G>S No ClinGen
TOPMed
gnomAD
CA337927764
rs1333769060
712 R>C No ClinGen
TOPMed
gnomAD
CA337927757
rs1330541281
712 R>H No ClinGen
TOPMed
gnomAD
CA337927727
rs1330262695
714 T>I No ClinGen
gnomAD
rs1570365222
CA337927734
714 T>P No ClinGen
Ensembl
CA337927717
rs1217999716
715 P>R No ClinGen
TOPMed
CA337927695
rs1570365186
716 L>P No ClinGen
Ensembl
rs1276159636
CA337927682
717 P>S No ClinGen
TOPMed
rs1233370539
CA337927654
718 I>V No ClinGen
TOPMed
rs1570365137
CA337927611
719 D>A No ClinGen
Ensembl
rs1162256804
CA337927633
719 D>N No ClinGen
TOPMed
gnomAD
rs1570365128
CA337927520
722 M>I No ClinGen
Ensembl
rs1570365118
CA337927500
723 F>S No ClinGen
Ensembl
rs1404384493
CA337927457
725 T>M No ClinGen
TOPMed
gnomAD
rs1408192472
CA337927420
726 W>* No ClinGen
gnomAD
CA337927413
rs1159946395
727 P>S No ClinGen
TOPMed
gnomAD
CA337927336
rs1231551410
730 S>R No ClinGen
TOPMed
gnomAD
CA337927309
rs1178544150
732 Q>* No ClinGen
TOPMed
gnomAD
CA337927289
rs1478413913
733 Q>R No ClinGen
TOPMed
CA529895
rs773336663
734 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA337927263
rs1570365028
734 R>H No ClinGen
Ensembl
rs1254957874
CA337927219
737 R>W No ClinGen
TOPMed
gnomAD
CA337927147
rs1458916138
741 P>L No ClinGen
TOPMed
CA337927124
rs1451120055
743 P>S No ClinGen
TOPMed
gnomAD
CA337926960
rs1308317408
751 S>N No ClinGen
TOPMed
gnomAD
rs1241959122
CA337926939
752 Q>R No ClinGen
TOPMed
CA337926854
rs1570364569
754 G>D No ClinGen
Ensembl
CA337926803
rs1421625089
756 D>N No ClinGen
TOPMed
CA337926764
rs1242794425
757 D>N No ClinGen
gnomAD
rs1398723010
CA337926624
761 T>R No ClinGen
TOPMed
CA337926532
rs1255352142
766 T>P No ClinGen
TOPMed
CA337926480
rs1285032024
768 T>M No ClinGen
TOPMed
gnomAD
CA337926453
rs1211267363
769 N>K No ClinGen
gnomAD
CA337926428
rs1261946594
771 G>R No ClinGen
TOPMed
CA337926390
rs1570364435
774 A>T No ClinGen
Ensembl
rs1292518113
CA337926362
775 A>T No ClinGen
TOPMed
rs1229273013
CA337926352
775 A>V No ClinGen
TOPMed
rs1288502058
CA337926306
778 G>D No ClinGen
TOPMed
CA337926314
rs1341267306
778 G>S No ClinGen
TOPMed
CA337926278
rs1165161394
780 S>N No ClinGen
TOPMed

No associated diseases with Q9UQ88

3 regional properties for Q9UQ88

Type Name Position InterPro Accession
domain Protein kinase domain 426 - 711 IPR000719
active_site Serine/threonine-protein kinase, active site 546 - 558 IPR008271
domain Cyclin-dependent kinase 11/PITSLRE, catalytic domain 420 - 711 IPR045267

Functions

Description
EC Number 2.7.11.22 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cyclin-dependent protein kinase holoenzyme complex Cyclin-dependent protein kinases (CDKs) are enzyme complexes that contain a kinase catalytic subunit associated with a regulatory cyclin partner.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cyclin-dependent protein serine/threonine kinase activity Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

11 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
mitotic cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cell growth Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of centrosome cycle Any process that modulates the frequency, rate or extent of the centrosome cycle, the processes of centrosome duplication and separation.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of mitotic cell cycle Any process that modulates the rate or extent of progress through the mitotic cell cycle.
regulation of mRNA processing Any process that modulates the frequency, rate or extent of mRNA processing, those processes involved in the conversion of a primary mRNA transcript into a mature mRNA prior to its translation into polypeptide.
regulation of RNA splicing Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.

15 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q15131 CDK10 Cyclin-dependent kinase 10 Homo sapiens (Human) PR
Q00526 CDK3 Cyclin-dependent kinase 3 Homo sapiens (Human) PR
Q96Q40 CDK15 Cyclin-dependent kinase 15 Homo sapiens (Human) PR
O94921 CDK14 Cyclin-dependent kinase 14 Homo sapiens (Human) PR
Q00537 CDK17 Cyclin-dependent kinase 17 Homo sapiens (Human) PR
P49336 CDK8 Cyclin-dependent kinase 8 Homo sapiens (Human) PR
Q9BWU1 CDK19 Cyclin-dependent kinase 19 Homo sapiens (Human) PR
P50750 CDK9 Cyclin-dependent kinase 9 Homo sapiens (Human) PR
Q5MAI5 CDKL4 Cyclin-dependent kinase-like 4 Homo sapiens (Human) PR
Q00532 CDKL1 Cyclin-dependent kinase-like 1 Homo sapiens (Human) PR
Q92772 CDKL2 Cyclin-dependent kinase-like 2 Homo sapiens (Human) PR
Q8IZL9 CDK20 Cyclin-dependent kinase 20 Homo sapiens (Human) PR
P21127 CDK11B Cyclin-dependent kinase 11B Homo sapiens (Human) PR
Q09437 cdk-11.1 Cyclin-dependent kinase 11.1 Caenorhabditis elegans PR
Q9FGW5 CDKG1 Cyclin-dependent kinase G1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MGDEKDSWKV KTLDEILQEK KRRKEQEEKA EIKRLKNSDD RDSKRDSLEE GELRDHCMEI
70 80 90 100 110 120
TIRNSPYRRE DSMEDRGEED DSLAIKPPQQ MSRKEKVHHR KDEKRKEKWK HARVKEREHE
130 140 150 160 170 180
RRKRHREEQD KARREWERQK RREMAREHSR RERDRLEQLE RKRERERKMR EQQKEQREQK
190 200 210 220 230 240
ERERRAEERR KEREARREVS AHHRTMREDY SDKVKASHWS RSPPRPPRER FELGDGRKPG
250 260 270 280 290 300
EARPAPAQKP AQLKEEKMEE RDLLSDLQDI SDSERKTSSA ESSSAESGSG SEEEEEEEEE
310 320 330 340 350 360
EEEEGSTSEE SEEEEEEEEE EEEETGSNSE EASEQSAEEV SEEEMSEDEE RENENHLLVV
370 380 390 400 410 420
PESRFDRDSG ESEEAEEEVG EGTPQSSALT EGDYVPDSPA LLPIELKQEL PKYLPALQGC
430 440 450 460 470 480
RSVEEFQCLN RIEEGTYGVV YRAKDKKTDE IVALKRLKME KEKEGFPITS LREINTILKA
490 500 510 520 530 540
QHPNIVTVRE IVVGSNMDKI YIVMNYVEHD LKSLMETMKQ PFLPGEVKTL MIQLLRGVKH
550 560 570 580 590 600
LHDNWILHRD LKTSNLLLSH AGILKVGDFG LAREYGSPLK AYTPVVVTQW YRAPELLLGA
610 620 630 640 650 660
KEYSTAVDMW SVGCIFGELL TQKPLFPGNS EIDQINKVFK ELGTPSEKIW PGYSELPVVK
670 680 690 700 710 720
KMTFSEHPYN NLRKRFGALL SDQGFDLMNK FLTYFPGRRI SAEDGLKHEY FRETPLPIDP
730 740 750 760 770 780
SMFPTWPAKS EQQRVKRGTS PRPPEGGLGY SQLGDDDLKE TGFHLTTTNQ GASAAGPGFS
LKF