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

794-814 (Activation loop from InterPro)

Target domain

652-906 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for Q6XUX3

Entry ID Method Resolution Chain Position Source
AF-Q6XUX3-F1 Predicted AlphaFoldDB

729 variants for Q6XUX3

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10575599
RCV000054498
rs879255515
8 W>* Congenital anomalies of kidney and urinary tract 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA1353145
RCV000416593
RCV002057056
rs202068245
18 P>L Congenital anomalies of kidney and urinary tract 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001170058
VAR_071324
RCV000054500
RCV000902729
CA144624
rs200780796
29 R>Q Congenital anomalies of kidney and urinary tract 1 CAKUT1; unknown pathological significance [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000416576
CA1353058
rs373780579
120 D>N Congenital anomalies of kidney and urinary tract 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
VAR_071325 200 D>G CAKUT1 [UniProt] Yes UniProt
rs748982270
RCV001328902
RCV000996116
CA36441693
203 H>Q Hereditary spastic paraplegia 23 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
CA1352918
rs573628666
RCV001029927
354 R>C Variant assessed as Somatic; 0.0 impact. Congenital anomalies of kidney and urinary tract 1 [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
NCI-TCGA
dbSNP
gnomAD
rs555607162
RCV000416590
CA16044138
418 D>G Congenital anomalies of kidney and urinary tract 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs77626160
RCV003147620
RCV001333861
CA344397914
462 R>* Hereditary spastic paraplegia 23 Congenital anomalies of kidney and urinary tract 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000416602
CA1352764
rs148815814
RCV002515572
592 R>Q Congenital anomalies of kidney and urinary tract 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001696198
RCV000244891
rs3851294
CA1352716
RCV001660329
RCV001660328
641 C>R Hereditary spastic paraplegia 23 Congenital anomalies of kidney and urinary tract 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000416598
rs773130126
CA1352590
790 R>C Congenital anomalies of kidney and urinary tract 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000782188
VAR_071326
rs778586547
CA1352561
843 S>L CAKUT1 [UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
RCV001028006
rs1574742379
CA344387019
869 A>S Congenital anomalies of kidney and urinary tract 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA344404000
rs1241841144
2 E>D No ClinGen
gnomAD
CA36435379
rs906132247
2 E>K No ClinGen
Ensembl
rs1209960432
CA344403995
3 G>C No ClinGen
gnomAD
CA36435374
rs1045846586
4 D>A No ClinGen
Ensembl
CA344403986
rs1041953439
4 D>N No ClinGen
TOPMed
gnomAD
CA36435376
rs1041953439
4 D>Y No ClinGen
TOPMed
gnomAD
rs1226609749
CA344403966
5 G>E No ClinGen
TOPMed
gnomAD
rs569941031
CA1353167
5 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344403956
rs1230702643
6 V>A No ClinGen
TOPMed
gnomAD
CA344403954
rs1230702643
6 V>E No ClinGen
TOPMed
gnomAD
CA1353165
rs776063644
6 V>L No ClinGen
ExAC
gnomAD
CA1353164
rs550252532
7 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA1353163
rs550252532
7 P>T No ClinGen
1000Genomes
ExAC
gnomAD
rs761207358
CA1353160
8 W>G No ClinGen
ExAC
TOPMed
gnomAD
CA344403935
rs774599096
8 W>L No ClinGen
ExAC
TOPMed
gnomAD
rs761207358
CA1353161
8 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs774599096
CA1353159
8 W>S No ClinGen
ExAC
TOPMed
gnomAD
rs768808653
CA1353158
9 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs1427529910
CA344403925
9 G>D No ClinGen
gnomAD
rs768808653
CA344403927
9 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs768808653
CA344403929
9 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA1353157
rs749371298
10 S>N No ClinGen
ExAC
gnomAD
rs1229304292
CA344403907
10 S>R No ClinGen
TOPMed
CA1353156
rs780062821
11 E>G No ClinGen
ExAC
gnomAD
rs1574811975
CA344403889
12 P>A No ClinGen
Ensembl
CA1353155
rs757115952
12 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs912040182
CA36435306
13 V>L No ClinGen
TOPMed
gnomAD
rs777508863
CA1353153
14 S>A No ClinGen
ExAC
gnomAD
rs753322115
CA1353148
15 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA1353149
rs200741404
15 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753322115
CA344403871
15 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA1353150
rs200741404
15 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA36435297
rs200741404
15 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344403870
rs753322115
15 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs761213465
CA1353147
16 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1439066715
CA344403868
16 P>L No ClinGen
TOPMed
rs761213465
CA1353146
16 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA344403862
rs1285842164
17 G>D No ClinGen
gnomAD
rs1379838726
CA344403864
17 G>R No ClinGen
gnomAD
CA344403865
rs1379838726
17 G>S No ClinGen
gnomAD
CA344403852
rs774633972
19 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA1353142
rs774633972
19 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA1353143
rs762245291
19 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs774633972
CA344403851
19 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA344403848
rs1405401537
20 G>C No ClinGen
TOPMed
gnomAD
CA344403846
rs1416594238
20 G>D No ClinGen
TOPMed
gnomAD
CA344403850
rs1405401537
20 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1416594238
CA344403847
20 G>V No ClinGen
TOPMed
gnomAD
rs1472540962
CA344403842
21 G>C No ClinGen
gnomAD
rs1472540962
CA344403843
21 G>S No ClinGen
gnomAD
rs1184748693
CA344403825
23 M>I No ClinGen
gnomAD
rs775578460
CA1353137
25 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1025385058
CA36435252
25 R>H No ClinGen
TOPMed
rs1025385058
CA344403813
25 R>L No ClinGen
TOPMed
CA344403806
rs1291955320
26 E>D No ClinGen
gnomAD
rs1222446347
CA344403812
26 E>Q No ClinGen
TOPMed
gnomAD
rs1323512302
CA344403807
26 E>V No ClinGen
gnomAD
rs1023884958
CA344403791
29 R>G No ClinGen
TOPMed
gnomAD
rs1288803891
CA344403785
30 G>C No ClinGen
TOPMed
gnomAD
rs1288803891
CA344403787
30 G>S No ClinGen
TOPMed
gnomAD
CA1353134
rs199644054
32 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA344403768
rs778579455
33 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1353131
rs754601110
33 R>L No ClinGen
ExAC
gnomAD
rs778579455
CA1353132
33 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA1353130
rs753456261
34 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1457217354
CA344403763
34 Y>H No ClinGen
gnomAD
CA344403757
rs1431767340
35 R>C No ClinGen
gnomAD
CA1353129
rs559636939
36 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs559636939
CA344403751
36 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs906100594
CA36435171
37 Y>S No ClinGen
TOPMed
rs768123228
CA344403731
39 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA1353126
rs768123228
39 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1268641294
CA344403729
40 R>G No ClinGen
gnomAD
rs1014360985
CA36435162
40 R>Q No ClinGen
Ensembl
CA1353123
rs751879517
42 R>Q No ClinGen
ExAC
gnomAD
CA36435136
rs775457934
44 N>D No ClinGen
TOPMed
gnomAD
CA344403708
rs775457934
44 N>H No ClinGen
TOPMed
gnomAD
CA36435135
rs890738468
44 N>T No ClinGen
TOPMed
gnomAD
rs775661653
CA1353120
45 L>R No ClinGen
ExAC
gnomAD
rs763182357
CA1353121
45 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1558632637
RCV000722917
46 R>missing No ClinVar
dbSNP
rs1435180858
CA344403697
46 R>C No ClinGen
gnomAD
rs1188039354
CA344403690
47 E>A No ClinGen
TOPMed
gnomAD
CA1353117
rs776759045
47 E>D No ClinGen
ExAC
gnomAD
rs1188039354
CA344403689
47 E>G No ClinGen
TOPMed
gnomAD
TCGA novel 47 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344403681
rs1248581130
48 T>I No ClinGen
gnomAD
CA36435091
rs936052276
50 K>T No ClinGen
TOPMed
gnomAD
rs1295317405
CA344403647
53 R>C No ClinGen
TOPMed
gnomAD
rs1295317405
CA344403648
53 R>G No ClinGen
TOPMed
gnomAD
CA1353116
rs771931255
54 D>H No ClinGen
ExAC
gnomAD
CA1353112
rs749146065
55 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA1353114
rs778722938
55 I>S No ClinGen
ExAC
gnomAD
CA344403631
rs1365215458
56 K>Q No ClinGen
gnomAD
CA36435053
rs1039031767
56 K>R No ClinGen
Ensembl
rs779830881
CA1353111
57 C>W No ClinGen
ExAC
gnomAD
CA344403609
rs1394870957
59 H>Y No ClinGen
gnomAD
CA344403593
rs1403061592
61 H>Y No ClinGen
TOPMed
TCGA novel 62 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1353110
rs755887691
62 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA344403587
rs1404050991
62 T>P No ClinGen
TOPMed
TCGA novel 62 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1353108
rs143001609
63 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344403582
rs143001609
63 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1353107
rs78212113
64 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA36435035
rs986749457
66 S>F No ClinGen
Ensembl
CA36435030
rs543550172
67 L>I No ClinGen
1000Genomes
TOPMed
gnomAD
rs543550172
CA36435015
67 L>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs753122153
CA1353103
68 T>A No ClinGen
ExAC
gnomAD
CA344403553
rs765444355
68 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA1353102
rs765444355
68 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA344403549
rs1303176640
69 G>D No ClinGen
TOPMed
gnomAD
CA1353099
rs770940471
69 G>S No ClinGen
ExAC
gnomAD
CA1353097
rs774123961
70 G>S No ClinGen
ExAC
gnomAD
rs113488459
CA344403540
71 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs113488459
CA1353096
71 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs916529551
CA36434950
72 G>E No ClinGen
TOPMed
gnomAD
rs749023249
CA1353095
73 A>T No ClinGen
ExAC
gnomAD
rs1241924760
CA344403527
73 A>V No ClinGen
gnomAD
rs769500233
CA1353094
74 E>* No ClinGen
ExAC
gnomAD
CA1353093
rs769500233
74 E>K No ClinGen
ExAC
gnomAD
CA36434926
rs962746435
75 R>C No ClinGen
Ensembl
rs1398168450
CA344403515
76 G>S No ClinGen
gnomAD
rs780798212
CA1353091
78 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA344403488
rs1430685197
80 D>Y No ClinGen
gnomAD
TCGA novel 81 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1372616933
CA344403469
83 E>Q No ClinGen
gnomAD
rs1161562310
CA344403461
84 T>A No ClinGen
gnomAD
rs76872152
CA36434906
85 G>E No ClinGen
TOPMed
rs1457440250
CA344403455
85 G>W No ClinGen
gnomAD
rs146982479
CA1353088
RCV001310895
86 L>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1476139760
CA344403433
89 G>S No ClinGen
gnomAD
CA344405582
rs1331867958
92 S>C No ClinGen
gnomAD
CA1353067
rs779211149
92 S>N No ClinGen
ExAC
gnomAD
CA1353066
rs755305796
98 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1399361942
CA344405386
102 K>R No ClinGen
TOPMed
CA344405342
rs1319738420
104 L>F No ClinGen
TOPMed
gnomAD
rs1457691606
CA344405306
105 Q>L No ClinGen
gnomAD
CA1353064
rs766495411
107 I>T No ClinGen
ExAC
gnomAD
TCGA novel 107 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs922443042
CA36441898
109 D>E No ClinGen
Ensembl
CA344405219
rs1477517551
109 D>V No ClinGen
gnomAD
CA1353062
rs750402479
110 C>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA344405156
rs1447063850
112 P>R No ClinGen
gnomAD
TCGA novel 114 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 114 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA36441878
rs976476529
118 G>S No ClinGen
Ensembl
CA1353059
rs377110889
119 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1353057
rs759395108
120 D>E No ClinGen
ExAC
gnomAD
CA1353056
rs369567583
121 C>F No ClinGen
ESP
ExAC
TOPMed
TCGA novel 123 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs147839849
CA344404960
123 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147839849
CA1353055
123 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1353053
rs772548291
126 Q>H No ClinGen
ExAC
gnomAD
rs1431438724
CA344404861
129 N>S No ClinGen
gnomAD
rs1450344609
CA344404811
132 L>F No ClinGen
TOPMed
CA1353048
rs749611069
134 V>A No ClinGen
ExAC
CA344404797
rs377144521
134 V>L No ClinGen
ESP
TOPMed
CA36441802
rs377144521
134 V>M No ClinGen
ESP
TOPMed
CA1353046
rs756229043
135 Q>* No ClinGen
ExAC
gnomAD
CA344404769
rs1406185848
136 V>L No ClinGen
gnomAD
rs757377763
CA1353043
139 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA1353041
rs150925718
143 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 144 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1353040
rs759554676
COSM1500783
144 S>N lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1393677319
CA344404655
145 E>K No ClinGen
gnomAD
rs1443295905
CA344404609
148 C>S No ClinGen
gnomAD
rs1423155978
CA344404582
151 R>Q No ClinGen
TOPMed
rs183180194
CA1353039
151 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs202242580
CA1353038
152 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374400399
CA1353037
COSM1338165
152 R>H large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
rs150727939
CA1353035
153 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367737631
CA1353034
154 R>C No ClinGen
ESP
ExAC
gnomAD
rs141159612
CA1353032
RCV000881174
154 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs141159612
CA1353033
154 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs546458057
CA1353031
157 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA344404535
rs1282285757
157 Y>H No ClinGen
gnomAD
CA344404513
rs1355916475
159 T>S No ClinGen
gnomAD
CA344404497
rs1574786374
160 Q>H No ClinGen
Ensembl
CA344404486
rs1428009008
161 T>S No ClinGen
TOPMed
CA344404477
rs144353653
162 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144353653
CA1353028
162 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770221747
CA1353029
162 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1170560711
CA344404453
165 L>P No ClinGen
gnomAD
rs143877075
CA1353027
166 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344404429
rs1249876537
168 P>S No ClinGen
TOPMed
gnomAD
rs751625087
CA344404409
170 Q>P No ClinGen
ExAC
gnomAD
CA1353025
rs751625087
170 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 170 Q>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1353023
rs754915090
171 Y>C No ClinGen
ExAC
gnomAD
rs1291205969
CA344404402
171 Y>H No ClinGen
TOPMed
rs1035843168
CA36441710
175 H>D No ClinGen
Ensembl
CA1353022
rs753846160
176 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs760498805
CA344404331
178 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs903310578
CA36441706
178 V>G No ClinGen
Ensembl
rs760498805
CA1353020
178 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA344404305
rs1206717966
180 H>Q No ClinGen
gnomAD
CA344404310
rs1195579009
180 H>Y No ClinGen
TOPMed
CA1353019
rs750241134
181 Q>K No ClinGen
ExAC
gnomAD
TCGA novel 182 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1353018
rs767151120
182 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA344404266
rs1472335432
185 E>D No ClinGen
TOPMed
CA1353017
rs199944046
188 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1415831125
CA344404250
188 P>H No ClinGen
TOPMed
rs199548630
CA1353016
190 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 193 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1360778637
CA344404207
193 E>K No ClinGen
TOPMed
rs1407714708
CA344404116
198 N>S No ClinGen
TOPMed
gnomAD
CA1353014
rs763325257
203 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs763613192
CA1353015
203 H>Y No ClinGen
ExAC
gnomAD
rs1447733267
CA344404037
206 A>V No ClinGen
TOPMed
rs1359033175
CA344404014
208 L>P No ClinGen
TOPMed
rs770250006
CA1353012
209 E>D No ClinGen
ExAC
rs563828272
CA1353011
211 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1353010
rs771058036
212 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA36441684
rs1017736459
214 H>Q No ClinGen
TOPMed
gnomAD
CA344403941
rs1420583036
214 H>R No ClinGen
gnomAD
rs1050080497
CA36441682
215 A>T No ClinGen
Ensembl
CA1353009
rs771223776
215 A>V No ClinGen
ExAC
gnomAD
rs747261792
CA1353008
216 L>V No ClinGen
ExAC
gnomAD
CA1353007
rs777960255
218 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA1352977
rs182725278
221 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200086272
CA1352979
221 D>N No ClinGen
1000Genomes
ExAC
TOPMed
CA1352975
rs760053061
222 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1352976
rs760053061
222 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA36432757
rs1009732389
223 V>A No ClinGen
TOPMed
gnomAD
CA1352974
rs754365487
224 V>A No ClinGen
ExAC
gnomAD
CA1352972
rs761109084
229 G>D No ClinGen
ExAC
gnomAD
rs1349565747
CA344402340
231 R>Q No ClinGen
TOPMed
gnomAD
rs1211244077
CA344402342
231 R>W No ClinGen
TOPMed
gnomAD
rs1317025378
CA344402324
234 V>L No ClinGen
TOPMed
rs1574767100
CA344402308
236 V>G No ClinGen
Ensembl
rs769344388
CA36432744
236 V>I No ClinGen
TOPMed
gnomAD
CA1352970
rs772267864
238 G>D No ClinGen
ExAC
gnomAD
TCGA novel 241 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1574767063
CA344402278
241 V>G No ClinGen
Ensembl
rs774439952
CA1352969
241 V>L No ClinGen
ExAC
gnomAD
CA1352968
rs774439952
241 V>M No ClinGen
ExAC
gnomAD
CA1352966
rs374624788
242 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1203920214
CA344402241
247 V>M No ClinGen
gnomAD
CA1352963
rs146503031
248 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs549446265
CA1352961
249 T>I No ClinGen
1000Genomes
ExAC
rs752327873
CA1352960
250 Y>H No ClinGen
ExAC
gnomAD
rs778672032
CA1352959
251 A>G No ClinGen
ExAC
gnomAD
TCGA novel 254 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1183804343
CA344402181
256 E>K No ClinGen
TOPMed
CA344402172
rs1256596723
257 L>V No ClinGen
gnomAD
rs1486463268
CA344402161
259 E>K No ClinGen
gnomAD
CA1352957
rs753457437
260 R>S No ClinGen
ExAC
gnomAD
CA344402147
rs1558609608
261 D>N No ClinGen
Ensembl
TCGA novel 262 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1574766932
CA344402127
263 Q>R No ClinGen
Ensembl
TCGA novel 267 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM902738
CA1352956
rs766990251
269 R>* endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs761266476
CA1352955
269 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1294312741
CA344402059
271 Y>C No ClinGen
gnomAD
rs200487573
CA1352953
273 S>F No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 274 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1352952
rs762054497
275 P>A No ClinGen
ExAC
gnomAD
rs567432027
CA1352951
277 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA344401976
rs1401773239
279 F>I No ClinGen
TOPMed
CA344401974
rs1574766868
279 F>S No ClinGen
Ensembl
TCGA novel 279 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1352950
rs768967753
280 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1403998472
CA344401959
281 V>A No ClinGen
TOPMed
rs775610801
CA1352948
282 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs370244638
COSM3385667
CA1352946
286 S>L pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs370244638
CA344401929
286 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344401914
rs1558609530
288 I>M No ClinGen
Ensembl
CA344401892
rs1225386308
292 S>T No ClinGen
TOPMed
rs201109942
CA1352944
294 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 296 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344401867
rs1409329881
296 M>L No ClinGen
gnomAD
rs1180720118
CA344401855
297 E>A No ClinGen
gnomAD
rs1438044369
CA344401852
297 E>D No ClinGen
TOPMed
gnomAD
rs778420247
CA1352942
299 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754747511
CA1352941
300 R>G No ClinGen
ExAC
gnomAD
rs373701022
CA1352939
302 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344401808
rs1380493812
304 Y>C No ClinGen
gnomAD
CA1352938
rs779720873
305 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM902736
rs756636882
CA1352937
305 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1352936
rs750921983
306 Q>E No ClinGen
ExAC
gnomAD
CA1352935
rs768105138
307 L>P No ClinGen
ExAC
gnomAD
CA1352934
rs757540020
308 I>V No ClinGen
ExAC
gnomAD
rs370760844
CA36432615
311 G>A No ClinGen
ESP
TOPMed
TCGA novel 311 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA36432618
rs756512921
311 G>R No ClinGen
Ensembl
CA344401754
rs1326434998
312 Y>S No ClinGen
gnomAD
TCGA novel 314 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1352931
rs148821812
314 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1470319851
CA344401633
318 W>C No ClinGen
gnomAD
rs775500481
CA1352930
318 W>R No ClinGen
ExAC
gnomAD
CA344401585
rs1365138002
319 N>K No ClinGen
TOPMed
gnomAD
rs1455466744
CA344401576
321 G>R No ClinGen
gnomAD
TCGA novel 322 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1352929
rs765333744
324 G>D No ClinGen
ExAC
gnomAD
CA1352927
rs773001432
326 D>N No ClinGen
ExAC
gnomAD
CA1352926
rs145485055
328 K>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA36432546
rs878855827
331 S>N No ClinGen
Ensembl
CA344401402
rs1558609304
332 M>I No ClinGen
Ensembl
rs142787461
CA1352924
333 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1352923
rs199871698
335 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA1352922
rs748968553
335 E>V No ClinGen
ExAC
gnomAD
rs542688934
CA36432512
336 Q>H No ClinGen
1000Genomes
gnomAD
CA1352921
RCV000996115
rs377628453
336 Q>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA344401333
rs1344353997
337 S>N No ClinGen
TOPMed
CA344401324
rs1443069982
338 E>K No ClinGen
gnomAD
CA344401186
rs1324562721
344 S>N No ClinGen
gnomAD
CA1352920
rs755650136
345 T>A No ClinGen
ExAC
gnomAD
rs1386696675
CA344401127
347 S>F No ClinGen
gnomAD
rs745431742
CA1352919
348 H>Q No ClinGen
ExAC
gnomAD
CA344401121
rs1170507449
348 H>R No ClinGen
TOPMed
gnomAD
CA344401104
rs1395198849
349 Q>H No ClinGen
gnomAD
rs1284619464
CA344401080
352 Q>E No ClinGen
TOPMed
rs1574766474
CA344401068
353 T>P No ClinGen
Ensembl
rs573628666
CA344401053
354 R>G No ClinGen
1000Genomes
ExAC
gnomAD
rs560755065
CA1352917
354 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344401037
rs1194870249
356 V>A No ClinGen
TOPMed
CA344401040
rs1194353109
356 V>M No ClinGen
gnomAD
rs751802361
CA1352916
360 K>E No ClinGen
ExAC
gnomAD
CA344400985
rs764466450
360 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA344400972
rs1438695120
361 A>T No ClinGen
TOPMed
CA1352913
rs374059613
364 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA344400912
rs1226219707
365 V>L No ClinGen
TOPMed
gnomAD
rs369636944
CA1352912
368 H>R No ClinGen
ESP
ExAC
gnomAD
CA344400852
rs1574766314
368 H>Y No ClinGen
Ensembl
rs1431367181
CA344400817
369 C>F No ClinGen
gnomAD
rs1558609008
CA344400623
376 Q>H No ClinGen
Ensembl
CA1352911
rs759525072
377 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs767293836
CA1352909
380 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA344400549
rs1413839970
380 M>L No ClinGen
gnomAD
CA344400547
rs1413839970
380 M>V No ClinGen
gnomAD
CA36432460
rs201516007
381 Q>L No ClinGen
Ensembl
rs146013414
CA1352907
382 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs993731260
CA36432444
386 I>V No ClinGen
Ensembl
COSM3400228
rs769627475
CA1352903
390 R>C Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs745365385
CA1352902
390 R>H No ClinGen
ExAC
CA344400312
rs1207400802
392 E>K No ClinGen
TOPMed
gnomAD
TCGA novel 393 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780756514
CA1352901
395 R>G No ClinGen
ExAC
gnomAD
rs1486137995
CA344400263
395 R>Q No ClinGen
TOPMed
gnomAD
rs771282186
CA1352900
396 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs747583589
CA1352899
396 K>R No ClinGen
ExAC
gnomAD
TCGA novel 398 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1352896
rs753118108
406 M>T No ClinGen
ExAC
gnomAD
CA36432411
rs113866410
407 N>S No ClinGen
Ensembl
rs1325029055
CA344400057
408 I>V No ClinGen
TOPMed
CA1352895
rs200422779
410 N>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200422779
CA344400021
410 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1352893
rs753805870
411 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs761613180
CA1352891
415 E>K No ClinGen
ExAC
gnomAD
CA344399967
rs751507782
416 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA1352890
rs751507782
416 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA1352889
rs764172291
417 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs555607162
CA1352888
418 D>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1420452874
CA344399920
423 T>A No ClinGen
gnomAD
CA1352886
rs201623661
425 N>H No ClinGen
1000Genomes
ExAC
gnomAD
rs373549849
CA1352885
425 N>S No ClinGen
ESP
ExAC
gnomAD
CA36432383
rs143291000
426 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs1192786268
CA344399892
427 M>I No ClinGen
TOPMed
CA344399896
rs1206651907
427 M>L No ClinGen
gnomAD
CA1352884
rs775965428
427 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1206651907
CA344399897
427 M>V No ClinGen
gnomAD
rs770444659
CA1352883
429 E>Q No ClinGen
ExAC
gnomAD
rs1242864938
CA344399866
431 L>I No ClinGen
TOPMed
CA1352882
rs35845538
VAR_057101
432 L>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1335302063
CA344399854
433 D>Y No ClinGen
gnomAD
CA36432373
rs896450048
434 D>G No ClinGen
TOPMed
rs1284474254
CA344399839
435 A>S No ClinGen
Ensembl
rs1384374915
CA344399835
436 T>P No ClinGen
TOPMed
rs1382148045
CA344399814
438 M>I No ClinGen
TOPMed
CA344399820
rs1164868921
438 M>V No ClinGen
TOPMed
CA344399798
rs1574765891
440 F>L No ClinGen
Ensembl
CA344399799
rs1574765901
440 F>Y No ClinGen
Ensembl
rs372309264
CA1352863
CA36430472
442 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772513231
CA1352862
443 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs962511873
CA36430464
444 I>V No ClinGen
Ensembl
CA344398136
rs1161630107
445 V>A No ClinGen
gnomAD
CA344398122
rs1218697094
446 P>H No ClinGen
TOPMed
rs1314157744
CA344398108
447 E>V No ClinGen
TOPMed
CA1352860
rs774542193
448 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA1352859
rs547036245
451 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344398065
rs547036245
451 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344398026
rs1458173300
454 T>N No ClinGen
TOPMed
CA344398008
rs1269330349
456 E>K No ClinGen
gnomAD
CA36430453
rs368372837
457 I>L No ClinGen
ESP
TOPMed
CA1352858
rs749659998
458 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1191258180
CA344397954
459 C>S No ClinGen
TOPMed
CA1352856
rs756357681
460 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs756357681
CA344397943
460 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1574760269
CA344397930
461 I>V No ClinGen
Ensembl
rs77626160
CA1352855
462 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758359517
CA1352853
COSM160606
462 R>Q breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs752652454
CA1352852
463 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA1352851
rs765138099
466 E>Q No ClinGen
ExAC
gnomAD
rs1293987261
CA344397810
469 I>V No ClinGen
gnomAD
rs754789156
CA1352850
470 S>A No ClinGen
ExAC
gnomAD
rs753642939
CA1352849
471 R>* No ClinGen
ExAC
gnomAD
CA1352848
rs774752814
471 R>Q No ClinGen
ExAC
gnomAD
rs760338678
CA1352847
473 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA344397742
rs1375026344
475 A>T No ClinGen
gnomAD
rs1490416133
CA344397737
476 V>M No ClinGen
TOPMed
gnomAD
CA344397729
rs1174373891
477 A>S No ClinGen
TOPMed
gnomAD
rs1435930346
CA344397725
478 N>D No ClinGen
TOPMed
CA344397713
rs768981307
CA1352846
478 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA1352845
rs569664059
479 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA344397661
rs1277360285
481 I>T No ClinGen
TOPMed
CA344397650
rs1193715526
482 S>G No ClinGen
gnomAD
rs761350525
CA1352844
483 S>P No ClinGen
ExAC
gnomAD
CA1352841
rs749656431
489 E>G No ClinGen
ExAC
gnomAD
CA36430385
rs775721917
491 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1338551101
CA344397403
492 V>F No ClinGen
gnomAD
rs1338551101
CA344397408
492 V>I No ClinGen
gnomAD
rs746112821
CA1352838
493 G>R No ClinGen
ExAC
gnomAD
rs757391925
CA344397338
497 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs1298222441
CA344397328
498 C>R No ClinGen
gnomAD
CA344397321
rs1231802409
498 C>S No ClinGen
gnomAD
rs1313778082
CA344397200
501 S>R No ClinGen
gnomAD
CA36430337
rs945337205
506 Q>R No ClinGen
TOPMed
gnomAD
CA344397117
rs1221671346
507 D>N No ClinGen
TOPMed
rs753615046
CA1352832
511 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1461439797
CA344397026
512 I>F No ClinGen
TOPMed
gnomAD
CA1352831
rs766114505
512 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA344396975
rs1173265081
515 N>D No ClinGen
TOPMed
TCGA novel 515 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 519 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1419096051
CA344396903
520 I>M No ClinGen
gnomAD
rs938263099
CA36429947
522 N>H No ClinGen
TOPMed
CA36429945
rs924344608
522 N>S No ClinGen
TOPMed
rs980098732
CA36429941
523 A>D No ClinGen
TOPMed
rs1468708162
CA344396884
524 A>T No ClinGen
gnomAD
CA344396866
rs1468409388
526 H>R No ClinGen
gnomAD
rs1274218234
CA344396856
528 E>K No ClinGen
gnomAD
rs968214720
CA36429935
530 T>M No ClinGen
TOPMed
gnomAD
CA1352815
rs768593687
534 G>V No ClinGen
ExAC
gnomAD
rs749217494
CA1352814
535 S>L No ClinGen
ExAC
gnomAD
rs749217494
CA344396806
535 S>W No ClinGen
ExAC
gnomAD
CA344396788
rs1438688041
538 T>R No ClinGen
gnomAD
CA344396791
rs1301300372
538 T>S No ClinGen
TOPMed
gnomAD
CA344396778
rs1326373319
540 M>L No ClinGen
gnomAD
rs780814100
CA1352810
543 E>K No ClinGen
ExAC
gnomAD
rs1382347371
CA344396749
544 Q>E No ClinGen
gnomAD
CA344396743
rs756860232
544 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA1352808
rs374006516
545 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1453965633
CA344396741
545 I>V No ClinGen
gnomAD
CA1352806
rs763475713
546 K>T No ClinGen
ExAC
gnomAD
TCGA novel 548 I>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs562238251
CA1352788
551 R>C Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765772515
CA1352787
551 R>H Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1280827353
CA344396083
554 W>C No ClinGen
gnomAD
rs1574758047
CA344396052
556 S>T No ClinGen
Ensembl
rs1337306925
CA344396010
558 P>T No ClinGen
gnomAD
CA36429686
rs1035543596
559 A>V No ClinGen
TOPMed
CA1352781
rs767835099
560 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1342003682
CA344395962
561 T>S No ClinGen
gnomAD
rs1413785229
CA344395950
562 L>R No ClinGen
gnomAD
CA344395952
rs1260712966
562 L>V No ClinGen
TOPMed
CA1352780
rs761791404
563 E>V No ClinGen
ExAC
gnomAD
rs267598326
CA36429660
564 W>* No ClinGen
Ensembl
CA36429664
rs1042893909
564 W>R No ClinGen
Ensembl
CA344395884
rs1335596582
566 R>T No ClinGen
gnomAD
CA344395872
rs1477353702
567 K>R No ClinGen
TOPMed
CA344395858
rs1574757974
568 V>G No ClinGen
Ensembl
CA1352779
rs774414868
568 V>M No ClinGen
ExAC
gnomAD
CA344395838
rs1168860531
570 Q>R No ClinGen
gnomAD
CA1352776
rs776370465
571 E>K No ClinGen
ExAC
gnomAD
rs1171117102
CA344395777
577 S>R No ClinGen
TOPMed
CA344395766
rs147190858
577 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA344395771
rs1374715401
577 S>T No ClinGen
TOPMed
rs368970750
CA1352774
578 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1239304396
CA344395722
580 K>R No ClinGen
gnomAD
CA344395707
rs1426115329
581 L>S No ClinGen
TOPMed
rs1450993604
CA344395696
582 A>T No ClinGen
gnomAD
rs374748923
CA36429623
584 S>I No ClinGen
TOPMed
rs374748923
CA344395663
584 S>N No ClinGen
TOPMed
CA1352771
rs747605096
585 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA1352769
CA344395611
rs755505835
587 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA1352770
rs374851853
587 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1352768
rs200985639
590 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1242711305
CA344395569
590 R>W No ClinGen
TOPMed
rs766961895
CA1352767
591 T>S No ClinGen
ExAC
gnomAD
rs148048922
CA1352765
592 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1352762
rs774364049
593 L>V No ClinGen
ExAC
gnomAD
CA344395521
rs1469321397
594 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1164595430
CA344395492
596 S>C No ClinGen
gnomAD
rs763059294
CA1352760
598 E>K No ClinGen
ExAC
gnomAD
CA344395474
rs1558604299
599 A>S No ClinGen
Ensembl
CA36429594
rs867889224
601 A>V No ClinGen
Ensembl
CA344395451
rs1469742479
602 A>V No ClinGen
gnomAD
rs746717562
CA1352757
605 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1352758
rs770969662
605 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1056550462
CA36429289
607 L>P No ClinGen
Ensembl
TCGA novel 609 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774425962
CA1352731
612 S>A No ClinGen
ExAC
gnomAD
COSM1338161
rs1361367833
CA344395329
613 G>D Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1432881954
CA344395322
614 R>Q No ClinGen
TOPMed
gnomAD
rs1300122167
CA344395324
614 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA344395302
rs1394546989
616 E>Q No ClinGen
gnomAD
rs1175361060
CA344395288
617 K>E No ClinGen
gnomAD
rs1433674288
CA344395274
618 T>A No ClinGen
gnomAD
rs374722933
CA1352730
618 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344395248
rs1184514143
620 D>G No ClinGen
gnomAD
CA1352728
rs146470052
621 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344395237
rs1218322474
622 W>R No ClinGen
gnomAD
CA344395209
rs1278951872
624 R>T No ClinGen
gnomAD
CA1352726
rs758632426
624 R>W No ClinGen
ExAC
gnomAD
CA344395195
rs1574756774
625 V>G No ClinGen
Ensembl
rs765391969
CA1352724
626 R>Q No ClinGen
ExAC
gnomAD
CA1352725
rs752673167
626 R>W No ClinGen
ExAC
gnomAD
CA1352722
rs553241241
628 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA1352721
COSM381767
rs767625627
632 R>C lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs535442055
CA1352720
632 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
rs535442055
CA36429256
632 R>L No ClinGen
1000Genomes
ExAC
TOPMed
CA344395098
rs1413164579
635 R>C No ClinGen
TOPMed
gnomAD
CA1352718
rs774289190
635 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA344395065
rs1466513242
637 S>C No ClinGen
gnomAD
CA344395015
rs3851294
641 C>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1352715
rs769315184
641 C>S No ClinGen
ExAC
gnomAD
CA344395019
rs3851294
641 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1352714
rs769315184
641 C>Y No ClinGen
ExAC
gnomAD
CA36429247
rs867832957
CA344394971
644 Q>H No ClinGen
TOPMed
gnomAD
rs1195447938
CA344394910
648 L>I No ClinGen
gnomAD
rs1474008259
CA344394901
649 H>N No ClinGen
gnomAD
COSM902733
rs142986970
CA1352712
650 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1352695
rs776132078
650 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA344393990
rs1240442551
652 P>R No ClinGen
gnomAD
rs147872876
CA36425248
653 K>N No ClinGen
ESP
TOPMed
gnomAD
CA1352693
rs202155350
655 G>A No ClinGen
ExAC
gnomAD
CA36425247
rs202155350
655 G>E No ClinGen
ExAC
gnomAD
rs773749326
CA1352692
656 Q>H No ClinGen
ExAC
gnomAD
rs1460909694
CA344393899
657 E>Q No ClinGen
TOPMed
rs779196153
CA1352690
658 L>M No ClinGen
ExAC
gnomAD
rs779196153
CA1352689
658 L>V No ClinGen
ExAC
gnomAD
CA344393848
rs1377499293
659 G>S No ClinGen
gnomAD
CA36425229
rs1035239987
660 R>Q No ClinGen
gnomAD
rs1438367933
CA344393793
661 G>D No ClinGen
gnomAD
rs1176355663
CA344393693
665 V>A No ClinGen
TOPMed
CA36425208
rs763603130
665 V>M No ClinGen
TOPMed
rs757218647
CA1352685
667 Y>C No ClinGen
ExAC
gnomAD
rs1157465443
CA344393617
669 C>S No ClinGen
gnomAD
CA1352683
rs764174507
COSM1500784
671 N>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1412652553
CA344393537
672 W>* No ClinGen
TOPMed
CA344393518
rs1558603173
673 G>V No ClinGen
Ensembl
TCGA novel 674 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344393491
rs1192287690
676 F>L No ClinGen
gnomAD
CA344393488
rs1174145386
676 F>Y No ClinGen
TOPMed
rs893903495
CA36425189
686 P>Q No ClinGen
Ensembl
CA36425192
rs1011466766
686 P>S No ClinGen
Ensembl
CA344393360
rs1211919331
687 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs996851438
CA344393348
689 K>E No ClinGen
gnomAD
CA36425179
rs996851438
689 K>Q No ClinGen
gnomAD
rs776078988
CA1352678
690 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA1352679
rs759134097
690 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1311431922
CA344393326
692 N>H No ClinGen
gnomAD
TCGA novel 700 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760228646
CA1352676
700 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA1352654
rs201385262
705 P>L No ClinGen
ExAC
gnomAD
CA36425038
rs386638725
708 E>G No ClinGen
Ensembl
TCGA novel 708 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774733889
CA1352652
709 R>Q No ClinGen
ExAC
gnomAD
CA1352651
rs768868078
710 L>S No ClinGen
ExAC
gnomAD
CA1352650
rs763457185
711 V>L No ClinGen
ExAC
gnomAD
rs775839288
CA1352649
712 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA344393061
rs775839288
712 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1202081281
CA344393064
712 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs775839288
CA344393060
712 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1553361152
CA1352647
714 H>R No ClinGen
Ensembl
CA36425012
rs1021595268
715 G>V No ClinGen
Ensembl
CA1352644
rs781144442
718 I>T No ClinGen
ExAC
gnomAD
CA1352643
rs772006139
719 D>N No ClinGen
ExAC
gnomAD
CA344393010
rs1574754904
720 Y>C No ClinGen
Ensembl
CA1352642
rs56147706
721 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs56147706
CA344393003
721 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA344392996
rs1445207913
722 Y>C No ClinGen
gnomAD
rs759864299
CA36424982
722 Y>H No ClinGen
gnomAD
CA36424977
rs1028487563
723 G>D No ClinGen
Ensembl
CA1352641
rs778960139
726 S>F No ClinGen
ExAC
gnomAD
CA1352640
rs754756694
728 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs901245072
CA36424972
728 I>V No ClinGen
gnomAD
rs1473192729
CA344392882
731 L>V No ClinGen
gnomAD
rs1364509918
CA344392858
732 L>F No ClinGen
gnomAD
CA344392839
rs373307614
733 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344392830
rs1321252578
733 I>T No ClinGen
TOPMed
CA1352639
rs373307614
733 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1185911384
CA344392788
735 E>K No ClinGen
gnomAD
CA344392777
rs1478080527
735 E>V No ClinGen
gnomAD
CA1352637
rs755781145
736 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150778354
CA1352638
736 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344392745
rs1266328227
737 L>R No ClinGen
gnomAD
CA344392735
rs1312260692
738 H>Y No ClinGen
TOPMed
rs114762711
CA1352636
739 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1352634
rs369367865
739 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs114762711
RCV000884972
CA1352635
739 R>W No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs764717592
CA1352632
740 D>G No ClinGen
ExAC
gnomAD
TCGA novel 740 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764717592
CA1352633
740 D>V No ClinGen
ExAC
gnomAD
rs763403873
CA1352631
741 L>V No ClinGen
ExAC
gnomAD
CA344392666
rs1376723300
744 G>R No ClinGen
gnomAD
CA344392650
rs1328329928
746 K>T No ClinGen
TOPMed
rs1351795306
CA344392449
747 A>V No ClinGen
gnomAD
CA344392447
rs1296448824
748 G>R No ClinGen
gnomAD
CA344392391
rs1419228760
751 L>M No ClinGen
TOPMed
gnomAD
rs764628186
CA1352615
752 E>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 752 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1159249924
CA344392358
753 T>A No ClinGen
gnomAD
rs377161801
CA1352614
754 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770322382
CA36424122
754 R>H No ClinGen
TOPMed
rs770322382
CA344392325
754 R>L No ClinGen
TOPMed
rs377161801
CA344392346
754 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1466081008
CA344392212
760 D>N No ClinGen
gnomAD
CA36424101
rs991969050
762 V>A No ClinGen
TOPMed
gnomAD
CA344392158
rs1425760692
762 V>L No ClinGen
gnomAD
CA344392108
rs1478167886
764 G>V No ClinGen
gnomAD
CA1352611
rs760029067
766 R>C No ClinGen
ExAC
gnomAD
CA1352610
rs776706190
766 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1352609
rs142354055
767 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 768 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372939615
CA1352608
771 Q>R No ClinGen
ESP
ExAC
gnomAD
TCGA novel 772 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1480172950
CA344391943
774 V>A No ClinGen
gnomAD
rs1219457775
CA344391950
774 V>I No ClinGen
gnomAD
rs1310892104
CA344391936
775 H>Y No ClinGen
gnomAD
rs1301056685
CA344391916
776 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1370154947
CA344391868
778 I>M No ClinGen
gnomAD
rs755295780
CA1352594
785 L>P No ClinGen
ExAC
gnomAD
CA1352592
rs143505952
786 D>E No ClinGen
ESP
ExAC
TOPMed
rs760983218
CA1352591
787 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1318788375
CA344389861
789 N>S No ClinGen
gnomAD
CA1352589
COSM902729
rs767549596
790 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1352588
rs761926928
791 A>G No ClinGen
ExAC
gnomAD
TCGA novel 797 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344389543
rs1302228692
806 S>L No ClinGen
gnomAD
rs1352073253
CA344389484
809 I>T No ClinGen
TOPMed
rs753459273
CA36421155
812 T>R No ClinGen
Ensembl
CA344389421
rs1255370566
814 I>T No ClinGen
TOPMed
CA344389405
rs1408049886
815 H>R No ClinGen
gnomAD
rs868788895
CA36421152
815 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA344389378
rs1345543736
816 M>I No ClinGen
TOPMed
CA36421148
rs937338803
817 A>G No ClinGen
TOPMed
rs1168194164
CA344389367
817 A>T No ClinGen
gnomAD
rs1464809227
CA344389319
819 E>D No ClinGen
gnomAD
CA1352586
rs769787380
821 F>S No ClinGen
ExAC
gnomAD
rs1482560374
CA344389253
823 G>R No ClinGen
TOPMed
TCGA novel 826 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1488242858
CA344388832
829 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1352566
rs770728602
831 V>L No ClinGen
ExAC
gnomAD
rs760444729
CA1352565
835 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs1351574446
CA344388679
836 I>V No ClinGen
gnomAD
rs1307044878
CA344388658
837 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1352564
rs772993040
838 F>L No ClinGen
ExAC
gnomAD
rs771853402
CA1352563
838 F>Y No ClinGen
ExAC
gnomAD
CA344388559
rs1308806650
840 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 841 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1352562
rs747601342
841 I>V No ClinGen
ExAC
gnomAD
CA344388215
rs1415232470
854 R>G No ClinGen
TOPMed
rs371120241
CA36420083
855 C>W No ClinGen
ESP
TOPMed
CA36420079
rs372521477
856 A>P No ClinGen
ESP
gnomAD
rs369831159
CA36420078
857 S>R No ClinGen
ESP
TOPMed
rs1280018637
CA344388053
859 D>E No ClinGen
TOPMed
CA1352558
rs749767038
860 H>Y No ClinGen
ExAC
gnomAD
rs1440830714
CA344388017
861 L>I No ClinGen
gnomAD
CA36420069
rs910640618
864 N>D No ClinGen
TOPMed
CA344387925
rs1231350255
865 V>G No ClinGen
TOPMed
CA1352556
rs756492023
866 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs780479792
CA1352557
866 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1352555
rs750857653
868 G>W No ClinGen
ExAC
gnomAD
CA1352532
rs145326928
870 R>C No ClinGen
ESP
ExAC
gnomAD
CA1352531
rs752722650
870 R>H No ClinGen
ExAC
gnomAD
CA36419637
rs752722650
870 R>P No ClinGen
ExAC
gnomAD
rs766279464
CA1352530
873 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs368296430
CA1352529
873 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1344116407
CA344386843
878 D>E No ClinGen
gnomAD
CA344386861
rs1360129007
878 D>N No ClinGen
TOPMed
rs1263508189
CA344386833
879 E>K No ClinGen
gnomAD
rs1574742297
CA344386790
881 C>G No ClinGen
Ensembl
rs1315606984
CA344386781
881 C>Y No ClinGen
gnomAD
CA344386721
rs1574742288
883 Q>H No ClinGen
Ensembl
CA344386650
rs1430891769
887 A>T No ClinGen
gnomAD
rs1327649787
CA344386634
887 A>V No ClinGen
gnomAD
CA344386598
rs1395944229
889 W>* No ClinGen
gnomAD
rs1030585972
CA344386573
892 D>E No ClinGen
TOPMed
gnomAD
CA1352525
rs774043987
892 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1423121390
CA344386564
893 P>L No ClinGen
gnomAD
CA344386536
rs1171623752
896 R>K No ClinGen
gnomAD
CA344386531
rs1234713183
896 R>S No ClinGen
gnomAD
rs757807088
CA1352523
897 P>S No ClinGen
ExAC
gnomAD
rs757807088
CA1352524
897 P>T No ClinGen
ExAC
gnomAD
CA344386474
rs1369116923
902 V>A No ClinGen
TOPMed
rs1050984076
CA36419603
902 V>I No ClinGen
TOPMed
gnomAD
rs777163955
CA1352520
903 Q>H No ClinGen
ExAC
gnomAD
rs771263242
CA1352518
905 M>I No ClinGen
ExAC
gnomAD
CA344386447
rs1456262397
905 M>L No ClinGen
TOPMed
gnomAD
rs1257082245
CA344386443
905 M>T No ClinGen
gnomAD
rs562344996
CA1352517
906 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1352516
rs144574659
909 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs113459027
CA36419552
910 M>T No ClinGen
Ensembl
rs778888245
CA1352513
912 R>Q No ClinGen
ExAC
gnomAD
CA1352514
rs748208689
912 R>W No ClinGen
ExAC
gnomAD
rs151054719
CA1352512
916 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1399986835
CA344386326
917 N>D No ClinGen
gnomAD
CA344386320
rs1329872732
917 N>I No ClinGen
gnomAD
CA344386310
rs1378866427
918 S>C No ClinGen
gnomAD
rs939944869
CA36419532
919 E>Q No ClinGen
TOPMed
rs1411730987
CA344386271
921 P>R No ClinGen
gnomAD
rs370809794
CA1352509
923 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs56379815
CA1352507
924 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1185317089
CA344386234
925 L>V No ClinGen
gnomAD
CA344386222
rs1402750151
926 D>G No ClinGen
gnomAD
rs148542303
CA344386227
926 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1352506
rs148542303
RCV001859106
RCV001171330
926 D>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1237330551
CA344386214
927 D>N No ClinGen
gnomAD
rs141793968
CA1352505
927 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344386212
rs1237330551
927 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs146033090
CA1352504
928 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764696869
CA1352503
929 T>S No ClinGen
ExAC
gnomAD

No associated diseases with Q6XUX3

4 regional properties for Q6XUX3

Type Name Position InterPro Accession
domain Protein kinase domain 33 - 293 IPR000719
active_site Serine/threonine-protein kinase, active site 154 - 166 IPR008271
binding_site Protein kinase, ATP binding site 39 - 62 IPR017441
domain Serine/threonine-protein kinase 17B, catalytic domain 24 - 293 IPR042763

Functions

Description
EC Number 2.7.12.1 Dual-specificity kinases (those acting on Ser/Thr and Tyr residues)
Subcellular Localization
  • Cytoplasm
  • Cell membrane
  • Apical cell membrane
  • Basolateral cell membrane
  • Cell junction
  • Detected at apical cell-cell junctions
  • Colocalized with FGF receptors to the cell membrane (By similarity)
  • Detected in basolateral and apical membranes of all tubular epithelia
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
basolateral plasma membrane The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
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.
protein serine/threonine/tyrosine kinase activity Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

5 GO annotations of biological process

Name Definition
cellular response to fibroblast growth factor stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an fibroblast growth factor stimulus.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
positive regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of fibroblast growth factor receptor signaling pathway Any process that activates or increases the frequency, rate or extent of fibroblast growth factor receptor signaling pathway activity.
positive regulation of kinase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.

37 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A2VDU3 MAP3K7 Mitogen-activated protein kinase kinase kinase 7 Bos taurus (Bovine) SS
Q3SZJ2 RIPK2 Receptor-interacting serine/threonine-protein kinase 2 Bos taurus (Bovine) PR
Q4TVR5 DSTYK Dual serine/threonine and tyrosine protein kinase Bos taurus (Bovine) PR
Q6XUX0 DSTYK Dual serine/threonine and tyrosine protein kinase Gallus gallus (Chicken) PR
P83104 Takl1 Putative mitogen-activated protein kinase kinase kinase 7-like Drosophila melanogaster (Fruit fly) PR
Q95UN8 slpr Mitogen-activated protein kinase kinase kinase Drosophila melanogaster (Fruit fly) EV
O43353 RIPK2 Receptor-interacting serine/threonine-protein kinase 2 Homo sapiens (Human) PR
Q02779 MAP3K10 Mitogen-activated protein kinase kinase kinase 10 Homo sapiens (Human) SS
Q8NB16 MLKL Mixed lineage kinase domain-like protein Homo sapiens (Human) EV
Q16584 MAP3K11 Mitogen-activated protein kinase kinase kinase 11 Homo sapiens (Human) EV
P00540 MOS Proto-oncogene serine/threonine-protein kinase mos Homo sapiens (Human) PR
Q5TCX8 MAP3K21 Mitogen-activated protein kinase kinase kinase 21 Homo sapiens (Human) PR
O43318 MAP3K7 Mitogen-activated protein kinase kinase kinase 7 Homo sapiens (Human) SS
Q9NYL2 MAP3K20 Mitogen-activated protein kinase kinase kinase 20 Homo sapiens (Human) PR
Q38SD2 LRRK1 Leucine-rich repeat serine/threonine-protein kinase 1 Homo sapiens (Human) EV
P80192 MAP3K9 Mitogen-activated protein kinase kinase kinase 9 Homo sapiens (Human) SS
Q80XI6 Map3k11 Mitogen-activated protein kinase kinase kinase 11 Mus musculus (Mouse) PR
Q8VDG6 Map3k21 Mitogen-activated protein kinase kinase kinase 21 Mus musculus (Mouse) PR
P58801 Ripk2 Receptor-interacting serine/threonine-protein kinase 2 Mus musculus (Mouse) PR
Q62073 Map3k7 Mitogen-activated protein kinase kinase kinase 7 Mus musculus (Mouse) EV
Q3U1V8 Map3k9 Mitogen-activated protein kinase kinase kinase 9 Mus musculus (Mouse) SS
Q9D2Y4 Mlkl Mixed lineage kinase domain-like protein Mus musculus (Mouse) SS
Q9ESL4 Map3k20 Mitogen-activated protein kinase kinase kinase 20 Mus musculus (Mouse) PR
P00536 Mos Proto-oncogene serine/threonine-protein kinase mos Mus musculus (Mouse) PR
Q66L42 Map3k10 Mitogen-activated protein kinase kinase kinase 10 Mus musculus (Mouse) SS
P0C8E4 Map3k7 Mitogen-activated protein kinase kinase kinase 7 Rattus norvegicus (Rat) SS
Q66HA1 Map3k11 Mitogen-activated protein kinase kinase kinase 11 Rattus norvegicus (Rat) PR
D3ZG83 Map3k10 Mitogen-activated protein kinase kinase kinase 10 Rattus norvegicus (Rat) SS
P00539 Mos Proto-oncogene serine/threonine-protein kinase mos Rattus norvegicus (Rat) PR
Q9TZM3 lrk-1 Leucine-rich repeat serine/threonine-protein kinase 1 Caenorhabditis elegans SS
Q9FPR3 EDR1 Serine/threonine-protein kinase EDR1 Arabidopsis thaliana (Mouse-ear cress) PR
Q2MHE4 HT1 Serine/threonine/tyrosine-protein kinase HT1 Arabidopsis thaliana (Mouse-ear cress) PR
O22558 STY8 Serine/threonine-protein kinase STY8 Arabidopsis thaliana (Mouse-ear cress) PR
Q8RWL6 STY17 Serine/threonine-protein kinase STY17 Arabidopsis thaliana (Mouse-ear cress) PR
F4JTP5 STY46 Serine/threonine-protein kinase STY46 Arabidopsis thaliana (Mouse-ear cress) PR
Q05609 CTR1 Serine/threonine-protein kinase CTR1 Arabidopsis thaliana (Mouse-ear cress) PR
Q67E00 dstyk Dual serine/threonine and tyrosine protein kinase Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MEGDGVPWGS EPVSGPGPGG GGMIRELCRG FGRYRRYLGR LRQNLRETQK FFRDIKCSHN
70 80 90 100 110 120
HTCLSSLTGG GGAERGPAGD VAETGLQAGQ LSCISFPPKE EKYLQQIVDC LPCILILGQD
130 140 150 160 170 180
CNVKCQLLNL LLGVQVLPTT KLGSEESCKL RRLRFTYGTQ TRVSLALPGQ YELVHTLVAH
190 200 210 220 230 240
QGNWETIPEE DLEVQENNED AAHVLAELEV TMHHALLQEV DVVVAPCQGL RPTVDVLGDL
250 260 270 280 290 300
VNDFLPVITY ALHKDELSER DEQELQEIRK YFSFPVFFFK VPKLGSEIID SSTRRMESER
310 320 330 340 350 360
SPLYRQLIDL GYLSSSHWNC GAPGQDTKAQ SMLVEQSEKL RHLSTFSHQV LQTRLVDAAK
370 380 390 400 410 420
ALNLVHCHCL DIFINQAFDM QRDLQITPKR LEYTRKKENE LYESLMNIAN RKQEEMKDMI
430 440 450 460 470 480
VETLNTMKEE LLDDATNMEF KDVIVPENGE PVGTREIKCC IRQIQELIIS RLNQAVANKL
490 500 510 520 530 540
ISSVDYLRES FVGTLERCLQ SLEKSQDVSV HITSNYLKQI LNAAYHVEVT FHSGSSVTRM
550 560 570 580 590 600
LWEQIKQIIQ RITWVSPPAI TLEWKRKVAQ EAIESLSASK LAKSICSQFR TRLNSSHEAF
610 620 630 640 650 660
AASLRQLEAG HSGRLEKTED LWLRVRKDHA PRLARLSLES CSLQDVLLHR KPKLGQELGR
670 680 690 700 710 720
GQYGVVYLCD NWGGHFPCAL KSVVPPDEKH WNDLALEFHY MRSLPKHERL VDLHGSVIDY
730 740 750 760 770 780
NYGGGSSIAV LLIMERLHRD LYTGLKAGLT LETRLQIALD VVEGIRFLHS QGLVHRDIKL
790 800 810 820 830 840
KNVLLDKQNR AKITDLGFCK PEAMMSGSIV GTPIHMAPEL FTGKYDNSVD VYAFGILFWY
850 860 870 880 890 900
ICSGSVKLPE AFERCASKDH LWNNVRRGAR PERLPVFDEE CWQLMEACWD GDPLKRPLLG
910 920
IVQPMLQGIM NRLCKSNSEQ PNRGLDDST