Descriptions

TEK is an endothelial cell receptor tyrosine kinase that induces signal transduction pathways involved in cell migration upon angiopoietin-1 (Ang1) stimulation.
The juxtamembrane region (769-805) inhibits the kinase domain like other receptor tyrosine kinases. Deletion of the C-terminal tail increases the kinase activity of TEK. The end of the C-terminal tail could block access to the substrate binding site.
Unlike other RTKs, in which the activation loop (A-loop, 982-1008) obstructs substrate or ATP binding in the inactive state, the A-loop of TEK assumes an active-like conformation, which would appear to facilitate substrate binding. However, the nucleotide binding loop adopts an apparent inhibitory conformation, with the side chains of several residues in this loop occupying the ATP binding site.

Autoinhibitory domains (AIDs)

Target domain

824-1096 (Protein kinase domain)

Relief mechanism

Assay

Target domain

824-1096 (Protein kinase domain)

Relief mechanism

Assay

Target domain

824-1096 (Protein kinase domain)

Relief mechanism

PTM

Assay

Accessory elements

981-1003 (Activation loop from InterPro)

Target domain

824-1096 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

17 structures for Q02763

Entry ID Method Resolution Chain Position Source
1FVR X-ray 220 A A/B 808-1124 PDB
2GY5 X-ray 290 A A 23-445 PDB
2GY7 X-ray 370 A B 23-445 PDB
2OO8 X-ray 220 A X 808-1124 PDB
2OSC X-ray 280 A A 808-1124 PDB
2P4I X-ray 250 A A/B 808-1124 PDB
2WQB X-ray 295 A A 802-1124 PDB
3BEA X-ray 202 A A 917-935 PDB
3L8P X-ray 240 A A 808-1124 PDB
4K0V X-ray 451 A A 23-542 PDB
4X3J X-ray 250 A A 802-1122 PDB
5MYA X-ray 290 A A/B 443-742 PDB
5MYB X-ray 260 A A/B 443-742 PDB
5UTK X-ray 250 A A/B 442-741 PDB
6MWE X-ray 205 A A/B 808-1124 PDB
7E72 X-ray 209 A E/F 541-735 PDB
AF-Q02763-F1 Predicted AlphaFoldDB

772 variants for Q02763

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001167530
rs146485295
CA5015809
4 L>F Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001167531
CA5015870
rs764880845
89 K>N Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs572527340
RCV001514048
CA5015873
RCV000389443
103 E>D Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000415600
CA16043930
rs753021890
150 E>* Glaucoma 3, primary congenital, E [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001168161
rs752000002
CA5015941
162 I>F Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000991222
rs1587545234
CA373123325
193 Y>C Glaucoma 3, primary congenital, E [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_041856
CA5015983
rs35814893
RCV000292023
226 A>V Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs138708761
RCV001168163
CA5016019
259 T>M Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA5016039
rs146169480
VAR_078047
RCV001168164
294 K>N Multiple cutaneous and mucosal venous malformations GLC3E; unknown pathological significance; 10-fold decrease of Tyr-1102 phosphorylation; no effect on membrane location [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA16043929
RCV000415569
rs541217363
307 Y>* Glaucoma 3, primary congenital, E [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001198609
rs752184169
CA5016069
308 G>R Glaucoma 3, primary congenital, E [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001166087
rs1824476725
363 S>G Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinVar
dbSNP
VAR_048003
RCV000391730
rs34032300
CA5016136
391 T>I Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5016164
rs573051752
RCV001168304
400 H>R Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000756770
rs189543659
CA5016199
RCV001168306
438 N>S Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200857533
CA5016224
RCV000378512
463 I>V Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs746069957
CA5016225
RCV000284143
464 N>H Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000375749
CA5016280
RCV002058795
rs138894008
522 R>L Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000336197
rs780560474
CA10633362
565 P>R Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
CA5016326
RCV000296318
rs35030851
RCV001653762
VAR_041857
600 V>L Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1306527531
VAR_078048
CA373113665
611 Y>C GLC3E; reduced response to ligand; loss of ligand-induced phosphorylation; no effect on basal membrane location [UniProt] Yes ClinGen
UniProt
dbSNP
gnomAD
rs764571511
RCV000351251
CA5016336
612 V>M Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1825075746
RCV001168373
629 L>F Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinVar
dbSNP
RCV001000606
CA5016345
RCV000311560
VAR_041858
rs35378598
634 L>F Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs886063822
COSM129654
CA10629859
RCV000404627
658 S>Y upper_aerodigestive_tract Multiple cutaneous and mucosal venous malformations [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
RCV001169122
rs1825275848
709 Q>K Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinVar
dbSNP
RCV001166201
rs767813511
CA5016447
743 G>R Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs777012163
RCV000359712
CA10629860
815 I>T Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs376225163
CA5016511
RCV001253976
849 R>Q Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA340900
rs80338908
COSM1228889
VAR_006352
849 R>W VMCM; increased ligand-independent autophosphorylation and kinase activation; no effect on location at membrane large_intestine [UniProt, Cosmic] Yes ClinGen
cosmic curated
UniProt
TOPMed
dbSNP
gnomAD
RCV001265074
rs1825511679
893 E>V Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinVar
dbSNP
RCV001327971
rs80338909
RCV000022955
VAR_066606
CA259741
RCV000756767
897 Y>C VMCM; increased ligand-independent autophosphorylation and kinase activation Multiple cutaneous and mucosal venous malformations [UniProt, ClinVar] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_008716
CA340902
rs80338909
RCV000009877
897 Y>S VMCM; also found in a patient with solitary sporadic venous malformations; increased ligand-independent autophosphorylation and kinase activation Multiple cutaneous and mucosal venous malformations [UniProt, ClinVar] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001327973
rs1825682849
RCV001799752
914 L>F Bockenheimer syndrome [ClinVar] Yes ClinVar
dbSNP
rs387906745
VAR_066607
CA259743
RCV000022956
915 R>H Multiple cutaneous and mucosal venous malformations VMCM; strongly increased ligand-independent autophosphorylation and kinase activation [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001196199
CA5016579
rs138463877
925 A>T Glaucoma 3, primary congenital, E [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs143080429
CA5016593
RCV001166700
943 H>Y Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
dbSNP
gnomAD
rs1564115375
RCV000778880
1085 F>missing Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinVar
dbSNP
RCV000680123
rs1564116253
CA373131413
1116 I>T Multiple cutaneous and mucosal venous malformations [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA191324959
rs977092623
2 D>E No ClinGen
TOPMed
gnomAD
CA373118392
rs1167183814
5 A>G No ClinGen
TOPMed
COSM455790
rs745710118
COSM1489915
CA5015810
9 L>F breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1156587696
CA373118485
9 L>P No ClinGen
gnomAD
rs769386115
CA5015811
10 C>Y No ClinGen
ExAC
gnomAD
CA373118515
rs1253878620
12 V>I No ClinGen
gnomAD
rs201171013
CA5015812
13 S>I No ClinGen
ExAC
gnomAD
rs1158070915
CA373118557
14 L>W No ClinGen
gnomAD
rs1564028920
CA373118585
16 L>F No ClinGen
Ensembl
rs149096702
CA5015813
17 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA373118604
rs149096702
17 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143178677
CA5015827
20 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5015826
rs202051322
20 V>M No ClinGen
ExAC
gnomAD
rs1332564163
CA373118152
22 G>C No ClinGen
TOPMed
rs1416661592
CA373118223
27 I>T No ClinGen
TOPMed
rs757194893
CA5015829
28 L>W No ClinGen
ExAC
gnomAD
CA5015833
rs779625499
34 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA191314651
rs779625499
34 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs754655302
CA5015835
35 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA373118423
rs1195201762
36 S>C No ClinGen
gnomAD
CA373118514
rs1587530870
39 E>V No ClinGen
Ensembl
rs932882162
CA191314673
40 T>I No ClinGen
TOPMed
gnomAD
CA5015836
rs778457323
41 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1564066061
CA373118611
42 L>V No ClinGen
Ensembl
CA5015839
rs777314139
46 A>T No ClinGen
ExAC
gnomAD
CA5015840
rs200755526
46 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs998969484
CA191314693
47 S>C No ClinGen
TOPMed
rs775700953
CA5015843
50 R>C No ClinGen
ExAC
gnomAD
CA5015844
COSM277643
rs764269402
50 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA5015846
rs140406342
51 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5015848
rs750372594
52 H>R No ClinGen
ExAC
gnomAD
rs1564066113
CA373118778
52 H>Y No ClinGen
Ensembl
CA5015849
rs763083737
53 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs766158671
CA5015850
54 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA5015851
rs753618196
54 P>H No ClinGen
ExAC
gnomAD
CA373118806
rs766158671
54 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA5015852
rs754637849
55 I>M No ClinGen
ExAC
gnomAD
CA373118826
rs1228700109
56 T>I No ClinGen
TOPMed
gnomAD
CA5015853
rs778455109
56 T>P No ClinGen
ExAC
gnomAD
rs769044139
CA191314755
57 I>V No ClinGen
TOPMed
CA373118835
rs1272264375
58 G>R No ClinGen
gnomAD
rs747657032
CA5015854
59 R>W No ClinGen
ExAC
gnomAD
rs1053247340
CA191314765
60 D>Y No ClinGen
TOPMed
CA5015855
rs369048700
63 A>G No ClinGen
ESP
ExAC
gnomAD
rs1282805932
CA373118868
63 A>T No ClinGen
TOPMed
CA5015857
rs746368893
65 M>I No ClinGen
ExAC
gnomAD
CA373118883
rs1190326490
65 M>T No ClinGen
gnomAD
CA5015856
rs373772509
65 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5015858
rs770461384
66 N>S No ClinGen
ExAC
gnomAD
CA373118895
rs1164319547
67 Q>E No ClinGen
gnomAD
CA5015859
rs775899168
69 Q>H No ClinGen
ExAC
gnomAD
CA5015860
rs749635911
70 D>G No ClinGen
ExAC
gnomAD
CA5015861
rs144348052
71 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1445190259
CA373118937
73 E>A No ClinGen
TOPMed
CA5015863
rs761822823
75 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1316259184
CA373118957
76 Q>R No ClinGen
gnomAD
CA5015865
rs146302981
78 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs575190843
CA5015864
78 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1332500045
CA373118977
79 T>S No ClinGen
gnomAD
rs766278026
CA5015867
82 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs1349425817
CA373119013
84 K>I No ClinGen
gnomAD
COSM1237950
COSM1237951
CA373119027
rs1257598929
85 K>N thyroid [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs753623288
CA5015868
85 K>R No ClinGen
ExAC
gnomAD
CA5015869
rs759283621
86 V>I No ClinGen
ExAC
gnomAD
rs758187604
CA5015872
91 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1554691653
RCV000599209
CA658797190
91 E>Q No ClinGen
ClinVar
Ensembl
dbSNP
CA373119155
rs1364627600
93 A>S No ClinGen
gnomAD
CA5015874
rs751162215
105 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs760650172
CA191314887
106 V>I No ClinGen
TOPMed
gnomAD
CA5015875
rs370256501
107 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1236479837
CA373119502
109 E>Q No ClinGen
gnomAD
rs563802185
CA191314913
109 E>V No ClinGen
Ensembl
CA5015877
rs749598237
111 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs768915163
CA373119616
113 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs768915163
CA5015878
113 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1302331916
CA373119626
114 R>* No ClinGen
gnomAD
CA5015879
rs760573137
114 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5015880
rs201999962
116 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1484952425
CA373119755
118 M>T No ClinGen
gnomAD
rs772321726
CA5015881
119 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs773256013
CA5015882
COSM1624887
COSM1624886
119 R>H liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA191314959
rs940125132
121 Q>E No ClinGen
Ensembl
CA373122410
rs1340549276
123 S>F No ClinGen
TOPMed
CA5015907
rs776834033
125 L>I No ClinGen
ExAC
gnomAD
CA5015911
rs539107517
127 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5015910
rs539107517
127 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5015914
rs201071647
130 T>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1490436976
CA373122453
131 M>V No ClinGen
TOPMed
gnomAD
CA191323518
rs1003139562
135 K>Q No ClinGen
TOPMed
CA191323523
COSM136703
COSM136704
rs868349346
137 D>N skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1213348161
CA373122501
138 N>D No ClinGen
gnomAD
rs1466318448
CA373122519
140 N>I No ClinGen
gnomAD
CA373122528
rs1410657220
141 I>M No ClinGen
TOPMed
CA373122529
rs568787338
142 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA5015917
rs568787338
142 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1260992609
CA373122546
144 K>R No ClinGen
gnomAD
rs894186550
CA191323533
146 V>L No ClinGen
Ensembl
rs35969327
VAR_041855
CA5015918
148 I>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5015919
rs753021890
150 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1175513951
CA373122608
153 A>P No ClinGen
gnomAD
rs1315371549
CA373122726
159 G>D No ClinGen
TOPMed
gnomAD
rs1315371549
CA373122729
159 G>V No ClinGen
TOPMed
gnomAD
rs757369820
CA5015942
162 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA373122897
rs1224579622
167 R>G No ClinGen
gnomAD
CA5015945
rs573385848
167 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA191324061
rs1050993601
168 H>R No ClinGen
TOPMed
COSM1700999
CA191324088
rs866968099
COSM1700998
169 E>K skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA191324102
rs891063377
172 D>H No ClinGen
TOPMed
gnomAD
CA5015947
rs749232854
173 I>N No ClinGen
ExAC
gnomAD
CA373123111
rs1188288779
177 H>N No ClinGen
TOPMed
rs1485283183
CA373123116
177 H>P No ClinGen
gnomAD
rs1482491209
CA373123123
178 L>M No ClinGen
TOPMed
CA191324106
rs991526480
183 P>L No ClinGen
TOPMed
gnomAD
CA373123239
rs1176335288
186 A>S No ClinGen
gnomAD
rs778829843
CA5015949
190 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA373123301
rs1376615443
191 A>D No ClinGen
gnomAD
CA373123304
rs1376615443
191 A>V No ClinGen
gnomAD
rs1224499253
CA373123379
197 N>S No ClinGen
gnomAD
CA373123393
rs1434692077
198 L>H No ClinGen
gnomAD
rs1564073304
CA373123388
198 L>I No ClinGen
Ensembl
CA5015951
rs540914328
201 S>L No ClinGen
1000Genomes
ExAC
gnomAD
CA373123425
rs1231966439
201 S>T No ClinGen
TOPMed
rs776194252
CA5015955
205 R>G No ClinGen
ExAC
gnomAD
rs751826780
CA5015958
208 V>I No ClinGen
ExAC
gnomAD
rs775884054
COSM95318
CA191324161
209 R>Q breast [Cosmic] No ClinGen
cosmic curated
Ensembl
CA5015959
rs762239847
209 R>W No ClinGen
ExAC
gnomAD
rs757042677
CA5015980
210 R>S No ClinGen
ExAC
gnomAD
rs1397738049
CA373124212
215 K>R No ClinGen
TOPMed
CA191325704
rs778827548
217 G>E No ClinGen
Ensembl
rs1320313686
CA373124260
218 P>S No ClinGen
gnomAD
rs993639918
CA191325708
221 N>K No ClinGen
TOPMed
rs144378392
CA5015982
222 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373124399
rs1268337363
225 T>I No ClinGen
gnomAD
rs374382893
CA373124422
228 M>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374382893
CA5015986
228 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5015985
rs758337448
228 M>V No ClinGen
ExAC
gnomAD
rs746860160
CA373124474
234 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs746860160
CA373124476
234 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs746860160
CA5015987
234 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA373124497
rs910332944
236 D>N No ClinGen
TOPMed
gnomAD
rs910332944
CA191325733
236 D>Y No ClinGen
TOPMed
gnomAD
rs1189042559
CA373124589
241 I>T No ClinGen
gnomAD
rs1824004002
RCV001200496
243 P>L No ClinVar
dbSNP
rs745322448
CA5015990
245 G>E No ClinGen
ExAC
gnomAD
rs1046808932
CA191325747
247 M>T No ClinGen
Ensembl
CA5015991
rs769331590
249 R>G No ClinGen
ExAC
gnomAD
CA5015992
rs774928388
250 T>M No ClinGen
ExAC
gnomAD
rs367963556
CA191325761
252 E>K No ClinGen
ESP
TOPMed
gnomAD
rs1236280412
CA373125042
256 E>D No ClinGen
gnomAD
CA373125101
rs138708761
259 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775578346
CA5016022
263 T>A No ClinGen
ExAC
gnomAD
rs774361560
CA191326048
267 R>M No ClinGen
Ensembl
CA5016024
rs764047256
269 S>I No ClinGen
ExAC
gnomAD
rs372307879
CA5016025
270 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5016026
rs757228426
271 Q>E No ClinGen
ExAC
gnomAD
rs1172998434
CA373125410
272 E>K No ClinGen
gnomAD
CA373125443
rs1364054872
273 G>E No ClinGen
TOPMed
rs1289366546
CA373125473
274 C>* No ClinGen
TOPMed
rs767297984
CA5016027
277 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs767297984
CA373125539
277 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs572299128
CA5016029
279 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs753348341
CA5016031
280 C>Y No ClinGen
ExAC
gnomAD
rs1439442871
CA373125687
285 Y>C No ClinGen
gnomAD
rs778613365
CA5016033
286 G>R No ClinGen
ExAC
gnomAD
rs1230096564
CA373125827
290 A>G No ClinGen
gnomAD
CA5016036
rs781677642
294 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA5016037
rs781677642
294 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5016038
rs770021561
294 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA373125958
rs1430287098
296 L>V No ClinGen
gnomAD
rs768693441
CA5016041
299 N>D No ClinGen
ExAC
gnomAD
CA373126081
rs1372354897
299 N>I No ClinGen
TOPMed
gnomAD
CA373126083
rs1372354897
299 N>S No ClinGen
TOPMed
gnomAD
CA191326101
rs867378828
300 E>K No ClinGen
gnomAD
CA373128525
rs1564080006
303 H>R No ClinGen
Ensembl
rs760714202
CA5016064
304 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA5016065
rs533028014
304 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs760714202
CA373128546
304 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1483032110
CA373128747
312 K>E No ClinGen
gnomAD
rs1196633186
CA373128792
314 R>G No ClinGen
TOPMed
rs763749051
CA5016071
314 R>S No ClinGen
ExAC
gnomAD
CA373128844
rs1157685615
316 S>T No ClinGen
TOPMed
gnomAD
COSM3745957
COSM3745958
CA373128888
rs1269117894
318 N>D liver [Cosmic] No ClinGen
cosmic curated
TOPMed
CA5016072
rs559473908
318 N>S No ClinGen
ExAC
gnomAD
rs944559197
CA191329749
319 N>D No ClinGen
gnomAD
rs756713430
CA5016073
319 N>S No ClinGen
ExAC
gnomAD
CA373128965
rs1301321963
321 E>K No ClinGen
gnomAD
CA5016075
rs749678742
322 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs755127644
CA5016076
325 R>C No ClinGen
ExAC
gnomAD
CA373129077
COSM1107968
rs1286718039
325 R>H endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
rs748176673
CA5016078
333 P>R No ClinGen
ExAC
gnomAD
CA373129258
rs1225402185
333 P>S No ClinGen
TOPMed
CA373129265
rs1236494921
334 G>R No ClinGen
gnomAD
CA5016079
rs772115655
336 Q>P No ClinGen
ExAC
gnomAD
rs1485231950
CA373129315
337 G>A No ClinGen
gnomAD
rs1324583954
CA373129308
337 G>R No ClinGen
TOPMed
rs1234286915
CA373129336
339 Q>R No ClinGen
gnomAD
rs776229235
CA373129377
341 E>D No ClinGen
ExAC
gnomAD
CA5016084
rs373027386
342 R>K No ClinGen
ESP
ExAC
gnomAD
rs373027386
CA5016085
342 R>T No ClinGen
ESP
ExAC
gnomAD
rs753116146
CA5016112
346 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA5016114
rs682632
346 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_048002
rs682632
CA5016113
346 Q>P No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs682632
CA373129747
346 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5016116
rs200235356
347 R>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5016117
rs781173340
348 M>I No ClinGen
ExAC
gnomAD
CA373129770
rs1418374590
348 M>V No ClinGen
TOPMed
rs1370820069
CA373129785
349 T>A No ClinGen
gnomAD
rs1478357889
CA373129791
349 T>S No ClinGen
gnomAD
CA5016118
rs745799653
351 K>N No ClinGen
ExAC
gnomAD
rs558150627
CA191331635
351 K>R No ClinGen
gnomAD
rs769912564
CA5016119
352 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA373129843
rs1587563955
354 D>N No ClinGen
Ensembl
CA191331640
rs898517468
356 P>T No ClinGen
Ensembl
CA373129916
rs1403618103
358 H>R No ClinGen
gnomAD
CA5016120
rs779939521
358 H>Y No ClinGen
ExAC
gnomAD
CA5016121
rs749100650
359 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA5016122
rs372811397
359 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373129928
rs749100650
359 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA5016124
rs541940165
363 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA5016125
rs771578973
368 P>L No ClinGen
ExAC
TOPMed
CA373130150
rs771578973
368 P>R No ClinGen
ExAC
TOPMed
rs868328598
CA191331664
368 P>S No ClinGen
TOPMed
gnomAD
rs1025520252
CA191331698
369 I>S No ClinGen
Ensembl
rs1286994139
CA373130161
369 I>V No ClinGen
gnomAD
CA373130186
rs1488875745
370 C>F No ClinGen
gnomAD
rs527402232
CA5016128
372 A>T No ClinGen
1000Genomes
ExAC
rs752991071
CA5016129
372 A>V No ClinGen
ExAC
gnomAD
COSM290852
CA373130330
rs1368043969
377 L>P large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA5016133
rs368494167
379 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1160319844
CA373130349
380 N>D No ClinGen
gnomAD
CA373130351
rs1408779439
380 N>S No ClinGen
gnomAD
CA373130355
rs1296261695
381 E>K No ClinGen
TOPMed
gnomAD
rs146464819
CA191331736
382 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373130388
rs1329480679
385 L>P No ClinGen
TOPMed
rs979217618
CA191331761
388 P>L No ClinGen
gnomAD
rs979217618
CA373130407
388 P>Q No ClinGen
gnomAD
rs1442085234
CA373130414
389 D>V No ClinGen
gnomAD
CA373130411
rs1276566506
389 D>Y No ClinGen
gnomAD
CA191331768
rs1039895878
392 V>E No ClinGen
TOPMed
CA373130437
rs780173078
393 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA373130440
rs1482245810
393 L>R No ClinGen
gnomAD
rs780173078
CA5016137
393 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA373130464
rs1310047403
395 P>Q No ClinGen
TOPMed
rs1254840237
CA373130475
397 D>N No ClinGen
gnomAD
rs770402439
CA5016162
397 D>V No ClinGen
ExAC
gnomAD
rs1254840237
CA373130477
397 D>Y No ClinGen
gnomAD
CA373130498
rs1233592203
400 H>Y No ClinGen
TOPMed
rs769059911
CA5016165
401 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs762117974
CA5016167
403 H>L No ClinGen
ExAC
gnomAD
CA5016170
rs761019104
406 V>L No ClinGen
ExAC
gnomAD
CA5016174
rs765089230
410 T>A No ClinGen
ExAC
gnomAD
CA373130577
rs1229985406
411 I>S No ClinGen
gnomAD
CA373130581
rs1279116842
412 H>Y No ClinGen
gnomAD
CA5016176
rs534867466
413 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA373130593
rs1196960973
413 R>Q No ClinGen
gnomAD
rs534867466
RCV000756766
CA5016175
413 R>W No ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs369394656
CA5016177
RCV000594522
414 I>L No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA373130608
rs1417765647
415 L>F No ClinGen
TOPMed
CA5016179
rs149712446
417 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1303503826
CA373130647
417 P>R No ClinGen
gnomAD
rs149712446
CA373130638
417 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149712446
CA5016180
417 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149842646
CA191332659
420 G>R No ClinGen
Ensembl
rs995858394
CA191332665
423 V>F No ClinGen
TOPMed
gnomAD
rs774742672
CA5016183
425 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA373130810
rs1476656901
425 S>R No ClinGen
TOPMed
gnomAD
CA373130843
rs1564083581
427 N>T No ClinGen
Ensembl
CA5016185
rs772536310
430 A>S No ClinGen
ExAC
gnomAD
CA373130901
rs1489568835
430 A>V No ClinGen
TOPMed
rs1293462439
CA373130908
431 G>R No ClinGen
gnomAD
CA5016189
rs75365911
432 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA5016190
rs776705446
432 M>R No ClinGen
ExAC
gnomAD
CA5016188
rs75365911
432 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs759561940
CA5016191
433 V>G No ClinGen
ExAC
gnomAD
rs765169315
CA5016192
434 E>G No ClinGen
ExAC
CA5016194
rs372461928
435 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5016193
rs372461928
435 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA191332695
rs148891712
436 P>A No ClinGen
ESP
TOPMed
CA5016196
rs751371541
436 P>L No ClinGen
ExAC
gnomAD
CA191332697
rs148891712
436 P>S No ClinGen
ESP
TOPMed
rs780743521
CA373131036
437 F>L No ClinGen
ExAC
gnomAD
CA5016197
rs756840280
437 F>S No ClinGen
ExAC
gnomAD
CA5016200
rs755557875
439 I>T No ClinGen
ExAC
gnomAD
CA373131076
rs1217204389
440 S>F No ClinGen
gnomAD
CA373131072
rs1217204389
440 S>Y No ClinGen
gnomAD
rs1262284788
CA373131084
441 V>G No ClinGen
gnomAD
rs779657608
CA5016201
442 K>E No ClinGen
ExAC
gnomAD
CA5016202
rs748662110
443 V>I No ClinGen
ExAC
gnomAD
CA373131599
rs1426305167
444 L>F No ClinGen
Ensembl
rs753410363
CA5016219
447 P>S No ClinGen
ExAC
gnomAD
CA5016220
rs149684174
449 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5016221
rs45607336
452 N>D No ClinGen
ESP
ExAC
gnomAD
COSM1107975
COSM1107974
CA5016223
rs373235916
453 V>M endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1220853156
CA373131733
454 I>T No ClinGen
TOPMed
gnomAD
rs1311385307
CA373131764
457 G>V No ClinGen
gnomAD
CA191334269
rs1023592101
458 H>P No ClinGen
TOPMed
gnomAD
rs1227294393
CA373131825
462 V>L No ClinGen
TOPMed
rs746069957
CA373131837
464 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA5016226
rs770072224
466 S>G No ClinGen
ExAC
gnomAD
rs775484004
CA5016227
467 S>C No ClinGen
ExAC
gnomAD
CA373131867
rs1193419868
468 E>G No ClinGen
gnomAD
rs1426379249
CA373131875
469 P>L No ClinGen
TOPMed
gnomAD
rs1431625003
CA373131896
472 G>A No ClinGen
gnomAD
rs578107670
CA191334290
476 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5016230
rs578107670
476 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1330823411
CA373131924
477 K>E No ClinGen
gnomAD
CA373131923
rs1330823411
477 K>Q No ClinGen
gnomAD
CA5016231
rs761850097
478 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA5016232
rs141586254
479 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA191334306
rs147057883
481 L>F No ClinGen
ESP
TOPMed
CA373131957
rs1275357194
482 L>V No ClinGen
gnomAD
CA373131962
rs1159159226
483 Y>H No ClinGen
TOPMed
CA373131977
rs1217201158
485 P>S No ClinGen
gnomAD
rs1197581101
CA373131986
486 V>A No ClinGen
gnomAD
rs1197581101
CA373131987
486 V>G No ClinGen
gnomAD
CA5016235
VAR_024578
rs1334811
486 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs941983896
CA191334319
487 N>Y No ClinGen
TOPMed
gnomAD
CA5016236
rs753357357
489 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs764885666
CA5016238
490 E>A No ClinGen
ExAC
gnomAD
rs1564086813
CA373132010
490 E>K No ClinGen
Ensembl
rs1189792557
CA373132019
491 A>S No ClinGen
gnomAD
CA373132028
rs1463435290
492 W>L No ClinGen
TOPMed
CA5016240
rs757847270
493 Q>H No ClinGen
ExAC
gnomAD
CA5016239
rs752077973
493 Q>R No ClinGen
ExAC
gnomAD
rs1448053519
CA373132047
495 I>F No ClinGen
TOPMed
gnomAD
rs562870152
CA191334333
496 Q>E No ClinGen
Ensembl
rs1205194428
CA373132056
496 Q>R No ClinGen
TOPMed
rs1217375894
CA373132061
497 V>L No ClinGen
TOPMed
gnomAD
CA191287503
rs888785247
499 N>H No ClinGen
Ensembl
CA373111228
rs1156663575
500 E>D No ClinGen
gnomAD
CA5016263
rs754055188
502 V>I No ClinGen
ExAC
gnomAD
CA5016265
rs200574110
503 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748262199
CA5016266
503 T>I No ClinGen
ExAC
gnomAD
rs748262199
CA5016268
503 T>K No ClinGen
ExAC
gnomAD
CA5016267
rs748262199
503 T>R No ClinGen
ExAC
gnomAD
rs973683738
CA191287562
505 N>H No ClinGen
TOPMed
gnomAD
CA373111286
rs1240033514
505 N>K No ClinGen
TOPMed
gnomAD
rs1240033514
CA373111285
505 N>K No ClinGen
TOPMed
gnomAD
CA373111277
rs973683738
505 N>Y No ClinGen
TOPMed
gnomAD
CA5016270
rs770814923
509 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA373111334
rs770814923
509 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA373111329
rs770814923
509 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs776631444
CA5016271
510 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1464003209
CA373111361
510 R>W No ClinGen
gnomAD
rs769580471
CA373111394
511 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA5016273
rs769580471
511 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs769580471
CA373111391
511 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1586994566
CA373111417
512 E>A No ClinGen
Ensembl
CA5016274
rs774826137
513 Y>C No ClinGen
ExAC
gnomAD
CA191287645
rs150236410
516 C>F No ClinGen
ESP
ExAC
gnomAD
CA5016276
rs150236410
516 C>Y No ClinGen
ESP
ExAC
gnomAD
CA373111500
rs1478200447
517 V>M No ClinGen
TOPMed
gnomAD
CA5016278
rs761238130
520 V>L No ClinGen
ExAC
gnomAD
CA373111584
rs1403394649
521 R>C No ClinGen
gnomAD
rs766717660
CA5016279
521 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1331501009
CA373111595
COSM136706
COSM136705
522 R>C skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs138894008
CA5016281
522 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1241289440
CA373111626
523 G>R No ClinGen
TOPMed
rs752669279
CA5016283
524 E>K No ClinGen
ExAC
gnomAD
rs758481469
CA5016284
525 G>A No ClinGen
ExAC
gnomAD
rs1186603557
CA373111662
525 G>R No ClinGen
gnomAD
rs758481469
CA373111670
525 G>V No ClinGen
ExAC
gnomAD
CA5016286
rs746958138
526 G>R No ClinGen
ExAC
gnomAD
CA191287716
rs879044076
527 E>Q No ClinGen
Ensembl
rs367917552
CA191287721
528 G>W No ClinGen
ESP
rs781074237
CA5016288
530 P>L No ClinGen
ExAC
gnomAD
CA373111777
rs1443704227
531 G>A No ClinGen
TOPMed
CA5016289
COSM1107985
rs539332352
COSM1107986
535 R>C endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs769524871
CA5016290
COSM247782
535 R>H prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA373111872
rs1426916828
536 F>L No ClinGen
gnomAD
rs1380805303
CA373111889
537 T>A No ClinGen
TOPMed
CA373111918
rs1387415583
539 A>V No ClinGen
TOPMed
rs1478623945
CA373111934
540 S>F No ClinGen
gnomAD
CA5016291
rs201629688
541 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5016293
COSM1461869
rs768209145
COSM1461870
542 G>R large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA373111953
COSM1461869
rs768209145
COSM1461870
542 G>R large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs963330863
CA191292057
544 P>S No ClinGen
TOPMed
gnomAD
CA373112709
rs1198721013
547 R>S No ClinGen
TOPMed
rs1439398603
CA373112730
548 G>D No ClinGen
gnomAD
rs1380005385
CA373112745
550 N>H No ClinGen
TOPMed
gnomAD
rs1312855889
CA373112810
553 P>S No ClinGen
gnomAD
rs1379082172
CA373112840
555 S>N No ClinGen
gnomAD
CA373112878
rs1587001241
556 Q>H No ClinGen
Ensembl
CA373112885
rs1240743213
557 T>N No ClinGen
gnomAD
rs1283376594
CA373112900
559 L>I No ClinGen
TOPMed
gnomAD
CA373112901
rs1283376594
559 L>V No ClinGen
TOPMed
gnomAD
CA373112921
rs35357088
560 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1211813067
CA373112914
560 N>S No ClinGen
gnomAD
rs1340307338
CA373112943
562 T>I No ClinGen
TOPMed
CA373112965
rs1251038300
564 Q>L No ClinGen
gnomAD
rs1587001298
CA373113012
568 P>L No ClinGen
Ensembl
rs190513747
CA191292128
569 S>T No ClinGen
1000Genomes
TOPMed
rs771377363
CA5016313
COSM3433085
COSM3433084
570 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA373113036
rs1239447063
570 S>P No ClinGen
gnomAD
rs954227920
CA191292137
571 E>K No ClinGen
TOPMed
gnomAD
rs1417648283
CA373113082
573 D>Y No ClinGen
gnomAD
rs760075260
CA5016315
575 Y>C No ClinGen
ExAC
gnomAD
CA191292169
rs867018293
580 R>K No ClinGen
Ensembl
CA373113238
rs1402541491
582 S>P No ClinGen
gnomAD
rs1447497076
CA373113293
585 K>N No ClinGen
gnomAD
CA5016318
rs763173969
586 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA373113304
rs1463371511
586 S>T No ClinGen
Ensembl
CA5016319
rs373551083
587 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748343404
CA191292197
587 D>N No ClinGen
gnomAD
rs1322459100
CA373113372
591 I>V No ClinGen
gnomAD
rs751643260
CA5016320
593 V>I No ClinGen
ExAC
gnomAD
rs757393856
CA5016321
594 P>A No ClinGen
ExAC
gnomAD
rs767748648
CA5016322
594 P>Q No ClinGen
ExAC
gnomAD
rs757393856
CA373113411
594 P>T No ClinGen
ExAC
gnomAD
rs1003721502
CA191292232
596 N>K No ClinGen
Ensembl
CA5016324
rs756064806
599 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA191292336
rs914823043
600 V>A No ClinGen
TOPMed
gnomAD
CA5016327
rs35030851
600 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5016329
rs747845143
604 N>T No ClinGen
ExAC
gnomAD
CA5016331
rs376770384
606 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5016332
rs376770384
606 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5016330
rs771538956
606 H>Y No ClinGen
ExAC
gnomAD
CA191292386
rs980201141
609 E>K No ClinGen
TOPMed
gnomAD
rs980201141
CA373113618
609 E>Q No ClinGen
TOPMed
gnomAD
rs762196494
CA5016338
COSM1107991
COSM1107992
614 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA5016340
rs750544688
615 A>T No ClinGen
ExAC
gnomAD
CA373113769
rs927503138
619 T>I No ClinGen
TOPMed
gnomAD
rs927503138
CA191292449
619 T>S No ClinGen
TOPMed
gnomAD
CA373113783
rs1302771890
620 K>N No ClinGen
gnomAD
CA373113772
rs1406046117
620 K>Q No ClinGen
gnomAD
rs760595005
CA5016341
621 A>S No ClinGen
ExAC
gnomAD
rs760595005
CA373113785
621 A>T No ClinGen
ExAC
gnomAD
CA5016343
rs753621515
622 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1165171292
CA373113810
622 Q>R No ClinGen
TOPMed
CA373113883
rs1394233793
626 S>R No ClinGen
Ensembl
rs1181437010
CA373113890
627 E>K No ClinGen
TOPMed
CA373113958
rs1265557781
631 A>S No ClinGen
gnomAD
rs867429615
CA191292482
632 W>* No ClinGen
Ensembl
rs1587001662
CA373113984
633 T>P No ClinGen
Ensembl
rs779357479
CA373114870
638 L>F No ClinGen
ExAC
gnomAD
CA5016373
rs779357479
638 L>V No ClinGen
ExAC
gnomAD
CA191297433
rs977561226
639 P>H No ClinGen
Ensembl
rs772374479
CA5016375
640 P>S No ClinGen
ExAC
gnomAD
rs1382751796
CA373114960
642 P>A No ClinGen
TOPMed
gnomAD
CA373114959
rs1382751796
642 P>T No ClinGen
TOPMed
gnomAD
CA5016376
rs773286289
644 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs1373898272
COSM184309
COSM3848288
CA373115123
646 K>N large_intestine breast [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1311993136
CA373115106
646 K>R No ClinGen
gnomAD
rs1351843336
CA373115145
647 I>T No ClinGen
gnomAD
CA373115174
rs1431839307
648 S>A No ClinGen
gnomAD
rs1204774906
CA373115178
648 S>F No ClinGen
gnomAD
rs760995397
CA5016377
649 N>D No ClinGen
ExAC
gnomAD
rs960097042
CA191297495
650 I>T No ClinGen
Ensembl
rs1442774267
CA373115293
651 T>I No ClinGen
gnomAD
rs776825926
CA5016379
652 H>L No ClinGen
ExAC
gnomAD
COSM1228892
rs759328878
CA5016380
654 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA373115376
rs1403854529
655 A>S No ClinGen
gnomAD
rs915911279
CA191297516
656 V>M No ClinGen
TOPMed
rs775224047
CA5016382
657 I>V No ClinGen
ExAC
rs1470335918
CA373115475
659 W>G No ClinGen
TOPMed
CA5016384
rs555832316
660 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA5016385
rs751169842
663 D>N No ClinGen
ExAC
gnomAD
rs1166371609
CA373115750
668 S>Y No ClinGen
TOPMed
CA373115797
rs1333874645
670 I>L No ClinGen
gnomAD
CA373115844
rs1476478574
671 T>I No ClinGen
TOPMed
rs766880665
CA5016387
672 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA5016388
rs749958421
673 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5016389
COSM1554766
rs772637203
COSM1554767
673 R>H lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5016390
rs779589176
675 K>Q No ClinGen
ExAC
gnomAD
rs56367117
CA191297598
VAR_041859
676 V>I No ClinGen
UniProt
TOPMed
dbSNP
gnomAD
rs56367117
CA373115951
676 V>L No ClinGen
TOPMed
gnomAD
CA373115967
rs748717101
677 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA5016391
rs748717101
677 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs758802336
CA5016392
678 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1459986467
CA373116029
679 K>N No ClinGen
gnomAD
CA373116044
rs1200471425
680 N>D No ClinGen
gnomAD
rs1251094590
CA373116060
680 N>K No ClinGen
gnomAD
CA5016393
rs112475919
682 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA5016394
rs112475919
682 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA5016395
rs771194504
683 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA373116153
rs771194504
683 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs35818764
CA373116203
684 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA191297672
rs35818764
684 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1379131208
CA373116168
684 H>Y No ClinGen
TOPMed
gnomAD
CA5016397
rs745978641
685 V>I No ClinGen
ExAC
gnomAD
CA191297730
rs1057067878
686 D>G No ClinGen
TOPMed
rs1453924397
CA373116311
688 K>M No ClinGen
TOPMed
rs769669218
CA5016398
689 I>M No ClinGen
ExAC
gnomAD
rs775381887
CA5016399
693 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA5016400
rs141769154
RCV000497383
693 T>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs774209662
CA5016402
694 I>M No ClinGen
ExAC
gnomAD
CA373116483
rs1327344153
695 T>I No ClinGen
gnomAD
CA373116699
rs1564095215
703 E>D No ClinGen
Ensembl
rs1168331105
CA373116717
704 P>L No ClinGen
TOPMed
rs749855784
CA5016405
704 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs866200806
CA191297777
705 E>K No ClinGen
Ensembl
CA5016406
rs755666325
708 Y>H No ClinGen
ExAC
gnomAD
CA373116860
rs1251934221
710 V>A No ClinGen
gnomAD
rs1220504722
CA373116850
710 V>M No ClinGen
gnomAD
rs1338723356
CA373116939
714 A>V No ClinGen
gnomAD
CA191297818
rs764976128
715 E>D No ClinGen
gnomAD
CA373117021
rs1198254073
718 I>M No ClinGen
gnomAD
rs753249243
CA5016408
719 G>R No ClinGen
ExAC
gnomAD
CA191297834
rs1010947710
721 S>R No ClinGen
Ensembl
rs759976151
CA5016409
722 N>S No ClinGen
ExAC
gnomAD
rs747400050
CA5016411
723 P>S No ClinGen
ExAC
gnomAD
rs4631561
VAR_041860
CA5016412
724 A>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA373117182
rs1367866328
726 S>F No ClinGen
gnomAD
CA191297903
rs996007909
727 H>P No ClinGen
TOPMed
CA5016413
rs373793318
727 H>Y No ClinGen
ESP
ExAC
gnomAD
rs1343917388
CA373117244
730 V>L No ClinGen
gnomAD
CA5016415
rs769832160
732 L>V No ClinGen
ExAC
gnomAD
rs564379441
CA5016416
736 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
rs771889665
CA5016439
738 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs771889665
CA373118032
738 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA373118034
rs1421190789
739 A>P No ClinGen
gnomAD
rs561507573
CA5016440
739 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759108843
CA5016443
740 D>E No ClinGen
ExAC
gnomAD
rs776237947
CA5016442
740 D>Y No ClinGen
ExAC
gnomAD
CA5016446
rs181093425
742 G>A No ClinGen
1000Genomes
ExAC
gnomAD
CA5016445
rs141520692
COSM1643804
COSM1643805
742 G>R stomach [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA5016449
rs202131936
743 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5016451
rs202131936
743 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA373118054
rs767813511
743 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA5016450
rs202131936
743 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5016448
rs767813511
743 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs923057858
CA191299948
744 G>E No ClinGen
TOPMed
gnomAD
rs752502743
CA5016454
745 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA5016455
rs771913589
747 L>P No ClinGen
ExAC
gnomAD
rs1350083768
CA373118097
749 I>M No ClinGen
TOPMed
rs1307247439
CA373118101
750 A>T No ClinGen
TOPMed
CA373118105
rs1407763523
750 A>V No ClinGen
TOPMed
rs45510599
CA5016456
752 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs746826748
CA5016457
754 S>C No ClinGen
ExAC
gnomAD
rs1308575431
CA373118191
757 M>T No ClinGen
TOPMed
CA373118226
rs1178178451
759 C>F No ClinGen
gnomAD
CA373118221
rs1178178451
759 C>S No ClinGen
gnomAD
rs1411046304
CA373118246
761 T>S No ClinGen
TOPMed
CA5016458
rs770657714
762 V>A No ClinGen
ExAC
gnomAD
CA373118258
rs1417614132
763 L>M No ClinGen
TOPMed
gnomAD
rs550587484
CA5016459
765 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA5016460
rs370492416
768 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA373118400
rs1174230775
769 I>T No ClinGen
gnomAD
CA5016461
rs145334606
769 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA191300094
rs555137213
777 V>E No ClinGen
1000Genomes
rs149152469
CA5016465
779 R>G No ClinGen
ESP
ExAC
rs1283461881
CA373118703
781 M>V No ClinGen
gnomAD
CA373118753
rs1322241171
784 A>V No ClinGen
TOPMed
gnomAD
CA373118805
rs1340991331
788 V>A No ClinGen
Ensembl
rs374265341
CA191300107
788 V>L No ClinGen
ESP
TOPMed
gnomAD
rs374265341
CA191300110
788 V>M No ClinGen
ESP
TOPMed
gnomAD
CA5016485
rs201024056
789 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759734452
CA5016486
789 R>K No ClinGen
ExAC
gnomAD
CA373119586
rs759734452
789 R>M No ClinGen
ExAC
gnomAD
rs201024056
CA5016484
789 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765405804
CA5016487
790 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA191301897
rs899733222
791 E>D No ClinGen
TOPMed
gnomAD
CA373119692
rs1164027603
794 V>G No ClinGen
TOPMed
gnomAD
rs752769971
CA5016488
794 V>M No ClinGen
ExAC
gnomAD
CA5016489
rs758529426
795 Q>P No ClinGen
ExAC
gnomAD
rs1422430410
CA373119727
796 F>S No ClinGen
gnomAD
CA191301919
rs143314314
797 N>S No ClinGen
ESP
rs1391746633
CA373119786
798 S>L No ClinGen
gnomAD
rs1311026554
CA373119762
798 S>T No ClinGen
TOPMed
CA5016490
rs764309451
799 G>V No ClinGen
ExAC
gnomAD
rs751536503
CA5016491
800 T>P No ClinGen
ExAC
gnomAD
CA5016494
rs745683853
804 N>I No ClinGen
ExAC
gnomAD
CA373119929
rs1587013983
804 N>K No ClinGen
Ensembl
rs1375573130
CA373119942
806 K>E No ClinGen
TOPMed
CA373119961
rs1316256258
806 K>R No ClinGen
gnomAD
rs749014021
CA5016497
807 V>D No ClinGen
ExAC
TOPMed
gnomAD
CA5016496
rs779551623
807 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs768154983
CA5016498
808 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs778454536
CA5016499
809 N>S No ClinGen
ExAC
gnomAD
CA373120057
rs747459353
811 P>S No ClinGen
ExAC
gnomAD
CA5016500
rs747459353
811 P>T No ClinGen
ExAC
gnomAD
CA373120094
rs1193383157
812 D>E No ClinGen
TOPMed
CA5016502
rs777012163
815 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs546234201
CA5016501
815 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA373120266
rs1226699871
818 V>L No ClinGen
gnomAD
CA191302008
rs1030030598
820 D>H No ClinGen
TOPMed
gnomAD
rs928209019
CA191302013
822 N>D No ClinGen
TOPMed
CA373120495
rs1442482528
825 K>R No ClinGen
TOPMed
gnomAD
rs532313466
CA373120589
828 D>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5016504
rs532313466
828 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775542431
CA5016505
830 I>V No ClinGen
ExAC
gnomAD
rs980242485
CA191302043
832 E>D No ClinGen
Ensembl
rs764254208
CA5016507
841 A>V No ClinGen
ExAC
gnomAD
COSM3413574
CA5016509
COSM3413573
rs147231791
842 R>C central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs200750146
CA5016510
842 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA373120905
rs200750146
842 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA373120930
rs1291186227
844 K>R No ClinGen
TOPMed
CA191302093
rs779255150
846 D>N No ClinGen
gnomAD
rs927009197
CA191302101
847 G>V No ClinGen
Ensembl
rs755835455
CA5016512
856 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA191302138
rs373458643
858 K>R No ClinGen
Ensembl
CA5016539
rs746347646
860 Y>C No ClinGen
ExAC
gnomAD
rs780498000
CA5016541
862 S>C No ClinGen
ExAC
gnomAD
CA5016542
rs749694269
865 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs769193766
CA5016543
866 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs748449440
CA5016545
870 A>V No ClinGen
ExAC
gnomAD
rs773360033
CA5016547
874 E>* No ClinGen
ExAC
CA191304613
rs978999358
875 V>A No ClinGen
TOPMed
CA191304621
rs201842573
COSM3848289
COSM3848290
881 H>Y breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
CA373122104
COSM20663
VAR_041861
rs1490428165
883 P>A ovary an ovarian serous carcinoma sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
TOPMed
dbSNP
gnomAD
CA373122108
rs1221271188
883 P>L No ClinGen
gnomAD
rs1490428165
CA373122105
883 P>S No ClinGen
TOPMed
gnomAD
rs1264655347
CA373122111
884 N>H No ClinGen
gnomAD
CA373122118
rs1195979036
885 I>V No ClinGen
gnomAD
CA5016549
rs766367343
886 I>N No ClinGen
ExAC
gnomAD
CA5016548
rs760465316
886 I>V No ClinGen
ExAC
gnomAD
rs776358378
CA5016550
887 N>S No ClinGen
ExAC
CA373122169
rs1564099624
893 E>K No ClinGen
Ensembl
rs1425543527
CA373122185
895 R>G No ClinGen
gnomAD
rs765053701
CA5016552
895 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA373122687
rs1587026471
899 Y>S No ClinGen
Ensembl
CA5016573
rs763838582
902 I>M No ClinGen
ExAC
gnomAD
CA191308689
rs527539252
902 I>T No ClinGen
Ensembl
rs1259635917
CA373122797
906 P>L No ClinGen
TOPMed
gnomAD
CA191308693
rs763860066
907 H>R No ClinGen
TOPMed
gnomAD
rs1368396917
CA373122838
908 G>A No ClinGen
gnomAD
rs1825683100
RCV001327972
918 R>C No ClinVar
dbSNP
CA373123039
RCV001706660
rs1554701458
RCV000519290
RCV001327974
918 R>H No ClinGen
ClinVar
Ensembl
dbSNP
rs754385594
CA5016577
922 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1291636206
CA373123150
925 A>V No ClinGen
TOPMed
rs1455660810
CA373123207
929 A>V No ClinGen
gnomAD
CA373123234
rs1587026588
932 T>P No ClinGen
Ensembl
rs1307510192
CA373123247
COSM184310
933 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs199701926
CA191308815
933 A>V No ClinGen
Ensembl
rs775106474
CA5016588
936 L>V No ClinGen
ExAC
gnomAD
rs774050237
CA5016591
939 Q>H No ClinGen
ExAC
gnomAD
CA5016595
rs760084463
945 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs765871870
CA5016596
946 A>T No ClinGen
ExAC
gnomAD
rs906836493
CA191308899
947 D>N No ClinGen
TOPMed
CA5016599
rs559941890
948 V>G No ClinGen
1000Genomes
ExAC
gnomAD
CA373123441
COSM1228893
rs1178015088
948 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs751789573
CA5016600
949 A>V No ClinGen
ExAC
gnomAD
CA5016601
rs376285577
950 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373123463
rs1201741867
950 R>W No ClinGen
gnomAD
CA373123519
rs1173801085
954 Y>H No ClinGen
gnomAD
rs1356088614
CA373123552
957 Q>E No ClinGen
gnomAD
rs776014609
CA5016631
972 V>A No ClinGen
ExAC
gnomAD
rs763449420
CA5016632
973 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA373123700
rs1388103911
973 G>C No ClinGen
gnomAD
rs763449420
CA191309868
973 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs764539097
CA5016633
974 E>K No ClinGen
ExAC
gnomAD
rs1427762794
CA373123725
976 Y>C No ClinGen
TOPMed
rs547805462
CA373123745
978 A>P No ClinGen
1000Genomes
TOPMed
CA191309894
rs547805462
978 A>S No ClinGen
1000Genomes
TOPMed
rs746131741
CA191309902
978 A>V No ClinGen
TOPMed
gnomAD
CA5016634
rs774649395
981 A>T No ClinGen
ExAC
gnomAD
rs867553064
CA191309915
987 R>* No ClinGen
Ensembl
rs940964074
CA191309920
988 G>D No ClinGen
TOPMed
gnomAD
rs940964074
CA373123876
988 G>V No ClinGen
TOPMed
gnomAD
CA191309945
rs370591821
997 M>I No ClinGen
ESP
rs778698155
CA5016642
997 M>T No ClinGen
ExAC
gnomAD
rs200011475
CA5016641
997 M>V No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA5016672
rs748589440
1002 V>A No ClinGen
ExAC
gnomAD
rs1564105728
CA373126016
1002 V>L No ClinGen
Ensembl
COSM2154292
rs772600804
COSM2154291
CA5016673
1003 R>C central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs773518368
CA5016674
COSM3788251
COSM3788250
1003 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA373126052
rs773518368
1003 R>L No ClinGen
ExAC
gnomAD
CA5016675
rs368457184
1007 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373126148
rs1409424508
1008 E>K No ClinGen
gnomAD
rs1042628209
CA191314767
1011 N>S No ClinGen
TOPMed
CA373126410
rs1347397840
1016 T>A No ClinGen
gnomAD
CA373126417
rs1233910639
1016 T>I No ClinGen
gnomAD
CA5016677
rs776718341
1017 T>P No ClinGen
ExAC
gnomAD
rs775661158
CA373127327
1024 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs775661158
CA5016710
1024 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA373127444
rs1167066833
1033 S>N No ClinGen
gnomAD
CA373127649
rs1473681158
1036 G>D No ClinGen
gnomAD
CA373127679
rs1471571855
1039 Y>* No ClinGen
gnomAD
rs780622660
CA5016751
1041 G>R No ClinGen
ExAC
gnomAD
rs955187413
CA191318066
1042 M>I No ClinGen
Ensembl
CA5016754
rs778810650
1043 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA373127775
rs748239410
1046 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA5016755
rs748239410
1046 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5016756
rs772087232
1048 Y>C No ClinGen
ExAC
gnomAD
CA373127858
rs1313264330
1049 E>D No ClinGen
gnomAD
rs1313264330
CA373127861
1049 E>D No ClinGen
gnomAD
rs760667841
CA5016758
1049 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA5016761
rs201502264
1053 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5016763
rs757635191
1057 L>H No ClinGen
ExAC
rs768746682
CA191318123
1057 L>R No ClinGen
Ensembl
CA191318145
rs910961031
1061 L>R No ClinGen
TOPMed
gnomAD
rs1180979541
CA373128164
1064 D>H No ClinGen
TOPMed
CA5016766
rs762495403
1066 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs763579590
CA5016767
1067 V>M No ClinGen
ExAC
gnomAD
CA5016795
rs779199653
1068 Y>N No ClinGen
ExAC
gnomAD
CA5016796
rs752902883
1070 L>I No ClinGen
ExAC
gnomAD
rs550879968
CA5016797
1071 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1320314975
CA373130713
1072 R>K No ClinGen
TOPMed
gnomAD
CA5016799
rs747117388
1075 W>C No ClinGen
ExAC
gnomAD
rs1450494405
CA373130782
1075 W>L No ClinGen
gnomAD
rs536255448
CA5016801
1076 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5016800
rs757379347
COSM375912
1076 R>W lung endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1183802346
CA373130818
1077 E>G No ClinGen
TOPMed
rs745861773
CA5016802
1079 P>A No ClinGen
ExAC
gnomAD
rs745861773
CA5016803
1079 P>S No ClinGen
ExAC
gnomAD
rs775161615
CA373130873
1080 Y>C No ClinGen
ExAC
gnomAD
rs1207956745
CA373130867
1080 Y>H No ClinGen
gnomAD
CA5016804
rs775161615
1080 Y>S No ClinGen
ExAC
gnomAD
CA373130900
rs1236576738
1081 E>D No ClinGen
gnomAD
rs1443880196
CA373130886
1081 E>K No ClinGen
gnomAD
rs1210421879
CA373130894
1081 E>V No ClinGen
gnomAD
CA373130956
rs1483739145
1085 F>V No ClinGen
TOPMed
CA5016806
rs548612956
1088 I>M No ClinGen
1000Genomes
ExAC
gnomAD
CA5016805
rs748930375
1088 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs747798649
CA191333665
1089 L>F No ClinGen
Ensembl
rs774194740
CA5016807
1090 V>L No ClinGen
ExAC
gnomAD
rs774194740
CA373131040
1090 V>M No ClinGen
ExAC
gnomAD
rs1564115424
CA373131059
1091 S>C No ClinGen
Ensembl
CA373131087
rs1010364099
1093 N>K No ClinGen
TOPMed
gnomAD
rs1386891182
CA373131095
1094 R>I No ClinGen
gnomAD
CA5016809
rs767200674
1095 M>K No ClinGen
ExAC
CA373131122
rs1587063954
1096 L>S No ClinGen
Ensembl
rs377406447
CA191333677
1097 E>D No ClinGen
Ensembl
rs1826418572
RCV001327975
1099 R>* No ClinVar
dbSNP
rs759970580
CA373131144
1099 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5016811
rs759970580
1099 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs759946610
CA5016829
1101 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA373131239
rs1252785127
1102 Y>H No ClinGen
gnomAD
CA373131277
rs1391070636
1104 N>I No ClinGen
TOPMed
gnomAD
rs751768682
CA5016833
COSM43022
COSM2150485
1106 T>M central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1826462356
RCV001327976
1108 Y>* No ClinVar
dbSNP
CA5016836
rs750490158
1108 Y>F No ClinGen
ExAC
gnomAD
rs756265363
COSM95321
CA5016837
1109 E>D lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA5016838
rs779823718
1110 K>R No ClinGen
ExAC
gnomAD
rs753878707
CA5016839
1112 T>A No ClinGen
ExAC
gnomAD
CA373131398
rs1587065866
1114 A>P No ClinGen
Ensembl
RCV001327977
rs1826463406
1115 G>* No ClinVar
dbSNP
rs1364520799
CA373131406
1115 G>E No ClinGen
TOPMed
COSM1648129
COSM753698
rs1298050036
CA373131417
1117 D>H lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA5016840
rs754804694
1118 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA5016842
rs747733324
1120 A>V No ClinGen
ExAC
gnomAD
rs369356295
CA191334224
1123 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs775859042
CA5016847
1124 A>D No ClinGen
ExAC
gnomAD

No associated diseases with Q02763

6 regional properties for Q02763

Type Name Position InterPro Accession
domain Protein kinase domain 98 - 366 IPR000719
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 98 - 357 IPR001245
domain SH3 domain 16 - 81 IPR001452
active_site Serine/threonine-protein kinase, active site 218 - 230 IPR008271
binding_site Protein kinase, ATP binding site 104 - 125 IPR017441
domain MLK1-3, SH3 domain 20 - 76 IPR035779

Functions

Description
EC Number 2.7.10.1 Protein-tyrosine kinases
Subcellular Localization
  • Cell membrane ; Single-pass type I membrane protein
  • Cell junction
  • Cell junction, focal adhesion
  • Cytoplasm, cytoskeleton
  • Secreted
  • Recruited to cell-cell contacts in quiescent endothelial cells (PubMed:18425119, PubMed:18425120)
  • Colocalizes with the actin cytoskeleton and at actin stress fibers during cell spreading
  • Recruited to the lower surface of migrating cells, especially the rear end of the cell
  • Proteolytic processing gives rise to a soluble extracellular domain that is secreted (PubMed:11806244)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

14 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
basal plasma membrane The region of the plasma membrane located at the basal end 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.
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.
cell surface The external part of the cell wall and/or plasma membrane.
cell-cell junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
centriolar satellite A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
microvillus Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

7 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
identical protein binding Binding to an identical protein or proteins.
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/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.
signaling receptor activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.
transmembrane receptor protein tyrosine kinase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.

34 GO annotations of biological process

Name Definition
angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
definitive hemopoiesis A second wave of blood cell production that, in vertebrates, generates long-term hemopoietic stem cells that continously provide erythroid, myeloid and lymphoid lineages throughout adulthood.
endothelial cell proliferation The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium.
glomerulus vasculature development The biological process whose specific outcome is the progression of a glomerulus vasculature from an initial condition to its mature state. This process begins with the formation of the glomerulus vasculature and ends with the mature structure. The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus.
heart development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
heart trabecula formation The process of creating a trabecula in the heart. A trabecula is a tissue element in the form of a small beam, strut or rod.
negative regulation of angiogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of endothelial cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process.
negative regulation of inflammatory response Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.
peptidyl-tyrosine phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of actin cytoskeleton reorganization Any process that activates or increases the frequency, rate or extent of actin cytoskeleton reorganization.
positive regulation of angiogenesis Any process that activates or increases angiogenesis.
positive regulation of endothelial cell migration Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of endothelial cell proliferation Any process that activates or increases the rate or extent of endothelial cell proliferation.
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 focal adhesion assembly Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions.
positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction.
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.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of phosphatidylinositol 3-kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
positive regulation of phosphatidylinositol 3-kinase signaling Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of protein kinase B signaling Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
protein autophosphorylation The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
regulation of endothelial cell apoptotic process Any process that modulates the frequency, rate or extent of endothelial cell apoptotic process.
regulation of establishment or maintenance of cell polarity Any process that modulates the frequency, rate or extent of the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns.
regulation of vascular permeability Any process that modulates the extent to which blood vessels can be pervaded by fluid.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
sprouting angiogenesis The extension of new blood vessels from existing vessels into avascular tissues, this process includes the specialization of endothelial cells into leading tip and stalk cells, proliferation and migration of the endothelial cells and cell adhesion resulting in angiogenic sprout fusion or lumen formation.
substrate adhesion-dependent cell spreading The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate.
Tie signaling pathway The series of molecular signals initiated by an angiopoietin binding to the Tie receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
transmembrane receptor protein tyrosine kinase signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

118 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P43481 KIT Mast/stem cell growth factor receptor Kit Bos taurus (Bovine) SS
Q06805 TIE1 Tyrosine-protein kinase receptor Tie-1 Bos taurus (Bovine) PR
Q06807 TEK Angiopoietin-1 receptor Bos taurus (Bovine) SS
Q28889 KIT Mast/stem cell growth factor receptor Kit Felis catus (Cat) (Felis silvestris catus) SS
P13369 CSF1R Macrophage colony-stimulating factor 1 receptor Felis catus (Cat) (Felis silvestris catus) SS
P18460 FGFR3 Fibroblast growth factor receptor 3 Gallus gallus (Chicken) SS
P21804 FGFR1 Fibroblast growth factor receptor 1 Gallus gallus (Chicken) SS
Q9PUF6 PDGFRA Platelet-derived growth factor receptor alpha Gallus gallus (Chicken) SS
Q08156 KIT Mast/stem cell growth factor receptor Kit Gallus gallus (Chicken) SS
Q8QHL3 FLT1 Vascular endothelial growth factor receptor 1 Gallus gallus (Chicken) SS
P18461 FGFR2 Fibroblast growth factor receptor 2 Gallus gallus (Chicken) SS
Q07407 htl Fibroblast growth factor receptor homolog 1 Drosophila melanogaster (Fruit fly) PR
Q6J9G0 STYK1 Tyrosine-protein kinase STYK1 Homo sapiens (Human) PR
P07949 RET Proto-oncogene tyrosine-protein kinase receptor Ret Homo sapiens (Human) EV
O15146 MUSK Muscle, skeletal receptor tyrosine-protein kinase Homo sapiens (Human) EV
Q01974 ROR2 Tyrosine-protein kinase transmembrane receptor ROR2 Homo sapiens (Human) EV
Q01973 ROR1 Inactive tyrosine-protein kinase transmembrane receptor ROR1 Homo sapiens (Human) PR
Q16832 DDR2 Discoidin domain-containing receptor 2 Homo sapiens (Human) SS
Q08345 DDR1 Epithelial discoidin domain-containing receptor 1 Homo sapiens (Human) EV
Q16620 NTRK2 BDNF/NT-3 growth factors receptor Homo sapiens (Human) EV
P04629 NTRK1 High affinity nerve growth factor receptor Homo sapiens (Human) EV
Q16288 NTRK3 NT-3 growth factor receptor Homo sapiens (Human) SS
P35916 FLT4 Vascular endothelial growth factor receptor 3 Homo sapiens (Human) SS
P17948 FLT1 Vascular endothelial growth factor receptor 1 Homo sapiens (Human) SS
P35968 KDR Vascular endothelial growth factor receptor 2 Homo sapiens (Human) EV
P29317 EPHA2 Ephrin type-A receptor 2 Homo sapiens (Human) SS
P21709 EPHA1 Ephrin type-A receptor 1 Homo sapiens (Human) SS
P54760 EPHB4 Ephrin type-B receptor 4 Homo sapiens (Human) SS
P29376 LTK Leukocyte tyrosine kinase receptor Homo sapiens (Human) SS
Q9UM73 ALK ALK tyrosine kinase receptor Homo sapiens (Human) EV
P08922 ROS1 Proto-oncogene tyrosine-protein kinase ROS Homo sapiens (Human) SS
P14616 INSRR Insulin receptor-related protein Homo sapiens (Human) SS
P08069 IGF1R Insulin-like growth factor 1 receptor Homo sapiens (Human) EV
P06213 INSR Insulin receptor Homo sapiens (Human) EV
P11362 FGFR1 Fibroblast growth factor receptor 1 Homo sapiens (Human) EV
P21802 FGFR2 Fibroblast growth factor receptor 2 Homo sapiens (Human) EV
P22455 FGFR4 Fibroblast growth factor receptor 4 Homo sapiens (Human) SS
P22607 FGFR3 Fibroblast growth factor receptor 3 Homo sapiens (Human) EV
Q12866 MERTK Tyrosine-protein kinase Mer Homo sapiens (Human) EV
Q04912 MST1R Macrophage-stimulating protein receptor Homo sapiens (Human) EV
P30530 AXL Tyrosine-protein kinase receptor UFO Homo sapiens (Human) PR
Q06418 TYRO3 Tyrosine-protein kinase receptor TYRO3 Homo sapiens (Human) SS
P08581 MET Hepatocyte growth factor receptor Homo sapiens (Human) EV
P04626 ERBB2 Receptor tyrosine-protein kinase erbB-2 Homo sapiens (Human) SS
Q15303 ERBB4 Receptor tyrosine-protein kinase erbB-4 Homo sapiens (Human) SS
P21860 ERBB3 Receptor tyrosine-protein kinase erbB-3 Homo sapiens (Human) SS
P00533 EGFR Epidermal growth factor receptor Homo sapiens (Human) EV
P34925 RYK Tyrosine-protein kinase RYK Homo sapiens (Human) PR
P35590 TIE1 Tyrosine-protein kinase receptor Tie-1 Homo sapiens (Human) PR
P10721 KIT Mast/stem cell growth factor receptor Kit Homo sapiens (Human) EV
P09619 PDGFRB Platelet-derived growth factor receptor beta Homo sapiens (Human) EV
P07333 CSF1R Macrophage colony-stimulating factor 1 receptor Homo sapiens (Human) SS
P16234 PDGFRA Platelet-derived growth factor receptor alpha Homo sapiens (Human) EV
P36888 FLT3 Receptor-type tyrosine-protein kinase FLT3 Homo sapiens (Human) EV
Q03142 Fgfr4 Fibroblast growth factor receptor 4 Mus musculus (Mouse) PR
P05532 Kit Mast/stem cell growth factor receptor Kit Mus musculus (Mouse) PR
Q91V87 Fgfrl1 Fibroblast growth factor receptor-like 1 Mus musculus (Mouse) PR
P35917 Flt4 Vascular endothelial growth factor receptor 3 Mus musculus (Mouse) SS
P05622 Pdgfrb Platelet-derived growth factor receptor beta Mus musculus (Mouse) SS
P09581 Csf1r Macrophage colony-stimulating factor 1 receptor Mus musculus (Mouse) SS
P35969 Flt1 Vascular endothelial growth factor receptor 1 Mus musculus (Mouse) SS
P35546 Ret Proto-oncogene tyrosine-protein kinase receptor Ret Mus musculus (Mouse) SS
Q00342 Flt3 Receptor-type tyrosine-protein kinase FLT3 Mus musculus (Mouse) SS
Q6J9G1 Styk1 Tyrosine-protein kinase STYK1 Mus musculus (Mouse) PR
P16092 Fgfr1 Fibroblast growth factor receptor 1 Mus musculus (Mouse) SS
Q61851 Fgfr3 Fibroblast growth factor receptor 3 Mus musculus (Mouse) PR
P35918 Kdr Vascular endothelial growth factor receptor 2 Mus musculus (Mouse) PR
P21803 Fgfr2 Fibroblast growth factor receptor 2 Mus musculus (Mouse) SS
P26618 Pdgfra Platelet-derived growth factor receptor alpha Mus musculus (Mouse) SS
Q06806 Tie1 Tyrosine-protein kinase receptor Tie-1 Mus musculus (Mouse) SS
Q02858 Tek Angiopoietin-1 receptor Mus musculus (Mouse) SS
Q2HWD6 KIT Mast/stem cell growth factor receptor Kit Sus scrofa (Pig) SS
Q7TQM3 Fgfrl1 Fibroblast growth factor receptor-like 1 Rattus norvegicus (Rat) PR
P53767 Flt1 Vascular endothelial growth factor receptor 1 Rattus norvegicus (Rat) PR
P20786 Pdgfra Platelet-derived growth factor receptor alpha Rattus norvegicus (Rat) SS
Q91ZT1 Flt4 Vascular endothelial growth factor receptor 3 Rattus norvegicus (Rat) SS
Q04589 Fgfr1 Fibroblast growth factor receptor 1 Rattus norvegicus (Rat) SS
G3V9H8 Ret Proto-oncogene tyrosine-protein kinase receptor Ret Rattus norvegicus (Rat) SS
Q498D6 Fgfr4 Fibroblast growth factor receptor 4 Rattus norvegicus (Rat) PR
Q05030 Pdgfrb Platelet-derived growth factor receptor beta Rattus norvegicus (Rat) SS
O08775 Kdr Vascular endothelial growth factor receptor 2 Rattus norvegicus (Rat) SS
Q17833 old-1 Tyrosine-protein kinase receptor old-1 Caenorhabditis elegans PR
Q19238 F09A5.2 Putative tyrosine-protein kinase F09A5.2 Caenorhabditis elegans SS
Q10656 egl-15 Myoblast growth factor receptor egl-15 Caenorhabditis elegans PR
P34892 kin-16 Receptor-like tyrosine-protein kinase kin-16 Caenorhabditis elegans PR
G5ED65 ver-1 Protein ver-1 Caenorhabditis elegans PR
Q9LPZ9 SD113 G-type lectin S-receptor-like serine/threonine-protein kinase SD1-13 Arabidopsis thaliana (Mouse-ear cress) SS
Q9SXB5 At1g11303 G-type lectin S-receptor-like serine/threonine-protein kinase At1g11303 Arabidopsis thaliana (Mouse-ear cress) PR
O64783 At1g61370 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61370 Arabidopsis thaliana (Mouse-ear cress) SS
Q9SY95 At1g61550 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61550 Arabidopsis thaliana (Mouse-ear cress) SS
O64782 SD129 G-type lectin S-receptor-like serine/threonine-protein kinase SD1-29 Arabidopsis thaliana (Mouse-ear cress) SS
O64774 At1g61460 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61460 Arabidopsis thaliana (Mouse-ear cress) PR
O64778 At1g61420 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61420 Arabidopsis thaliana (Mouse-ear cress) SS
O81833 SD11 G-type lectin S-receptor-like serine/threonine-protein kinase SD1-1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LW83 CES101 G-type lectin S-receptor-like serine/threonine-protein kinase CES101 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SXB4 At1g11300 G-type lectin S-receptor-like serine/threonine-protein kinase At1g11300 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SYA0 At1g61500 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61500 Arabidopsis thaliana (Mouse-ear cress) SS
O64770 At1g61490 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61490 Arabidopsis thaliana (Mouse-ear cress) SS
O64477 At2g19130 G-type lectin S-receptor-like serine/threonine-protein kinase At2g19130 Arabidopsis thaliana (Mouse-ear cress) SS
O64776 At1g61440 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61440 Arabidopsis thaliana (Mouse-ear cress) SS
O64780 At1g61400 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61400 Arabidopsis thaliana (Mouse-ear cress) SS
Q8RWZ5 SD25 G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5 Arabidopsis thaliana (Mouse-ear cress) PR
Q94AG2 SERK1 Somatic embryogenesis receptor kinase 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q3E991 PRK6 Pollen receptor-like kinase 6 Arabidopsis thaliana (Mouse-ear cress) PR
O64793 At1g67520 G-type lectin S-receptor-like serine/threonine-protein kinase At1g67520 Arabidopsis thaliana (Mouse-ear cress) PR
O64784 At1g61360 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61360 Arabidopsis thaliana (Mouse-ear cress) SS
Q39203 SD22 G-type lectin S-receptor-like serine/threonine-protein kinase SD2-2 Arabidopsis thaliana (Mouse-ear cress) SS
Q9FXF2 RKF1 Probable LRR receptor-like serine/threonine-protein kinase RFK1 Arabidopsis thaliana (Mouse-ear cress) PR
Q8AXB3 kdrl Vascular endothelial growth factor receptor kdr-like Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q5GIT4 kdr Vascular endothelial growth factor receptor 2 Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q90Z00 fgfr1a Fibroblast growth factor receptor 1-A Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q8JG38 fgfr2 Fibroblast growth factor receptor 2 Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q9I8N6 csf1r Macrophage colony-stimulating factor 1 receptor Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q90413 fgfr4 Fibroblast growth factor receptor 4 Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q9DE49 pdgfra Platelet-derived growth factor receptor alpha Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q8JFR5 kita Mast/stem cell growth factor receptor kita Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q5MD89 flt4 Vascular endothelial growth factor receptor 3 Danio rerio (Zebrafish) (Brachydanio rerio) SS
O73791 tek Angiopoietin-1 receptor Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MDSLASLVLC GVSLLLSGTV EGAMDLILIN SLPLVSDAET SLTCIASGWR PHEPITIGRD
70 80 90 100 110 120
FEALMNQHQD PLEVTQDVTR EWAKKVVWKR EKASKINGAY FCEGRVRGEA IRIRTMKMRQ
130 140 150 160 170 180
QASFLPATLT MTVDKGDNVN ISFKKVLIKE EDAVIYKNGS FIHSVPRHEV PDILEVHLPH
190 200 210 220 230 240
AQPQDAGVYS ARYIGGNLFT SAFTRLIVRR CEAQKWGPEC NHLCTACMNN GVCHEDTGEC
250 260 270 280 290 300
ICPPGFMGRT CEKACELHTF GRTCKERCSG QEGCKSYVFC LPDPYGCSCA TGWKGLQCNE
310 320 330 340 350 360
ACHPGFYGPD CKLRCSCNNG EMCDRFQGCL CSPGWQGLQC EREGIQRMTP KIVDLPDHIE
370 380 390 400 410 420
VNSGKFNPIC KASGWPLPTN EEMTLVKPDG TVLHPKDFNH TDHFSVAIFT IHRILPPDSG
430 440 450 460 470 480
VWVCSVNTVA GMVEKPFNIS VKVLPKPLNA PNVIDTGHNF AVINISSEPY FGDGPIKSKK
490 500 510 520 530 540
LLYKPVNHYE AWQHIQVTNE IVTLNYLEPR TEYELCVQLV RRGEGGEGHP GPVRRFTTAS
550 560 570 580 590 600
IGLPPPRGLN LLPKSQTTLN LTWQPIFPSS EDDFYVEVER RSVQKSDQQN IKVPGNLTSV
610 620 630 640 650 660
LLNNLHPREQ YVVRARVNTK AQGEWSEDLT AWTLSDILPP QPENIKISNI THSSAVISWT
670 680 690 700 710 720
ILDGYSISSI TIRYKVQGKN EDQHVDVKIK NATITQYQLK GLEPETAYQV DIFAENNIGS
730 740 750 760 770 780
SNPAFSHELV TLPESQAPAD LGGGKMLLIA ILGSAGMTCL TVLLAFLIIL QLKRANVQRR
790 800 810 820 830 840
MAQAFQNVRE EPAVQFNSGT LALNRKVKNN PDPTIYPVLD WNDIKFQDVI GEGNFGQVLK
850 860 870 880 890 900
ARIKKDGLRM DAAIKRMKEY ASKDDHRDFA GELEVLCKLG HHPNIINLLG ACEHRGYLYL
910 920 930 940 950 960
AIEYAPHGNL LDFLRKSRVL ETDPAFAIAN STASTLSSQQ LLHFAADVAR GMDYLSQKQF
970 980 990 1000 1010 1020
IHRDLAARNI LVGENYVAKI ADFGLSRGQE VYVKKTMGRL PVRWMAIESL NYSVYTTNSD
1030 1040 1050 1060 1070 1080
VWSYGVLLWE IVSLGGTPYC GMTCAELYEK LPQGYRLEKP LNCDDEVYDL MRQCWREKPY
1090 1100 1110 1120
ERPSFAQILV SLNRMLEERK TYVNTTLYEK FTYAGIDCSA EEAA