Descriptions

(Annotation based on sequence homology with P29323)
Ephrin type-B receptor 2 is a membrane-associated protein that mediates axon guidance, cell migration and morphogenesis. The Eph receptor tyrosine kinase family is regulated by autophosphorylation within the juxtamembrane region and the kinase activation segment. The structure, supported by mutagenesis data, reveals that the juxtamembrane segment adopts a helical conformation that distorts the small lobe of the kinase domain, and blocks the activation segment from attaining an activated conformation. Phosphorylation of the conserved juxtamembrane tyrosines would relieve this autoinhibition by disturbing the association of the juxtamembrane segment with the kinase domain, while liberating phosphotyrosine sites for binding SH2 domains of target proteins.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

763-789 (Activation loop from InterPro)

Target domain

621-882 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

29 structures for P29320

Entry ID Method Resolution Chain Position Source
2GSF X-ray 177 A A 577-947 PDB
2QO2 X-ray 160 A A 577-947 PDB
2QO7 X-ray 160 A A 577-947 PDB
2QO9 X-ray 155 A A 577-947 PDB
2QOB X-ray 165 A A 609-947 PDB
2QOC X-ray 125 A A 609-947 PDB
2QOD X-ray 115 A A 577-947 PDB
2QOF X-ray 120 A A 577-947 PDB
2QOI X-ray 125 A A 577-947 PDB
2QOK X-ray 120 A A 577-947 PDB
2QOL X-ray 107 A A 577-947 PDB
2QON X-ray 179 A A 577-947 PDB
2QOO X-ray 125 A A 577-947 PDB
2QOQ X-ray 160 A A 577-947 PDB
3DZQ X-ray 175 A A 609-947 PDB
3FXX X-ray 170 A A 577-947 PDB
3FY2 X-ray 180 A A 577-947 PDB
4G2F X-ray 170 A A 609-947 PDB
4GK2 X-ray 220 A A 609-947 PDB
4GK3 X-ray 190 A A 609-947 PDB
4GK4 X-ray 210 A A 609-947 PDB
4L0P X-ray 226 A A 29-201 PDB
4P4C X-ray 160 A A 609-947 PDB
4P5Q X-ray 135 A A 606-947 PDB
4P5Z X-ray 200 A A 606-947 PDB
4TWN X-ray 171 A A 609-947 PDB
4TWO X-ray 205 A A 609-947 PDB
6IN0 X-ray 150 A A 612-904 PDB
AF-P29320-F1 Predicted AlphaFoldDB

792 variants for P29320

Variant ID(s) Position Change Description Diseaes Association Provenance
COSM1176710
CA353701150
rs770282917
COSM1176711
2 D>N endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA2502189
rs770282917
2 D>Y No ClinGen
ExAC
gnomAD
rs775889890
CA2502190
3 C>S No ClinGen
ExAC
gnomAD
CA2502192
rs764355602
6 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs751989411
CA2502194
7 I>L No ClinGen
ExAC
TCGA novel 7 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750454214
CA2502197
8 L>F No ClinGen
ExAC
gnomAD
rs771405440
CA2502198
10 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA79216396
rs369721497
14 S>F No ClinGen
ExAC
gnomAD
rs780224889
CA2502199
14 S>P No ClinGen
ExAC
gnomAD
rs369721497
CA2502200
14 S>Y No ClinGen
ExAC
gnomAD
rs758417906
CA2502201
15 V>A No ClinGen
ExAC
gnomAD
CA79216397
rs373387079
15 V>F No ClinGen
Ensembl
rs1194741028
CA353701245
17 D>E No ClinGen
TOPMed
rs1461534861
CA353701242
17 D>G No ClinGen
gnomAD
rs201110271
CA2502202
17 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353701246
rs1480670631
18 S>R No ClinGen
TOPMed
CA353701255
rs1559734115
19 F>L No ClinGen
Ensembl
CA2502204
rs141456190
21 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353701292
rs1433031247
24 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353701295
rs1236884924
25 Q>K No ClinGen
TOPMed
CA353701302
rs1341481107
26 P>A No ClinGen
TOPMed
gnomAD
CA353701315
rs1559734152
28 N>D No ClinGen
Ensembl
CA2502206
rs745339448
28 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA353701347
rs1347546355
30 V>A No ClinGen
gnomAD
rs1157209705
CA353701349
31 N>D No ClinGen
gnomAD
rs1321323037
COSM1425618
CA353701390
COSM1425619
37 T>A large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
VAR_036086 37 T>K a colorectal cancer sample; somatic mutation [UniProt] No UniProt
rs1295767981
CA353701396
38 I>V No ClinGen
gnomAD
rs760801471
CA2502232
39 Q>E No ClinGen
ExAC
gnomAD
rs760801471
CA353701401
39 Q>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2502234
rs374211029
41 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA79218120
rs756018331
42 L>P No ClinGen
Ensembl
rs372273179
CA2502236
43 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372273179
CA353701427
43 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA79218121
rs368633855
43 G>S No ClinGen
ESP
TOPMed
gnomAD
CA2502237
rs139262347
45 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM731481
CA353701448
rs1559743082
46 S>C lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA353701469
rs1559743096
49 S>L No ClinGen
Ensembl
rs993037877
CA79218123
50 H>N No ClinGen
TOPMed
gnomAD
CA353701473
rs1468754976
50 H>R No ClinGen
TOPMed
rs750238747
CA2502240
51 G>R No ClinGen
ExAC
gnomAD
TCGA novel 54 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353701773
rs1223603848
56 S>N No ClinGen
gnomAD
rs753507903
CA2502262
57 G>D No ClinGen
ExAC
gnomAD
CA353701805
rs1359245420
58 V>A No ClinGen
gnomAD
rs1310714298
CA353701859
61 H>R No ClinGen
gnomAD
CA353701855
rs1487544308
61 H>Y No ClinGen
gnomAD
CA353701929
rs1354537650
66 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1400426073
CA353701935
67 T>N No ClinGen
gnomAD
CA353701944
rs1279990429
68 Y>H No ClinGen
TOPMed
gnomAD
CA2502264
rs778392937
72 N>S No ClinGen
ExAC
gnomAD
TCGA novel 73 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752206333
CA2502265
75 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA79225393
rs267599943
75 D>N No ClinGen
Ensembl
CA2502266
rs565897036
76 H>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778365543
CA2502267
77 S>G No ClinGen
ExAC
gnomAD
TCGA novel 78 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1262037812
CA353702065
79 N>S No ClinGen
gnomAD
rs1213239892
CA353702100
82 L>M No ClinGen
TOPMed
gnomAD
rs1019076961
CA79225394
83 R>I No ClinGen
TOPMed
gnomAD
VAR_036087 85 N>S a colorectal cancer sample; somatic mutation [UniProt] No UniProt
CA353702169
rs1162117153
87 V>L No ClinGen
gnomAD
rs1244334822
CA353702194
88 P>L No ClinGen
gnomAD
rs771292552
CA2502269
88 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2502270
rs142484873
89 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1211863735
CA353702227
90 N>I No ClinGen
TOPMed
rs539750746
CA2502271
92 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA2502272
rs371194762
93 Q>L No ClinGen
ESP
ExAC
gnomAD
COSM280824
COSM280825
rs369150999
CA2502273
94 K>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1165172952
CA353702292
95 I>T No ClinGen
gnomAD
rs1171325456
CA353702286
95 I>V No ClinGen
gnomAD
CA2502275
rs771868437
97 V>M Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353702358
rs1294076209
100 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs753700696
CA2502279
104 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1347519802
CA353702449
107 N>H No ClinGen
TOPMed
gnomAD
rs1365430715
CA353702451
107 N>S No ClinGen
TOPMed
rs764881139
CA2502281
109 I>F No ClinGen
ExAC
gnomAD
COSM320149
CA2502283
COSM320148
rs757955810
111 L>F lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA2502282
rs561025059
111 L>W No ClinGen
ExAC
gnomAD
TCGA novel 112 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2502285
rs752079301
113 L>F No ClinGen
ExAC
gnomAD
rs537025827
CA2502284
113 L>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2502286
rs200995645
115 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs202143347
CA2502290
124 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA2502291
rs749566378
125 M>L No ClinGen
ExAC
gnomAD
CA2502292
rs768759202
125 M>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 126 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs982229155
CA79225398
126 E>Q No ClinGen
TOPMed
gnomAD
CA353702762
rs1168349491
129 D>G No ClinGen
TOPMed
rs201357801
CA79225399
129 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TCGA novel 131 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353702789
rs1370363055
131 H>N No ClinGen
gnomAD
rs1250111431
CA353702796
131 H>R No ClinGen
TOPMed
CA353702812
rs1281519905
132 G>A No ClinGen
gnomAD
rs1443135220
CA353702807
132 G>R No ClinGen
gnomAD
CA2502294
rs746962589
134 K>E No ClinGen
ExAC
gnomAD
TCGA novel 134 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1048851
rs770780950
COSM1048852
CA2502295
136 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs776350196
CA353702870
136 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs776350196
CA2502296
136 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs373433238
CA2502297
137 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA79225401
rs577908847
138 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
CA2502299
rs775092793
141 T>I No ClinGen
ExAC
gnomAD
rs1457847145
CA353702960
142 K>T No ClinGen
gnomAD
CA353703008
rs1210304482
146 I>V No ClinGen
TOPMed
CA353703041
rs1230871085
148 A>G No ClinGen
gnomAD
rs1358372150
CA353703033
148 A>T No ClinGen
TOPMed
CA353703051
rs1469427775
149 D>G No ClinGen
gnomAD
CA2502302
rs751094345
150 E>K No ClinGen
ExAC
CA353703108
rs1249441630
154 Q>E No ClinGen
TOPMed
CA2502303
rs757714246
155 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA79225403
rs866821420
156 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA353703168
rs1342457962
158 G>E No ClinGen
TOPMed
rs768163795
CA2502304
160 R>C No ClinGen
ExAC
gnomAD
CA2502305
rs750779844
160 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA353703202
rs1247330677
161 I>V No ClinGen
gnomAD
CA353703243
rs1164159108
164 L>F No ClinGen
gnomAD
TCGA novel 170 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1393773449
CA353703316
170 E>K No ClinGen
gnomAD
CA2502306
rs141287594
173 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353703382
rs1334260867
175 N>D No ClinGen
gnomAD
rs770039696
CA2502308
175 N>K No ClinGen
ExAC
gnomAD
rs755222529
CA2502309
176 K>E No ClinGen
ExAC
gnomAD
CA2502310
rs778986745
177 K>* No ClinGen
ExAC
gnomAD
CA2502312
rs770851201
180 Y>F No ClinGen
ExAC
gnomAD
rs1317973431
CA353703479
181 L>V No ClinGen
gnomAD
rs1270443958
CA353703491
COSM396051
COSM396050
182 A>S lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA353703488
rs1270443958
182 A>T No ClinGen
TOPMed
gnomAD
rs1559602030
CA353703545
187 G>D No ClinGen
Ensembl
CA353703553
rs1187836345
188 A>G No ClinGen
TOPMed
gnomAD
CA353703552
rs1187836345
188 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 192 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769554825
CA2502315
195 V>A No ClinGen
ExAC
gnomAD
rs1378343025
CA353703611
197 V>G No ClinGen
TOPMed
rs1187094132
CA353703606
197 V>I No ClinGen
TOPMed
gnomAD
rs1042248812
CA79225405
200 K>R No ClinGen
TOPMed
CA2502316
rs775318326
201 K>N No ClinGen
ExAC
gnomAD
CA353703657
rs1483221430
204 F>L No ClinGen
TOPMed
COSM94195
CA353703671
rs1276350997
206 V>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
VAR_068853
rs200567888
CA2502319
207 K>N a pancreatic ductal adenocarcinoma sample; somatic mutation [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2502318
rs763655362
207 K>R No ClinGen
ExAC
gnomAD
TCGA novel 210 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761263727
CA2502320
210 A>V No ClinGen
ExAC
TOPMed
gnomAD
COSM1633350
rs1413376820
COSM1633351
CA353703702
211 M>V liver [Cosmic] No ClinGen
cosmic curated
gnomAD
CA353703722
rs1274968589
213 P>L No ClinGen
TOPMed
rs1293200426
CA353703719
213 P>S No ClinGen
gnomAD
CA2502321
rs767180087
215 T>A No ClinGen
ExAC
rs750948534
COSM74528
CA2502322
COSM1425633
215 T>M ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353703737
rs1267843219
216 V>I No ClinGen
TOPMed
gnomAD
CA353703736
rs1267843219
216 V>L No ClinGen
TOPMed
gnomAD
rs1338210929
CA353703741
217 P>S No ClinGen
TOPMed
gnomAD
CA353703743
rs1338210929
217 P>T No ClinGen
TOPMed
gnomAD
rs770106113
CA79225406
218 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA353703749
rs1372738630
218 M>L No ClinGen
TOPMed
rs1576233343
CA353703751
218 M>R No ClinGen
Ensembl
COSM1693044
COSM1693043
CA353703781
rs1282065699
222 S>F skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs766846963
CA2502324
222 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA2502325
rs754158548
224 V>A No ClinGen
ExAC
gnomAD
CA353703788
rs1209963217
224 V>L No ClinGen
gnomAD
rs1576233383
CA353703804
226 V>G No ClinGen
Ensembl
COSM1425636
CA2502326
rs755172206
COSM1425637
226 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA353703812
rs1190951059
CA353703813
228 G>R No ClinGen
gnomAD
rs1475149451
CA353703819
229 S>A No ClinGen
gnomAD
VAR_042126 229 S>Y a lung large cell carcinoma sample; somatic mutation [UniProt] No UniProt
TCGA novel 231 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA79225408
rs1018715666
231 V>I No ClinGen
TOPMed
gnomAD
rs748217146
CA2502328
232 N>D No ClinGen
ExAC
gnomAD
TCGA novel 233 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2502329
rs758441001
233 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353703867
rs1253791217
236 E>* No ClinGen
TOPMed
CA353703865
rs1253791217
236 E>K No ClinGen
TOPMed
COSM109237
CA2502330
rs139652107
237 E>K skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
CA2502332
rs769787086
238 D>E No ClinGen
ExAC
gnomAD
rs370457091
CA2502333
241 R>T No ClinGen
ESP
ExAC
gnomAD
rs995930628
CA79225410
242 M>L No ClinGen
TOPMed
gnomAD
CA353703942
rs1261033710
246 T>I No ClinGen
gnomAD
CA353703947
rs1203269012
247 E>G No ClinGen
gnomAD
CA353703956
rs1553665305
248 G>V No ClinGen
Ensembl
rs773846066
CA2502337
COSM138380
249 E>K Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353703982
rs1229614068
252 V>A No ClinGen
TOPMed
CA353703979
rs1194420863
252 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353703986
rs1396970589
253 P>A No ClinGen
gnomAD
rs761576191
COSM197999
CA2502338
253 P>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA2502340
rs772927622
256 K>E No ClinGen
ExAC
gnomAD
rs1291872386
CA353704007
256 K>T No ClinGen
TOPMed
TCGA novel 263 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs138376716
CA2502341
265 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2502342
rs138974536
267 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754184476
CA353704089
268 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA2502343
rs754184476
268 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs1439645986
CA353704119
271 Q>R No ClinGen
gnomAD
rs374955351
CA2502345
272 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs559831321
CA79236776
272 A>V No ClinGen
Ensembl
rs760135022
CA2502361
274 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA2502362
rs765502894
274 R>Q No ClinGen
ExAC
gnomAD
CA353701514
rs201468736
275 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201468736
CA2502363
275 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2502364
rs201468736
275 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764312912
CA2502365
276 G>A No ClinGen
ExAC
gnomAD
rs896512954
CA79236778
280 A>V No ClinGen
TOPMed
CA2502368
CA2502369
rs781383365
282 D>E No ClinGen
ExAC
gnomAD
CA2502370
rs755010537
COSM584811
COSM584810
283 G>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs200484511
CA2502371
284 N>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747973326
CA2502372
285 M>R No ClinGen
ExAC
gnomAD
rs948106621
CA79236779
286 K>Q No ClinGen
TOPMed
CA2502373
rs758077460
286 K>T No ClinGen
ExAC
gnomAD
CA353701611
rs1259444587
289 K>N No ClinGen
TOPMed
rs1559653607
CA353701609
289 K>R No ClinGen
Ensembl
rs1355784567
CA353701625
291 P>L No ClinGen
gnomAD
CA353701632
rs1559653620
292 P>L No ClinGen
Ensembl
CA353701656
rs1297280508
296 T>S No ClinGen
gnomAD
rs142109561
CA2502374
298 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353701689
rs1416437726
300 G>A No ClinGen
gnomAD
rs1291352437
CA353701718
303 N>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs746697550
CA2502375
305 R>W No ClinGen
ExAC
gnomAD
TCGA novel 307 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148593404
CA2502377
307 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM94196
rs1381512203
CA353701827
311 F>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA353701848
COSM1425655
COSM1425654
rs1486190561
312 R>Q liver large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs746351940
COSM1425652
CA2502378
COSM1425653
312 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353701872
rs1187636039
314 D>E No ClinGen
gnomAD
CA353701863
rs1483175958
314 D>N No ClinGen
TOPMed
gnomAD
CA353701877
rs1420974457
315 K>E No ClinGen
gnomAD
rs1576321571
CA353701898
316 D>A No ClinGen
Ensembl
CA353701908
rs770338205
316 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA353701918
rs1167543166
317 P>H No ClinGen
gnomAD
rs1231064330
CA353701912
317 P>T No ClinGen
gnomAD
rs763328423
CA2502381
319 S>C No ClinGen
ExAC
gnomAD
rs564506073
CA2502382
320 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA353701955
rs1420203186
320 M>V No ClinGen
TOPMed
CA2502386
rs531563474
324 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA353702091
rs1286945505
325 P>A No ClinGen
gnomAD
CA79236827
rs868816181
326 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA353702113
rs1315586801
327 S>T No ClinGen
gnomAD
CA353702133
rs1273217724
328 S>L No ClinGen
gnomAD
CA353702156
COSM1048859
rs1559654048
COSM1048860
330 R>I Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA2502409
rs368542690
336 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353702246
rs1279441414
338 E>Q No ClinGen
TOPMed
CA79236828
rs372301564
342 I>L No ClinGen
ESP
gnomAD
rs1405536132
CA353702302
342 I>T No ClinGen
TOPMed
gnomAD
rs372301564
CA353702296
342 I>V No ClinGen
ESP
gnomAD
rs756802617
CA2502411
344 D>G No ClinGen
ExAC
gnomAD
rs374701071
CA2502412
345 W>R No ClinGen
ESP
ExAC
TOPMed
rs749859409
CA2502413
346 S>I No ClinGen
ExAC
gnomAD
rs755616509
CA2502414
347 W>L No ClinGen
ExAC
gnomAD
CA353702395
rs1330804725
349 L>P No ClinGen
TOPMed
gnomAD
CA79236829
rs933501529
351 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1281583058
CA353702424
351 T>K No ClinGen
gnomAD
CA79236830
rs779599137
354 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA79236831
rs144727411
354 R>Q No ClinGen
ESP
gnomAD
rs779599137
CA2502415
354 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA2502416
rs749793758
355 K>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 356 D>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1195814121
CA353702473
356 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs149937883
CA2502418
357 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353702539
rs1288697097
361 I>L No ClinGen
gnomAD
rs1230921861
CA353702559
362 I>M No ClinGen
gnomAD
rs202046045
CA2502420
362 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs367816678
CA2502419
362 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773454441
CA2502421
364 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1197169173
CA353702603
365 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA353702612
rs1188537096
366 C>R No ClinGen
gnomAD
CA2502422
rs760852634
367 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1420005671
CA353702624
367 G>R No ClinGen
gnomAD
CA2502423
rs771117648
368 W>R No ClinGen
ExAC
gnomAD
rs1317735981
CA353702697
372 Q>E No ClinGen
TOPMed
CA2502424
rs776913752
374 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA79236833
rs371687854
374 E>K No ClinGen
ESP
TOPMed
gnomAD
rs200415022
CA2502425
377 S>N Variant assessed as Somatic; 0.0005543 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 379 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs995238704
CA79236835
381 R>C No ClinGen
TOPMed
gnomAD
COSM198018
CA2502426
rs764139832
381 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2502428
rs761696838
385 R>G No ClinGen
ExAC
gnomAD
CA2502429
rs767254790
385 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1339518966
CA353702903
388 G>V No ClinGen
gnomAD
rs1400852070
CA353702910
389 L>F No ClinGen
TOPMed
CA353702921
rs1215928276
390 T>I No ClinGen
gnomAD
CA353702925
rs1270503537
391 N>S No ClinGen
gnomAD
CA353702948
rs1211409809
393 T>M No ClinGen
gnomAD
CA2502430
rs533112669
393 T>P No ClinGen
1000Genomes
ExAC
gnomAD
CA353702971
rs1234568158
395 T>K No ClinGen
gnomAD
rs1205132450
CA353702970
395 T>P No ClinGen
gnomAD
rs1559654273
CA353703013
398 D>V No ClinGen
Ensembl
CA353703042
rs1367928047
401 A>P No ClinGen
TOPMed
gnomAD
rs1367928047
CA353703044
401 A>S No ClinGen
TOPMed
gnomAD
CA2502433
rs753359922
401 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA2502434
rs755432416
402 H>D No ClinGen
ExAC
rs1169851160
CA353703061
402 H>R No ClinGen
gnomAD
CA2502436
rs748645303
404 N>Y No ClinGen
ExAC
rs1313799818
CA353703130
406 T>I No ClinGen
gnomAD
CA353703162
rs1377674952
408 E>D No ClinGen
gnomAD
COSM296223
COSM296224
CA2502437
rs772463834
412 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1334127938
CA353703239
414 G>V No ClinGen
gnomAD
TCGA novel 415 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353703245
rs1432350325
415 V>M No ClinGen
gnomAD
rs776790513
CA2502441
418 L>R No ClinGen
ExAC
gnomAD
rs1254932287
CA353703301
419 S>G No ClinGen
TOPMed
CA353703309
rs1282140504
419 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA353703334
rs144998277
421 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144998277
CA2502443
421 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2502442
rs759709969
421 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353703336
rs1178604557
422 P>T No ClinGen
gnomAD
CA353703345
rs1195505981
423 R>G No ClinGen
gnomAD
TCGA novel 423 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1013433060
CA79236837
424 Q>E No ClinGen
TOPMed
CA353703376
rs1246269252
425 F>V No ClinGen
gnomAD
CA2502445
COSM1205447
rs530556931
COSM1205448
427 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA2502447
rs750191873
429 S>I No ClinGen
ExAC
gnomAD
CA2502448
rs760263242
430 I>V No ClinGen
ExAC
gnomAD
rs1172488603
CA353703438
431 T>P No ClinGen
gnomAD
CA353703454
rs766046211
COSM731469
432 T>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2502449
rs766046211
432 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA353703483
rs1317883302
434 Q>* No ClinGen
gnomAD
rs754455890
CA353703495
434 Q>H No ClinGen
ExAC
gnomAD
rs571620668
CA79236838
435 A>D No ClinGen
TOPMed
gnomAD
CA2502474
rs751932716
436 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA353661248
rs1267303962
439 P>T No ClinGen
gnomAD
rs757664499
CA2502475
442 T>A No ClinGen
ExAC
gnomAD
rs112239794
CA2502476
442 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353661345
rs1473800664
444 K>M No ClinGen
TOPMed
gnomAD
rs1348993609
COSM1284755
CA353661349
COSM1284754
444 K>N autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA353661344
rs1473800664
444 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA353661387
rs1180627146
446 D>E No ClinGen
gnomAD
rs925530491
CA78491616
447 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs780126700
CA2502479
447 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1457055144
CA353661430
448 T>I No ClinGen
gnomAD
CA2502480
rs372621625
448 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_042127 449 S>F a lung neuroendocrine carcinoma sample; somatic mutation [UniProt] No UniProt
CA353661435
rs1398335242
449 S>Y No ClinGen
gnomAD
CA353661444
rs1201275406
450 R>K No ClinGen
gnomAD
rs747000701
CA2502483
451 N>S No ClinGen
ExAC
gnomAD
rs1392564713
CA353662176
453 I>N No ClinGen
TOPMed
rs1373094456
CA353662236
COSM1425682
COSM1425683
454 S>F large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA353662579
rs1271844607
461 E>D No ClinGen
TOPMed
CA2502487
rs764806570
461 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1475098621
CA353662615
462 H>L No ClinGen
gnomAD
CA2502488
rs775011935
463 P>R No ClinGen
ExAC
gnomAD
CA2502489
rs762400314
464 N>D No ClinGen
ExAC
gnomAD
rs752539520
CA2502490
466 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA353662723
rs1203540302
466 I>N No ClinGen
gnomAD
rs570604469
CA2502492
467 I>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs570604469
CA353662775
467 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2502491
rs752088339
467 I>V No ClinGen
ExAC
gnomAD
CA2502494
rs750832814
468 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA2502496
rs780172142
469 D>G No ClinGen
ExAC
gnomAD
CA353662844
rs1391704321
470 Y>H No ClinGen
gnomAD
rs537923825
CA2502498
471 E>Q No ClinGen
ExAC
gnomAD
rs1375857079
CA353662940
472 V>A No ClinGen
gnomAD
CA2502499
rs370552845
474 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353663035
rs1301060598
476 E>K No ClinGen
TOPMed
gnomAD
TCGA novel 478 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353663376
rs1463190446
479 E>G No ClinGen
gnomAD
CA353663389
rs1409851868
480 Q>R No ClinGen
TOPMed
rs370986773
CA2502528
482 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2502529
rs748888287
483 S>C No ClinGen
ExAC
gnomAD
rs374626393
CA78494191
486 I>V No ClinGen
ESP
TOPMed
gnomAD
CA353663475
rs1259440529
489 A>T No ClinGen
TOPMed
rs771749213
CA2502533
490 R>G No ClinGen
ExAC
gnomAD
CA2502534
rs773835698
491 G>D No ClinGen
ExAC
gnomAD
rs766652795
CA2502536
492 T>A No ClinGen
ExAC
gnomAD
CA353663492
rs766652795
492 T>P No ClinGen
ExAC
gnomAD
rs1438893531
CA353663501
493 N>S No ClinGen
gnomAD
rs1438893531
CA353663500
493 N>T No ClinGen
gnomAD
TCGA novel 495 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777061580
CA2502537
495 T>P No ClinGen
ExAC
rs938686751
CA78494233
496 I>L No ClinGen
TOPMed
gnomAD
CA2502538
rs759615049
497 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs765462880
CA2502539
497 S>N No ClinGen
ExAC
gnomAD
rs144696297
CA2502540
498 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2502541
rs758438939
499 L>F No ClinGen
ExAC
gnomAD
CA2502542
rs764206594
500 K>Q No ClinGen
ExAC
CA2502544
rs75391524
502 D>N No ClinGen
ExAC
gnomAD
rs75391524
CA353663561
502 D>Y No ClinGen
ExAC
gnomAD
rs751929427
CA78494293
503 T>S No ClinGen
Ensembl
rs867131534
CA78494309
504 I>V No ClinGen
TOPMed
gnomAD
CA353663597
rs1245874536
505 Y>H No ClinGen
gnomAD
rs1381500170
CA353663650
508 Q>K No ClinGen
TOPMed
rs1184230536
CA353663678
510 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353663702
rs1472226095
512 R>* No ClinGen
gnomAD
CA2502548
rs778678869
513 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA2502550
rs747853999
514 A>T No ClinGen
ExAC
gnomAD
CA353663753
rs1559681526
517 Y>C No ClinGen
Ensembl
TCGA novel 517 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1362369938
CA353663769
518 G>E No ClinGen
TOPMed
VAR_042128 518 G>L a lung squamous cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions [UniProt] No UniProt
CA2502553
COSM1737266
COSM1737265
rs543425684
519 T>M central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1310386960
CA353663793
520 N>T No ClinGen
gnomAD
rs552884651
CA2502554
521 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA2502555
rs776808297
521 S>R No ClinGen
ExAC
gnomAD
rs759973751
CA2502556
522 R>C No ClinGen
ExAC
gnomAD
rs775665893
CA2502558
522 R>H No ClinGen
ExAC
TOPMed
gnomAD
COSM397779
CA2502557
COSM397778
rs759973751
522 R>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA353663818
rs1226229275
523 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 523 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1288766137
CA353663834
524 F>S No ClinGen
gnomAD
CA2502559
rs150469112
525 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2502560
rs764155355
526 F>S No ClinGen
ExAC
gnomAD
CA2502562
rs755956785
527 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA353663917
rs1188603929
528 T>S No ClinGen
gnomAD
CA353663956
rs1161663372
531 D>N No ClinGen
gnomAD
CA353663965
rs1413432309
532 S>A No ClinGen
TOPMed
gnomAD
CA353665623
rs1233786675
534 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1257548456
CA353665639
535 I>M No ClinGen
gnomAD
CA2502587
rs777508142
536 S>C No ClinGen
ExAC
gnomAD
rs777508142
CA2502588
536 S>F No ClinGen
ExAC
gnomAD
rs756765228
CA2502589
537 G>A No ClinGen
ExAC
gnomAD
CA78499790
rs371787296
537 G>S No ClinGen
ESP
TOPMed
CA353665678
rs1200731184
539 S>G No ClinGen
TOPMed
COSM1048873
CA78499800
rs964408959
539 S>N Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA2502591
rs149643424
541 Q>H No ClinGen
ESP
ExAC
gnomAD
rs780337925
CA2502593
542 V>A No ClinGen
ExAC
gnomAD
rs377041029
CA2502592
542 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2502595
rs768941729
543 V>L No ClinGen
ExAC
gnomAD
TCGA novel 544 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774612991
CA2502596
545 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs774612991
CA353665772
545 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA353665784
rs1221318412
546 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1172547285
CA353665800
547 I>T No ClinGen
gnomAD
CA353665816
rs1386464909
548 S>L No ClinGen
gnomAD
COSM4155081
CA2502598
rs147450955
549 A>V kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2502600
rs371462790
550 A>P No ClinGen
ExAC
rs983187598
CA78499893
551 V>A No ClinGen
TOPMed
gnomAD
CA2502601
rs142865154
552 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353665884
rs1387008905
554 I>V No ClinGen
TOPMed
gnomAD
rs752322107
CA78499904
555 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1356072262
CA353665909
556 L>F No ClinGen
TOPMed
CA2502603
rs752497107
557 T>I No ClinGen
ExAC
gnomAD
rs762801053
CA2502604
558 V>A No ClinGen
ExAC
gnomAD
rs374460085
CA353665970
560 I>F No ClinGen
ESP
TOPMed
gnomAD
CA2502606
rs751208279
560 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs374460085
CA78499938
560 I>V No ClinGen
ESP
TOPMed
gnomAD
CA2502607
rs139544432
561 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353665989
rs1322202080
561 Y>H No ClinGen
gnomAD
CA353666011
rs1210690957
562 V>L No ClinGen
gnomAD
CA2502609
rs536008328
564 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_042129
CA2502608
rs55712516
564 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs756564447
CA2502610
566 R>K No ClinGen
ExAC
gnomAD
rs56077781
CA2502627
568 C>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_042130
rs56077781
CA2502626
568 C>S No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1372209561
CA353666619
569 G>V No ClinGen
gnomAD
CA2502629
rs370678502
570 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1384402151
CA353666670
572 S>T No ClinGen
TOPMed
rs913193328
CA353666698
573 K>I No ClinGen
TOPMed
gnomAD
rs1372684890
CA353666701
573 K>N No ClinGen
gnomAD
rs913193328
CA78500464
573 K>R No ClinGen
TOPMed
gnomAD
CA78500476
rs372943443
575 G>A No ClinGen
ESP
TOPMed
CA78500484
rs745973705
576 A>V No ClinGen
Ensembl
rs1278755088
COSM1048874
CA353666803
578 E>D endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs867835679
CA78500485
578 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA2502631
rs779282250
580 R>I No ClinGen
ExAC
TOPMed
gnomAD
rs748487754
CA2502632
580 R>S No ClinGen
ExAC
gnomAD
CA353666892
rs1351210663
583 F>S No ClinGen
gnomAD
CA2502633
rs758610779
584 G>V No ClinGen
ExAC
gnomAD
CA353666930
rs1203604011
585 N>S No ClinGen
gnomAD
CA2502635
rs778106353
586 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA2502636
rs778106353
586 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA78500523
rs533770865
586 G>R No ClinGen
Ensembl
rs778106353
CA2502634
586 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1183034828
CA353666971
587 H>P No ClinGen
gnomAD
CA2502661
rs771851703
588 L>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2502662
rs772998374
589 K>E No ClinGen
ExAC
gnomAD
rs1450215218
CA353667961
589 K>I No ClinGen
TOPMed
rs567496673
CA2502663
590 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_042131
CA78504003
rs56081642
590 L>P No ClinGen
UniProt
dbSNP
gnomAD
CA353668007
rs1463230067
592 G>C No ClinGen
gnomAD
rs534679111
CA2502664
592 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs776171101
CA2502665
593 L>R No ClinGen
ExAC
gnomAD
rs758942025
CA2502666
594 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1189384773
CA353668039
595 T>I No ClinGen
gnomAD
CA353668045
rs1472882999
596 Y>H No ClinGen
gnomAD
CA2502667
rs61733120
RCV000881117
597 V>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2502669
rs763618226
598 D>G No ClinGen
ExAC
gnomAD
rs753127242
COSM1048876
CA2502668
598 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 599 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353668109
rs1488450493
601 T>A No ClinGen
TOPMed
CA2502671
rs751984150
601 T>I No ClinGen
ExAC
gnomAD
rs1301680905
CA353668157
605 P>L No ClinGen
gnomAD
COSM584782
CA353668154
rs1439127416
605 P>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs577668720
CA2502674
606 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353668168
rs1289635005
606 T>I No ClinGen
gnomAD
CA353668181
rs1339615261
607 Q>H No ClinGen
TOPMed
rs1326510338
CA353668177
607 Q>P No ClinGen
gnomAD
CA78504127
rs776181530
608 A>G No ClinGen
Ensembl
CA78504126
rs17855794
608 A>T No ClinGen
Ensembl
CA2502675
rs756134991
609 V>I No ClinGen
ExAC
gnomAD
rs1323282781
CA353668240
613 A>T No ClinGen
gnomAD
rs772013090
CA2502678
614 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA78504145
rs866025221
615 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs374235660
CA2502680
617 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374235660
CA2502681
COSM584781
617 D>Y lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 618 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759287229
CA2502683
619 T>N No ClinGen
ExAC
gnomAD
rs1414714315
VAR_036088
CA353668334
COSM33004
621 I>L large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
dbSNP
gnomAD
rs545022458
CA2502685
622 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353668373
rs1162005172
624 D>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1468797697
CA353668372
624 D>G No ClinGen
gnomAD
CA353668381
rs1365375680
625 K>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1430916797
CA353668396
626 V>A No ClinGen
gnomAD
CA353668409
rs1310443133
628 G>E No ClinGen
gnomAD
CA2502709
rs767708554
631 E>A No ClinGen
ExAC
CA2502710
rs773640458
631 E>D No ClinGen
ExAC
gnomAD
rs867931903
CA78507376
631 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA353669169
rs1242840680
COSM98892
636 C>F stomach [Cosmic] No ClinGen
cosmic curated
gnomAD
CA78507384
rs375432691
637 S>G No ClinGen
ESP
gnomAD
rs375432691
CA353669174
637 S>R No ClinGen
ESP
gnomAD
CA2502713
rs754102338
639 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2502714
rs570346631
COSM1633353
639 R>H Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
RCV001293546
CA353669192
rs754102338
639 R>S No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs549882703
CA78507386
640 L>V No ClinGen
1000Genomes
CA353669232
rs1553692173
642 L>F No ClinGen
Ensembl
rs146728702
CA2502715
643 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146728702
CA2502716
643 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353669254
rs1576368494
644 S>L No ClinGen
Ensembl
rs1335496435
CA353669259
645 K>T No ClinGen
gnomAD
rs201062946
CA78507389
647 E>D No ClinGen
1000Genomes
TOPMed
gnomAD
rs1467832547 647 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1325678893
CA353669342
649 S>* No ClinGen
gnomAD
COSM198046
rs1559689115
CA353669361
651 A>T large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1276606795
COSM1048878
CA353669380
651 A>V endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1262606547
CA353669398
652 I>M No ClinGen
gnomAD
CA2502721
rs779822883
652 I>V No ClinGen
ExAC
gnomAD
rs1465477687
COSM1538626
CA353669411
653 K>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA2502722
rs748999069
657 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs748999069
CA78507447
657 V>I No ClinGen
ExAC
TOPMed
gnomAD
VAR_065831 660 T>K a lung carcinoma sample; somatic mutation [UniProt] No UniProt
TCGA novel 662 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1446838360
CA545016768
664 R>N No ClinGen
gnomAD
rs1248892878
CA353669664
665 R>I No ClinGen
gnomAD
TCGA novel 666 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774002419
CA2502724
667 F>S No ClinGen
ExAC
gnomAD
rs748606864
CA2502725
668 L>P No ClinGen
ExAC
gnomAD
rs772653743
CA2502726
672 S>G No ClinGen
ExAC
gnomAD
CA353669800
rs1156495695
672 S>R No ClinGen
gnomAD
rs1378861144
CA353669850
675 G>R No ClinGen
gnomAD
CA2502727
rs773406696
678 D>N No ClinGen
ExAC
gnomAD
CA2502728
rs202059523
679 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1343504201
CA353669966
681 N>S No ClinGen
gnomAD
rs1453560937
CA353670043
684 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs372257039
COSM122864
CA2502730
684 R>Q upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs200071736
CA2502731
685 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA353670118
rs1489618254
688 V>I No ClinGen
TOPMed
CA2502733
rs139451236
689 V>A No ClinGen
ESP
ExAC
gnomAD
CA353670177
rs1350231020
691 K>R No ClinGen
TOPMed
gnomAD
CA353656152
rs1460422282
692 S>I No ClinGen
TOPMed
gnomAD
CA353656148
rs1460422282
692 S>N No ClinGen
TOPMed
gnomAD
rs760534439
CA2502759
695 V>L No ClinGen
ExAC
gnomAD
CA353656202
rs1225397244
696 M>T No ClinGen
gnomAD
TCGA novel 697 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 698 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766217704
CA2502760
702 M>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353656281
rs1251195512
702 M>T No ClinGen
gnomAD
TCGA novel 703 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353656301
rs1317503899
703 E>Q No ClinGen
TOPMed
gnomAD
rs1381031176
CA353656313
704 N>D No ClinGen
gnomAD
rs753707496
CA2502761
704 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs754635213
CA2502762
705 G>A No ClinGen
ExAC
gnomAD
CA2502763
rs754635213
705 G>V No ClinGen
ExAC
gnomAD
TCGA novel 706 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754774164
CA78480983
706 S>F No ClinGen
Ensembl
rs1390521043
CA353656364
708 D>G No ClinGen
TOPMed
rs777211567
CA2502766
712 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs575730567
CA2502767
712 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777211567
CA353656413
712 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757725021
CA2502786
713 K>E No ClinGen
ExAC
gnomAD
CA2502787
rs199630398
713 K>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1368854829
CA353656587
714 H>R No ClinGen
gnomAD
rs1280769530
CA353656608
715 D>G No ClinGen
gnomAD
CA2502789
rs568185407
720 V>D No ClinGen
1000Genomes
ExAC
gnomAD
CA2502788
rs200791821
720 V>I No ClinGen
1000Genomes
ExAC
TOPMed
rs200791821
CA353656684
720 V>L No ClinGen
1000Genomes
ExAC
TOPMed
CA2502790
rs375846678
723 L>V No ClinGen
ESP
ExAC
gnomAD
rs1285991622
CA353656745
724 V>A No ClinGen
gnomAD
CA2502791
rs749469241
725 G>A No ClinGen
ExAC
gnomAD
rs749469241
CA353656754
725 G>E No ClinGen
ExAC
gnomAD
CA2502792
rs768782109
726 M>I No ClinGen
ExAC
gnomAD
TCGA novel 726 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353656769
rs1161653294
726 M>V No ClinGen
gnomAD
CA2502793
rs774448099
728 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs748206093
CA2502794
728 R>Q No ClinGen
ExAC
gnomAD
CA353656830
rs1197239588
731 A>S No ClinGen
gnomAD
CA2502795
rs772325232
731 A>V No ClinGen
ExAC
gnomAD
rs1559693939
CA353656855
733 G>C No ClinGen
Ensembl
TCGA novel 733 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA78482271
rs773348056
739 D>E No ClinGen
Ensembl
rs762621864
CA2502800
740 M>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353657025
rs762621864
740 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs763688148
CA2502801
741 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA353657041
rs763688148
741 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA78482289
rs925330811
742 Y>F No ClinGen
TOPMed
gnomAD
rs369276620
CA2502802
745 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2502803
rs756739935
745 R>Q Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs149696182
CA2502804
746 D>A No ClinGen
ESP
ExAC
TOPMed
CA353657140
rs1288096834
746 D>E No ClinGen
TOPMed
rs1383248514
CA353657172
COSM1205449
748 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA2502807
rs780417089
COSM198048
750 R>Q large_intestine endometrium Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749646074
CA2502808
751 N>D No ClinGen
ExAC
gnomAD
rs755409303
CA2502809
754 I>N No ClinGen
ExAC
gnomAD
CA353657402
rs1483346637
757 N>D No ClinGen
TOPMed
gnomAD
CA353657422
rs1316383286
758 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
COSM731462
rs146856660
CA353657440
CA2502811
759 V>L Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2502810
rs146856660
759 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 763 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1161010949
CA353657543
764 D>G No ClinGen
TOPMed
VAR_042132 766 G>E a lung adenocarcinoma sample; somatic mutation [UniProt] No UniProt
rs1366099808
COSM1567106
CA353657594
766 G>V large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA353657629
rs1386233725
768 S>A No ClinGen
gnomAD
CA353657631
rs1446890859
768 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353657627
rs1386233725
768 S>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 771 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353657696
rs1411035734
772 E>Q No ClinGen
TOPMed
gnomAD
CA2502815
rs769645193
773 D>H No ClinGen
ExAC
gnomAD
CA2502816
rs775319034
775 P>T No ClinGen
ExAC
rs34437982
CA353657785
777 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_042133
CA2502817
RCV000910618
rs34437982
777 A>G No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2502818
rs34437982
777 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 778 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2502819
rs773980261
779 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1290414327
CA353657815
780 T>I No ClinGen
TOPMed
rs866959883
CA78495038
784 G>E No ClinGen
Ensembl
CA353660579
rs1195951459
786 I>F No ClinGen
gnomAD
CA353660601
rs1240798724
788 I>V No ClinGen
gnomAD
rs1484689450
CA353660612
789 R>K No ClinGen
TOPMed
gnomAD
CA2502834
rs749306993
792 S>P No ClinGen
ExAC
gnomAD
CA353660707
rs1263058019
797 A>V No ClinGen
TOPMed
CA353660726
rs1203973847
799 R>C No ClinGen
TOPMed
gnomAD
rs1203973847
CA353660725
799 R>G No ClinGen
TOPMed
gnomAD
rs1176464192
CA353660731
799 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2502837
rs73139269
801 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2502836
rs73139269
801 F>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369423490
CA78495067
802 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369423490
CA2502838
802 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM731460
CA2502840
rs760079016
803 S>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 803 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765969815
CA2502841
805 S>N No ClinGen
ExAC
gnomAD
VAR_036089 806 D>N a colorectal cancer sample; somatic mutation [UniProt] No UniProt
rs760090119
CA2502843
806 D>V No ClinGen
ExAC
gnomAD
rs1283969718
CA353660857
810 Y>H No ClinGen
gnomAD
CA353660944
rs753130827
817 V>L No ClinGen
ExAC
gnomAD
rs753130827
CA2502845
817 V>M No ClinGen
ExAC
gnomAD
rs1351681711
CA353660971
818 M>I No ClinGen
gnomAD
rs1438673642
CA353660966
818 M>T No ClinGen
TOPMed
CA353661012
rs1207208621
820 Y>C No ClinGen
gnomAD
rs150609332
CA78495167
820 Y>H No ClinGen
ESP
rs758657242
CA2502846
821 G>R No ClinGen
ExAC
gnomAD
rs370863541
CA2502847
822 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757274748
CA2502849
824 P>S No ClinGen
ExAC
CA78495182
rs374248537
827 E>D No ClinGen
ESP
CA2502851
rs749114470
831 Q>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353661250
rs1198065404
831 Q>R No ClinGen
gnomAD
rs756225530
CA2502873
836 A>T No ClinGen
ExAC
gnomAD
TCGA novel 836 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1293054659
CA353661496
837 V>I No ClinGen
gnomAD
CA353661539
rs1397249221
839 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs556754042
CA353661565
840 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs556754042
CA2502875
840 G>V No ClinGen
1000Genomes
ExAC
gnomAD
rs758183213
CA2502876
842 R>Q No ClinGen
ExAC
gnomAD
rs572288873
CA2502877
845 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs572288873
CA353661667
845 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA353661664
rs572288873
845 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA2502878
rs142030914
846 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353661684
rs1315283374
846 P>R No ClinGen
gnomAD
CA2502880
rs142030914
846 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2502879
rs142030914
846 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 847 M>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745355919
CA2502881
847 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA353661690
rs1315561019
847 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1317589623 847 M>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 849 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1461478295
CA353661794
850 P>L No ClinGen
gnomAD
rs535947136
CA78495945
851 A>T No ClinGen
1000Genomes
gnomAD
rs763624373
CA2502884
852 A>D No ClinGen
ExAC
gnomAD
TCGA novel 853 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1423203141
CA353661861
854 Y>H No ClinGen
gnomAD
rs767812508
CA2502888
857 M>I No ClinGen
ExAC
gnomAD
rs761893191
CA353661927
CA2502887
857 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1389159811
CA353661965
858 L>Q No ClinGen
TOPMed
CA353661987
rs1399907898
859 D>G No ClinGen
TOPMed
gnomAD
TCGA novel 865 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353662255
rs1380975088
868 R>S No ClinGen
gnomAD
rs1424411876
CA353662260
869 P>S No ClinGen
TOPMed
CA353662318
rs1296838201
870 K>R No ClinGen
gnomAD
CA353662433
rs1309775529
873 Q>H No ClinGen
gnomAD
rs1242408900
CA353662453
874 I>T No ClinGen
gnomAD
rs1256842246
CA353662478
876 S>R No ClinGen
gnomAD
CA353662506
rs1323859567
878 L>M No ClinGen
gnomAD
rs766511234
CA2502891
COSM389456
881 L>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1258333739
CA353662661
882 I>V No ClinGen
TOPMed
CA2502892
rs752560194
883 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM272641
rs758342526
CA2502893
883 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752560194
CA78496029
883 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1210916543
CA353662747
884 N>K No ClinGen
TOPMed
CA353662764
rs1426641543
885 P>A No ClinGen
TOPMed
gnomAD
CA353662763
rs1426641543
885 P>S No ClinGen
TOPMed
gnomAD
CA353662760
rs1426641543
885 P>T No ClinGen
TOPMed
gnomAD
rs373736475
CA2502897
886 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373736475
CA353662778
886 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745567462
CA2502898
887 S>I No ClinGen
ExAC
gnomAD
rs559771730
CA2502900
888 L>V No ClinGen
1000Genomes
ExAC
CA2502901
rs749757419
890 I>V No ClinGen
ExAC
gnomAD
rs367573076
CA2502902
891 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1576384940
CA353662963
892 T>P No ClinGen
Ensembl
rs1434347368
CA353663001
894 A>T No ClinGen
TOPMed
CA2502903
rs774540195
894 A>V No ClinGen
ExAC
gnomAD
rs141716319
CA78496168
895 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1029253151
CA78496153
895 A>T No ClinGen
TOPMed
rs141716319
CA2502904
895 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773476878
CA2502906
896 A>P No ClinGen
ExAC
gnomAD
CA78496201
rs773476878
896 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2502907
rs760890688
896 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1427078839
CA353666604
900 N>D No ClinGen
gnomAD
rs1321050276
CA353666629
901 L>I No ClinGen
gnomAD
CA2502929
rs771171216
902 L>F No ClinGen
ExAC
gnomAD
CA353666693
rs776875895
905 Q>E No ClinGen
ExAC
gnomAD
CA2502930
rs776875895
905 Q>K No ClinGen
ExAC
gnomAD
CA2502931
rs759593006
905 Q>P No ClinGen
ExAC
gnomAD
CA2502932
rs759593006
905 Q>R No ClinGen
ExAC
gnomAD
rs73846185
CA2502934
907 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2502935
rs374961385
909 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353666771
rs374961385
909 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750266508
CA2502936
911 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs531837299
CA2502938
COSM1425706
912 T>A large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 912 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs531837299
CA78509005
912 T>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA78509019
rs904397974
913 F>C No ClinGen
TOPMed
CA2502939
rs549868478
914 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_027919
rs17801309
CA2502940
914 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs17801309
CA78509085
914 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs17801309
CA2502941
914 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2502942
rs748629890
COSM380994
915 T>A lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1447002695
CA353666900
915 T>R No ClinGen
gnomAD
COSM402322
rs758848156
CA2502943
916 T>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1312335539
CA353666932
917 G>D No ClinGen
TOPMed
gnomAD
rs1312335539
CA353666940
917 G>V No ClinGen
TOPMed
gnomAD
rs1412450341
CA353666959
918 D>V No ClinGen
gnomAD
rs998163895
CA78509098
919 W>C No ClinGen
TOPMed
rs778067909
CA2502944
919 W>L No ClinGen
ExAC
gnomAD
TCGA novel 919 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1328672204
CA353667028
922 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1410875132
CA353667031
922 G>D No ClinGen
TOPMed
rs150555764
CA2502946
924 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_042134
rs35124509
CA2502945
CA353667067
924 W>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2502947
rs776824087
926 A>S No ClinGen
ExAC
gnomAD
CA78509162
rs767429462
928 C>F No ClinGen
Ensembl
CA353667111
rs1231154967
928 C>S No ClinGen
gnomAD
CA2502948
rs746145854
932 F>L No ClinGen
ExAC
gnomAD
rs372594677
CA2502949
933 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_065832
rs372594677
CA2502950
933 T>M Variant assessed as Somatic; 0.0 impact. a lung carcinoma sample; somatic mutation [NCI-TCGA, UniProt] No ClinGen
UniProt
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs767387399
CA2502952
COSM1693052
934 G>S skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA2502954
rs760525872
935 V>A No ClinGen
ExAC
gnomAD
rs1275174664
CA353667205
935 V>M No ClinGen
TOPMed
gnomAD
rs961598471
CA78509191
936 E>G No ClinGen
TOPMed
CA78509189
rs369167718
936 E>K No ClinGen
ESP
TOPMed
gnomAD
CA2502957
rs754599782
938 S>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1237470958
CA353667252
939 S>Y No ClinGen
gnomAD
rs764752292
CA2502958
943 I>V No ClinGen
ExAC
gnomAD
CA2502959
rs752176493
946 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA2502960
rs752176493
946 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA2502962
rs747575749
947 S>A No ClinGen
ExAC
gnomAD
CA2502963
rs192800580
947 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1553697265
CA353667396
949 D>Y No ClinGen
Ensembl
rs1471077698
CA353668772
950 D>E No ClinGen
gnomAD
TCGA novel 950 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1156599993
CA353668800
952 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353668805
rs1379670186
952 K>I No ClinGen
gnomAD
rs1379670186
CA353668807
952 K>R No ClinGen
gnomAD
CA2502997
rs776665976
954 V>F No ClinGen
ExAC
gnomAD
CA2502999
rs769685099
954 V>G No ClinGen
ExAC
gnomAD
CA2502998
rs776665976
954 V>I No ClinGen
ExAC
gnomAD
CA353668849
rs1464031640
955 G>V No ClinGen
TOPMed
CA78513465
rs1038500327
956 V>I No ClinGen
TOPMed
rs762601076
CA353668872
958 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs762601076
COSM1318640
CA2503001
958 V>M Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353668883
rs1336569315
959 V>F No ClinGen
gnomAD
rs763540505
CA2503003
962 Q>R No ClinGen
ExAC
gnomAD
CA2503006
rs762268874
968 S>N No ClinGen
ExAC
gnomAD
CA2503007
rs767981365
969 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs750990530
CA2503008
970 K>N No ClinGen
ExAC
gnomAD
rs756422951
CA2503009
971 A>T No ClinGen
ExAC
gnomAD
rs1250867520
CA353669026
972 L>V No ClinGen
gnomAD
rs780470195
CA2503010
974 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353669058
rs1237297238
975 Q>* No ClinGen
TOPMed
gnomAD
CA353669059
rs1237297238
975 Q>K No ClinGen
TOPMed
gnomAD
rs755942381
CA2503012
975 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs779095614
CA2503013
979 G>S No ClinGen
ExAC
gnomAD
CA2503014
rs748204014
980 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA353669097
rs1456511809
980 P>L No ClinGen
gnomAD
CA353669108
rs1449229684
982 P>H No ClinGen
gnomAD
CA2503015
rs147992008
982 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1453994370
CA353669113
983 V>G No ClinGen
gnomAD
CA353669109
rs536144760
983 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM198058
rs536144760
CA2503018
983 V>M lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD

1 associated diseases with P29320

[MIM: 114500]: Colorectal cancer (CRC)

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:12738854}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Without disease ID
  • A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:12738854}. Note=The gene represented in this entry may be involved in disease pathogenesis.

3 regional properties for P29320

Type Name Position InterPro Accession
domain C2 domain 406 - 539 IPR000008
domain Phosphatidylinositol-specific phospholipase C, X domain 106 - 250 IPR000909
domain Phospholipase C, phosphatidylinositol-specific, Y domain 295 - 412 IPR001711

Functions

Description
EC Number 2.7.10.1 Protein-tyrosine kinases
Subcellular Localization
  • [Isoform 1]: Cell membrane ; Single-pass type I membrane protein
  • ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
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.
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.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ephrin receptor activity Combining with an ephrin receptor ligand to initiate a change in cell activity.
GPI-linked ephrin receptor activity Combining with a GPI-anchored ephrin to initiate a change in cell activity.
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.
transmembrane-ephrin receptor activity Combining with a transmembrane ephrin to initiate a change in cell activity.

18 GO annotations of biological process

Name Definition
axon guidance The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cellular response to retinoic acid 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 a retinoic acid stimulus.
ephrin receptor signaling pathway The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
fasciculation of motor neuron axon The collection of motor neuron axons into a bundle of rods, known as a fascicle.
fasciculation of sensory neuron axon The collection of sensory neuron axons into a bundle of rods, known as a fascicle.
negative regulation of endocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis.
peptidyl-tyrosine phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
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 neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of protein localization to plasma membrane Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane.
regulation of actin cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of epithelial to mesenchymal transition Any process that modulates the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
regulation of focal adhesion assembly Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions.
regulation of GTPase activity Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of microtubule cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
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.

49 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P28693 EPHB2 Ephrin type-B receptor 2 Gallus gallus (Chicken) PR
Q07496 EPHA4 Ephrin type-A receptor 4 Gallus gallus (Chicken) SS
Q07494 EPHB1 Ephrin type-B receptor 1 Gallus gallus (Chicken) SS
Q07497 EPHB5 Ephrin type-B receptor 5 Gallus gallus (Chicken) PR
O42422 EPHA7 Ephrin type-A receptor 7 Gallus gallus (Chicken) SS
P54755 EPHA5 Ephrin type-A receptor 5 Gallus gallus (Chicken) SS
Q07498 EPHB3 Ephrin type-B receptor 3 Gallus gallus (Chicken) SS
P29318 EPHA3 Ephrin type-A receptor 3 Gallus gallus (Chicken) SS
P0C0K6 EPHB6 Ephrin type-B receptor 6 Pan troglodytes (Chimpanzee) SS
P21709 EPHA1 Ephrin type-A receptor 1 Homo sapiens (Human) SS
P54760 EPHB4 Ephrin type-B receptor 4 Homo sapiens (Human) SS
P29317 EPHA2 Ephrin type-A receptor 2 Homo sapiens (Human) SS
Q15375 EPHA7 Ephrin type-A receptor 7 Homo sapiens (Human) SS
P54756 EPHA5 Ephrin type-A receptor 5 Homo sapiens (Human) SS
Q9UF33 EPHA6 Ephrin type-A receptor 6 Homo sapiens (Human) SS
P54762 EPHB1 Ephrin type-B receptor 1 Homo sapiens (Human) SS
P29322 EPHA8 Ephrin type-A receptor 8 Homo sapiens (Human) SS
P54764 EPHA4 Ephrin type-A receptor 4 Homo sapiens (Human) SS
P54753 EPHB3 Ephrin type-B receptor 3 Homo sapiens (Human) SS
Q5JZY3 EPHA10 Ephrin type-A receptor 10 Homo sapiens (Human) SS
O15197 EPHB6 Ephrin type-B receptor 6 Homo sapiens (Human) SS
P29323 EPHB2 Ephrin type-B receptor 2 Homo sapiens (Human) EV
P54754 Ephb3 Ephrin type-B receptor 3 Mus musculus (Mouse) SS
Q03145 Epha2 Ephrin type-A receptor 2 Mus musculus (Mouse) PR
Q03137 Epha4 Ephrin type-A receptor 4 Mus musculus (Mouse) SS
Q61772 Epha7 Ephrin type-A receptor 7 Mus musculus (Mouse) SS
O09127 Epha8 Ephrin type-A receptor 8 Mus musculus (Mouse) SS
Q8CBF3 Ephb1 Ephrin type-B receptor 1 Mus musculus (Mouse) SS
Q8BYG9 Epha10 Ephrin type-A receptor 10 Mus musculus (Mouse) SS
Q60629 Epha5 Ephrin type-A receptor 5 Mus musculus (Mouse) SS
Q62413 Epha6 Ephrin type-A receptor 6 Mus musculus (Mouse) SS
Q60750 Epha1 Ephrin type-A receptor 1 Mus musculus (Mouse) SS
P54763 Ephb2 Ephrin type-B receptor 2 Mus musculus (Mouse) SS
P54761 Ephb4 Ephrin type-B receptor 4 Mus musculus (Mouse) PR
O08644 Ephb6 Ephrin type-B receptor 6 Mus musculus (Mouse) PR
P29319 Epha3 Ephrin type-A receptor 3 Mus musculus (Mouse) SS
P54757 Epha5 Ephrin type-A receptor 5 Rattus norvegicus (Rat) SS
P54759 Epha7 Ephrin type-A receptor 7 Rattus norvegicus (Rat) SS
P09759 Ephb1 Ephrin type-B receptor 1 Rattus norvegicus (Rat) SS
P0C0K7 Ephb6 Ephrin type-B receptor 6 Rattus norvegicus (Rat) SS
O08680 Epha3 Ephrin type-A receptor 3 Rattus norvegicus (Rat) SS
O61460 vab-1 Ephrin receptor 1 Caenorhabditis elegans 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
Q9FXF2 RKF1 Probable LRR receptor-like serine/threonine-protein kinase RFK1 Arabidopsis thaliana (Mouse-ear cress) PR
O13147 ephb3 Ephrin type-B receptor 3 Danio rerio (Zebrafish) (Brachydanio rerio) SS
O73878 ephb4b Ephrin type-B receptor 4b Danio rerio (Zebrafish) (Brachydanio rerio) SS
O13146 epha3 Ephrin type-A receptor 3 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MDCQLSILLL LSCSVLDSFG ELIPQPSNEV NLLDSKTIQG ELGWISYPSH GWEEISGVDE
70 80 90 100 110 120
HYTPIRTYQV CNVMDHSQNN WLRTNWVPRN SAQKIYVELK FTLRDCNSIP LVLGTCKETF
130 140 150 160 170 180
NLYYMESDDD HGVKFREHQF TKIDTIAADE SFTQMDLGDR ILKLNTEIRE VGPVNKKGFY
190 200 210 220 230 240
LAFQDVGACV ALVSVRVYFK KCPFTVKNLA MFPDTVPMDS QSLVEVRGSC VNNSKEEDPP
250 260 270 280 290 300
RMYCSTEGEW LVPIGKCSCN AGYEERGFMC QACRPGFYKA LDGNMKCAKC PPHSSTQEDG
310 320 330 340 350 360
SMNCRCENNY FRADKDPPSM ACTRPPSSPR NVISNINETS VILDWSWPLD TGGRKDVTFN
370 380 390 400 410 420
IICKKCGWNI KQCEPCSPNV RFLPRQFGLT NTTVTVTDLL AHTNYTFEID AVNGVSELSS
430 440 450 460 470 480
PPRQFAAVSI TTNQAAPSPV LTIKKDRTSR NSISLSWQEP EHPNGIILDY EVKYYEKQEQ
490 500 510 520 530 540
ETSYTILRAR GTNVTISSLK PDTIYVFQIR ARTAAGYGTN SRKFEFETSP DSFSISGESS
550 560 570 580 590 600
QVVMIAISAA VAIILLTVVI YVLIGRFCGY KSKHGADEKR LHFGNGHLKL PGLRTYVDPH
610 620 630 640 650 660
TYEDPTQAVH EFAKELDATN ISIDKVVGAG EFGEVCSGRL KLPSKKEISV AIKTLKVGYT
670 680 690 700 710 720
EKQRRDFLGE ASIMGQFDHP NIIRLEGVVT KSKPVMIVTE YMENGSLDSF LRKHDAQFTV
730 740 750 760 770 780
IQLVGMLRGI ASGMKYLSDM GYVHRDLAAR NILINSNLVC KVSDFGLSRV LEDDPEAAYT
790 800 810 820 830 840
TRGGKIPIRW TSPEAIAYRK FTSASDVWSY GIVLWEVMSY GERPYWEMSN QDVIKAVDEG
850 860 870 880 890 900
YRLPPPMDCP AALYQLMLDC WQKDRNNRPK FEQIVSILDK LIRNPGSLKI ITSAAARPSN
910 920 930 940 950 960
LLLDQSNVDI TTFRTTGDWL NGVWTAHCKE IFTGVEYSSC DTIAKISTDD MKKVGVTVVG
970 980
PQKKIISSIK ALETQSKNGP VPV