Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q6U841

Entry ID Method Resolution Chain Position Source
AF-Q6U841-F1 Predicted AlphaFoldDB

655 variants for Q6U841

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1289717040
CA349210694
2 E>K No ClinGen
gnomAD
TCGA novel 3 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA59593294
rs1051775487
3 I>V No ClinGen
TOPMed
gnomAD
CA1931065
rs370756267
6 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA59593296
rs771437643
9 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1573940971
CA349210755
10 M>R No ClinGen
Ensembl
rs1230555417
CA349210767
12 P>T No ClinGen
TOPMed
gnomAD
rs1196591132
CA349210794
16 T>M No ClinGen
Ensembl
TCGA novel 17 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA59694707
rs749652105
18 N>H No ClinGen
Ensembl
CA349216321
rs1559212321
19 D>Y No ClinGen
Ensembl
rs1235280305
CA349216387
23 V>A No ClinGen
TOPMed
rs756214742
CA1931097
26 R>I No ClinGen
ExAC
gnomAD
rs1196223525
CA349216443
27 G>D No ClinGen
gnomAD
rs1574880678
CA349216470
29 T>N No ClinGen
Ensembl
CA349216478
rs1261502891
30 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs764362891
CA1931098
30 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA349216497
rs1368523271
32 I>V No ClinGen
gnomAD
rs914673973
CA59694747
34 K>Q No ClinGen
TOPMed
CA349216517
rs1161093935
35 T>A No ClinGen
gnomAD
rs1574880880
CA349216520
35 T>K No ClinGen
Ensembl
CA349216525
rs1364498206
36 H>R No ClinGen
gnomAD
rs1400244361
CA349216544
38 E>D No ClinGen
TOPMed
gnomAD
rs760278871
CA349216551
39 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs754019335
CA1931099
39 K>R No ClinGen
ExAC
gnomAD
CA1931121
rs758894714
46 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM1008275
rs780653423
CA1931122
COSM1590797
46 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA59718234
rs567151480
51 G>A No ClinGen
Ensembl
rs908530845
CA59718251
55 P>T No ClinGen
Ensembl
TCGA novel 56 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349216142
rs1424392466
57 G>E No ClinGen
TOPMed
rs1575047304
CA349216139
57 G>R No ClinGen
Ensembl
rs1026519712
CA59718261
59 R>G No ClinGen
TOPMed
CA59718265
rs759673660
59 R>I No ClinGen
TOPMed
rs770073010
CA349216167
61 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs770073010
CA1931127
61 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs372550007
CA1931129
63 R>Q No ClinGen
ESP
ExAC
gnomAD
CA1931130
rs770723696
64 R>C No ClinGen
ExAC
gnomAD
CA59718301
rs1038439527
64 R>H No ClinGen
TOPMed
gnomAD
rs774276605
CA349216194
65 H>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 65 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 67 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349216210
rs1372967649
68 R>C No ClinGen
TOPMed
gnomAD
COSM1008277
CA1931132
COSM1153502
rs759420527
68 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs544770669
CA1931133
70 H>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 71 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775884037
CA59718319
72 H>R No ClinGen
Ensembl
rs776546911
CA1931134
73 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 73 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 77 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931136
rs762784608
79 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1303812995
CA349216301
79 R>K No ClinGen
gnomAD
CA349216338
rs1310853653
82 G>R No ClinGen
gnomAD
CA349216377
rs1259341628
84 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA349216370
rs1227805051
84 E>G No ClinGen
TOPMed
rs1365933953
CA349216379
85 D>N No ClinGen
TOPMed
rs766687720
CA349216420
88 E>* No ClinGen
ExAC
gnomAD
rs766687720
CA1931139
88 E>Q No ClinGen
ExAC
gnomAD
rs1480081907
CA349216433
89 S>A No ClinGen
gnomAD
CA349216431
rs1480081907
89 S>P No ClinGen
gnomAD
CA349216429
rs1480081907
89 S>T No ClinGen
gnomAD
rs1479368740
CA349216449
90 P>L No ClinGen
gnomAD
CA349216444
rs1426977623
90 P>T No ClinGen
gnomAD
rs752056848
CA1931140
91 S>Y No ClinGen
ExAC
gnomAD
CA349218858
rs753216065
93 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA1931162
rs753216065
93 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA59738115
rs556172929
94 T>I No ClinGen
TOPMed
gnomAD
CA349218864
rs556172929
94 T>N No ClinGen
TOPMed
gnomAD
rs770849707
CA59738136
96 S>A No ClinGen
Ensembl
CA59738139
rs1056251804
98 R>K No ClinGen
Ensembl
CA349218891
rs1489178338
99 V>I No ClinGen
gnomAD
TCGA novel 103 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs267598940
CA59738160
104 G>E No ClinGen
Ensembl
TCGA novel 105 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM263726
rs756835311
CA1931166
106 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA349218937
rs756835311
106 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1931167
rs778663790
107 D>Y No ClinGen
ExAC
gnomAD
rs1183624083
CA349218953
108 D>Y No ClinGen
gnomAD
rs1559366385
CA349218969
110 E>A No ClinGen
Ensembl
CA1931169
rs758229636
110 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs780074330
CA1931170
111 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1399384677
CA349218983
112 H>Y No ClinGen
gnomAD
rs929159822
CA59738224
113 I>F No ClinGen
TOPMed
RCV000517001
CA349218990
rs929159822
113 I>V No ClinGen
ClinVar
TOPMed
dbSNP
rs1192069505
CA349218997
114 P>S No ClinGen
gnomAD
rs769949115
CA1931172
115 H>R No ClinGen
ExAC
gnomAD
CA1931171
rs746977573
115 H>Y No ClinGen
ExAC
gnomAD
CA59738232
rs368047320
116 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1450848104
CA349219007
116 D>N No ClinGen
gnomAD
CA1931175
rs771054985
122 D>G No ClinGen
ExAC
gnomAD
CA1931176
rs774693047
123 E>K No ClinGen
ExAC
gnomAD
CA1931177
rs372570626
125 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA349219071
rs372570626
125 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA349219080
rs1203096401
126 W>L No ClinGen
gnomAD
CA1931178
rs201440727
COSM84639
127 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA1931179
rs201440727
127 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761191332
CA1931180
128 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA59738375
rs372141989
132 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372141989
CA349219117
132 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372141989
CA1931183
132 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs926875340
CA59738382
133 E>G No ClinGen
TOPMed
CA349219138
rs899870875
135 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
COSM3748712
CA349219141
COSM3748711
rs1382333814
COSM385342
135 R>Q lung stomach [Cosmic] No ClinGen
cosmic curated
gnomAD
rs76923622
CA59748572
141 L>F No ClinGen
Ensembl
rs200684832
CA59748577
144 E>* No ClinGen
Ensembl
TCGA novel 151 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931200
rs777176613
152 E>D No ClinGen
ExAC
gnomAD
rs1253123554
CA349219286
154 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs764837556
CA349219337
161 T>I No ClinGen
ExAC
gnomAD
rs764837556
CA1931202
161 T>N No ClinGen
ExAC
gnomAD
CA349219350
rs1197648540
163 S>L No ClinGen
gnomAD
CA349219443
rs1301577652
176 N>S No ClinGen
TOPMed
CA1931206
rs751395564
177 G>* No ClinGen
ExAC
gnomAD
rs1190258769
CA349219450
177 G>A No ClinGen
Ensembl
rs754880370
CA1931207
178 T>S No ClinGen
ExAC
gnomAD
TCGA novel 181 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs954295335
CA59748624
181 L>R No ClinGen
Ensembl
rs1301022818
CA349219483
183 M>V No ClinGen
gnomAD
CA349219499
rs1344686373
185 A>T No ClinGen
gnomAD
COSM1008285
COSM1590794
rs537192317
CA1931209
186 N>S Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs757242243
CA1931210
187 T>N No ClinGen
ExAC
gnomAD
rs1175522702
CA349219539
190 E>D No ClinGen
TOPMed
rs1575300576
CA349219532
190 E>K No ClinGen
Ensembl
CA1931212
rs745983686
192 A>E No ClinGen
ExAC
gnomAD
rs779072501
CA1931211
192 A>T No ClinGen
ExAC
gnomAD
CA349219552
rs1361807499
193 D>Y No ClinGen
gnomAD
TCGA novel 194 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 195 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931226
rs547965934
199 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 201 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752528225
CA1931227
202 S>L No ClinGen
ExAC
gnomAD
rs1445996896
CA349219709
203 G>D No ClinGen
gnomAD
CA349219703
rs1243199230
203 G>S No ClinGen
gnomAD
CA349219737
rs1457584367
206 N>S No ClinGen
TOPMed
COSM1528611
CA1931228
COSM1528612
rs756056078
210 R>C lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA59753082
rs754718619
210 R>H No ClinGen
TOPMed
gnomAD
rs763974777
CA1931229
211 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA349219806
rs1160967516
212 R>T No ClinGen
gnomAD
rs758528961
CA1931231
214 H>Q No ClinGen
ExAC
gnomAD
rs750507463
CA1931230
214 H>R No ClinGen
ExAC
gnomAD
rs1158699240
CA349219823
214 H>Y No ClinGen
gnomAD
CA1931232
rs780189691
215 E>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 215 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931233
rs747266395
216 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA59753117
CA349219851
rs868716862
218 M>I No ClinGen
Ensembl
rs755289229
CA1931234
218 M>K No ClinGen
ExAC
gnomAD
CA1931235
rs781602212
220 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs925077721
CA59753120
220 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA349219898
rs1265693143
222 H>Q No ClinGen
TOPMed
rs1223068536
CA349219902
223 H>N No ClinGen
TOPMed
CA1931237
rs770330131
225 N>S No ClinGen
ExAC
gnomAD
CA349219949
rs1305273398
226 Q>H No ClinGen
gnomAD
CA1931238
rs373648693
227 K>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377627238
CA1931239
228 K>N No ClinGen
ESP
ExAC
gnomAD
CA1931240
rs770571506
229 L>F No ClinGen
ExAC
gnomAD
TCGA novel 229 L>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 232 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349220024
rs1460376560
234 P>A No ClinGen
gnomAD
rs1575340706
CA349220030
234 P>R No ClinGen
Ensembl
CA349220022
rs1460376560
234 P>T No ClinGen
gnomAD
CA349220033
rs1575340733
235 I>L No ClinGen
Ensembl
CA349220045
rs1201172230
236 V>F No ClinGen
gnomAD
CA349220060
rs1219783826
237 R>H No ClinGen
TOPMed
rs1219783826
CA349220063
237 R>L No ClinGen
TOPMed
TCGA novel 240 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349220098
rs1342999545
241 D>Y No ClinGen
TOPMed
rs1299615928
CA349220116
242 I>N No ClinGen
TOPMed
CA59753173
rs867008585
243 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA349220198
rs759282717
249 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs759282717
CA1931242
249 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA349220569
rs1178622733
250 N>H No ClinGen
gnomAD
CA349220586
rs1248129326
252 M>V No ClinGen
TOPMed
gnomAD
CA349220593
rs1399636004
253 D>N No ClinGen
TOPMed
CA349220601
rs1559411656
254 K>Q No ClinGen
Ensembl
TCGA novel 255 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349220615
rs1414105895
255 N>K No ClinGen
gnomAD
rs1480113881
CA348976883
258 Q>H No ClinGen
gnomAD
CA1931259
rs773976374
260 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs550963888
CA1931258
260 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA1931261
rs745409738
261 S>F No ClinGen
ExAC
gnomAD
rs745409738
CA1931260
261 S>Y No ClinGen
ExAC
gnomAD
CA1931262
rs775059170
262 P>S No ClinGen
ExAC
gnomAD
TCGA novel 265 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931263
rs535560207
266 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1411794285
CA348976932
267 A>G No ClinGen
gnomAD
TCGA novel 267 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931264
rs763798251
268 C>R No ClinGen
ExAC
gnomAD
rs1425561778
CA348976975
273 N>S No ClinGen
gnomAD
CA1931266
rs761718725
274 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs776505084
CA1931265
274 D>G No ClinGen
ExAC
gnomAD
rs1305300252
CA348976979
274 D>N No ClinGen
gnomAD
rs1305300252
CA348976981
274 D>Y No ClinGen
gnomAD
rs765203158
CA1931267
279 N>H No ClinGen
ExAC
gnomAD
rs1166704487
CA348977017
279 N>S No ClinGen
TOPMed
rs1239250106
CA348977022
280 S>C No ClinGen
gnomAD
CA348977024
rs1215755332
280 S>N No ClinGen
gnomAD
rs1215755332
CA348977025
280 S>T No ClinGen
gnomAD
rs1270301042
CA348977031
281 T>A No ClinGen
gnomAD
CA1931269
rs759670652
283 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs751637683
CA59583757
283 D>G No ClinGen
ExAC
gnomAD
rs751637683
CA1931268
283 D>V No ClinGen
ExAC
gnomAD
CA1931270
rs767720568
285 S>G No ClinGen
ExAC
gnomAD
CA348977057
rs1221650821
285 S>N No ClinGen
gnomAD
rs759594062
CA1931287
287 G>A No ClinGen
ExAC
gnomAD
rs759594062
CA348977083
287 G>V No ClinGen
ExAC
gnomAD
CA1931288
rs371563853
288 L>P No ClinGen
ESP
ExAC
gnomAD
CA348977087
rs371563853
288 L>Q No ClinGen
ESP
ExAC
gnomAD
CA1931290
rs760783234
290 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs181577709
CA1931292
292 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348977111
rs181577709
292 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348977120
rs1279892391
293 K>N No ClinGen
gnomAD
rs1352642908
CA348977125
294 G>E No ClinGen
gnomAD
CA348977131
rs1283386085
295 H>P No ClinGen
gnomAD
CA1931293
rs754250799
296 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA348977139
rs754250799
296 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA348977140
rs754250799
296 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1205587768
CA348977141
297 S>G No ClinGen
gnomAD
CA1931294
rs757750211
297 S>N No ClinGen
ExAC
gnomAD
rs979881588
CA59584865
299 C>R No ClinGen
TOPMed
gnomAD
rs1234950167
CA348977160
299 C>W No ClinGen
gnomAD
rs1332160021
CA348977194
304 R>K No ClinGen
gnomAD
CA348977209
rs1315350331
306 E>A No ClinGen
TOPMed
rs867899383
CA59584878
306 E>K No ClinGen
Ensembl
rs145064806
CA1931296
308 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348977232
rs1352439192
309 P>L No ClinGen
TOPMed
CA1931297
rs757883905
310 P>T No ClinGen
ExAC
gnomAD
CA1931298
rs779412073
311 H>Y No ClinGen
ExAC
gnomAD
CA1931299
rs746573378
312 Q>L No ClinGen
ExAC
gnomAD
CA348977260
rs1412871926
314 E>K No ClinGen
TOPMed
rs768193405
CA1931300
316 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA348977298
rs1268725961
317 V>A No ClinGen
TOPMed
gnomAD
CA348977299
rs1268725961
317 V>G No ClinGen
TOPMed
gnomAD
TCGA novel 317 V>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348977355
rs1359446726
325 I>V No ClinGen
TOPMed
rs1575417532
RCV000997247
CA348977370
327 P>L No ClinGen
ClinVar
Ensembl
dbSNP
rs536638756
CA1931323
330 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs749146051
CA1931324
331 A>S No ClinGen
ExAC
gnomAD
CA1931326
rs774405059
332 S>T No ClinGen
ExAC
gnomAD
rs768858140
CA1931328
334 I>V No ClinGen
ExAC
gnomAD
TCGA novel 335 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348977435
rs1363162131
338 E>K No ClinGen
TOPMed
CA348977444
rs776950452
339 L>V No ClinGen
ExAC
gnomAD
rs762145468
CA1931330
340 E>G No ClinGen
ExAC
gnomAD
rs552228145
CA1931331
341 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA348977465
rs1162187328
342 L>S No ClinGen
TOPMed
CA1931334
rs763437005
344 R>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1400422
CA1931333
COSM1400423
rs763437005
344 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201945239
CA1931336
348 A>E No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA1931335
rs201945239
COSM3961358
COSM3961357
COSM3961356
348 A>G lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
gnomAD
CA348977501
rs201945239
COSM1226419
COSM1226418
348 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
gnomAD
CA348977538
rs1265256059
354 P>S No ClinGen
gnomAD
CA59588233
rs887353064
355 A>G No ClinGen
TOPMed
COSM1148339
COSM717255
rs534723058
COSM1647036
CA1931338
356 V>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA348977557
rs755730225
CA1931340
COSM370027
357 L>F lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1575417972
CA348977571
359 Q>H No ClinGen
Ensembl
TCGA novel 360 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1553605433
CA348977597
RCV000518674
364 V>I No ClinGen
ClinVar
Ensembl
dbSNP
rs369816610
CA1931342
366 I>V No ClinGen
ESP
ExAC
gnomAD
CA59588262
rs1039822470
368 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 368 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1170572814
CA348977648
370 F>V No ClinGen
TOPMed
rs778788467
CA1931362
371 L>F No ClinGen
ExAC
gnomAD
TCGA novel 371 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348977663
rs1431509828
372 F>Y No ClinGen
TOPMed
rs1374330321
CA348977672
373 I>T No ClinGen
gnomAD
CA59589822
rs867004542
376 G>E No ClinGen
Ensembl
CA1931364
rs562389348
377 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs748183998
CA1931366
381 G>D No ClinGen
ExAC
gnomAD
TCGA novel 383 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 384 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348977759
rs1325144049
386 E>D No ClinGen
gnomAD
CA1931368
rs777818237
391 I>T No ClinGen
ExAC
gnomAD
rs770494661
CA1931367
391 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1480765679
CA348977798
393 T>A No ClinGen
gnomAD
rs996785470
CA59589861
396 T>S No ClinGen
Ensembl
rs61750845
CA1931381
403 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA348977890
rs1320143669
404 A>G No ClinGen
gnomAD
TCGA novel 404 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758283497
CA1931382
404 A>T No ClinGen
ExAC
gnomAD
TCGA novel 404 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM3390067
COSM1157820
CA1931383
rs558073659
COSM268458
410 R>C Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs911712300
CA59595706
410 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA348977938
rs1443852265
411 N>S No ClinGen
TOPMed
rs61748241
COSM717252
CA1931387
COSM1647033
COSM1148342
413 L>F lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348977960
rs1467335624
414 V>A No ClinGen
gnomAD
rs1000114957
CA59595734
417 I>M No ClinGen
Ensembl
CA1931389
rs779161996
417 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA348977999
rs1362110628
420 F>S No ClinGen
gnomAD
CA1931391
rs370972333
421 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775931599
CA1931392
423 Q>R No ClinGen
ExAC
gnomAD
CA348978034
rs1450453852
426 V>L No ClinGen
TOPMed
rs1293712408
CA348978049
428 P>L No ClinGen
gnomAD
rs769090948
CA1931395
432 W>* No ClinGen
ExAC
gnomAD
rs1242764753
CA348978112
437 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 440 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 442 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776173488
CA1931396
446 S>P No ClinGen
ExAC
gnomAD
CA348978373
rs1430603894
449 K>N No ClinGen
TOPMed
gnomAD
CA348978402
rs1461922305
452 I>F No ClinGen
gnomAD
rs1276917826
CA348978412
453 P>T No ClinGen
TOPMed
gnomAD
rs1201165419
CA348978427
454 A>S No ClinGen
TOPMed
rs1201165419
CA348978423
454 A>T No ClinGen
TOPMed
rs769200448
CA1931418
454 A>V No ClinGen
ExAC
gnomAD
CA1931419
rs777019496
456 P>R No ClinGen
ExAC
gnomAD
rs185463710
CA1931420
458 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs575260520
CA1931421
459 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1156277746
CA348978506
459 T>I No ClinGen
gnomAD
rs545573563
CA1931422
460 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs545573563
CA348978518
460 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs545573563
CA348978517
460 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348978530
rs1469984993
461 A>V No ClinGen
gnomAD
CA59599196
rs868666111
462 H>N No ClinGen
Ensembl
rs1342960553
CA348978539
462 H>R No ClinGen
gnomAD
CA59599202
COSM3837164
rs267598941
COSM3837165
COSM3837163
464 E>K breast Variant assessed as Somatic; 5.479e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA1931423
rs762676328
465 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs575906578
CA1931425
468 H>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA348978624
rs759310135
468 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs755119585
CA1931427
469 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA348978662
rs1324443116
470 G>E No ClinGen
gnomAD
rs1224694586
CA348978704
472 S>R No ClinGen
TOPMed
rs1205614100
CA348978735
474 P>L No ClinGen
TOPMed
gnomAD
rs757317128
CA1931429
474 P>S No ClinGen
ExAC
gnomAD
TCGA novel 474 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM207519
COSM1590788
rs866130595
CA59599276
478 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA348979186
rs1302663372
483 F>L No ClinGen
TOPMed
rs1466683340
TCGA novel
CA348979194
485 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
CA348979201
rs1326549571
486 L>V No ClinGen
gnomAD
rs969330890
CA59601430
487 I>T No ClinGen
TOPMed
rs751763132
CA1931455
491 K>R No ClinGen
ExAC
gnomAD
TCGA novel 492 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755321628
CA1931456
494 A>S No ClinGen
ExAC
gnomAD
rs755321628
CA348979255
494 A>T No ClinGen
ExAC
gnomAD
COSM717250
COSM1148344
CA1931457
COSM1647031
rs781388732
498 W>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA348979291
rs1439205908
499 S>G No ClinGen
TOPMed
TCGA novel 500 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1148345
rs1198476375
COSM717249
CA348979340
COSM1647030
502 R>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA348979376
rs1472866885
505 F>L No ClinGen
gnomAD
rs1361069977
CA348979533
517 Y>C No ClinGen
TOPMed
gnomAD
CA348979551
rs370855511
518 C>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1282104575
CA348979555
519 A>T No ClinGen
TOPMed
CA1931462
rs201661706
519 A>V No ClinGen
ExAC
gnomAD
rs1018694709
CA59601492
521 M>V No ClinGen
TOPMed
TCGA novel 522 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931466
rs775116534
524 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs556027373
CA1931467
525 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA348979659
rs1313617772
526 T>M No ClinGen
gnomAD
TCGA novel 526 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 529 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1483301442
CA348979713
531 L>Q No ClinGen
gnomAD
CA1931471
rs766392662
534 A>E No ClinGen
ExAC
gnomAD
rs1207023538
CA348979749
534 A>T No ClinGen
gnomAD
CA59601581
rs751709773
538 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1931473
rs759649791
538 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1931472
rs751709773
538 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA1931484
rs199634510
RCV000713341
546 F>V No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA1931485
rs768472091
549 S>F No ClinGen
ExAC
gnomAD
rs1475256454
CA348980164
553 I>V No ClinGen
Ensembl
CA1931488
rs769810857
554 A>T No ClinGen
ExAC
gnomAD
rs1295149066
CA348980182
554 A>V No ClinGen
gnomAD
rs1002777223
CA59602150
559 G>A No ClinGen
TOPMed
gnomAD
CA348980254
rs1364108320
560 G>R No ClinGen
gnomAD
rs1559502936
CA348980293
563 L>F No ClinGen
Ensembl
CA1931489
rs774293851
571 P>Q No ClinGen
ExAC
gnomAD
CA1931490
rs759723964
572 V>I No ClinGen
ExAC
gnomAD
COSM1590786
CA348980463
rs534495211
COSM1008300
577 K>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
gnomAD
TCGA novel 583 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348980661
rs1396843663
587 G>E No ClinGen
TOPMed
CA1931511
rs775804216
587 G>R No ClinGen
ExAC
gnomAD
rs777130386
CA1931514
597 I>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 604 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 605 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931518
rs757799595
606 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA348980845
rs1346008260
607 I>T No ClinGen
gnomAD
CA348980880
rs1276956226
613 A>T No ClinGen
gnomAD
rs1442274736
CA348980898
COSM145945
COSM1317072
615 S>C haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1382525548
CA348980924
619 Y>C No ClinGen
gnomAD
CA348980921
rs1254655168
619 Y>H No ClinGen
gnomAD
CA59602937
rs370148354
622 R>W No ClinGen
ESP
gnomAD
rs572184720
CA1931521
634 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348981176
rs1422612562
640 A>G No ClinGen
gnomAD
CA1931525
rs777534270
649 E>D No ClinGen
ExAC
gnomAD
CA59603016
rs891892148
650 A>T No ClinGen
Ensembl
rs749267898
CA1931526
650 A>V No ClinGen
ExAC
gnomAD
rs766098551
CA1931528
653 I>V No ClinGen
ExAC
gnomAD
rs747149436
CA1931530
655 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA348981441
rs1277163349
655 M>R No ClinGen
gnomAD
CA1931529
rs747149436
655 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1340688247
CA348981451
656 H>N No ClinGen
gnomAD
CA348981463
rs1330413161
656 H>Q No ClinGen
TOPMed
CA348981458
rs1575573169
656 H>R No ClinGen
Ensembl
CA1931531
rs777005850
658 D>N No ClinGen
ExAC
gnomAD
TCGA novel 660 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931533
rs61732696
661 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763486116
CA1931535
666 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs773500702
CA1931534
666 S>P No ClinGen
ExAC
gnomAD
CA1931556
rs371135427
668 N>D No ClinGen
ESP
ExAC
gnomAD
CA348978411
rs1386707191
669 C>Y No ClinGen
gnomAD
rs374697376
CA1931557
672 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1931559
rs752195039
673 H>R No ClinGen
ExAC
gnomAD
CA1931560
rs199725063
675 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1931561
rs371522013
676 S>N No ClinGen
ESP
ExAC
gnomAD
CA348978505
rs1208796708
677 N>I No ClinGen
gnomAD
rs1484671365
CA348978515
678 G>D No ClinGen
gnomAD
CA348978531
rs1204367305
679 T>I No ClinGen
gnomAD
CA1931563
rs757130894
681 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs941456216
CA59603907
682 E>A No ClinGen
TOPMed
CA1931564
rs376393572
682 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750415816
CA1931565
685 E>A No ClinGen
ExAC
gnomAD
CA1931566
rs755059131
687 N>S No ClinGen
ExAC
gnomAD
CA348978663
rs1303810068
688 I>N No ClinGen
gnomAD
rs781303491
CA1931567
688 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 692 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931568
rs367992718
693 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367992718
CA348978741
693 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA59603959
rs900050569
694 I>S No ClinGen
TOPMed
TCGA novel 695 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 697 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348978852
rs1458349611
698 L>P No ClinGen
TOPMed
rs1228514450
CA348978879
699 T>I No ClinGen
gnomAD
rs1435419738
CA348978905
701 S>L No ClinGen
TOPMed
gnomAD
CA1931590
rs369971543
706 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1931591
rs779213440
708 G>A No ClinGen
ExAC
gnomAD
TCGA novel 708 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931594
rs199675055
709 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA1931592
rs555576128
709 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1931595
rs746460208
710 Y>H No ClinGen
ExAC
gnomAD
rs768080951
CA348979443
711 V>F No ClinGen
ExAC
gnomAD
rs768080951
CA1931596
711 V>I No ClinGen
ExAC
gnomAD
CA59606799
rs148092998
713 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs148092998
CA1931599
713 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1931598
rs567598753
713 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs762856959
CA1931601
717 H>R No ClinGen
ExAC
gnomAD
rs1452768741
CA348979517
717 H>Y No ClinGen
gnomAD
rs1432170017
CA348979540
718 D>E No ClinGen
TOPMed
gnomAD
CA1931602
rs766275453
718 D>H No ClinGen
ExAC
gnomAD
rs751485004
CA1931603
719 H>Q No ClinGen
ExAC
gnomAD
rs1169042017
CA348979548
719 H>Y No ClinGen
gnomAD
COSM1400429
CA348979563
rs1164720538
COSM1400428
720 P>S large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1416549696
CA348979572
721 Y>H No ClinGen
TOPMed
rs760763613
CA1931604
722 V>I No ClinGen
ExAC
gnomAD
CA59606820
rs1040079256
726 L>Q No ClinGen
Ensembl
TCGA novel 729 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753956303
CA1931606
731 I>F No ClinGen
ExAC
gnomAD
CA1931607
rs753956303
731 I>V No ClinGen
ExAC
gnomAD
CA1931609
rs779162070
733 F>I No ClinGen
ExAC
gnomAD
CA1931608
rs779162070
733 F>L No ClinGen
ExAC
gnomAD
TCGA novel 737 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1264251736
CA348979773
737 V>I No ClinGen
TOPMed
rs758693082
CA1931610
738 T>A No ClinGen
ExAC
gnomAD
TCGA novel 740 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348979854
rs1306818511
742 T>S No ClinGen
gnomAD
COSM2150957
COSM2150956
rs770016661
COSM2150958
CA59606877
746 F>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
Ensembl
rs780100872
CA1931614
748 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs545143437
CA1931617
749 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA1931616
rs545143437
749 S>T No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 750 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348979993
rs1248874380
750 R>T No ClinGen
gnomAD
rs747597084
CA1931632
756 V>I No ClinGen
ExAC
gnomAD
CA1931633
rs769463278
757 R>Q No ClinGen
ExAC
gnomAD
rs777520871
CA1931634
759 I>T No ClinGen
ExAC
gnomAD
rs1006192017
CA59607740
759 I>V No ClinGen
gnomAD
rs1416319749
CA348981273
760 V>M No ClinGen
gnomAD
CA348981395
rs1559606347
766 F>C No ClinGen
Ensembl
rs1163548812
CA348981416
768 T>A No ClinGen
TOPMed
gnomAD
CA1931635
rs748874179
771 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA348981479
rs1336754143
772 M>I No ClinGen
TOPMed
CA348981468
rs1238896846
772 M>V No ClinGen
TOPMed
CA1931637
rs770661028
775 I>L No ClinGen
ExAC
gnomAD
CA1931636
rs770661028
775 I>V No ClinGen
ExAC
gnomAD
rs771937357
CA348981575
779 I>F No ClinGen
ExAC
gnomAD
rs997634997
CA59607791
779 I>M No ClinGen
Ensembl
rs1559606606
CA348981579
779 I>T No ClinGen
Ensembl
rs771937357
CA1931639
779 I>V No ClinGen
ExAC
gnomAD
CA1931640
rs775408136
780 G>E No ClinGen
ExAC
rs267598943
CA59607795
782 P>T No ClinGen
Ensembl
CA1931643
rs201351567
RCV000516937
790 S>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA59607802
rs967086666
791 V>L No ClinGen
TOPMed
TCGA novel 792 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348981695
rs1237003487
795 T>P No ClinGen
gnomAD
rs1278572698
CA348981708
797 D>H No ClinGen
gnomAD
rs371575939
CA59608687
799 R>H No ClinGen
ESP
gnomAD
CA1931661
rs75945400
802 F>V No ClinGen
ExAC
gnomAD
rs1038017615
CA348981760
804 T>K No ClinGen
TOPMed
gnomAD
rs1038017615
CA59608694
804 T>M No ClinGen
TOPMed
gnomAD
CA348981757
rs1575806401
804 T>S No ClinGen
Ensembl
CA348981783
rs1231992823
808 P>S No ClinGen
gnomAD
CA348981812
rs1575806580
812 W>G No ClinGen
Ensembl
rs1575806620
CA348981828
814 V>G No ClinGen
Ensembl
rs955265697
CA59608703
814 V>I No ClinGen
TOPMed
gnomAD
rs763108576
CA1931665
816 A>V No ClinGen
ExAC
gnomAD
rs1434028625
CA348981870
821 A>T No ClinGen
gnomAD
rs774666561
CA1931667
823 L>P No ClinGen
ExAC
gnomAD
TCGA novel 823 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 829 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs932651402
CA59608723
837 V>D No ClinGen
TOPMed
rs759933033
CA1931668
837 V>L No ClinGen
ExAC
gnomAD
rs1174744776
CA348981982
838 I>V No ClinGen
TOPMed
rs1301711506
CA348982005
841 R>K No ClinGen
TOPMed
gnomAD
TCGA novel 843 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 844 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs988094537
CA59608729
845 K>R No ClinGen
Ensembl
TCGA novel 857 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1234504928
CA348982480
858 M>V No ClinGen
TOPMed
rs758094896
CA1931680
861 V>L No ClinGen
ExAC
gnomAD
TCGA novel
CA348982511
rs1227259523
862 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
CA348982505
rs1575837159
862 M>L No ClinGen
Ensembl
CA348982520
rs1334988200
864 G>S No ClinGen
gnomAD
CA348982526
rs1234577392
865 V>I No ClinGen
gnomAD
CA348982527
rs1234577392
865 V>L No ClinGen
gnomAD
rs1575837348
CA348982541
867 S>P No ClinGen
Ensembl
rs1575837386
CA348982546
868 I>L No ClinGen
Ensembl
rs1205528954
CA348982551
868 I>M No ClinGen
gnomAD
rs369582743
CA59612380
868 I>T No ClinGen
ESP
rs1263514300
CA348982560
869 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1290869648
CA348982552
869 M>L No ClinGen
TOPMed
CA348982557
rs1575837483
869 M>R No ClinGen
Ensembl
rs1575837528
CA348982566
870 G>A No ClinGen
Ensembl
rs1445215746
CA348982584
873 W>* No ClinGen
gnomAD
rs768523562
CA1931683
877 A>G No ClinGen
ExAC
gnomAD
CA348982607
rs1192467142
877 A>T No ClinGen
gnomAD
CA1931684
rs781194498
878 T>P No ClinGen
ExAC
gnomAD
rs749289079
CA1931685
883 T>S No ClinGen
ExAC
gnomAD
CA348982676
rs1397490731
883 T>S No ClinGen
TOPMed
rs921995823
CA59612412
892 S>T No ClinGen
gnomAD
CA348982834
rs1383166604
894 C>R No ClinGen
gnomAD
CA348982867
rs1335514018
895 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA59612428
rs988040254
896 A>S No ClinGen
Ensembl
rs1475522275
CA348982894
897 P>L No ClinGen
TOPMed
rs543195068
CA1931691
902 K>Q No ClinGen
1000Genomes
ExAC
CA1931693
rs531982750
905 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs761176181
CA1931694
907 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 913 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 913 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1043263245
CA59612466
914 L>I No ClinGen
gnomAD
TCGA novel 919 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931697
rs758040108
921 G>S No ClinGen
ExAC
gnomAD
rs1559627732
CA348983939
938 L>R No ClinGen
Ensembl
rs1042287656
CA59613337
939 Y>C No ClinGen
Ensembl
rs1559627796
CA348983971
941 V>M No ClinGen
Ensembl
TCGA novel 943 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348984006
rs1232276631
944 Y>F No ClinGen
TOPMed
rs762348408
CA1931711
945 M>I No ClinGen
ExAC
gnomAD
CA348984030
rs1300027189
946 G>S No ClinGen
gnomAD
rs1370425233
CA348984046
947 A>V No ClinGen
TOPMed
rs1446564035
CA348984052
948 S>P No ClinGen
gnomAD
TCGA novel 950 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372522554
CA1931723
956 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1283303387
CA348984319
958 R>K No ClinGen
TOPMed
CA348984326
rs1453021414
CA348984324
959 I>L No ClinGen
gnomAD
rs1215184645
CA348984329
959 I>T No ClinGen
TOPMed
rs1193367978
CA348984334
960 K>T No ClinGen
gnomAD
rs1420884778
CA348984346
962 F>L No ClinGen
TOPMed
gnomAD
rs1430760379
CA348984360
963 W>C No ClinGen
gnomAD
TCGA novel 964 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348984380
rs1464645799
966 A>E No ClinGen
gnomAD
rs141608873
CA1931725
966 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs990035795
CA59616660
971 D>G No ClinGen
TOPMed
rs763081846
CA59616664
973 I>V No ClinGen
Ensembl
TCGA novel 974 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931727
rs747209025
974 Y>H No ClinGen
ExAC
rs376606282
CA59616668
977 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA348984525
rs1438490047
978 V>I No ClinGen
gnomAD
CA348984547
rs1324919673
979 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1931730
rs748518515
981 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1931731
rs770277093
982 K>E No ClinGen
ExAC
gnomAD
CA348984574
rs1420314237
984 H>P No ClinGen
TOPMed
rs1420314237
CA348984575
984 H>R No ClinGen
TOPMed
rs762401842
CA1931733
987 T>S No ClinGen
ExAC
gnomAD
TCGA novel 990 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1931735
rs773893991
994 L>F No ClinGen
ExAC
gnomAD
CA1931736
rs759225760
995 G>S No ClinGen
ExAC
gnomAD
CA1931738
rs767136316
999 I>L No ClinGen
ExAC
gnomAD
rs1367646507
CA348984679
999 I>T No ClinGen
TOPMed
rs767136316
CA1931737
999 I>V No ClinGen
ExAC
gnomAD
CA348984710
rs1425214729
1004 R>G No ClinGen
TOPMed
CA348984716
rs1575880923
1004 R>S No ClinGen
Ensembl
TCGA novel 1005 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1487137813
CA348984730
1007 I>V No ClinGen
gnomAD
rs764080216
CA1931740
1011 M>I No ClinGen
ExAC
gnomAD
CA348984813
rs1375759363
1015 A>T No ClinGen
gnomAD
rs1349241951
CA348985029
1026 L>* No ClinGen
gnomAD
rs778147754 1026 L>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1213730217
CA348985062
1028 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA348985089
rs1208782347
1030 R>Q No ClinGen
gnomAD
rs781426592
CA1931765
1030 R>W No ClinGen
ExAC
gnomAD
rs1233137183
CA348985109
1031 E>D No ClinGen
gnomAD
CA348985208
rs1470932753
1037 D>Y No ClinGen
gnomAD
rs756370402
CA1931767
1039 M>T No ClinGen
ExAC
CA348985246
rs1452909370
1039 M>V No ClinGen
gnomAD
rs1254693801
COSM1590875
COSM1008320
CA348985288
1041 E>K Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1373530788
CA348985385
1044 K>I No ClinGen
gnomAD
CA59617328
rs768286292
1047 L>M No ClinGen
Ensembl
rs1329575832
CA348985534
1053 E>K No ClinGen
gnomAD
CA348986114
rs1419729826
1054 E>G No ClinGen
TOPMed
rs12991239
CA59621586
1055 E>* No ClinGen
Ensembl
CA1931787
RCV000518166
rs142943771
1056 Q>E No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs779430605
CA1931788
1056 Q>R No ClinGen
ExAC
gnomAD
CA348986142
rs1193887507
1057 S>R No ClinGen
gnomAD
rs1474491390
CA348986157
1058 M>V No ClinGen
gnomAD
CA1931790
rs539417260
1059 L>Q No ClinGen
ExAC
gnomAD
rs1233292118
CA348986186
1060 A>D No ClinGen
TOPMed
gnomAD
CA348986181
rs1463159646
1060 A>S No ClinGen
TOPMed
gnomAD
rs1463159646
CA348986178
1060 A>T No ClinGen
TOPMed
gnomAD
RCV000518753
rs779428686
CA1931791
1061 M>I No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA348986189
rs1477639207
1061 M>V No ClinGen
gnomAD
CA1931792
rs574637617
1062 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs199904335
CA59621602
1064 E>D No ClinGen
Ensembl
rs368433654
CA1931793
1064 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1931794
rs776429077
1065 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs769688923
CA1931796
1068 Q>L No ClinGen
ExAC
gnomAD
CA348986276
rs1355709918
1069 L>I No ClinGen
gnomAD
rs773098267
CA1931797
1070 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TCGA novel 1070 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1308315817
CA348986350
1075 Y>C No ClinGen
TOPMed
rs201485344
CA1931800
1075 Y>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348986360
rs182913811
1076 R>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1931801
rs182913811
1076 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764141107
CA348986410
1077 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs764141107
CA1931820
1077 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA348986426
rs1184443597
1078 D>E No ClinGen
gnomAD
rs776736280
CA1931821
1080 S>P No ClinGen
ExAC
gnomAD
CA1931822
rs762021266
1081 V>A No ClinGen
ExAC
gnomAD
rs1377767755
CA348986545
1087 E>V No ClinGen
gnomAD
CA1931823
rs765555878
1088 M>I No ClinGen
ExAC
gnomAD
CA348986552
rs1575967475
1088 M>L No ClinGen
Ensembl
rs375704779
CA1931824
1089 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA348986603
rs1391546956
1091 T>N No ClinGen
gnomAD
rs752130013
CA59622672
1092 A>D No ClinGen
gnomAD
rs766757048
CA1931826
1092 A>T No ClinGen
ExAC
TOPMed
gnomAD
COSM1008322
CA348986623
rs1239128781
COSM1153505
1093 L>S endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
CA1931828
rs755581680
1094 W>* No ClinGen
ExAC
gnomAD
rs1559672560
CA348986630
1094 W>R No ClinGen
Ensembl
rs945358446
CA59622697
1095 R>G No ClinGen
gnomAD
CA348986693
rs747717169
1096 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs780845109
CA1931829
1096 N>S No ClinGen
ExAC
gnomAD
CA1931831
rs763424422
1097 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA348986712
rs1236558772
1098 L>V No ClinGen
gnomAD
rs1457632780
CA348986733
1100 T>P No ClinGen
gnomAD
CA348986740
rs1575968065
1100 T>S No ClinGen
Ensembl
CA1931832
rs777483594
1101 A>D No ClinGen
ExAC
gnomAD
TCGA novel 1101 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348986760
COSM3391037
COSM3391039
COSM3391038
rs1393751149
1102 D>N pancreas skin [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1376645949
CA348986801
1105 K>E No ClinGen
gnomAD
CA1931835
rs774176000
1105 K>R No ClinGen
ExAC
gnomAD
COSM126270
CA348986822
rs1299573953
1106 D>N upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1397631787
CA348986843
1107 K>E No ClinGen
gnomAD
rs745777704
CA1931837
1107 K>M No ClinGen
ExAC
gnomAD
rs745777704
CA1931836
1107 K>R No ClinGen
ExAC
gnomAD
CA1931838
rs776681349
1108 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA348986896
rs1384937691
1110 S>G No ClinGen
gnomAD
CA59622762
rs1051999705
1110 S>N No ClinGen
TOPMed
CA348986917
rs1300497563
1111 F>L No ClinGen
gnomAD
rs376785780
CA59622767
1113 S>Y No ClinGen
Ensembl
COSM717238
rs1308079048
COSM1647097
COSM1148356
CA348987150
1116 S>F lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1276352355
CA537103025
1119 S>Y No ClinGen
TOPMed
gnomAD

No associated diseases with Q6U841

8 regional properties for Q6U841

Type Name Position InterPro Accession
repeat WD40 repeat 436 - 517 IPR001680-1
repeat WD40 repeat 561 - 603 IPR001680-2
repeat WD40 repeat 606 - 644 IPR001680-3
repeat WD40 repeat 647 - 686 IPR001680-4
repeat WD40 repeat 690 - 729 IPR001680-5
repeat WD40 repeat 741 - 784 IPR001680-6
domain BOP1, N-terminal domain 171 - 436 IPR012953
conserved_site WD40 repeat, conserved site 462 - 476 IPR019775

Functions

Description
EC Number
Subcellular Localization
  • Basolateral cell membrane ; Multi-pass membrane protein
  • Apical cell membrane ; Multi-pass membrane protein
  • Cell projection, dendrite
  • Cell projection, axon
  • Perikaryon
  • Presynapse
  • Postsynapse
  • Detected in dendrites and axon terminals of retinal OFF bipolar cells and in axon terminals of ON bipolar cells
  • In amacrine cells, located in the perikaryon
  • Also detected in basal and apical dendrites of hippocampal pyramidal cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

15 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
apical dendrite A dendrite that emerges near the apical pole of a neuron. In bipolar neurons, apical dendrites are located on the opposite side of the soma from the axon.
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
axon terminus Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it.
basal dendrite A dendrite that emerges near the basal pole of a neuron. In bipolar neurons, basal dendrites are either on the same side of the soma as the axon, or project toward the axon.
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.
CA3 pyramidal cell dendrite A dendrite of a hippocampal CA3 pyramidal cell.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
integral component of membrane The component of a 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.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
perikaryon The portion of the cell soma (neuronal cell body) that excludes the nucleus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynapse The part of a synapse that is part of the post-synaptic cell.
somatodendritic compartment The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

3 GO annotations of molecular function

Name Definition
sodium:bicarbonate symporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + HCO3-(out) = Na+(in) + HCO3-(in).
solute:inorganic anion antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion(out) + solute(in) = inorganic anion (in) + solute(out).
transmembrane transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

14 GO annotations of biological process

Name Definition
bicarbonate transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
brain morphogenesis The process in which the anatomical structures of the brain are generated and organized. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
chloride transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
ion homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell.
locomotory exploration behavior The specific movement from place to place of an organism in response to a novel environment.
multicellular organism growth The increase in size or mass of an entire multicellular organism, as opposed to cell growth.
post-embryonic development The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development.
proton transmembrane transport The directed movement of a proton across a membrane.
pyramidal neuron development The progression of a pyramidal neuron from its initial formation to its mature state.
regulation of intracellular pH Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion.
regulation of short-term neuronal synaptic plasticity A process that modulates short-term neuronal synaptic plasticity, the ability of neuronal synapses to change in the short-term as circumstances require. Short-term neuronal synaptic plasticity generally involves increasing or decreasing synaptic sensitivity.
response to light stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light.
transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.
visual perception The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

24 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9GL77 SLC4A4 Electrogenic sodium bicarbonate cotransporter 1 Bos taurus (Bovine) PR
Q32LP4 SLC4A10 Sodium-driven chloride bicarbonate exchanger Bos taurus (Bovine) PR
Q8NBS3 SLC4A11 Solute carrier family 4 member 11 Homo sapiens (Human) PR
Q9Y6R1 SLC4A4 Electrogenic sodium bicarbonate cotransporter 1 Homo sapiens (Human) PR
Q9Y6M7 SLC4A7 Sodium bicarbonate cotransporter 3 Homo sapiens (Human) PR
Q2Y0W8 SLC4A8 Electroneutral sodium bicarbonate exchanger 1 Homo sapiens (Human) PR
P02730 SLC4A1 Band 3 anion transport protein Homo sapiens (Human) PR
P04920 SLC4A2 Anion exchange protein 2 Homo sapiens (Human) PR
P04919 Slc4a1 Band 3 anion transport protein Mus musculus (Mouse) PR
Q8JZR6 Slc4a8 Electroneutral sodium bicarbonate exchanger 1 Mus musculus (Mouse) PR
Q8BTY2 Slc4a7 Sodium bicarbonate cotransporter 3 Mus musculus (Mouse) PR
P13808 Slc4a2 Anion exchange protein 2 Mus musculus (Mouse) PR
A2AJN7 Slc4a11 Solute carrier family 4 member 11 Mus musculus (Mouse) PR
P16283 Slc4a3 Anion exchange protein 3 Mus musculus (Mouse) PR
O88343 Slc4a4 Electrogenic sodium bicarbonate cotransporter 1 Mus musculus (Mouse) PR
Q5DTL9 Slc4a10 Sodium-driven chloride bicarbonate exchanger Mus musculus (Mouse) PR
Q4U116 SLC4A4 Electrogenic sodium bicarbonate cotransporter 1 Sus scrofa (Pig) PR
Q9JI66 Slc4a4 Electrogenic sodium bicarbonate cotransporter 1 Rattus norvegicus (Rat) PR
Q9R1N3 Slc4a7 Sodium bicarbonate cotransporter 3 Rattus norvegicus (Rat) PR
Q80ZA5 Slc4a10 Sodium-driven chloride bicarbonate exchanger Rattus norvegicus (Rat) PR
Q3E954 BOR6 Probable boron transporter 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q9M1P7 BOR2 Probable boron transporter 2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SUU1 BOR7 Probable boron transporter 7 Arabidopsis thaliana (Mouse-ear cress) PR
Q8VYR7 BOR1 Boron transporter 1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MEIKDQGAQM EPLLPTRNDE EAVVDRGGTR SILKTHFEKE DLEGHRTLFI GVHVPLGGRK
70 80 90 100 110 120
SHRRHRHRGH KHRKRDRERD SGLEDGRESP SFDTPSQRVQ FILGTEDDDE EHIPHDLFTE
130 140 150 160 170 180
LDEICWREGE DAEWRETARW LKFEEDVEDG GERWSKPYVA TLSLHSLFEL RSCILNGTVL
190 200 210 220 230 240
LDMHANTLEE IADMVLDQQV SSGQLNEDVR HRVHEALMKQ HHHQNQKKLT NRIPIVRSFA
250 260 270 280 290 300
DIGKKQSEPN SMDKNAGQVV SPQSAPACVE NKNDVSRENS TVDFSKGLGG QQKGHTSPCG
310 320 330 340 350 360
MKQRHEKGPP HQQEREVDLH FMKKIPPGAE ASNILVGELE FLDRTVVAFV RLSPAVLLQG
370 380 390 400 410 420
LAEVPIPTRF LFILLGPLGK GQQYHEIGRS IATLMTDEVF HDVAYKAKDR NDLVSGIDEF
430 440 450 460 470 480
LDQVTVLPPG EWDPSIRIEP PKNVPSQEKR KIPAVPNGTA AHGEAEPHGG HSGPELQRTG
490 500 510 520 530 540
RIFGGLILDI KRKAPYFWSD FRDAFSLQCL ASFLFLYCAC MSPVITFGGL LGEATEGRIS
550 560 570 580 590 600
AIESLFGASM TGIAYSLFGG QPLTILGSTG PVLVFEKILF KFCKEYGLSY LSLRASIGLW
610 620 630 640 650 660
TATLCIILVA TDASSLVCYI TRFTEEAFAS LICIIFIYEA LEKLFELSEA YPINMHNDLE
670 680 690 700 710 720
LLTQYSCNCV EPHNPSNGTL KEWRESNISA SDIIWENLTV SECKSLHGEY VGRACGHDHP
730 740 750 760 770 780
YVPDVLFWSV ILFFSTVTLS ATLKQFKTSR YFPTKVRSIV SDFAVFLTIL CMVLIDYAIG
790 800 810 820 830 840
IPSPKLQVPS VFKPTRDDRG WFVTPLGPNP WWTVIAAIIP ALLCTILIFM DQQITAVIIN
850 860 870 880 890 900
RKEHKLKKGC GYHLDLLMVA VMLGVCSIMG LPWFVAATVL SITHVNSLKL ESECSAPGEQ
910 920 930 940 950 960
PKFLGIREQR VTGLMIFILM GSSVFMTSIL KFIPMPVLYG VFLYMGASSL KGIQFFDRIK
970 980 990 1000 1010 1020
LFWMPAKHQP DFIYLRHVPL RKVHLFTIIQ MSCLGLLWII KVSRAAIVFP MMVLALVFVR
1030 1040 1050 1060 1070 1080
KLMDLLFTKR ELSWLDDLMP ESKKKKLEDA EKEEEQSMLA MEDEGTVQLP LEGHYRDDPS
1090 1100 1110
VINISDEMSK TALWRNLLIT ADNSKDKESS FPSKSSPS