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

14 structures for Q14152

Entry ID Method Resolution Chain Position Source
3J8B EM - A 1-494 PDB
3J8C EM - A 1-494 PDB
6YBD EM 330 A u 1-1382 PDB
6YBT EM 600 A u 33-1382 PDB
6ZMW EM 370 A u 1-1382 PDB
6ZON EM 300 A A 1-601 PDB
6ZP4 EM 290 A A 1-1382 PDB
6ZVJ EM 380 A A 4-725 PDB
7A09 EM 350 A A 1-1382 PDB
7QP6 EM 470 A u 1-1382 PDB
7QP7 EM 370 A u 1-1382 PDB
8OZ0 EM 350 A A 1-1382 PDB
8PPL EM 265 A Iu 1-1382 PDB
AF-Q14152-F1 Predicted AlphaFoldDB

923 variants for Q14152

Variant ID(s) Position Change Description Diseaes Association Provenance
CA214173655
rs868376985
3 A>T No ClinGen
gnomAD
rs758355282
CA5713944
3 A>V No ClinGen
ExAC
gnomAD
rs1310674203
CA378290612
8 P>S No ClinGen
TOPMed
gnomAD
rs1310674203
CA378290613
8 P>T No ClinGen
TOPMed
gnomAD
CA378290508
rs1312170235
14 R>H No ClinGen
gnomAD
CA214173600
rs879136390
15 A>V No ClinGen
Ensembl
CA214173599
rs953799485
17 E>Q No ClinGen
TOPMed
TCGA novel 18 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378288098
rs1203836596
19 L>I No ClinGen
gnomAD
rs867685192
CA214165964
22 G>D No ClinGen
Ensembl
CA214165959
rs905376695
24 K>Q No ClinGen
Ensembl
TCGA novel 25 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378287963
rs1456760727
30 V>I No ClinGen
TOPMed
TCGA novel 31 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751940205
CA5713914
32 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA378287947
rs751940205
32 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA5713913
rs764414930
38 K>R No ClinGen
ExAC
gnomAD
TCGA novel 45 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378287696
rs1381223131
48 E>G No ClinGen
gnomAD
CA378287704
rs1295812845
48 E>K No ClinGen
gnomAD
CA5713911
rs776056546
49 P>A No ClinGen
ExAC
gnomAD
rs1428372791
CA378287549
59 V>M No ClinGen
gnomAD
rs1013759865
CA214165882
60 D>E No ClinGen
Ensembl
TCGA novel 61 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA214165871
rs575800176
62 R>H No ClinGen
1000Genomes
gnomAD
rs892218354
CA214165867
63 K>R No ClinGen
Ensembl
rs1426132886
CA378287476
64 S>T No ClinGen
gnomAD
CA5713907
rs770731243
67 A>T No ClinGen
ExAC
TCGA novel 68 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 68 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 69 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA214165863
rs267602388
70 G>R No ClinGen
Ensembl
TCGA novel 71 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777749675
CA5713905
76 N>S No ClinGen
ExAC
gnomAD
rs776807662
CA214165842
77 I>V No ClinGen
Ensembl
TCGA novel 84 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5713873
rs758492981
88 D>V No ClinGen
ExAC
gnomAD
rs765480516
CA5713871
90 V>A No ClinGen
ExAC
gnomAD
rs185929392
CA5713870
96 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766042926
CA5713868
99 E>* No ClinGen
ExAC
gnomAD
rs772781682
CA5713867
99 E>G No ClinGen
ExAC
gnomAD
rs772781682
CA5713866
99 E>V No ClinGen
ExAC
gnomAD
rs892249524
CA214165463
105 K>E No ClinGen
gnomAD
CA378286703
rs1179861261
109 Q>H No ClinGen
gnomAD
rs1231548427
CA378286662
111 M>I No ClinGen
gnomAD
CA378286674
rs1441887078
111 M>L No ClinGen
gnomAD
CA5713864
rs761319152
112 V>I No ClinGen
ExAC
gnomAD
rs868631352
CA214165449
114 D>N No ClinGen
gnomAD
rs1451818237
CA378286598
115 I>T No ClinGen
gnomAD
TCGA novel 119 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378286507
rs1358158637
120 N>D No ClinGen
TOPMed
gnomAD
CA378286417
COSM465336
rs1299009750
124 P>L kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA378286277
rs953652867
127 V>F No ClinGen
TOPMed
gnomAD
CA214165135
rs953652867
127 V>I No ClinGen
TOPMed
gnomAD
CA214165120
rs929870787
128 L>I No ClinGen
gnomAD
TCGA novel 129 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378285461
rs1173745561
131 A>G No ClinGen
gnomAD
CA378285457
rs1173745561
131 A>V No ClinGen
gnomAD
rs1479911111
CA378285451
132 V>I No ClinGen
gnomAD
rs1195191818
CA378285376
137 T>A No ClinGen
gnomAD
CA378285369
rs1176544461
137 T>S No ClinGen
gnomAD
rs1241413917
CA378285309
141 T>A No ClinGen
gnomAD
TCGA novel 143 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1261037126
CA378285136
153 L>M No ClinGen
gnomAD
CA5713840
rs762744395
161 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA378285033
rs1471314610
163 L>V No ClinGen
TOPMed
TCGA novel 164 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1359995703
CA378285002
167 N>S No ClinGen
gnomAD
rs769746367
CA5713838
169 R>G No ClinGen
ExAC
gnomAD
TCGA novel 169 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1192479957
CA378284991
169 R>K No ClinGen
TOPMed
rs1408676010
CA378284972
172 R>C No ClinGen
gnomAD
rs942122392
CA214165042
COSM1346102
172 R>H large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA5713837
rs745767039
173 L>P No ClinGen
ExAC
gnomAD
CA5713835
rs746358454
177 I>M No ClinGen
ExAC
gnomAD
rs773321968
CA5713836
177 I>T No ClinGen
ExAC
gnomAD
rs760766102
CA214163129
181 A>G No ClinGen
TOPMed
CA5713817
rs764986538
186 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA5713816
rs759521093
187 Q>R No ClinGen
ExAC
gnomAD
CA378284851
rs1257163017
188 Y>H No ClinGen
TOPMed
gnomAD
rs1470372936
CA378284840
189 T>A No ClinGen
TOPMed
rs182093925
CA5713815
COSM915334
189 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5713813
rs761801638
190 R>H No ClinGen
ExAC
gnomAD
CA214163109
rs201828136
195 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA5713811
rs769021856
200 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1390093037
CA378284597
202 R>K No ClinGen
gnomAD
TCGA novel 204 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378284463
rs1293794819
209 Q>E No ClinGen
gnomAD
CA378283881
rs1406204567
210 R>C No ClinGen
gnomAD
CA378283880
rs1363194440
210 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs990171320
CA214163084
212 H>R No ClinGen
TOPMed
CA5713808
rs770258900
215 S>T No ClinGen
ExAC
gnomAD
CA378283812
rs1418339157
216 T>A No ClinGen
gnomAD
CA5713807
rs746446445
216 T>M No ClinGen
ExAC
gnomAD
TCGA novel 217 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5713806
rs141344937
218 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1490846075
CA378283758
219 N>T No ClinGen
gnomAD
rs1266878030
CA378283692
223 P>R No ClinGen
gnomAD
rs1263075905
CA378283599
228 M>I No ClinGen
gnomAD
rs1488900317
CA378283610
228 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs148280465
CA214163028
229 H>L No ClinGen
ESP
CA378283536
rs1355216530
232 T>A No ClinGen
gnomAD
rs751057698
CA5713804
232 T>S No ClinGen
ExAC
gnomAD
CA378283521
rs1301476769
233 R>G No ClinGen
gnomAD
rs1224981199
CA378283491
234 L>R No ClinGen
gnomAD
CA5713801
rs752325040
235 V>A No ClinGen
ExAC
gnomAD
CA5713802
rs758087075
235 V>L No ClinGen
ExAC
CA378283434
rs1589695582
238 D>A No ClinGen
Ensembl
rs759319190
CA5713799
239 S>G No ClinGen
ExAC
gnomAD
TCGA novel 242 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1196035001
CA378283015
252 A>V No ClinGen
gnomAD
rs1487714045
CA378282918
258 G>R No ClinGen
TOPMed
rs1249115341
CA378282848
263 S>P No ClinGen
gnomAD
rs1258935321
CA378282834
264 K>E No ClinGen
TOPMed
rs34481774 265 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1226141213
CA378282801
265 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 266 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA214161837
rs952254
267 P>L No ClinGen
Ensembl
CA378282747
rs1340975562
269 P>S No ClinGen
gnomAD
rs901768155
CA378282713
270 Q>H No ClinGen
gnomAD
CA378282661
CA378282657
rs1336258163
272 M>I No ClinGen
TOPMed
gnomAD
rs1040220007
CA214161831
272 M>L No ClinGen
gnomAD
CA378282668
rs1564759858
272 M>T No ClinGen
Ensembl
rs1004662565
CA378282573
276 Y>C No ClinGen
TOPMed
gnomAD
rs1004662565
CA214161814
276 Y>F No ClinGen
TOPMed
gnomAD
rs1166219857
CA378282330
287 G>A No ClinGen
gnomAD
rs747531147
CA5713769
293 A>S No ClinGen
ExAC
gnomAD
CA378282151
rs1443107580
296 L>F No ClinGen
TOPMed
gnomAD
CA5713766
rs776219979
298 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA214161787
rs931360270
298 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA378282080
rs1333195910
301 H>L No ClinGen
TOPMed
CA378282070
rs1439187661
302 L>F No ClinGen
gnomAD
TCGA novel 302 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748938713
CA5713763
308 K>R No ClinGen
ExAC
gnomAD
CA378281939
rs1243702155
310 L>F No ClinGen
gnomAD
CA5713762
rs7908387
313 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1444190826
CA378281834
CA378281840
315 M>I No ClinGen
gnomAD
rs1279921168
CA378281853
315 M>V No ClinGen
gnomAD
rs1418833809
CA378279646
318 M>V No ClinGen
TOPMed
CA378279619
rs1392153459
319 S>A No ClinGen
gnomAD
rs748949956
CA5713744
319 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs779751574
CA5713743
320 T>A No ClinGen
ExAC
gnomAD
rs146445105
CA214156752
321 R>G No ClinGen
ESP
gnomAD
CA378279562
rs1162849712
322 V>I No ClinGen
TOPMed
CA5713742
rs769274847
323 L>F No ClinGen
ExAC
TOPMed
rs1157562469
CA378279463
327 L>F No ClinGen
gnomAD
rs971645475
CA214156721
328 S>C No ClinGen
TOPMed
rs1480556514
CA378279433
329 I>V No ClinGen
TOPMed
gnomAD
rs745681119
CA5713741
330 P>A No ClinGen
ExAC
gnomAD
CA5713740
rs545176741
331 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1023161184
CA378279291
334 E>D No ClinGen
TOPMed
gnomAD
rs199796475
COSM915332
CA5713738
335 R>H Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199796475
CA378279283
335 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777221269
CA5713737
336 T>A No ClinGen
ExAC
gnomAD
rs755084308
CA5713736
COSM244228
336 T>M Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777221269
CA214156680
336 T>S No ClinGen
ExAC
gnomAD
rs542911129
CA5713735
340 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA378279085
rs1318157300
344 M>T No ClinGen
TOPMed
rs766634954
CA5713734
347 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA214156659
rs554219927
348 I>T No ClinGen
TOPMed
rs750814731
CA5713732
349 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA5713733
rs375817409
349 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5713730
rs762356806
354 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA5713728
rs768116056
357 T>A No ClinGen
ExAC
gnomAD
rs977034204
CA214156636
359 L>V No ClinGen
gnomAD
rs1407804417
CA378278784
360 G>S No ClinGen
gnomAD
rs1173848289
CA378278776
361 L>I No ClinGen
gnomAD
TCGA novel 362 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs886164216
CA214156620
365 P>L No ClinGen
TOPMed
gnomAD
CA214156621
rs539066982
365 P>S No ClinGen
Ensembl
CA5713725
rs116978322
366 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5713724
rs745485737
366 T>R No ClinGen
ExAC
TOPMed
CA5713723
rs372394395
368 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145348629
CA5713722
369 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA214156576
rs374269813
371 I>V No ClinGen
ESP
TOPMed
rs997335180
CA378278455
372 N>D No ClinGen
TOPMed
gnomAD
rs997335180
CA214156572
372 N>H No ClinGen
TOPMed
gnomAD
rs747014383
CA5713721
374 M>T No ClinGen
ExAC
gnomAD
CA214156557
rs901793271
374 M>V No ClinGen
TOPMed
gnomAD
CA378276457
rs1181907488
376 R>G No ClinGen
gnomAD
rs764686771
CA5713710
377 F>L No ClinGen
ExAC
gnomAD
rs1024136470
CA214152972
378 N>S No ClinGen
TOPMed
gnomAD
TCGA novel 379 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5713709
rs763331092
379 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA378276324
rs1454409358
381 Q>L No ClinGen
TOPMed
rs149836727
CA214152952
382 Y>C No ClinGen
ESP
TOPMed
gnomAD
CA5713706
rs759323743
385 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs967185
VAR_024438
CA214152910
386 E>K No ClinGen
UniProt
Ensembl
dbSNP
rs746816340
CA5713703
387 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA378276009
rs1439346338
392 N>S Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs772075341
CA5713701
393 W>G No ClinGen
ExAC
gnomAD
CA5713700
rs748001196
394 L>I No ClinGen
ExAC
gnomAD
rs1419494565
CA378275558
404 C>G No ClinGen
gnomAD
rs1419494565
CA378275563
404 C>R No ClinGen
gnomAD
CA378275430
rs1311348617
406 R>Q No ClinGen
gnomAD
rs1246770220
CA378275400
407 V>I No ClinGen
TOPMed
CA378275371
rs1251172647
408 T>A No ClinGen
TOPMed
gnomAD
rs778259276
CA5713673
410 V>G No ClinGen
ExAC
CA378274921
rs1300430536
412 N>S No ClinGen
TOPMed
gnomAD
TCGA novel
rs755496726
CA5713669
413 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
CA5713670
CA5713671
rs773165564
413 W>R No ClinGen
ExAC
gnomAD
CA378274794
rs1286882153
415 R>T No ClinGen
gnomAD
rs947968887
CA214152364
418 P>L No ClinGen
TOPMed
CA378274649
rs1388146467
420 K>Q No ClinGen
gnomAD
CA214152363
rs200274500
421 E>D No ClinGen
1000Genomes
TOPMed
gnomAD
rs765953832
CA5713667
421 E>V No ClinGen
ExAC
gnomAD
CA5713665
rs750027021
422 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA378274591
rs750027021
422 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5713666
rs750027021
422 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA5713663
rs774135968
426 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs537661767
CA5713660
429 P>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA5713661
rs768601430
429 P>S No ClinGen
ExAC
CA378274454
rs1263322442
432 Q>R No ClinGen
gnomAD
CA378274437
rs1342173195
433 N>S No ClinGen
gnomAD
CA5713658
rs770985156
434 N>T No ClinGen
ExAC
gnomAD
rs1227587491
CA378274412
435 T>A No ClinGen
gnomAD
rs1309165203
CA378274389
437 L>F No ClinGen
TOPMed
gnomAD
CA5713657
rs139877301
438 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1434040878
CA378274070
COSM356688
438 R>H lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1159649806
CA378274051
441 Q>L No ClinGen
TOPMed
rs1589691402
CA378273798
443 V>G No ClinGen
Ensembl
CA5713583
rs543975402
448 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA5713582
rs777200290
449 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA214147042
rs1027319681
449 S>N No ClinGen
gnomAD
rs777229449
CA5713579
451 E>A No ClinGen
ExAC
gnomAD
rs746547732
CA5713580
451 E>K No ClinGen
ExAC
gnomAD
CA214147004
rs761268231
452 F>L No ClinGen
Ensembl
rs1230125116
CA378273518
453 S>C No ClinGen
TOPMed
rs747779644
CA5713577
454 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1340748038
CA378273501
454 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs778628557
CA5713576
456 T>I No ClinGen
ExAC
rs1297302670
CA378273450
457 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 457 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs958821857
CA214146980
459 V>I No ClinGen
Ensembl
rs1380842080
CA378273382
460 P>L No ClinGen
gnomAD
CA214146978
rs1035484405
460 P>S No ClinGen
Ensembl
rs1446584438
CA378273294
464 A>T No ClinGen
gnomAD
rs1354629287
CA378273274
464 A>V No ClinGen
gnomAD
CA5713573
rs780050368
466 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA5713571
rs751720763
469 R>Q No ClinGen
ExAC
gnomAD
COSM202531
rs770069171
CA5713572
469 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378273167
rs1564755188
471 I>T No ClinGen
Ensembl
CA378273173
rs1163958582
471 I>V No ClinGen
TOPMed
gnomAD
CA214146943
rs866281059
474 A>S No ClinGen
Ensembl
CA5713569
rs763315303
474 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs574995777
CA5713568
475 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs574995777
CA214146937
475 A>T No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 479 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 481 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 482 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758556287
CA5713552
483 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA378272906
rs1386065055
484 I>V No ClinGen
TOPMed
rs1349363557
CA378272888
485 D>N No ClinGen
TOPMed
gnomAD
rs752664993
CA5713551
487 T>N No ClinGen
ExAC
gnomAD
rs372799903
CA378272827
488 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5713550
rs372799903
488 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368536646
CA214146721
489 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147473317
CA5713548
489 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5713549
rs368536646
489 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5713546
rs761232172
490 T>A No ClinGen
ExAC
gnomAD
CA5713545
rs549355028
492 S>G No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 494 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266613051
CA378272723
495 S>F No ClinGen
TOPMed
rs1192078295
CA378272621
500 A>V No ClinGen
TOPMed
CA378272606
rs1265946910
502 R>G No ClinGen
gnomAD
CA378272601
rs1190946752
502 R>Q No ClinGen
gnomAD
rs893210167
CA214146684
503 E>D No ClinGen
TOPMed
gnomAD
rs1469711052
CA378272546
505 A>V No ClinGen
Ensembl
rs535803217
CA5713540
506 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs535803217
CA378272532
506 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769698715
CA5713538
510 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs143103280
CA214146633
514 M>I No ClinGen
ESP
rs991852930
CA214146628
517 E>G No ClinGen
Ensembl
rs1382524267
CA378272283
519 I>M No ClinGen
gnomAD
CA5713535
rs757095199
521 N>S No ClinGen
ExAC
gnomAD
TCGA novel 522 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748292540
CA5713534
524 T>S No ClinGen
ExAC
gnomAD
rs1433167655
CA378272200
525 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA378272151
rs1193340684
528 S>L No ClinGen
gnomAD
rs150218827
CA5713531
531 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150218827
CA214146596
531 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA214146573
rs752035689
532 K>E No ClinGen
Ensembl
rs924745335
CA214146567
533 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs756470845
CA5713529
536 V>I No ClinGen
ExAC
gnomAD
rs775937350
CA214146537
539 P>L No ClinGen
Ensembl
CA378271981
rs1187128061
540 A>S No ClinGen
gnomAD
rs768032312
CA5713527
540 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs778146712
CA5713525
541 H>R No ClinGen
ExAC
gnomAD
rs1255276164
CA378271933
542 I>T No ClinGen
TOPMed
gnomAD
rs149307032
CA5713524
542 I>V No ClinGen
ESP
ExAC
gnomAD
CA378290579
rs1272127385
544 Q>H No ClinGen
gnomAD
rs1366723510
CA378290584
544 Q>R No ClinGen
TOPMed
TCGA novel 545 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368983014
CA378290539
548 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368983014
CA5713511
548 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378290527
rs1306232289
549 Q>E No ClinGen
TOPMed
rs1456050795
CA378290523
549 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA378290515
rs1182234064
550 H>Y No ClinGen
gnomAD
CA378290503
rs1473306979
551 Q>* No ClinGen
gnomAD
CA5713509
rs750814876
551 Q>H No ClinGen
ExAC
gnomAD
CA214180671
rs202223201
556 A>T No ClinGen
1000Genomes
gnomAD
CA378290445
rs1207890993
557 Y>N No ClinGen
TOPMed
gnomAD
CA378290437
rs1354468578
558 L>I No ClinGen
gnomAD
TCGA novel 561 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378290407
rs1352419006
562 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1286924574
CA378290398
564 E>K No ClinGen
gnomAD
rs751996758
CA5713506
567 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5713507
rs757829140
567 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 568 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763725528
CA5713505
568 I>N No ClinGen
ExAC
gnomAD
rs1159479377
CA378290355
570 A>V No ClinGen
gnomAD
CA378290345
rs1458309418
572 R>H No ClinGen
gnomAD
CA378290339
rs1589690845
573 Q>P No ClinGen
Ensembl
rs1589690844
CA378290333
574 T>A No ClinGen
Ensembl
CA5713503
rs775092336
577 E>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 580 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5713502
rs765014742
581 R>C No ClinGen
ExAC
gnomAD
CA5713501
rs375953429
581 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1450840543
CA378290264
584 S>G No ClinGen
gnomAD
rs142475279
CA5713499
584 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747038167
CA378290249
586 N>I No ClinGen
ExAC
gnomAD
rs747038167
CA5713498
586 N>T No ClinGen
ExAC
gnomAD
TCGA novel 588 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5713496
rs533743806
596 Q>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1231462271
CA378290116
604 V>A No ClinGen
gnomAD
rs770042179
CA5713493
605 R>Q Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA378290072
rs1398275673
610 E>D No ClinGen
TOPMed
CA378290047
rs1386077522
613 R>C No ClinGen
TOPMed
gnomAD
rs1386077522
CA378290048
613 R>G No ClinGen
TOPMed
gnomAD
rs781663151
CA5713491
613 R>H No ClinGen
ExAC
gnomAD
rs1334600633
CA378290001
617 K>R No ClinGen
TOPMed
rs1370864891
CA378289971
620 E>Q No ClinGen
gnomAD
TCGA novel 623 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751893874
CA5713489
628 H>R No ClinGen
ExAC
rs1270426651
CA378289841
630 Q>R No ClinGen
TOPMed
rs1477536131
CA378289759
636 V>I No ClinGen
gnomAD
CA5713487
rs758936109
639 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1466403883
CA378289570
647 E>Q No ClinGen
gnomAD
rs759323330
CA5713484
651 K>R No ClinGen
ExAC
gnomAD
CA5713483
rs753431981
656 I>L No ClinGen
ExAC
gnomAD
rs753431981
CA378289417
656 I>V No ClinGen
ExAC
gnomAD
CA214180518
rs199839032
657 D>H No ClinGen
Ensembl
CA378289393
rs1217987834
657 D>V No ClinGen
gnomAD
CA378289377
rs1347880001
658 I>T No ClinGen
gnomAD
CA378289369
rs1240396815
659 E>K No ClinGen
TOPMed
rs1350990472
CA378289231
660 D>E No ClinGen
gnomAD
CA5713465
rs765966923
660 D>G No ClinGen
ExAC
gnomAD
rs1427519256
CA378289128
674 V>F No ClinGen
gnomAD
TCGA novel 678 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1162336340
CA378289031
687 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
VAR_048921
rs431898
CA214179725
694 K>N No ClinGen
UniProt
Ensembl
dbSNP
rs1453783196
CA378288978
694 K>R No ClinGen
TOPMed
TCGA novel 695 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1394470170
CA378288960
695 I>T No ClinGen
gnomAD
CA5713437
rs766470835
695 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA378288945
rs1564754055
697 Y>C No ClinGen
Ensembl
CA214179605
rs755417206
701 A>S No ClinGen
gnomAD
CA378288903
rs1389724057
703 R>H No ClinGen
TOPMed
gnomAD
CA5713435
rs773575888
703 R>S No ClinGen
ExAC
gnomAD
CA5713434
rs772366328
704 L>V No ClinGen
ExAC
gnomAD
CA378288888
rs1451757668
705 E>D No ClinGen
gnomAD
CA5713433
rs774812566
708 P>A No ClinGen
ExAC
gnomAD
CA5713432
rs774812566
708 P>S No ClinGen
ExAC
gnomAD
CA378288871
rs774812566
708 P>T No ClinGen
ExAC
gnomAD
rs1177445051
CA378288858
710 I>L No ClinGen
TOPMed
gnomAD
rs1177445051
CA378288859
710 I>V No ClinGen
TOPMed
gnomAD
rs780837333
CA5713431
712 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs779486167
CA5713429
713 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 715 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs944297632
CA214179543
721 D>V No ClinGen
TOPMed
gnomAD
CA378288769
rs1485265610
722 M>T No ClinGen
gnomAD
CA5713426
rs555453333
722 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1441777776
CA378288760
723 D>G No ClinGen
TOPMed
rs1589690434
CA378288696
731 E>D No ClinGen
Ensembl
CA5713406
rs769049420
733 I>V No ClinGen
ExAC
gnomAD
rs577953155
CA5713405
735 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1205544180
CA378287277
736 M>V No ClinGen
gnomAD
rs1344055760
CA378287236
739 E>G No ClinGen
gnomAD
CA214175450
rs866978465
740 R>C No ClinGen
gnomAD
CA214175445
rs935852797
740 R>H No ClinGen
TOPMed
gnomAD
CA5713404
rs138627360
741 E>A No ClinGen
ESP
ExAC
gnomAD
CA5713403
rs770141398
743 A>T No ClinGen
ExAC
gnomAD
rs150172410
CA214175426
744 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150172410
CA5713402
744 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 752 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1312831663
CA378287063
757 R>S No ClinGen
TOPMed
gnomAD
TCGA novel 758 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5713398
rs746652013
761 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA378287014
rs1461149831
762 M>V No ClinGen
gnomAD
CA378286995
rs1368724391
763 R>Q No ClinGen
gnomAD
rs758219482
CA5713397
765 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs758219482
CA5713396
765 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs141604213
CA5713395
767 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141604213
CA378286953
767 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378286949
rs1182819547
768 R>W No ClinGen
gnomAD
CA5713393
rs137888308
769 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5713392
rs750567204
770 S>T No ClinGen
ExAC
gnomAD
CA5713391
rs767679172
771 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA378286919
rs767679172
771 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA5713390
rs762181950
772 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA5713367
rs145288541
777 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs978702708
CA214174982
777 K>T No ClinGen
Ensembl
CA5713366
rs750837378
782 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs775536640
CA214174970
785 E>Q No ClinGen
gnomAD
rs577816783
CA5713365
787 R>S No ClinGen
1000Genomes
ExAC
gnomAD
CA378286673
rs1393491516
788 H>D No ClinGen
TOPMed
rs1379136826
CA378286663
789 N>D No ClinGen
gnomAD
rs867187359
CA214174958
790 R>* No ClinGen
Ensembl
CA5713363
rs772554138
790 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5713364
COSM915326
rs772554138
790 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771793248
CA378286640
791 L>S No ClinGen
ExAC
gnomAD
rs771793248
CA5713362
791 L>W No ClinGen
ExAC
gnomAD
rs1168732515
CA378286608
794 R>W No ClinGen
TOPMed
rs747737267
CA5713361
795 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA5713360
rs769916354
796 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA378286575
rs1448826806
797 Q>L No ClinGen
gnomAD
CA5713358
rs749026139
799 K>E No ClinGen
ExAC
gnomAD
CA378286530
rs1249974592
801 E>G No ClinGen
gnomAD
COSM1638452
rs968700901
CA214174912
802 R>H Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA378286517
rs968700901
802 R>L No ClinGen
TOPMed
gnomAD
RCV000960920
rs77382849
CA5713355
803 R>K No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA378286506
rs1369738240
803 R>S No ClinGen
gnomAD
rs1029741037
CA214174909
804 I>R No ClinGen
Ensembl
rs1297912731
CA378286487
805 T>I No ClinGen
TOPMed
gnomAD
rs1297912731
CA378286489
805 T>K No ClinGen
TOPMed
gnomAD
CA5713353
rs758704628
807 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1275579370
CA378286446
809 E>G No ClinGen
TOPMed
rs1469357428
CA378286440
810 K>E No ClinGen
TOPMed
rs111676210
CA214174881
813 E>A No ClinGen
Ensembl
rs1171476562
CA378286399
813 E>K No ClinGen
gnomAD
rs770493523 814 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA5713347
rs754149398
817 R>T No ClinGen
ExAC
gnomAD
CA5713346
rs372255299
818 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5713345
rs761136012
821 Q>E No ClinGen
ExAC
gnomAD
rs772831549
CA5713344
821 Q>H No ClinGen
ExAC
gnomAD
CA5713343
rs766927615
822 M>I No ClinGen
ExAC
gnomAD
CA5713321
rs762663906
826 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5713320
rs775483372
828 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs149195320
CA5713319
830 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5713318
rs759307585
831 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5713317
rs776444945
831 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA378285960
rs776444945
831 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA378285964
rs759307585
831 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs200404714
CA214174301
832 A>T No ClinGen
TOPMed
gnomAD
rs1461972897
CA378285951
832 A>V No ClinGen
gnomAD
rs778928763
CA378285948
833 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778928763
CA5713314
833 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA214174289
rs919153860
834 R>G No ClinGen
TOPMed
gnomAD
rs1475147266
CA378285934
834 R>Q No ClinGen
TOPMed
gnomAD
CA5713313
rs768911727
836 K>R No ClinGen
ExAC
gnomAD
CA5713312
rs749503423
837 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA378285905
rs749503423
837 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5713311
rs756443319
837 R>H No ClinGen
ExAC
gnomAD
CA5713310
rs756443319
837 R>L No ClinGen
ExAC
gnomAD
rs781574536
CA5713308
838 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA378285880
rs1475918890
839 E>G No ClinGen
TOPMed
CA5713306
rs751156238
842 R>Q No ClinGen
ExAC
gnomAD
rs763675408
CA5713305
844 Y>C No ClinGen
ExAC
gnomAD
CA214174276
rs897165912
847 R>Q No ClinGen
TOPMed
gnomAD
CA5713304
rs762760258
847 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1397025008
CA378285734
852 E>D No ClinGen
gnomAD
TCGA novel 852 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 853 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764924492
CA5713302
854 V>A No ClinGen
ExAC
CA5713301
rs374609913
859 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378285657
rs1346245231
859 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA214174254
rs573093581
860 Q>E No ClinGen
1000Genomes
gnomAD
CA5713300
rs776444269
860 Q>R No ClinGen
ExAC
gnomAD
CA378285581
rs1250786645
865 I>T No ClinGen
gnomAD
CA378285563
rs1212471310
867 E>Q No ClinGen
gnomAD
CA5713295
rs749303672
870 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA214174216
rs749303672
870 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs150064739
CA5713296
870 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5713294
rs780272294
871 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5713293
rs372201993
871 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1301700261
CA378285488
874 E>A No ClinGen
TOPMed
gnomAD
CA378285485
rs1301700261
874 E>G No ClinGen
TOPMed
gnomAD
rs1042818436
CA214174213
875 E>A No ClinGen
TOPMed
rs970104483
CA214174212
876 R>G No ClinGen
Ensembl
CA5713291
rs781589940
878 L>R No ClinGen
ExAC
gnomAD
CA378285399
rs1440173236
880 D>N No ClinGen
gnomAD
CA5713288
rs778357598
882 S>C No ClinGen
ExAC
gnomAD
rs746080611
CA378284196
888 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs746080611
CA5713275
888 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs776919253
CA5713274
889 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA214169522
rs1014028323
889 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA378284191
rs776919253
889 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA378284167
rs1347096024
891 G>E No ClinGen
TOPMed
rs1418987397
CA378284151
893 R>G No ClinGen
Ensembl
CA5713272
rs147876651
896 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771329719
CA5713273
896 E>K No ClinGen
ExAC
gnomAD
CA5713270
rs758932223
898 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA378284033
rs1484683027
903 P>S No ClinGen
gnomAD
rs1256512543
CA378284013
905 A>T No ClinGen
gnomAD
rs1196198919
CA378283995
906 D>V No ClinGen
gnomAD
CA378283981
rs1481059367
907 S>F No ClinGen
TOPMed
gnomAD
CA214169452
rs897313650
909 W>R No ClinGen
TOPMed
TCGA novel 910 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 910 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5713268
rs769492560
913 P>L No ClinGen
ExAC
gnomAD
rs1294055850
CA378283906
914 P>L No ClinGen
gnomAD
CA378283895
rs1235668473
915 E>D No ClinGen
gnomAD
rs202038940
CA5713265
916 K>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 917 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780944947
CA5713244
920 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1311948696
CA378283801
920 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs751510944
CA378283784
COSM915321
922 E>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs751510944
CA5713242
922 E>Q No ClinGen
ExAC
gnomAD
CA378283761
rs1206222953
924 R>Q No ClinGen
TOPMed
gnomAD
rs199545338
CA214168213
925 D>H No ClinGen
1000Genomes
rs759683732
CA5713240
925 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs753819887
CA5713239
926 E>G No ClinGen
ExAC
gnomAD
CA5713238
rs369943865
927 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378283725
rs369943865
927 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1371226414
CA378283698
930 H>Y No ClinGen
gnomAD
CA378283679
rs1305182255
931 R>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 932 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773767917
CA5713236
932 R>G No ClinGen
ExAC
gnomAD
CA378283631
rs1318482622
935 E>G No ClinGen
gnomAD
CA5713235
rs772556791
935 E>K No ClinGen
ExAC
gnomAD
CA378283623
rs774940035
COSM320090
936 R>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5713233
rs774940035
936 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5713234
rs762013834
936 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1589685475
CA378283616
937 P>S No ClinGen
Ensembl
CA5713230
rs779403737
938 R>P No ClinGen
ExAC
gnomAD
CA378283606
rs779403737
938 R>Q No ClinGen
ExAC
gnomAD
rs768154603
CA5713231
938 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5713229
rs769486420
939 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs186145626
CA5713227
939 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5713228
rs186145626
939 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1449190712
CA378283575
942 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs142152144
CA5713226
942 D>N No ClinGen
ESP
ExAC
gnomAD
CA5713225
rs142152144
942 D>Y No ClinGen
ESP
ExAC
gnomAD
rs747894931
CA214168146
945 D>H No ClinGen
Ensembl
rs1260302211
CA378283500
948 P>L No ClinGen
gnomAD
rs1392725807
CA378283505
948 P>S No ClinGen
TOPMed
CA5713224
rs777796020
949 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA5713223
rs200680965
950 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378283466
rs1343901895
952 P>R No ClinGen
gnomAD
rs962014575
CA214168115
952 P>S No ClinGen
TOPMed
gnomAD
rs761041318
CA5713220
954 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA378283443
rs1225512854
954 D>V No ClinGen
gnomAD
CA378283423
rs1373174427
COSM915319
956 R>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA5713219
rs144099570
956 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1415390218
CA378283413
957 V>A No ClinGen
gnomAD
CA5713217
COSM1739668
rs762264416
958 P>S Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5713215
rs558278066
959 R>L No ClinGen
1000Genomes
ExAC
gnomAD
CA5713214
rs558278066
959 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA5713216
RCV000882835
rs372977820
959 R>W No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1424754541
CA378283393
960 R>C No ClinGen
TOPMed
gnomAD
COSM1346095
CA5713213
rs775041698
960 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378283379
rs1476435369
961 G>D No ClinGen
gnomAD
rs769290054
CA5713212
962 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA378283345
rs1456544980
964 D>G No ClinGen
TOPMed
CA5713211
rs745318119
964 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs756368951
CA5713209
966 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1441428483
CA378283309
967 G>V No ClinGen
gnomAD
rs746859660
CA5713208
968 P>S No ClinGen
ExAC
gnomAD
CA378283283
rs1336870426
970 R>C No ClinGen
gnomAD
rs555999896
CA5713207
970 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs555999896
CA378283280
970 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758416031
CA5713206
971 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA378283260
rs1357346389
972 P>L No ClinGen
gnomAD
CA378283253
rs1447055905
973 E>G No ClinGen
TOPMed
gnomAD
CA5713205
rs748028122
973 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs376222097
CA5713203
977 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5713204
rs778923892
977 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA214167958
rs757331563
979 R>C No ClinGen
Ensembl
CA5713202
rs201081411
979 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5713201
rs767887874
980 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5713200
rs757392562
980 R>H No ClinGen
ExAC
gnomAD
rs763586296
CA5713197
981 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA5713199
rs752007958
981 G>R No ClinGen
ExAC
gnomAD
rs763586296
CA5713198
981 G>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 982 A>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs138166626
CA5713194
984 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149533913
CA5713195
984 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA214167907
rs141034070
986 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs553684707
CA5713192
986 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs141034070
CA5713193
986 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773122822
CA5713191
987 P>S No ClinGen
ExAC
gnomAD
CA5713190
rs773122822
987 P>T No ClinGen
ExAC
gnomAD
TCGA novel 989 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378283147
rs1336808201
990 R>C No ClinGen
TOPMed
gnomAD
rs771764319
COSM1638451
CA5713189
990 R>H Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA378283135
rs1227473183
992 T>A No ClinGen
gnomAD
CA5713187
RCV000965864
VAR_048922
rs532138
993 D>E No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs747890771
CA5713188
993 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA378283120
rs1468871697
994 D>G No ClinGen
TOPMed
rs754930416
CA5713186
995 D>N No ClinGen
ExAC
gnomAD
CA378283078
rs1265180345
998 P>R No ClinGen
TOPMed
CA5713185
rs369661440
COSM3790518
998 P>S Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378283074
rs1397236426
999 R>G No ClinGen
gnomAD
COSM271236
CA5713183
rs757558927
1000 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1193607748
CA378283041
1002 A>T No ClinGen
TOPMed
CA5713180
rs375163326
1006 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5713179
rs200447155
1008 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5713178
rs550694488
COSM915318
1010 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1193642105
CA378282943
1010 R>H No ClinGen
TOPMed
gnomAD
CA378282936
COSM915316
rs1292348830
1011 H>R Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA5713177
rs372236521
1012 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1270788974
CA378282910
1013 D>G No ClinGen
TOPMed
gnomAD
CA378282907
rs1270788974
1013 D>V No ClinGen
TOPMed
gnomAD
CA378282902
rs1293993952
1014 D>H No ClinGen
TOPMed
rs1334351723
CA378282818
1021 G>R No ClinGen
TOPMed
TCGA novel 1022 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1219449553
CA378282803
1022 L>P No ClinGen
TOPMed
rs765798154
CA5713173
1023 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1182676002
CA378282771
1025 D>Y No ClinGen
Ensembl
CA214167868
rs923086240
1028 S>R No ClinGen
TOPMed
gnomAD
rs1291905279
CA378282703
1030 R>* No ClinGen
gnomAD
COSM172252
CA5713171
rs138563024
1030 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771703503
CA5713170
1031 T>I No ClinGen
ExAC
gnomAD
CA214167847
rs940397442
1033 D>E No ClinGen
Ensembl
rs761734463
CA5713169
1033 D>V No ClinGen
ExAC
gnomAD
CA5713167
rs368710619
1040 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1040 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368710619
CA5713168
1040 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000890858
CA5713166
rs113389368
1042 M>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs113389368
CA378282535
1042 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1308934575
CA378282464
1045 D>E No ClinGen
gnomAD
rs1455360863
CA378282457
1046 R>Q No ClinGen
gnomAD
rs141022993
RCV000888708
CA5713165
1046 R>W No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs770920278
CA5713164
1047 G>R No ClinGen
ExAC
gnomAD
rs777887330
CA5713162
1048 P>L No ClinGen
ExAC
gnomAD
rs375001473
CA5713160
1050 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
TCGA novel 1052 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779235561
CA5713159
1052 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA378282372
rs1454714579
1053 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA5713156
rs766849461
1055 D>V No ClinGen
ExAC
gnomAD
CA378282291
rs1386316965
1057 R>Q No ClinGen
TOPMed
gnomAD
CA378282262
rs1291160135
1059 S>Y No ClinGen
gnomAD
CA378282233
COSM1346093
rs1360285001
1061 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
COSM1166840
CA5713152
rs761540126
1061 R>H ovary large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1360285001
CA378282237
1061 R>S No ClinGen
gnomAD
TCGA novel 1063 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs998310900
CA214167764
1064 D>N No ClinGen
TOPMed
rs774350369
CA5713151
1065 D>E No ClinGen
ExAC
gnomAD
rs1436171631
CA378281446
1065 D>N No ClinGen
TOPMed
gnomAD
rs768568095
CA5713150
1066 D>G No ClinGen
ExAC
rs1174695568
CA378281430
1066 D>N No ClinGen
gnomAD
rs775305152
CA5713148
1067 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1296985
rs762770253
CA5713149
1067 R>W urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
rs769724773
CA5713147
1068 G>C No ClinGen
ExAC
gnomAD
rs769724773
CA378281415
1068 G>R No ClinGen
ExAC
gnomAD
rs201238784
CA5713146
1068 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5713144
rs777884334
1069 P>S No ClinGen
ExAC
TOPMed
rs1487958304
CA378281393
1070 R>S No ClinGen
TOPMed
gnomAD
CA378281390
rs1257943849
1071 R>* No ClinGen
TOPMed
gnomAD
CA378281381
rs772338128
1071 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5713143
rs772338128
1071 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs748364566
CA214165723
1073 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1158648540
CA378281367
1073 L>M No ClinGen
TOPMed
rs1158648540
CA378281366
1073 L>V No ClinGen
TOPMed
rs754180203
CA5713140
1075 D>E No ClinGen
ExAC
TOPMed
rs779036916
CA5713141
1075 D>N No ClinGen
ExAC
CA214165719
rs367644732
1076 D>H No ClinGen
ESP
TOPMed
rs780453479
CA5713138
1076 D>V No ClinGen
ExAC
CA214165685
rs375388729
1077 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
CA378281301
rs1299972532
1078 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1374228102
CA378281276
1080 R>K No ClinGen
TOPMed
rs564332910
CA214165664
1083 M>I No ClinGen
1000Genomes
rs533403831
CA378281249
1083 M>L No ClinGen
1000Genomes
TOPMed
gnomAD
rs533403831
CA214165681
1083 M>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA378281193
rs1589685217
1086 D>G No ClinGen
Ensembl
rs935515675
CA378281184
1087 R>G No ClinGen
TOPMed
gnomAD
COSM1205116
CA214165652
rs935515675
1087 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs756616657
CA214165624
1088 G>D No ClinGen
ExAC
gnomAD
rs756616657
CA5713135
1088 G>V No ClinGen
ExAC
gnomAD
CA378281163
rs1313816458
1089 P>A No ClinGen
gnomAD
CA378281164
rs1313816458
1089 P>T No ClinGen
gnomAD
rs199981646
CA5713134
1091 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA378281113
rs1252698690
1093 M>L No ClinGen
TOPMed
rs544546288
CA5713130
1097 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201878122
CA5713131
1097 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1251456087
CA378281040
1098 G>C No ClinGen
gnomAD
rs1462225490
CA378281027
1099 P>L No ClinGen
gnomAD
CA5713129
rs370630701
1101 R>Q No ClinGen
ESP
ExAC
TOPMed
rs370517625
CA5713127
1103 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378280982
rs763781681
CA5713128
1103 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1564749174
CA378280959
1104 D>V No ClinGen
Ensembl
CA378280953
rs1486418182
1105 D>Y No ClinGen
gnomAD
rs1172881357
CA378280922
1106 D>V No ClinGen
TOPMed
CA5713126
rs775316858
1107 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs759503994
CA378280874
1111 R>P No ClinGen
ExAC
TOPMed
CA5713124
rs759503994
1111 R>Q No ClinGen
ExAC
TOPMed
CA214165548
rs1045446907
1112 G>R No ClinGen
TOPMed
TCGA novel 1112 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5713121
rs746516522
1113 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs746516522
CA378280863
1113 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA5713120
rs143496426
1113 L>W No ClinGen
1000Genomes
ExAC
gnomAD
CA378280849
rs1366733174
1114 D>V No ClinGen
TOPMed
CA214165522
rs567901745
1117 R>G No ClinGen
Ensembl
CA214165509
rs768823906
1117 R>L No ClinGen
ExAC
gnomAD
rs768823906
CA5713119
COSM293817
1117 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5713117
rs749657975
1118 G>R No ClinGen
ExAC
TOPMed
rs780445995
CA5713116
1118 G>V No ClinGen
ExAC
TOPMed
rs756641321
CA378280728
CA378280730
1122 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA5713114
rs746385539
1123 A>T No ClinGen
ExAC
gnomAD
CA5713110
rs763871929
1124 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs756841124
CA5713112
1124 D>N No ClinGen
ExAC
gnomAD
rs1235459385
CA378280668
1125 D>G No ClinGen
gnomAD
CA378280646
rs1564749117
1126 D>A No ClinGen
Ensembl
rs758045564
CA5713108
1127 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1312539891
CA378280638
1127 R>K No ClinGen
TOPMed
gnomAD
CA378280618
rs1188622119
1128 I>M No ClinGen
TOPMed
CA378280604
rs1564749098
1129 P>L No ClinGen
Ensembl
rs765075620
CA378280571
1131 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs186488697
CA5713105
1131 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765075620
CA5713106
1131 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs766251297
CA5713103
1135 D>V No ClinGen
ExAC
gnomAD
rs201036917
CA5713102
1136 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774380221
CA5713101
1137 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs375187185
CA5713100
1138 G>S No ClinGen
ESP
ExAC
gnomAD
rs749516209
CA5713099
1139 P>H No ClinGen
ExAC
gnomAD
CA378280411
rs1240295386
1141 R>K No ClinGen
gnomAD
CA5713097
rs770203283
1141 R>S No ClinGen
ExAC
gnomAD
CA5713095
rs781770355
1143 M>V No ClinGen
ExAC
gnomAD
CA5713094
rs757801252
1145 D>G No ClinGen
ExAC
gnomAD
rs1434085900
CA378280350
1145 D>N No ClinGen
TOPMed
rs1354908359
CA378280336
1146 D>H No ClinGen
gnomAD
CA5713092
rs202128409
1147 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5713093
rs202128409
1147 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1340768719
CA378280327
COSM3414737
1147 R>H large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA378280325
rs1408257776
1148 L>F No ClinGen
gnomAD
CA378280318
rs1217575756
1149 S>P No ClinGen
TOPMed
rs557261501
CA214165351
1150 R>G No ClinGen
gnomAD
CA5713091
rs758053186
1151 R>C No ClinGen
ExAC
gnomAD
CA5713090
rs752397968
1151 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA378280296
rs1395512633
1153 D>H No ClinGen
TOPMed
gnomAD
rs1395512633
CA378280297
1153 D>N No ClinGen
TOPMed
gnomAD
rs754819756
CA5713088
1156 R>G No ClinGen
ExAC
TOPMed
rs753587192
CA5713087
1156 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5713089
rs754819756
1156 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs967872513
CA214165332
1157 F>L No ClinGen
Ensembl
CA5713083
rs751698823
1160 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs760586367
CA5713084
1160 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs764157875
CA5713082
1161 G>R No ClinGen
ExAC
gnomAD
rs1454706308
CA378280244
1161 G>V No ClinGen
TOPMed
gnomAD
rs771565726
CA5713081
1162 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs771565726
CA5713080
1162 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1439387846
CA378280183
1166 P>L No ClinGen
gnomAD
rs769860513
CA5713079
1166 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378280166
rs1253666293
1168 P>S No ClinGen
gnomAD
CA378280117
rs373036457
1171 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5713076
rs373036457
1171 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5713075
rs373036457
1171 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777107645
CA5713077
1171 P>T No ClinGen
ExAC
CA378280112
rs1356283894
1172 L>V No ClinGen
TOPMed
gnomAD
rs996845744
CA214165213
1176 G>R No ClinGen
TOPMed
rs996845744
CA378280068
1176 G>S No ClinGen
TOPMed
rs953399459
CA214162359
1183 K>E No ClinGen
TOPMed
CA214162352
rs867942878
1184 A>D No ClinGen
gnomAD
CA378279147
rs867942878
1184 A>V No ClinGen
gnomAD
rs1052843926
CA214162334
1187 E>V No ClinGen
Ensembl
CA5713057
rs777200105
1188 S>R No ClinGen
ExAC
CA214162323
rs935426768
1190 G>V No ClinGen
Ensembl
CA214162307
rs751651440
1192 P>L No ClinGen
TOPMed
rs1270332963
CA378279049
1193 R>Q No ClinGen
TOPMed
gnomAD
CA5713056
COSM427136
rs771425860
1198 S>L Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5713055
rs538619754
1199 E>G No ClinGen
1000Genomes
ExAC
gnomAD
rs773874233
CA5713054
1201 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1181463664
CA378278906
1203 W>C No ClinGen
TOPMed
rs1336390719
CA378278890
1204 D>G No ClinGen
gnomAD
rs772415756
CA5713053
1204 D>N No ClinGen
ExAC
gnomAD
CA5713052
rs747731853
1205 R>K No ClinGen
ExAC
gnomAD
rs1401546935
CA378278854
1206 E>G No ClinGen
gnomAD
CA378278861
rs1411162993
1206 E>K No ClinGen
TOPMed
CA214162235
rs1000427843
1207 K>E No ClinGen
TOPMed
CA378278817
rs768415718
1208 E>K No ClinGen
ExAC
gnomAD
CA5713050
rs768415718
1208 E>Q No ClinGen
ExAC
gnomAD
CA5713048
rs748938813
1209 R>S No ClinGen
ExAC
gnomAD
CA5713047
rs779619328
1210 D>E No ClinGen
ExAC
gnomAD
rs904784348
CA214162198
1210 D>H No ClinGen
TOPMed
CA5713046
rs755920883
1211 R>K No ClinGen
ExAC
gnomAD
rs750170136
CA5713045
1212 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA378278679
rs756916885
1216 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs979442279
CA378278672
1216 R>L No ClinGen
TOPMed
rs979442279
CA214162145
1216 R>Q No ClinGen
TOPMed
CA5713044
rs756916885
1216 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs972766859 1218 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1218 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5713041
rs765226054
1220 D>G No ClinGen
ExAC
gnomAD
rs752873980
CA5713042
1220 D>N No ClinGen
ExAC
gnomAD
CA5713040
rs372256456
1223 P>S No ClinGen
ESP
ExAC
gnomAD
rs62636533
CA378278489
1227 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs62636533
CA378278486
1227 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1282253553
CA378278404
1230 E>Q No ClinGen
gnomAD
CA5713037
rs761147859
1232 D>E No ClinGen
ExAC
gnomAD
rs1348087146
CA378278308
1234 D>H No ClinGen
TOPMed
CA5713035
rs372153021
1235 R>Q No ClinGen
ESP
ExAC
gnomAD
CA5713034
rs768115339
1237 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA378278192
rs1398665610
1238 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA378278102
rs1406527803
1242 P>A No ClinGen
gnomAD
CA5712999
rs750616860
1244 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA5712997
rs757589056
1246 G>D No ClinGen
ExAC
gnomAD
CA5712998
rs781420362
1246 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1248 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378277468
rs1381458582
1252 P>L No ClinGen
TOPMed
CA5712996
rs751916228
1254 E>Q No ClinGen
ExAC
gnomAD
rs1209489108
CA378277417
1256 S>P No ClinGen
gnomAD
CA378277332
rs1354455378
1261 D>E No ClinGen
gnomAD
CA5712993
rs61729183
1262 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367880512
CA5712992
1262 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs61729183
CA378277330
1262 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1359438745
CA378277317
1263 S>R No ClinGen
gnomAD
CA5712990
rs375737679
1264 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375737679
CA5712989
1264 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs938443375
CA214160671
1264 R>H No ClinGen
TOPMed
CA214160654
rs938443375
1264 R>L No ClinGen
TOPMed
rs1174804378
CA378277282
1265 R>Q No ClinGen
TOPMed
gnomAD
CA378277286
rs1356900239
1265 R>W No ClinGen
TOPMed
gnomAD
COSM1627337
rs371292579
CA5712986
1267 D>N liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
rs371292579
CA378277269
1267 D>Y No ClinGen
ESP
ExAC
gnomAD
rs1372198669
CA378277254
1269 D>G No ClinGen
TOPMed
gnomAD
rs773789741
CA214160628
1269 D>H No ClinGen
Ensembl
CA5712984
rs575153277
1270 R>W No ClinGen
1000Genomes
ExAC
gnomAD
CA214160608
rs977098875
1272 D>H No ClinGen
Ensembl
CA5712983
rs769778705
COSM3741516
1273 R>C liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA378277227
rs769778705
1273 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5712982
rs745913298
1274 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5712981
rs368318464
1274 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1717040
rs757474711
CA378277218
1275 R>C NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs757474711
CA5712980
1275 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs751921377
CA5712979
1275 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5712978
rs778100804
1276 E>D No ClinGen
ExAC
rs556140038
CA5712977
1277 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA378277200
rs1217401144
1278 D>Y No ClinGen
gnomAD
CA378277192
rs1340291542
1279 D>Y No ClinGen
gnomAD
CA378277185
rs1397394876
1280 R>Q No ClinGen
gnomAD
CA5712976
rs373914277
1280 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765681749
CA5712974
1281 R>C No ClinGen
ExAC
gnomAD
rs758996792
CA5712973
1281 R>H No ClinGen
ExAC
TOPMed
CA5712972
rs144110377
1282 D>A No ClinGen
ESP
ExAC
TOPMed
rs765995915
CA5712971
1282 D>E No ClinGen
ExAC
CA5712970
rs139392109
1283 L>V No ClinGen
ESP
ExAC
TOPMed
CA214160540
rs986470247
1285 E>K No ClinGen
Ensembl
rs773207250
CA5712969
1287 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5712968
rs771994561
1288 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs761644603
CA5712967
1289 L>I No ClinGen
ExAC
gnomAD
rs774454537
CA378277118
1291 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs768599574
CA5712965
1292 D>N No ClinGen
ExAC
gnomAD
CA5712964
rs745975112
1294 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 1297 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1425741135
COSM347391
CA378277066
1299 P>L lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1166686643
CA378277071
1299 P>S No ClinGen
gnomAD
rs1256239115
CA378277061
1300 L>P No ClinGen
TOPMed
CA5712962
rs771120379
1302 S>P No ClinGen
ExAC
gnomAD
rs747229908
CA5712961
1303 E>Q No ClinGen
ExAC
gnomAD
rs777907958
CA5712960
1303 E>V No ClinGen
ExAC
gnomAD
CA5712959
rs548083661
1304 R>C No ClinGen
ExAC
gnomAD
CA378277039
COSM1346089
rs1484391111
1304 R>H liver large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA5712958
rs748468977
1305 E>K No ClinGen
ExAC
gnomAD
rs1389706388
CA378276997
1308 S>R No ClinGen
gnomAD
CA378276993
rs1345089132
1309 S>F No ClinGen
TOPMed
rs762591865
CA5712906
1309 S>T No ClinGen
ExAC
gnomAD
CA378276991
rs1345089132
1309 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1198102384
CA378276986
1310 W>S No ClinGen
TOPMed
CA5712905
rs775513192
1312 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA378276962
rs1156852412
1314 D>N No ClinGen
TOPMed
gnomAD
rs1437626830
CA378276951
1315 D>G No ClinGen
TOPMed
TCGA novel 1316 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs192094747
CA5712899
COSM1284713
1320 R>G Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5712898
rs769076103
1320 R>Q No ClinGen
ExAC
gnomAD
rs192094747
CA5712900
1320 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5712896
rs780643908
1323 E>A No ClinGen
ExAC
gnomAD
CA5712897
rs146276916
1323 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1345108493
CA378276833
1324 R>Q No ClinGen
gnomAD
CA5712895
rs770393981
1324 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1368189119
CA378276812
1325 D>V No ClinGen
gnomAD
rs569387973
CA214159418
1326 P>S No ClinGen
TOPMed
gnomAD
CA5712894
rs141499066
1327 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757041285
CA5712893
COSM232238
1328 R>C skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA5712892
rs757041285
1328 R>G No ClinGen
ExAC
gnomAD
rs1435304837
CA378276767
1328 R>H No ClinGen
gnomAD
CA5712891
rs751232721
1329 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs541720445
CA214159407
1329 R>P No ClinGen
1000Genomes
TOPMed
gnomAD
TCGA novel 1330 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5712890
COSM1739699
rs202161257
1330 V>F haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs758241791
CA5712889
1332 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs373800925
CA5712887
1333 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373800925
CA378276701
1333 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374146406
CA5712888
1333 P>S No ClinGen
ESP
ExAC
gnomAD
rs1464950776
CA378276688
1334 A>P No ClinGen
gnomAD
rs1324744346
CA378276678
1334 A>V No ClinGen
TOPMed
CA5712882
rs766037789
1336 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5712885
rs750568100
1336 S>L No ClinGen
ExAC
gnomAD
CA5712884
rs767588363
1338 D>G No ClinGen
ExAC
gnomAD
rs761822661
CA378275946
1339 R>* No ClinGen
ExAC
gnomAD
rs761822661
CA5712883
1339 R>G No ClinGen
ExAC
gnomAD
CA378275938
rs1261567281
1339 R>L No ClinGen
TOPMed
gnomAD
COSM915311
rs1261567281
CA378275942
1339 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA5712881
rs774654035
1341 R>G No ClinGen
ExAC
gnomAD
rs1589682505
CA378275865
1342 D>G No ClinGen
Ensembl
COSM915310
CA5712879
rs763416725
1343 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5712880
rs763416725
1343 R>G No ClinGen
ExAC
gnomAD
CA378275841
rs1198258688
1343 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs775695722
CA5712875
1345 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5712874
rs770481796
1346 E>D No ClinGen
ExAC
TOPMed
rs1220457851
CA378275710
1348 E>K No ClinGen
gnomAD
rs781738727
CA5712869
1349 G>D No ClinGen
ExAC
gnomAD
CA5712870
rs746376951
1349 G>R No ClinGen
ExAC
gnomAD
CA5712867
rs375661097
1351 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1336176802
CA378275511
1353 K>E No ClinGen
gnomAD
CA5712866
rs777520032
1353 K>N No ClinGen
ExAC
gnomAD
rs915716740
CA214159209
1354 A>S No ClinGen
TOPMed
rs915716740
CA378275479
1354 A>T No ClinGen
TOPMed
rs1405517537
CA378275433
1354 A>V No ClinGen
gnomAD
CA5712865
rs757963072
1355 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA5712863
rs778671067
1362 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA5712862
rs754701550
1364 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs753786295
CA5712861
1366 R>C No ClinGen
ExAC
gnomAD
rs143903271
CA5712859
1366 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5712860
rs143903271
1366 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751564493
CA5712858
1367 R>C No ClinGen
ExAC
gnomAD
CA5712857
COSM915308
rs764426395
1367 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1353305064
CA378274840
1371 E>D No ClinGen
gnomAD
CA5712856
rs578051436
1372 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378274684
rs1271976016
1377 W>* No ClinGen
gnomAD
TCGA novel 1377 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1357250841
CA378274626
COSM915307
1381 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
COSM1251078
rs1271648760
CA378274621
1381 R>Q oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
CA5712854
rs765705109
1382 R>C No ClinGen
ExAC
gnomAD

No associated diseases with Q14152

1 regional properties for Q14152

Type Name Position InterPro Accession
domain Proteasome component (PCI) domain 315 - 506 IPR000717

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

12 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
eukaryotic 43S preinitiation complex A protein complex composed of the 40S ribosomal subunit plus eIF1A, eIF3, and eIF2-GTP-bound methionyl-initiator methionine tRNA.
eukaryotic 48S preinitiation complex A protein complex composed of the small ribosomal subunit, eIF3, eIF1A, methionyl-initiatior methionine and a capped mRNA. The complex is initially positioned at the 5'-end of the capped mRNA.
eukaryotic translation initiation factor 3 complex A complex of several polypeptides that plays at least two important roles in protein synthesis: First, eIF3 binds to the 40S ribosome and facilitates loading of the Met-tRNA/eIF2.GTP ternary complex to form the 43S preinitiation complex. Subsequently, eIF3 apparently assists eIF4 in recruiting mRNAs to the 43S complex. The eIF3 complex contains five conserved core subunits, and may contain several additional proteins; the non-core subunits are thought to mediate association of the complex with specific sets of mRNAs.
eukaryotic translation initiation factor 3 complex, eIF3e An eukaryotic translation initiation factor 3 complex that contains the PCI-domain protein eIF3e.
eukaryotic translation initiation factor 3 complex, eIF3m An eukaryotic translation initiation factor 3 complex that contains the PCI-domain protein eIF3m.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
multi-eIF complex A multifactor complex composed of multiple translation initiation factors and the initiatior tRNAiMet, which is ready to bind to the small (40S) ribosome to form the 43S preinitiation complex. In S. cerevisiae, this complex is composed of eIF1, eIF2, eIF3, and eIF5.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
postsynaptic density An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.

4 GO annotations of molecular function

Name Definition
mRNA binding Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
RNA binding Binding to an RNA molecule or a portion thereof.
structural molecule activity The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.
translation initiation factor activity Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide.

5 GO annotations of biological process

Name Definition
formation of cytoplasmic translation initiation complex Joining of the large subunit, with release of IF2/eIF2 and IF3/eIF3. This leaves the functional ribosome at the AUG, with the methionyl/formyl-methionyl-tRNA positioned at the P site.
IRES-dependent viral translational initiation Process by which viral mRNA translation is initiated, where a domain in the 5' untranslated region (UTR) of the viral mRNA called an internal ribosome entry site (IRES) binds the host 43S preinitiation complex, circumventing regular cap-dependent translation initiation.
translation reinitiation A gene-specific translational control mechanism where the small ribosomal subunit remains attached to the mRNA following termination of translation, then resumes scanning on the same mRNA molecule and initiates again at a downstream start site. Reinitiation depends on de novo recruitment of the ternary complex that is required to recognize the next AUG codon.
translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.
viral translational termination-reinitiation A process which occurs as part of viral mRNA translation which allows expression of a downstream open reading frame (ORF) in a dicistronic mRNA. In this process, ribosomes translate the upstream ORF but following termination, a proportion of 40S subunits remain tethered to the mRNA and go on to re-initiate translation at the start codon of the downstream ORF.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P38249 RPG1 Eukaryotic translation initiation factor 3 subunit A Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q9XHR2 TIF3A1 Eukaryotic translation initiation factor 3 subunit A Zea mays (Maize) PR
P23116 Eif3a Eukaryotic translation initiation factor 3 subunit A Mus musculus (Mouse) PR
Q9LD55 TIF3A1 Eukaryotic translation initiation factor 3 subunit A Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MPAYFQRPEN ALKRANEFLE VGKKQPALDV LYDVMKSKKH RTWQKIHEPI MLKYLELCVD
70 80 90 100 110 120
LRKSHLAKEG LYQYKNICQQ VNIKSLEDVV RAYLKMAEEK TEAAKEESQQ MVLDIEDLDN
130 140 150 160 170 180
IQTPESVLLS AVSGEDTQDR TDRLLLTPWV KFLWESYRQC LDLLRNNSRV ERLYHDIAQQ
190 200 210 220 230 240
AFKFCLQYTR KAEFRKLCDN LRMHLSQIQR HHNQSTAINL NNPESQSMHL ETRLVQLDSA
250 260 270 280 290 300
ISMELWQEAF KAVEDIHGLF SLSKKPPKPQ LMANYYNKVS TVFWKSGNAL FHASTLHRLY
310 320 330 340 350 360
HLSREMRKNL TQDEMQRMST RVLLATLSIP ITPERTDIAR LLDMDGIIVE KQRRLATLLG
370 380 390 400 410 420
LQAPPTRIGL INDMVRFNVL QYVVPEVKDL YNWLEVEFNP LKLCERVTKV LNWVREQPEK
430 440 450 460 470 480
EPELQQYVPQ LQNNTILRLL QQVSQIYQSI EFSRLTSLVP FVDAFQLERA IVDAARHCDL
490 500 510 520 530 540
QVRIDHTSRT LSFGSDLNYA TREDAPIGPH LQSMPSEQIR NQLTAMSSVL AKALEVIKPA
550 560 570 580 590 600
HILQEKEEQH QLAVTAYLKN SRKEHQRILA RRQTIEERKE RLESLNIQRE KEELEQREAE
610 620 630 640 650 660
LQKVRKAEEE RLRQEAKERE KERILQEHEQ IKKKTVRERL EQIKKTELGA KAFKDIDIED
670 680 690 700 710 720
LEELDPDFIM AKQVEQLEKE KKELQERLKN QEKKIDYFER AKRLEEIPLI KSAYEEQRIK
730 740 750 760 770 780
DMDLWEQQEE ERITTMQLER EKALEHKNRM SRMLEDRDLF VMRLKAARQS VYEEKLKQFE
790 800 810 820 830 840
ERLAEERHNR LEERKRQRKE ERRITYYREK EEEEQRRAEE QMLKEREERE RAERAKREEE
850 860 870 880 890 900
LREYQERVKK LEEVERKKRQ RELEIEERER RREEERRLGD SSLSRKDSRW GDRDSEGTWR
910 920 930 940 950 960
KGPEADSEWR RGPPEKEWRR GEGRDEDRSH RRDEERPRRL GDDEDREPSL RPDDDRVPRR
970 980 990 1000 1010 1020
GMDDDRGPRR GPEEDRFSRR GADDDRPSWR NTDDDRPPRR IADEDRGNWR HADDDRPPRR
1030 1040 1050 1060 1070 1080
GLDEDRGSWR TADEDRGPRR GMDDDRGPRR GGADDERSSW RNADDDRGPR RGLDDDRGPR
1090 1100 1110 1120 1130 1140
RGMDDDRGPR RGMDDDRGPR RGMDDDRGPR RGLDDDRGPW RNADDDRIPR RGAEDDRGPW
1150 1160 1170 1180 1190 1200
RNMDDDRLSR RADDDRFPRR GDDSRPGPWR PLVKPGGWRE KEKAREESWG PPRESRPSEE
1210 1220 1230 1240 1250 1260
REWDREKERD RDNQDREEND KDPERERDRE RDVDREDRFR RPRDEGGWRR GPAEESSSWR
1270 1280 1290 1300 1310 1320
DSSRRDDRDR DDRRRERDDR RDLRERRDLR DDRDRRGPPL RSEREEVSSW RRADDRKDDR
1330 1340 1350 1360 1370 1380
VEERDPPRRV PPPALSRDRE RDRDREREGE KEKASWRAEK DRESLRRTKN ETDEDGWTTV
RR