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 Q6R2W3

Entry ID Method Resolution Chain Position Source
AF-Q6R2W3-F1 Predicted AlphaFoldDB

865 variants for Q6R2W3

Variant ID(s) Position Change Description Diseaes Association Provenance
rs770350324
CA3685607
2 E>V No ClinGen
ExAC
gnomAD
CA135894557
rs958315702
4 V>I No ClinGen
TOPMed
rs1030959535
CA135894529
7 V>I No ClinGen
TOPMed
gnomAD
rs777014935
CA3685605
9 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs373132271
CA3685604
10 A>V No ClinGen
ESP
ExAC
gnomAD
CA362952490
rs1369920991
11 L>W No ClinGen
TOPMed
CA3685602
COSM3430420
rs777450959
12 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs151037202
CA3685601
13 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362952455
rs1465580721
15 A>T No ClinGen
gnomAD
CA3685599
rs778226085
18 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1251431620 21 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 21 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1316450734
CA362952369
22 I>T No ClinGen
gnomAD
CA3685598
rs754969254
29 E>D No ClinGen
ExAC
gnomAD
CA362952292
rs1226681300
29 E>V No ClinGen
TOPMed
TCGA novel 30 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1562042069
CA362952267
31 D>E No ClinGen
Ensembl
rs1365611632
CA362952251
33 T>P No ClinGen
gnomAD
CA3685595
rs766299245
36 Q>* No ClinGen
ExAC
gnomAD
CA362952201
rs1344153286
37 E>K No ClinGen
gnomAD
CA362952200
rs1344153286
37 E>Q No ClinGen
gnomAD
rs375224581
CA3685594
37 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362952178
rs1272191869
39 A>T No ClinGen
TOPMed
rs906782517
CA135894415
40 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 40 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685591
rs764369384
41 R>H No ClinGen
ExAC
gnomAD
rs1025112362
CA135894414
42 R>K No ClinGen
TOPMed
TCGA novel 43 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1172572725
CA362952129
45 S>F No ClinGen
gnomAD
CA362952124
rs1187278442
46 Y>C No ClinGen
gnomAD
rs752829293
CA3685589
46 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA3685587
rs760061189
47 T>I No ClinGen
ExAC
gnomAD
rs765264362
CA3685588
47 T>P No ClinGen
ExAC
gnomAD
rs200336287
COSM3410874
CA135894330
52 R>H Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
rs1279918472
CA362952070
54 R>H No ClinGen
gnomAD
rs1229374802
CA362952068
55 F>L No ClinGen
gnomAD
CA3685584
rs771326238
56 R>G No ClinGen
ExAC
gnomAD
CA3685581
rs771771243
59 C>* No ClinGen
ExAC
gnomAD
rs761023877
CA3685583
59 C>G No ClinGen
ExAC
gnomAD
rs771771243
CA362952035
59 C>W No ClinGen
ExAC
gnomAD
rs772799657
CA3685582
59 C>Y No ClinGen
ExAC
gnomAD
rs1449608730
CA362952030
60 Y>C No ClinGen
gnomAD
CA135894317
rs1048585259
62 E>K No ClinGen
TOPMed
gnomAD
rs931069099
CA135894316
63 T>A No ClinGen
TOPMed
rs1429970589
CA362951978
64 P>S No ClinGen
gnomAD
rs768231448
CA3685578
67 R>K No ClinGen
ExAC
gnomAD
rs1184068245
CA362951910
67 R>S No ClinGen
gnomAD
CA362951889
rs974726070
68 E>D No ClinGen
TOPMed
CA3685577
rs749282151
71 S>G No ClinGen
ExAC
gnomAD
rs1293360820
CA362951800
73 L>Q No ClinGen
TOPMed
rs1341797188
CA362951746
78 R>C No ClinGen
TOPMed
rs780105278
CA3685576
78 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs780105278
CA362951736
78 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA135894269
rs866296527
79 Q>* No ClinGen
Ensembl
CA3685575
rs200111516
80 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1332178592
CA362951714
80 W>* No ClinGen
TOPMed
CA362951678
rs1272673216
83 P>A No ClinGen
gnomAD
rs1397101555
CA362951670
83 P>Q No ClinGen
gnomAD
rs201936576
CA3685574
85 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1485747489
CA362951622
87 T>A No ClinGen
TOPMed
TCGA novel 89 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758680442
CA3685572
89 E>K No ClinGen
ExAC
gnomAD
CA3685571
rs752816648
90 Q>* No ClinGen
ExAC
gnomAD
rs1372025581
CA362951554
92 L>P No ClinGen
gnomAD
TCGA novel 94 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765350328
CA3685569
97 L>V No ClinGen
ExAC
gnomAD
CA3685568
rs759584881
98 E>* No ClinGen
ExAC
gnomAD
rs759584881
CA362951492
98 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3685567
rs754412937
99 Q>R No ClinGen
ExAC
gnomAD
rs1170257366
CA362951433
102 T>I No ClinGen
gnomAD
CA362951403
rs1264506273
105 P>R No ClinGen
TOPMed
rs1478460432
CA362951381
107 E>* No ClinGen
TOPMed
CA362951362
rs1417329933
107 E>D No ClinGen
gnomAD
CA362951351
rs1475622889
108 L>H No ClinGen
gnomAD
CA362951344
rs766860943
109 Q>P No ClinGen
ExAC
gnomAD
CA3685566
rs766860943
109 Q>R No ClinGen
ExAC
gnomAD
rs1187268644
CA362951328
111 W>C No ClinGen
TOPMed
rs761032698
CA3685565
111 W>G No ClinGen
ExAC
gnomAD
rs201333721
CA3685564
112 V>L No ClinGen
ESP
ExAC
gnomAD
COSM1077170
rs1223749050
CA362951320
113 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs142753390
CA3685562
113 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA135894179
rs1029963836
114 E>D No ClinGen
Ensembl
CA135894186
rs943962836
114 E>K No ClinGen
TOPMed
TCGA novel 114 E>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761545484
CA3685561
115 H>R No ClinGen
ExAC
gnomAD
CA3685560
rs773848453
117 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA3685559
rs768321337
126 L>F No ClinGen
ExAC
rs912453497
CA135894131
129 D>N No ClinGen
TOPMed
rs1351746913
CA362951166
130 L>F No ClinGen
gnomAD
rs1287001510
CA362951141
132 R>M No ClinGen
TOPMed
CA135894129
rs892130831
133 E>* No ClinGen
gnomAD
rs1233556529
CA362951126
133 E>V No ClinGen
gnomAD
CA3685557
rs544592187
134 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA3685556
rs769865059
135 D>V No ClinGen
ExAC
gnomAD
CA362951098
rs1460139353
136 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3685554
rs781064910
138 R>K No ClinGen
ExAC
gnomAD
CA362951048
rs1562041653
139 Q>R No ClinGen
Ensembl
CA362950355
rs1321858017
141 V>F No ClinGen
gnomAD
rs1158065942
CA362950250
147 G>V No ClinGen
gnomAD
rs868838585
CA135890047
149 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs778255411
CA135890040
150 V>I No ClinGen
TOPMed
gnomAD
rs866561916
CA135890024
152 M>I No ClinGen
Ensembl
rs1379603191
CA362950201
152 M>V No ClinGen
TOPMed
gnomAD
CA3685540
rs368592703
153 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs409029
CA3685539
VAR_027012
155 M>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs769139642
CA3685538
159 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1026054382
CA135889992
160 S>F No ClinGen
Ensembl
rs1347929876
CA362950086
160 S>T No ClinGen
TOPMed
rs1189204862
CA362950069
161 A>E No ClinGen
gnomAD
CA362950020
rs1562037301
165 L>F No ClinGen
Ensembl
CA3685535
rs561089497
167 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3685534
rs756510174
168 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA362949974
rs1362164781
169 L>F No ClinGen
TOPMed
rs746770904
CA3685533
170 Q>* No ClinGen
ExAC
gnomAD
CA362949956
rs1347679152
171 S>T No ClinGen
gnomAD
CA3685532
rs777490415
172 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA362949860
rs1330699998
177 E>G No ClinGen
gnomAD
CA3685530
rs146345821
178 C>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142014967
CA3685529
178 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3685528
rs756122575
179 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1038956223
CA135889938
179 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1404394053
CA362949807
181 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA3685526
rs368148700
184 H>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368148700
CA3685527
184 H>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755514469
CA135889913
CA362949763
184 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA135889926
rs1007399822
184 H>Y No ClinGen
TOPMed
gnomAD
rs373859131
CA135889906
185 P>A No ClinGen
ESP
TOPMed
gnomAD
CA3685524
rs751984170
185 P>R No ClinGen
ExAC
gnomAD
CA362949732
rs1416290438
187 Q>H No ClinGen
TOPMed
TCGA novel 188 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362949719
rs1442531385
189 N>S No ClinGen
gnomAD
CA3685515
rs746884939
190 G>E No ClinGen
ExAC
gnomAD
TCGA novel 190 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1258983360
CA362949712
190 G>W No ClinGen
gnomAD
CA362949695
rs1185171727
191 S>L No ClinGen
gnomAD
CA3685514
rs369663166
191 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3685512
rs749558688
199 S>T No ClinGen
ExAC
gnomAD
TCGA novel 200 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362949611
rs1199935785
202 M>T No ClinGen
TOPMed
rs1206136668
CA362949593
205 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 211 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362949518
rs1467676703
211 D>V No ClinGen
TOPMed
rs1248165868
CA362949507
212 T>I No ClinGen
TOPMed
CA362949489
rs1581892785
214 E>G No ClinGen
Ensembl
CA3685511
rs780104784
218 E>V No ClinGen
ExAC
gnomAD
CA362949440
rs1211029143
219 P>A No ClinGen
gnomAD
CA362949441
rs1211029143
219 P>S No ClinGen
gnomAD
CA135888237
rs760474088
220 E>Q No ClinGen
gnomAD
CA3685510
rs139935830
222 M>L No ClinGen
ESP
ExAC
gnomAD
TCGA novel 223 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1467673237
CA362949389
223 R>S No ClinGen
TOPMed
CA135888201
rs371210439
223 R>T No ClinGen
ESP
TOPMed
CA3685509
rs745922884
225 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1393804418
CA362949336
228 R>K No ClinGen
TOPMed
CA135888172
rs986833376
231 A>P No ClinGen
TOPMed
CA3685508
rs376666912
232 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440258855
CA362949237
238 S>G No ClinGen
TOPMed
gnomAD
CA3685506
rs371351534
238 S>T No ClinGen
ESP
ExAC
gnomAD
rs752452643
CA362949208
240 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1405675169
CA362949203
241 T>A No ClinGen
gnomAD
rs758806235
CA3685504
241 T>I No ClinGen
ExAC
gnomAD
CA362949188
rs1162643056
242 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3685503
rs752464562
243 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs752464562
CA362949183
243 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA362949158
rs1412022508
245 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3685502
rs764788172
247 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1333514268
CA362949103
251 Q>R No ClinGen
TOPMed
rs185674931
CA3685500
252 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362949093
rs1200040002
253 I>L No ClinGen
gnomAD
TCGA novel 256 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760625203
CA3685498
256 V>M No ClinGen
ExAC
gnomAD
CA362949054
rs1213577647
258 E>G No ClinGen
gnomAD
CA362949057
rs996717352
258 E>K No ClinGen
TOPMed
gnomAD
CA135888105
rs996717352
258 E>Q No ClinGen
TOPMed
gnomAD
CA3685497
rs773108731
259 A>T No ClinGen
ExAC
gnomAD
rs373418471
CA3685496
263 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373418471
COSM1319122
CA362949002
263 A>V Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3685493
rs775839865
266 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1441398749
CA362948953
267 S>P No ClinGen
gnomAD
rs1372861243
CA362948935
268 V>A No ClinGen
gnomAD
CA362948905
rs1345329242
270 Y>* No ClinGen
gnomAD
CA362948909
rs1440053075
270 Y>C No ClinGen
gnomAD
CA135888032
rs998813719
271 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs769921503
CA3685491
COSM1496316
271 R>H kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs200083378
CA135888030
272 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs746033700
CA3685490
281 V>E No ClinGen
ExAC
gnomAD
CA135888028
rs1000971684
281 V>I No ClinGen
TOPMed
rs1193619647
CA362948763
283 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA362948751
rs1244274375
284 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3685489
rs781160168
284 N>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 285 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362948737
rs1316557206
285 E>G No ClinGen
TOPMed
CA135888024
rs371868572
285 E>K No ClinGen
ESP
CA3685488
rs771115235
286 K>N No ClinGen
ExAC
gnomAD
rs747560441
CA3685487
288 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA3685485
rs758890813
290 A>V No ClinGen
ExAC
gnomAD
CA3685484
rs759614062
293 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1160608210
CA362948637
294 E>* No ClinGen
gnomAD
rs757103662 294 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA3685479
rs375395139
296 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754620574
CA3685481
296 D>G No ClinGen
ExAC
gnomAD
rs999282193
CA135887950
297 K>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA135887939
rs1055423005
299 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs760144567
CA3685478
299 R>W No ClinGen
ExAC
gnomAD
rs1581892208
CA362948528
303 H>N No ClinGen
Ensembl
CA362948501
rs767425005
304 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA362948486
rs1485608358
305 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs761681576
CA3685475
306 D>G No ClinGen
ExAC
gnomAD
CA3685474
rs774020117
307 L>V No ClinGen
ExAC
gnomAD
rs1257370499
CA362948454
308 F>S No ClinGen
TOPMed
rs1474530825
CA362948448
309 D>N No ClinGen
TOPMed
rs903639192
CA135887869
309 D>V No ClinGen
gnomAD
rs768456437
CA3685473
312 H>R No ClinGen
ExAC
gnomAD
rs759406637
CA135887859
313 N>D No ClinGen
Ensembl
TCGA novel 313 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362948360
rs1449624597
316 L>F No ClinGen
Ensembl
rs759726961
CA3685472
317 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA3685471
rs776883621
318 I>T No ClinGen
ExAC
gnomAD
CA3685469
rs371350479
320 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3685468
rs550481256
323 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs772714508
CA3685467
323 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs748650522
CA3685466
325 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3685465
rs779170818
325 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA362948297
rs779170818
325 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs755344120
CA3685464
326 M>I No ClinGen
ExAC
gnomAD
CA362948255
rs1356610828
331 Q>* No ClinGen
gnomAD
rs1169018629
CA362948246
COSM375091
332 A>V lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs779673023
CA3685462
334 Y>* No ClinGen
ExAC
gnomAD
CA135887795
rs947768579
335 K>E No ClinGen
TOPMed
gnomAD
rs755675151
CA3685461
338 T>I No ClinGen
ExAC
gnomAD
CA362948177
rs1183125354
342 I>L No ClinGen
gnomAD
rs1183125354
CA362948178
342 I>V No ClinGen
gnomAD
CA362948166
rs1480862945
343 M>I No ClinGen
gnomAD
CA3685459
rs766946778
343 M>V No ClinGen
ExAC
TOPMed
rs1280952360
CA362948137
348 L>F No ClinGen
gnomAD
TCGA novel 356 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs367554363
CA3685456
358 K>E No ClinGen
ESP
ExAC
gnomAD
rs144011793
CA3685455
359 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144011793
CA3685454
359 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 363 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA135887684
rs920913397
367 S>L No ClinGen
TOPMed
CA3685452
rs374821729
368 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs866308071
CA135887680
370 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs760916497
CA135887672
372 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA3685450
rs760916497
372 S>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 373 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362947857
rs1562034219
374 R>* No ClinGen
Ensembl
rs1167680955
CA362947794
379 L>V No ClinGen
gnomAD
CA362947780
rs762661768
380 I>R No ClinGen
TOPMed
gnomAD
rs762661768
CA135887667
380 I>T No ClinGen
TOPMed
gnomAD
rs564571708
CA3685448
382 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs146240881
CA3685447
383 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362947708
rs1581891728
386 P>T No ClinGen
Ensembl
CA362947651
rs1457119178
391 R>G No ClinGen
gnomAD
CA362947645
rs1253581700
391 R>I No ClinGen
gnomAD
TCGA novel 391 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA135887640
rs975332566
391 R>S No ClinGen
TOPMed
TCGA novel 392 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685446
rs774887211
395 H>R No ClinGen
ExAC
gnomAD
TCGA novel 397 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866166600
CA135887623
397 Q>P No ClinGen
Ensembl
rs749647571
CA3685443
398 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA3685445
rs768966129
398 D>H No ClinGen
ExAC
gnomAD
TCGA novel 398 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs941196760
CA135887602
399 L>F No ClinGen
Ensembl
rs112217331
CA135887601
401 T>A No ClinGen
Ensembl
CA362947478
rs1304350780
401 T>R No ClinGen
TOPMed
gnomAD
rs752273361
CA3685442
404 T>S No ClinGen
ExAC
gnomAD
rs185476387
CA3685437
407 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs866662971
CA135887569
407 R>W No ClinGen
gnomAD
CA3685436
rs751519787
412 K>E No ClinGen
ExAC
gnomAD
rs557568739
CA3685435
415 T>M No ClinGen
1000Genomes
ExAC
gnomAD
rs138636417
CA135887562
417 V>I No ClinGen
ESP
TOPMed
rs765088315
CA362947151
419 H>P No ClinGen
ExAC
gnomAD
CA3685432
rs765088315
419 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA362947119
rs1257038169
421 L>F No ClinGen
TOPMed
CA362947090
rs1195486893
423 D>V No ClinGen
gnomAD
CA135887561
rs1033666951
426 T>R No ClinGen
TOPMed
gnomAD
CA3685431
rs761002813
428 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA3685430
rs773549282
429 G>E No ClinGen
ExAC
gnomAD
rs767742393
CA3685429
430 A>T No ClinGen
ExAC
gnomAD
rs1349118678
CA362947012
432 S>G No ClinGen
gnomAD
rs1306073049
CA362947010
432 S>N No ClinGen
gnomAD
CA3685427
rs774775040
433 V>I No ClinGen
ExAC
gnomAD
CA362946993
rs1370922547
435 Q>* No ClinGen
gnomAD
CA135887531
rs1002468162
435 Q>P No ClinGen
TOPMed
CA135887522
rs267600930
436 S>F No ClinGen
Ensembl
CA3685426
rs769216803
438 N>S No ClinGen
ExAC
gnomAD
CA362946948
rs1382847567
441 E>D No ClinGen
gnomAD
COSM164189
CA362946927
rs1288566361
444 S>R breast [Cosmic] No ClinGen
cosmic curated
gnomAD
rs368184338
CA3685424
445 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3685425
rs368184338
445 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1395530377
CA362946911
447 V>F No ClinGen
gnomAD
rs1395530377
CA362946913
447 V>I No ClinGen
gnomAD
rs746429038
CA135887498
453 I>T No ClinGen
TOPMed
gnomAD
TCGA novel 453 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1581891280
CA362946860
454 W>* No ClinGen
Ensembl
rs745568755
CA3685422
454 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA362946850
rs1377032378
455 P>L No ClinGen
gnomAD
TCGA novel 456 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685420
rs770407328
461 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs777082620
CA3685418
463 K>N No ClinGen
ExAC
gnomAD
CA3685417
rs758395687
464 S>A No ClinGen
ExAC
gnomAD
CA135887465
rs1031917813
464 S>Y No ClinGen
gnomAD
rs1344707009
CA362946784
465 Q>H No ClinGen
gnomAD
CA3685416
rs41270593
VAR_061703
465 Q>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3685414
rs754792535
467 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1168506788
CA362946743
471 S>C No ClinGen
TOPMed
CA3685413
rs376727708
472 S>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3685409
rs200493151
480 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763539074
CA3685408
480 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1388841226
CA362946677
481 K>E No ClinGen
TOPMed
CA3685407
rs775952071
481 K>M No ClinGen
ExAC
gnomAD
rs1051313452
CA135887416
485 S>C No ClinGen
TOPMed
gnomAD
rs776922995
CA3685404
487 M>I No ClinGen
ExAC
gnomAD
CA3685403
rs770622275
490 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs151305850
CA3685402
491 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362946603
rs1259224285
491 N>S No ClinGen
gnomAD
TCGA novel 493 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770949657
CA3685398
494 H>R No ClinGen
ExAC
gnomAD
CA3685399
rs748139014
494 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA3685397
rs754876151
495 W>* No ClinGen
ExAC
gnomAD
CA3685396
rs753695405
497 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA362946559
rs1489605733
498 F>I No ClinGen
TOPMed
rs897120207
CA135887343
499 L>F No ClinGen
Ensembl
rs1267759283
CA362946546
500 W>R No ClinGen
TOPMed
CA3685393
rs751683471
501 F>L No ClinGen
ExAC
gnomAD
rs1414384320
CA362946534
501 F>S No ClinGen
gnomAD
CA362946250
rs1329299227
509 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA362946251
rs1329299227
509 P>R No ClinGen
TOPMed
gnomAD
rs267600929
CA135887304
509 P>S No ClinGen
Ensembl
rs762987939
CA3685390
514 M>T No ClinGen
ExAC
gnomAD
CA362946210
rs1461548057
515 Q>K No ClinGen
gnomAD
TCGA novel 515 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753262940
CA3685389
517 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 517 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765749262
CA3685388
518 P>A No ClinGen
ExAC
gnomAD
CA3685387
rs759969184
518 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA135887244
rs925836938
519 C>Y No ClinGen
TOPMed
rs941227808
CA135887243
522 A>T No ClinGen
Ensembl
TCGA novel 522 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685385
rs771155248
523 F>L No ClinGen
ExAC
gnomAD
rs1238135484
CA362946137
525 S>F No ClinGen
TOPMed
gnomAD
rs1214838755
CA362946135
526 E>Q No ClinGen
gnomAD
CA362946131
rs1562033313
526 E>V No ClinGen
Ensembl
rs200974575
CA3685384
527 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362946093
rs1361686923
532 S>C No ClinGen
TOPMed
rs1227744849
CA362946063
537 T>A No ClinGen
gnomAD
CA3685382
rs771683030
538 E>K No ClinGen
ExAC
gnomAD
rs1281437563
CA362946046
539 E>V No ClinGen
gnomAD
CA3685381
rs762657554
541 V>A No ClinGen
ExAC
gnomAD
CA362946037
rs1444146624
541 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1444146624
CA362946036
541 V>L No ClinGen
gnomAD
rs773937865
CA3685380
543 S>N No ClinGen
ExAC
gnomAD
rs12193707
CA135887219
543 S>R No ClinGen
Ensembl
rs1441531871
CA362946016
544 L>W No ClinGen
gnomAD
TCGA novel 547 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362945979
rs1581890604
549 E>G No ClinGen
Ensembl
CA3685379
rs768715221
550 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 555 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685378
rs373152552
556 E>K No ClinGen
ESP
ExAC
gnomAD
rs779921307
CA3685377
556 E>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 558 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362945916
rs1159899723
558 E>K No ClinGen
gnomAD
CA362945909
rs1232701513
559 N>D No ClinGen
TOPMed
rs777997535
CA3685375
561 L>* No ClinGen
ExAC
gnomAD
rs777997535
CA135887157
561 L>S No ClinGen
ExAC
gnomAD
rs755842509
CA3685376
561 L>V No ClinGen
ExAC
gnomAD
COSM1077159
rs777852841
CA3685374
562 R>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs752780762
CA3685372
563 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1332998480
CA362945880
564 Q>E No ClinGen
gnomAD
CA3685371
rs765262452
564 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs866451020
CA135887104
566 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 567 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1165808028
CA362945853
567 E>D No ClinGen
gnomAD
CA3685370
rs755505254
567 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs754280984
CA3685369
569 I>T No ClinGen
ExAC
gnomAD
CA362945828
rs1562033068
571 T>S No ClinGen
Ensembl
CA135887089
rs967653222
572 G>A No ClinGen
TOPMed
rs967653222
CA362945820
572 G>V No ClinGen
TOPMed
TCGA novel 573 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362945809
rs1478126401
574 D>G No ClinGen
TOPMed
rs1265181705
CA362945813
574 D>N No ClinGen
TOPMed
rs1181252056
CA362945803
575 S>C No ClinGen
TOPMed
rs1308257232
CA362945796
576 S>G No ClinGen
gnomAD
CA135887082
rs1024123074
576 S>R No ClinGen
TOPMed
rs766810900
CA3685366
578 I>T No ClinGen
ExAC
gnomAD
CA135887077
rs1049854045
578 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 580 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs567149204
CA3685364
582 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1418348852
CA362945751
582 L>V No ClinGen
gnomAD
rs992680765
CA135887073
584 V>A No ClinGen
TOPMed
CA362945727
rs1359504265
586 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs761488932
CA3685362
587 K>R No ClinGen
ExAC
gnomAD
CA3685361
rs774026940
589 A>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 590 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685360
rs768231258
590 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1189764003 592 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362945664
rs1300459216
595 E>D No ClinGen
TOPMed
CA362945667
rs1174671812
595 E>G No ClinGen
gnomAD
CA362945656
rs960751056
CA135887024
596 S>R No ClinGen
TOPMed
CA362945651
rs1301664543
597 R>K No ClinGen
TOPMed
rs749285848
CA3685359
599 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1484678340
CA362945633
600 F>S No ClinGen
gnomAD
CA362945623
rs1228964560
601 L>F No ClinGen
TOPMed
rs267600928
CA135887018
602 S>F No ClinGen
Ensembl
CA3685358
rs377354714
603 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1209587239
CA362945610
604 V>I No ClinGen
gnomAD
rs1475812728
CA362945601
605 V>A No ClinGen
gnomAD
CA3685357
rs769697195
605 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA3685356
rs373843219
607 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs932687363
CA362945572
609 E>A No ClinGen
TOPMed
CA135887000
rs932687363
609 E>V No ClinGen
TOPMed
CA135886993
rs143317108
612 G>D No ClinGen
ESP
CA362945554
rs1581890105
612 G>R No ClinGen
Ensembl
CA3685352
rs376105981
613 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754439812
CA3685350
615 S>N No ClinGen
ExAC
gnomAD
rs865851767
CA135886970
616 C>R No ClinGen
Ensembl
CA3685349
rs766785848
616 C>W No ClinGen
ExAC
rs1181955211
CA362945520
617 I>T No ClinGen
TOPMed
CA135886943
rs962696499
622 N>D No ClinGen
TOPMed
CA362945479
rs1362125099
623 I>N No ClinGen
gnomAD
rs1271436330
CA362945446
628 G>R No ClinGen
gnomAD
rs1397524400
CA362945426
631 S>P No ClinGen
TOPMed
gnomAD
CA362945411
rs1317474044
633 H>P No ClinGen
TOPMed
gnomAD
CA3685348
rs750752782
633 H>Q No ClinGen
ExAC
gnomAD
rs1317474044
CA362945410
633 H>R No ClinGen
TOPMed
gnomAD
TCGA novel 634 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1332688410
CA362945393
636 E>K No ClinGen
TOPMed
rs767951243
COSM227495
CA3685346
637 G>S skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1017644371
CA135886929
639 G>S No ClinGen
TOPMed
gnomAD
CA3685344
rs774123229
640 R>Q No ClinGen
ExAC
gnomAD
CA3685345
rs761577088
640 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA362945339
rs1448786052
644 C>W No ClinGen
TOPMed
rs368567492
CA3685342
644 C>Y No ClinGen
ESP
ExAC
gnomAD
rs769624595
CA3685340
646 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1258527312
CA362945280
653 M>V No ClinGen
TOPMed
gnomAD
CA362945266
rs370520
CA362945265
654 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs192789581
CA3685338
655 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs529862162
CA3685337
657 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1276351896
CA362945239
658 D>A No ClinGen
TOPMed
rs1562032557
CA362945229
659 E>D No ClinGen
Ensembl
CA362945235
rs1209082226
659 E>K No ClinGen
gnomAD
rs779106641
CA3685335
660 I>F No ClinGen
ExAC
gnomAD
CA3685336
rs779106641
660 I>L No ClinGen
ExAC
gnomAD
rs114011801
CA3685334
664 L>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754946886
CA135886905
669 S>C No ClinGen
TOPMed
CA362945163
rs754946886
669 S>F No ClinGen
TOPMed
TCGA novel 671 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1377527429
CA362945120
676 G>R No ClinGen
gnomAD
CA3685331
rs149460983
677 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs542386571
CA135886861
678 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
CA135886851
rs1012007599
681 P>L No ClinGen
TOPMed
CA3685330
rs750890929
682 D>H No ClinGen
ExAC
gnomAD
rs781723137
CA3685329
683 K>E No ClinGen
ExAC
TOPMed
CA362945052
rs450630
686 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1034773994
CA135886830
687 W>* No ClinGen
TOPMed
CA135886339
rs901018518
688 M>T No ClinGen
Ensembl
CA362945030
rs1368146817
688 M>V No ClinGen
TOPMed
gnomAD
CA362945018
rs1160057704
689 A>V No ClinGen
gnomAD
CA362944987
rs1176771322
694 L>P No ClinGen
gnomAD
CA3685316
rs768761726
695 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA362944969
rs1289554416
697 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3685315
rs749481956
698 V>F No ClinGen
ExAC
gnomAD
rs1562031803
CA362944955
699 K>E No ClinGen
Ensembl
rs1376129023
CA362944929
702 H>R No ClinGen
gnomAD
CA362944922
rs998682189
703 A>G No ClinGen
TOPMed
gnomAD
rs998682189
CA135886298
703 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 707 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362944887
rs1487198562
708 S>N No ClinGen
gnomAD
CA362944882
rs1191478668
709 S>R No ClinGen
TOPMed
rs1421010078
CA362944871
710 S>N No ClinGen
TOPMed
rs1264536392
CA362944863
711 N>S No ClinGen
gnomAD
rs780017982
CA3685314
715 V>A No ClinGen
ExAC
gnomAD
rs1163549144
CA362944822
717 N>Y No ClinGen
TOPMed
rs749299834
CA3685312
721 P>R No ClinGen
ExAC
gnomAD
TCGA novel 723 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685311
rs781762980
723 E>K No ClinGen
ExAC
gnomAD
rs1445386609
CA362944774
723 E>V No ClinGen
gnomAD
rs903309112
CA135886244
726 T>I No ClinGen
Ensembl
TCGA novel 727 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685310
rs757754219
727 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1306214726
CA362944733
729 V>A No ClinGen
gnomAD
rs1385199375
CA362944717
732 S>G No ClinGen
gnomAD
rs778243531
CA3685308
735 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs751985909
CA3685309
735 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs758010103
CA3685307
737 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA362944672
rs1358786818
738 D>E No ClinGen
gnomAD
rs1327505078
CA362944665
739 P>L No ClinGen
TOPMed
gnomAD
rs1156629960
CA362944663
740 S>P No ClinGen
gnomAD
rs146781571
CA3685305
742 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752375309
CA3685306
742 I>V No ClinGen
ExAC
gnomAD
rs373445500
CA3685303
744 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs894449718
CA135886179
747 V>A No ClinGen
Ensembl
rs1562031552
CA362944582
752 G>D No ClinGen
Ensembl
rs137872757
CA3685302
752 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760535272
CA3685301
754 V>I No ClinGen
ExAC
gnomAD
CA3685299
rs201359181
758 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3685298
rs763130489
758 Q>H No ClinGen
ExAC
CA3685296
rs368697738
765 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1180797926
CA362944451
771 M>I No ClinGen
TOPMed
rs1159510258
CA362944447
772 K>T No ClinGen
TOPMed
gnomAD
rs771597767
CA3685293
773 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1077155
rs747470312
CA3685292
778 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150277871
COSM173896
CA3685291
778 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747825138
CA3685289
781 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1418914824
CA362944380
782 S>* No ClinGen
gnomAD
TCGA novel 783 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362944343
rs1174308088
787 I>R No ClinGen
TOPMed
gnomAD
TCGA novel 788 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA135886105
rs983266022
COSM1077154
794 F>L Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA362944268
rs1193303723
797 R>T No ClinGen
gnomAD
rs756349242
CA135886101
800 S>T No ClinGen
Ensembl
CA3685286
rs748371281
805 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA3685285
rs376518990
807 K>E No ClinGen
ESP
ExAC
gnomAD
CA135886089
rs200971932
808 Q>E No ClinGen
gnomAD
rs200971932
CA362944191
808 Q>K No ClinGen
gnomAD
rs1381489347
CA362944184
809 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA3685283
rs756063944
811 N>D No ClinGen
ExAC
gnomAD
CA3685282
rs563376661
811 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1453637748
CA362944167
811 N>T No ClinGen
TOPMed
CA3685280
rs150565596
812 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1237704087
CA362944146
814 H>Q No ClinGen
TOPMed
rs781012024
CA3685279
815 I>V No ClinGen
ExAC
gnomAD
TCGA novel 819 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685277
rs373276293
819 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3685273
rs747560340
821 R>L No ClinGen
ExAC
gnomAD
CA3685274
rs747560340
821 R>Q No ClinGen
ExAC
gnomAD
COSM1642973
rs199908707
CA3685275
821 R>W Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs564677406
CA3685272
822 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362944101
rs564677406
822 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362944102
rs564677406
822 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362944071
rs1168391333
826 V>A No ClinGen
gnomAD
rs748562566
CA3685270
828 L>F No ClinGen
ExAC
gnomAD
rs142639079
CA135885977
COSM303157
829 P>L Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
rs754652587
CA3685268
831 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs754652587
CA362944047
831 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA362944043
rs1179347946
831 A>V No ClinGen
TOPMed
rs748887749
CA3685267
832 K>R No ClinGen
ExAC
gnomAD
CA135885950
rs201449726
836 P>S No ClinGen
Ensembl
rs755587318
CA3685265
838 T>A No ClinGen
ExAC
gnomAD
rs1456549590
CA362943944
846 D>E No ClinGen
gnomAD
CA362943942
rs1257504256
847 C>R No ClinGen
gnomAD
rs1233906347
CA362943934
848 I>L No ClinGen
gnomAD
rs1233906347
CA362943935
848 I>V No ClinGen
gnomAD
CA135885943
rs964233763
849 K>E No ClinGen
TOPMed
CA135885942
rs201001683
853 L>S No ClinGen
1000Genomes
TOPMed
TCGA novel 857 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 857 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751373949
CA3685261
860 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA362943832
rs1329527480
862 K>N No ClinGen
gnomAD
TCGA novel 863 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362943811
rs1448898280
865 A>V No ClinGen
gnomAD
TCGA novel 866 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362943785
rs1374981736
869 L>P No ClinGen
TOPMed
CA362943779
rs1239972042
870 S>F No ClinGen
gnomAD
CA362943774
rs1330106072
871 N>S No ClinGen
gnomAD
rs763747464
CA362943758
873 T>I No ClinGen
ExAC
gnomAD
CA3685260
rs763747464
873 T>S No ClinGen
ExAC
gnomAD
rs142877647
CA3685259
874 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs541386862
CA3685258
COSM1077153
876 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3685257
rs766635355
877 R>C No ClinGen
ExAC
gnomAD
CA135885929
rs766635355
877 R>G No ClinGen
ExAC
gnomAD
CA3685256
rs572680396
877 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362943737
rs1181136488
878 I>V No ClinGen
gnomAD
CA3685254
rs772641291
882 A>V No ClinGen
ExAC
gnomAD
rs1214427947
CA362943700
883 N>I No ClinGen
TOPMed
gnomAD
rs998713311
CA135885908
885 M>T No ClinGen
TOPMed
CA362943666
rs1324990945
887 D>E No ClinGen
TOPMed
CA362943648
rs1209449103
890 I>T No ClinGen
gnomAD
rs774796991
CA3685252
890 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 891 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685251
rs138676911
893 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369649396
CA135885902
895 L>P No ClinGen
ESP
CA362943606
rs1309719695
896 A>G No ClinGen
TOPMed
gnomAD
CA362943576
rs1241975317
900 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA362943559
rs779674912
903 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA3685248
rs769349447
903 L>R No ClinGen
ExAC
gnomAD
CA3685249
rs779674912
903 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA362943537
rs1432638426
906 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1358322679
CA362943532
907 R>G No ClinGen
gnomAD
rs745394917
CA3685247
908 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3685246
rs780500503
910 A>G No ClinGen
ExAC
gnomAD
CA362943511
rs1189916536
910 A>T No ClinGen
TOPMed
CA3685245
rs757249850
911 N>D No ClinGen
ExAC
gnomAD
rs376579572
CA135885849
912 M>L No ClinGen
ESP
TOPMed
gnomAD
CA3685244
rs751429782
913 I>V No ClinGen
ExAC
gnomAD
rs777751804
CA3685243
914 I>L No ClinGen
ExAC
gnomAD
rs541816467
CA3685242
916 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA362943465
rs1438176441
917 V>F No ClinGen
gnomAD
rs766723549
CA3685240
918 Y>C No ClinGen
ExAC
gnomAD
CA3685241
rs754173115
918 Y>H No ClinGen
ExAC
gnomAD
rs371912682
CA135885790
919 V>M No ClinGen
ESP
TOPMed
gnomAD
CA135885789
rs112370819
920 R>G No ClinGen
Ensembl
TCGA novel 922 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760916515
CA3685238
923 H>R No ClinGen
ExAC
gnomAD
CA3685237
rs750552121
924 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs767442848
CA3685236
926 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 928 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA566284129
rs1491209634
932 F>I No ClinGen
gnomAD
CA3685235
rs762427961
935 A>T No ClinGen
ExAC
gnomAD
CA362943328
rs1266926620
936 S>F No ClinGen
TOPMed
gnomAD
CA362943330
rs1266926620
936 S>Y No ClinGen
TOPMed
gnomAD
rs769073471
CA3685233
938 P>L No ClinGen
ExAC
gnomAD
CA3685232
rs763289698
940 N>S No ClinGen
ExAC
gnomAD
rs1281242264
CA362943300
941 T>S No ClinGen
TOPMed
CA3685231
rs192141084
942 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362943296
rs192141084
942 T>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 944 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362943260
rs1418304434
947 Y>C No ClinGen
gnomAD
rs745470348
CA3685229
950 V>A No ClinGen
ExAC
gnomAD
CA362943230
COSM3430417
rs1261405055
951 K>N large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA362943216
rs1315587404
953 Y>S No ClinGen
TOPMed
rs780803534
CA3685228
CA362943194
956 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA362943190
rs1451334018
957 K>T No ClinGen
TOPMed
rs770317152
CA3685227
958 C>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA362943183
rs1281890003
958 C>Y No ClinGen
TOPMed
gnomAD
rs1265668816
CA362943174
959 G>A No ClinGen
TOPMed
gnomAD
rs1265668816
CA362943175
959 G>D No ClinGen
TOPMed
gnomAD
rs375502311
CA135885701
963 K>E No ClinGen
Ensembl
rs1191755167
CA362943126
966 V>I No ClinGen
gnomAD
CA3685225
rs777841694
968 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA135885697
rs147729602
971 D>A No ClinGen
1000Genomes
gnomAD
rs941909569
CA135885696
973 A>T No ClinGen
TOPMed
gnomAD
rs758355326
CA3685224
974 A>V No ClinGen
ExAC
gnomAD
CA3685223
rs747964848
976 M>V No ClinGen
ExAC
gnomAD
rs778815445
CA3685222
977 T>R No ClinGen
ExAC
gnomAD
CA3685221
rs756385802
979 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA3685220
rs147087175
980 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362943028
rs1450571512
981 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1303806449
CA362943033
981 S>T No ClinGen
gnomAD
rs1357958442
CA362943026
982 E>Q No ClinGen
gnomAD
CA135885672
rs930036685
986 Q>* No ClinGen
TOPMed
CA135885669
rs867739512
989 E>K No ClinGen
Ensembl
rs141069135
CA3685217
991 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150320923
CA3685218
991 A>S No ClinGen
ESP
ExAC
gnomAD
CA3685216
rs141069135
COSM1077149
991 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs976696672
CA135885640
993 E>G No ClinGen
TOPMed
rs1484091009
CA362942930
996 T>I No ClinGen
gnomAD
rs1209317532
CA362942921
998 H>D No ClinGen
gnomAD
CA3685213
rs765536819
998 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs751419889
CA135885632
1002 H>D No ClinGen
TOPMed
gnomAD
CA3685211
rs759273140
1002 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs267600926
CA135885626
1003 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA362942884
rs1294374094
1003 R>Q No ClinGen
TOPMed
rs1312936565
CA362942879
1004 E>A No ClinGen
gnomAD
rs776144995
CA3685210
1006 L>I No ClinGen
ExAC
gnomAD
rs746517243
CA3685208
1007 A>D No ClinGen
ExAC
gnomAD
CA135885621
rs1036552946
1007 A>T No ClinGen
Ensembl
rs369960728
CA362942856
1008 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3685207
rs369960728
1008 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3685206
rs571375385
1009 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA362942846
rs1329415379
1009 K>R No ClinGen
gnomAD
TCGA novel 1010 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685205
rs202191570
1011 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362942826
rs1237083234
1012 S>A No ClinGen
TOPMed
rs754694007
CA3685202
1014 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754694007
CA362942816
1014 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA362942800
rs1562030239
1016 N>S No ClinGen
Ensembl
rs1425068182
CA823648354
1017 S>K No ClinGen
TOPMed
rs1440252678
CA362942791
1017 S>N No ClinGen
gnomAD
CA135885570
rs979415568
1017 S>R No ClinGen
TOPMed
gnomAD
rs968937923
CA135885567
1019 L>F No ClinGen
TOPMed
CA135885566
rs931037978
1022 I>R No ClinGen
Ensembl
rs757440181
CA3685199
1025 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA3685198
rs201118541
1027 N>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3685196
rs200192395
1027 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs959754321
CA135885539
1029 I>M No ClinGen
TOPMed
rs868370764
CA135885532
1033 S>L No ClinGen
Ensembl
rs867873595
CA135885527
1036 S>L No ClinGen
Ensembl
rs377545578
CA135885521
1037 R>G No ClinGen
ESP
TOPMed
rs1320365830
CA362942660
1037 R>I No ClinGen
gnomAD
CA362942661
rs1320365830
1037 R>T No ClinGen
gnomAD
CA3685195
rs535454300
1040 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749944224
CA135885519
1043 C>R No ClinGen
Ensembl
CA135885518
CA3685194
rs145912647
1049 D>E No ClinGen
ESP
ExAC
gnomAD
rs1307661298
CA362942573
1049 D>G No ClinGen
gnomAD
rs1239897307
CA362942568
1050 H>R No ClinGen
TOPMed
rs1295575508
CA362942532
1055 L>P No ClinGen
gnomAD
CA362942527
rs1258849297
1056 H>P No ClinGen
gnomAD
TCGA novel 1058 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776998149
CA3685192
1059 I>V No ClinGen
ExAC
gnomAD
CA3685190
rs760366616
1060 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs765954782
COSM1077148
CA3685191
1060 R>W Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1176675800
CA362942496
1061 W>* No ClinGen
TOPMed
gnomAD
rs146788972
CA3685188
1064 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3685189
rs772875546
1064 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA3685187
rs774422230
1067 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA3685186
rs774422230
1067 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs768550704
CA3685185
1068 L>V No ClinGen
ExAC
gnomAD
CA362942443
rs1361889470
1070 R>T No ClinGen
TOPMed
rs1217851293
CA362942438
1071 M>V No ClinGen
gnomAD
rs1455263971
CA362942426
1072 F>S No ClinGen
TOPMed
CA3685183
rs779833593
1073 E>G No ClinGen
ExAC
gnomAD
TCGA novel 1073 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362942415
rs1159135980
1074 I>L No ClinGen
TOPMed
COSM1077147
CA3685182
rs143546833
1075 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362942406
rs1240047379
COSM3623805
1075 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs149136448
CA3685181
1076 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3777422
CA135885423
rs868501361
1077 E>K Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1303514217
CA362942390
1078 L>F No ClinGen
gnomAD
rs1385102830
CA362942383
1079 L>V No ClinGen
gnomAD
rs1406393337
CA362942373
1080 V>E No ClinGen
TOPMed
CA362942367
rs1367206932
1081 F>S No ClinGen
gnomAD
TCGA novel 1082 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA135885420
rs865936980
1084 G>S No ClinGen
Ensembl
TCGA novel 1084 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1298996316
CA362942344
1085 K>E No ClinGen
gnomAD
rs777879220
CA3685180
1085 K>R No ClinGen
ExAC
gnomAD
TCGA novel 1086 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362942309
rs1156848753
1089 W>* No ClinGen
TOPMed
gnomAD
CA362942307
rs1156848753
1089 W>C No ClinGen
TOPMed
gnomAD
TCGA novel 1090 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1090 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685177
rs779299649
1093 F>L No ClinGen
ExAC
gnomAD
rs201770579
CA3685175
1094 K>E No ClinGen
1000Genomes
ExAC
CA362942268
rs766714456
1095 D>G No ClinGen
ExAC
gnomAD
CA3685174
rs766714456
1095 D>V No ClinGen
ExAC
gnomAD
rs760448501
CA3685173
1096 V>M No ClinGen
ExAC
gnomAD
rs1562029849
CA362942258
1097 N>Y No ClinGen
Ensembl
CA362942241
rs1261480452
1099 T>S No ClinGen
gnomAD
CA362942237
rs1204858672
1100 A>S No ClinGen
gnomAD
rs767206859
CA3685170
1104 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs750074334
CA3685171
1104 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs368224878
CA3685169
1105 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3685168
rs773856808
1107 D>G No ClinGen
ExAC
gnomAD
rs1310491000
CA362942169
1110 S>N No ClinGen
gnomAD
CA3685165
rs762908967
1114 D>N No ClinGen
ExAC
gnomAD
CA3685166
rs762908967
1114 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 1115 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1115 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362942118
rs1338623454
1117 A>V No ClinGen
gnomAD
rs886300295
CA135885382
1119 M>V No ClinGen
TOPMed
gnomAD
CA362942093
rs1321429810
1121 G>W No ClinGen
TOPMed
CA362942071
rs1402864939
1124 A>T No ClinGen
gnomAD
rs1464151930
CA362942063
1125 T>A No ClinGen
gnomAD
CA3685162
rs747298977
1126 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA3685161
rs777957320
1129 M>V No ClinGen
ExAC
gnomAD
CA362942030
rs1478604842
1130 A>T No ClinGen
gnomAD
CA362941990
rs1192957132
1135 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs772223532
CA3685160
1138 Q>R No ClinGen
ExAC
gnomAD
CA135885365
rs967224128
1139 K>E No ClinGen
gnomAD
rs1258936935
CA362941962
1139 K>R No ClinGen
gnomAD
TCGA novel 1141 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685159
rs370862886
1141 E>K No ClinGen
ESP
ExAC
gnomAD
CA362941913
rs1457458716
1146 R>G No ClinGen
TOPMed
CA3685158
rs533040091
1146 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA3685156
rs755459471
1148 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA3685155
rs754344047
1151 C>F No ClinGen
ExAC
gnomAD
rs756546832
CA3685153
1152 Y>* No ClinGen
ExAC
gnomAD
rs780318572
CA3685154
1152 Y>C No ClinGen
ExAC
gnomAD
rs750162206
CA3685152
1153 D>N No ClinGen
ExAC
gnomAD
CA135885331
rs199878572
1154 M>T No ClinGen
1000Genomes
TOPMed
gnomAD
CA3685151
rs767294571
1155 F>S No ClinGen
ExAC
gnomAD
rs761493188
CA3685150
1156 H>N No ClinGen
ExAC
gnomAD
rs1331464317
CA362941843
1156 H>R No ClinGen
TOPMed
gnomAD
rs1397722950
CA362941813
1160 T>I No ClinGen
gnomAD
CA3685148
rs555807076
1163 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1444577050
CA362941785
1164 E>D No ClinGen
gnomAD
CA135885295
rs530512827
1165 V>I No ClinGen
gnomAD
CA362941783
rs530512827
1165 V>L No ClinGen
gnomAD
CA135885292
rs1041031049
1166 G>C No ClinGen
TOPMed
gnomAD
rs1423705875
CA362941738
1171 I>M No ClinGen
gnomAD
rs1554168045
CA3685145
1171 I>V No ClinGen
Ensembl
rs775467846
CA3685144
1172 A>G No ClinGen
ExAC
gnomAD
TCGA novel 1172 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373444968
CA3685143
1173 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM284798
CA3685142
rs759339292
1175 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3685141
rs776339464
1175 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA135885280
rs942737928
1177 V>G No ClinGen
TOPMed
gnomAD
CA362941700
rs1309848477
1178 I>T No ClinGen
gnomAD
TCGA novel 1184 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1185 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748350026
CA362941647
1185 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs201848424
CA3685138
1186 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768746835
CA3685137
1187 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 1189 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1015141862
CA135885273
1190 E>* No ClinGen
Ensembl
TCGA novel 1191 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1392361046
CA362941598
1192 Y>C No ClinGen
gnomAD
CA3685135
rs780601128
1197 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs756634654
CA3685134
COSM1264912
1200 R>C Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375814055
CA3685132
1200 R>H Variant assessed as Somatic; 4.733e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM323205
rs375814055
CA3685133
1200 R>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1268051518
CA362941536
1201 I>M No ClinGen
TOPMed
CA362941538
rs1196185147
1201 I>T No ClinGen
TOPMed
CA362941542
rs1481460885
1201 I>V No ClinGen
TOPMed
rs868646271
CA135885251
1202 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA135885246
rs376185929
1204 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1437975122
CA362941514
1205 W>G No ClinGen
gnomAD
TCGA novel 1210 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751202396
CA3685130
1211 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3685129
rs145291497
1211 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1453559007
CA362941455
1213 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1581885156
CA362941442
1215 D>V No ClinGen
Ensembl
rs757912563
CA3685128
1216 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1286721691
CA362941403
1221 V>I No ClinGen
gnomAD
CA362941396
rs1242219710
1222 T>A No ClinGen
gnomAD
CA362941345
rs1336246576
1229 K>T No ClinGen
TOPMed
gnomAD
CA135885221
rs969732913
1231 A>V No ClinGen
TOPMed
rs1300872917
CA362941327
1232 T>N No ClinGen
gnomAD
rs766136394
CA3685122
1233 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA3685121
rs761977291
COSM314996
1233 D>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 1236 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362941283
rs1339852131
1238 I>M No ClinGen
TOPMed
rs147395811
CA3685118
1239 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1297938345
CA362941270
1240 F>C No ClinGen
TOPMed
rs1173263131
CA362941254
1242 N>S No ClinGen
gnomAD
rs775648744
CA3685117
1243 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs770457386
CA3685116
1244 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1290737587
CA362941242
1244 A>V No ClinGen
TOPMed
CA135885163
rs776184651
1247 P>H No ClinGen
Ensembl
CA362941220
rs1330935201
1248 S>* No ClinGen
gnomAD
rs746329974
CA3685115
1249 F>L No ClinGen
ExAC
gnomAD
CA362941203
rs1357090299
1250 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 1253 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362941178
rs1224538691
1254 K>T No ClinGen
TOPMed
rs1393372535
CA362941172
1255 N>D No ClinGen
TOPMed
gnomAD
CA362941168
rs1161797088
1255 N>I No ClinGen
gnomAD
CA3685114
rs781724385
1255 N>K No ClinGen
ExAC
gnomAD
rs147907593
CA3685113
1256 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA135885134
rs977340930
1257 Y>C No ClinGen
TOPMed
rs1218445832
CA362941158
1257 Y>H No ClinGen
TOPMed
gnomAD
TCGA novel 1261 A>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA135885132
rs867552316
1262 E>* No ClinGen
Ensembl
CA3685112
rs189163480
1263 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3685111
rs144540037
1264 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3685110
rs757920531
1265 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA362941080
rs1581884700
1269 L>F No ClinGen
Ensembl
TCGA novel 1269 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1222522631
CA362941069
1271 F>L No ClinGen
gnomAD
CA3685108
rs764676290
1271 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs1429007456
CA362941060
1272 P>L No ClinGen
gnomAD
CA3685102
rs764385294
1276 L>F No ClinGen
ExAC
gnomAD
CA3685103
rs764385294
1276 L>I No ClinGen
ExAC
gnomAD
rs1562028959
CA362941033
1277 C>R No ClinGen
Ensembl
CA3685100
rs140560647
COSM2155203
1280 G>R Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769973774
CA3685099
1281 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs1195617649
CA362940997
1282 S>A No ClinGen
gnomAD
CA3685098
rs760161942
1282 S>F No ClinGen
ExAC
gnomAD
CA362940989
rs1241497756
1283 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 1283 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362940990
rs1241497756
1283 T>S No ClinGen
TOPMed
gnomAD
rs1222990785
CA362940985
1284 L>S No ClinGen
Ensembl
rs1006917126
CA135885067
1285 S>N No ClinGen
TOPMed
rs771284097
CA3685096
1291 H>D No ClinGen
ExAC
gnomAD
CA3685095
rs747403899
1291 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1318187581
CA362940930
1292 R>T No ClinGen
gnomAD
CA362940915
rs1351632322
1294 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 1298 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362940884
rs1485947171
1298 H>R No ClinGen
TOPMed
rs771777005
CA3685093
1299 Y>C No ClinGen
ExAC
gnomAD
CA135885064
rs373104733
1299 Y>H No ClinGen
ESP
gnomAD
CA3685092
rs747773591
1303 V>I No ClinGen
ExAC
gnomAD
CA3685090
rs754476328
1305 L>F No ClinGen
ExAC
gnomAD
rs143458888
CA3685089
1308 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779983949
CA3685088
1310 P>L No ClinGen
ExAC
gnomAD
CA3685086
rs750266983
1313 D>E No ClinGen
ExAC
gnomAD
rs767170997
CA3685085
1319 K>* No ClinGen
ExAC
gnomAD
rs1562028722
CA362940747
1319 K>R No ClinGen
Ensembl
CA362940735
rs1473746908
1321 A>T No ClinGen
TOPMed
gnomAD
rs1182484361
CA362940717
1323 L>* No ClinGen
gnomAD
rs1241149417
CA362940720
1323 L>V No ClinGen
gnomAD
rs1457801919
CA362940713
1324 S>P No ClinGen
gnomAD
CA135885021
rs996388524
1325 H>R No ClinGen
Ensembl

1 associated diseases with Q6R2W3

[MIM: 619401]: Lymphatic malformation 11 (LMPHM11)

A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM11 is an autosomal dominant form characterized by onset of lower extremity edema in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations. {ECO:0000269|PubMed:32947856}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM11 is an autosomal dominant form characterized by onset of lower extremity edema in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations. {ECO:0000269|PubMed:32947856}. Note=The disease may be caused by variants affecting the gene represented in this entry.

4 regional properties for Q6R2W3

Type Name Position InterPro Accession
domain Helicase, C-terminal 305 - 473 IPR001650
domain DEAD/DEAH box helicase domain 116 - 280 IPR011545
domain Helicase superfamily 1/2, ATP-binding domain 110 - 309 IPR014001
domain RNA helicase, DEAD-box type, Q motif 91 - 119 IPR014014

Functions

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

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

1 GO annotations of molecular function

Name Definition
nucleic acid binding Binding to a nucleic acid.

3 GO annotations of biological process

Name Definition
DNA integration The process in which a DNA segment is incorporated into another, usually larger, DNA molecule such as a chromosome.
positive regulation of cell cycle Any process that activates or increases the rate or extent of progression through the cell cycle.
positive regulation of epithelial cell proliferation Any process that activates or increases the rate or extent of epithelial cell proliferation.

189 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A4FUB7 GIN1 Gypsy retrotransposon integrase-like protein 1 Bos taurus (Bovine) PR
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
Q9P2P1 NYNRIN Protein NYNRIN Homo sapiens (Human) PR
Q9UN19 DAPP1 Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide Homo sapiens (Human) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
P08151 GLI1 Zinc finger protein GLI1 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q8IZM8 ZNF654 Zinc finger protein 654 Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q9Y4E5 ZNF451 E3 SUMO-protein ligase ZNF451 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
Q6ZNG9 KRBA2 KRAB-A domain-containing protein 2 Homo sapiens (Human) PR
P0CF97 FAM200B Protein FAM200B Homo sapiens (Human) PR
Q9QXT1 Dapp1 Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide Mus musculus (Mouse) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q94KB1 MLO14 MLO-like protein 14 Arabidopsis thaliana (Mouse-ear cress) PR
O80580 MLO15 MLO-like protein 15 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SMP1 XTH11 Probable xyloglucan endotransglucosylase/hydrolase protein 11 Arabidopsis thaliana (Mouse-ear cress) PR
O49621 MLO1 MLO-like protein 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FK75 At5g45670 GDSL esterase/lipase At5g45670 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FI00 MLO11 MLO-like protein 11 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MEAVSRVFPA LAGQAPEEQG EIIKVKVKEE DHTWDQESAL RRNLSYTREL SRQRFRQFCY
70 80 90 100 110 120
QETPGPREAL SQLRELCRQW LNPEIHTKEQ ILELLVLEQF LTILPEELQS WVREHNPESG
130 140 150 160 170 180
EEVVTLLEDL ERELDEPRQQ VSQGTYGQEV SMEEMIPLDS AKESLGTQLQ SMEDRMECES
190 200 210 220 230 240
PEPHPLQDNG SFLWFSMMSQ SMGGDNLSSL DTNEAEIEPE NMREKFFRSL ARLLENKSNN
250 260 270 280 290 300
TKIFSKAKYC QLIKEVKEAK AKAKKESVDY RRLARFDVIL VQGNEKLIEA VNGETDKIRY
310 320 330 340 350 360
YLHSEDLFDI LHNTHLSIGH GGRTRMEKEL QAKYKNITKE VIMLYLTLCK PCQQKNSKLK
370 380 390 400 410 420
KVLTSKSIKE VSSRCQVDLI DMQLNPDGEY RFILHYQDLC TKLTFLRSLK SKRPTEVAHA
430 440 450 460 470 480
LLDIFTIIGA PSVLQSDNGR EFSSQVVSEL SNIWPELKIV HGKSQTCQSQ SSAEQTEDIR
490 500 510 520 530 540
KRIFSWMQTN NSSHWTEFLW FIQMSQNQPY HRSMQQTPCE SAFSSEAKLG LSHSQLTEEL
550 560 570 580 590 600
VASLHTENEL DQADKELENT LRAQYEENIE TGTDSSDIEE NLSVTPKVAE KSPPESRLRF
610 620 630 640 650 660
LSCVVCEKEC TGVNSCISCD GNIHAICGVP SQHGTEGCGR QITCSLCYET STMKRKHDEI
670 680 690 700 710 720
QRSLPVKPSK MLKPSGTPFS PDKVGDWMAK QASLDFFVKK RHAFSEHSSS NKRNVNNRSY
730 740 750 760 770 780
PEEGKTKRVH ASFTRKYDPS YIEFGFVAVI DGEVLKPQCI ICGDVLANEA MKPSKLKRHL
790 800 810 820 830 840
YSKHKEISSQ PKEFFERKSS ELKSQPKQVF NVSHINISAL RASYKVALPV AKSKTPYTIA
850 860 870 880 890 900
ETLVKDCIKE VCLEMLGESA AKKVAQVPLS NDTIARRIQE LANDMEDQLI EQIKLAKYFS
910 920 930 940 950 960
LQLDECRDIA NMIILLVYVR FEHDDDIKEE FFFSASLPTN TTSSELYEAV KNYIVNKCGL
970 980 990 1000 1010 1020
EFKFCVGVCS DGAASMTGKH SEVVTQIKEL APECKTTHCF IHRESLAMKK ISAELNSVLN
1030 1040 1050 1060 1070 1080
DIVKIVNYIK SNSLNSRLFS LLCDNMEADH KQLLLHAEIR WLSRGKVLSR MFEIRNELLV
1090 1100 1110 1120 1130 1140
FLQGKKPMWS QLFKDVNWTA RLAYLSDIFS IFNDLNASMQ GKNATYFSMA DKVEGQKQKL
1150 1160 1170 1180 1190 1200
EAWKNRISTD CYDMFHNLTT IINEVGNDLD IAHLRKVISE HLTNLLECFE FYFPSKEDPR
1210 1220 1230 1240 1250 1260
IGNLWIQNPF LSSKDNLNLT VTLQDKLLKL ATDEGLKISF ENTASLPSFW IKAKNDYPEL
1270 1280 1290 1300 1310 1320
AEIALKLLLL FPSTYLCETG FSTLSVIKTK HRNSLNIHYP LRVALSSIQP RLDKLTSKKQ
AHLSH