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 P57737

Entry ID Method Resolution Chain Position Source
AF-P57737-F1 Predicted AlphaFoldDB

967 variants for P57737

Variant ID(s) Position Change Description Diseaes Association Provenance
CA7875522
rs751521443
2 N>S No ClinGen
ExAC
gnomAD
CA394612225
rs1188328683
3 R>S No gnomAD
ClinGen
CA277084853
rs917066325
4 F>Y No TOPMed
ClinGen
rs749972074
CA7875519
5 R>S No ExAC
TOPMed
gnomAD
ClinGen
rs370609715
CA7875517
10 R>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs370609715
CA277084838
10 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370609715
CA7875516
10 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7875518
rs764939128
10 R>W No ExAC
TOPMed
gnomAD
ClinGen
rs1011104571
CA394612143
11 H>L No gnomAD
ClinGen
rs1011104571
CA277084827
11 H>R No gnomAD
ClinGen
rs772376743
CA7875515
12 T>I No ExAC
gnomAD
ClinGen
CA277084818
rs927407765
13 E>D No TOPMed
ClinGen
rs760082029
CA7875514
13 E>K No ClinGen
ExAC
gnomAD
CA394612105
rs1384959298
15 R>P No TOPMed
ClinGen
rs771452992
CA7875512
16 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1231032013
CA394612094
17 P>T No ClinGen
TOPMed
rs749326506
CA394612085
18 R>C No ClinGen
ExAC
gnomAD
rs749326506
CA7875511
18 R>G No ClinGen
ExAC
gnomAD
rs1292319356
CA394612076
19 R>L No ClinGen
TOPMed
CA394612075
rs1328591266
20 E>K No gnomAD
ClinGen
CA394611237
rs1317966795
21 S>P No ClinGen
TOPMed
CA7875485
rs745858594
22 W>S No ClinGen
ExAC
TOPMed
gnomAD
rs373832750
CA7875484
23 I>F No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7875483
rs756653623
25 D>G No ClinGen
ExAC
gnomAD
rs1431505977
CA394611175
26 I>V No ClinGen
gnomAD
CA7875482
rs753411850
27 R>* No ClinGen
ExAC
gnomAD
CA394611164
rs753411850
27 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs188785592
CA7875481
27 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
gnomAD
ClinGen
NCI-TCGA
COSM1194154
rs369545017
CA7875480
28 A>V lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1270698708
CA394611145
29 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA394611124
rs1478826883
31 A>D No ClinGen
TOPMed
CA7875478
rs143239749
31 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1425659791
CA394611113
32 P>R No TOPMed
gnomAD
ClinGen
rs778690286
CA277083231
33 S>L No TOPMed
ClinGen
rs1485237658
CA394611095
34 C>Y No gnomAD
ClinGen
rs773644877
CA7875476
35 R>K No ExAC
gnomAD
ClinGen
rs1442636185
CA394611043
38 I>F No TOPMed
gnomAD
ClinGen
CA7875475
rs765789496
38 I>T No ExAC
gnomAD
ClinGen
rs1442636185
CA394611045
38 I>V No ClinGen
TOPMed
gnomAD
CA394611027
rs1322057546
39 K>R No gnomAD
ClinGen
CA394611012
rs1364084145
41 S>R No TOPMed
ClinGen
CA394610988
rs1280600487
42 C>F No gnomAD
ClinGen
rs776801235
CA7875473
43 S>C No ClinGen
ExAC
gnomAD
CA394610971
rs1268481214
43 S>R No ClinGen
TOPMed
gnomAD
CA394610960
rs978239454
44 L>F No TOPMed
ClinGen
rs1025044240
CA394610953
45 I>N No TOPMed
gnomAD
ClinGen
CA277083188
rs1025044240
45 I>T No ClinGen
TOPMed
gnomAD
CA7875472
rs142610193
45 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs527794334
CA7875470
46 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs527794334
CA277083181
46 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394610920
rs1447012040
48 N>S No gnomAD
ClinGen
rs1170982260
CA394610898
50 D>N No ClinGen
TOPMed
gnomAD
CA7875467
rs200926240
51 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs561810989
CA7875465
51 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs561810989
CA7875466
51 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA394610722
rs757689189
53 G>D No ExAC
gnomAD
ClinGen
rs757689189
CA7875438
53 G>V No ClinGen
ExAC
gnomAD
TCGA novel 57 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA277082632
rs1001920773
59 P>L No ClinGen
TOPMed
rs754433796
CA7875437
59 P>T No ClinGen
ExAC
gnomAD
CA7875436
rs764699987
64 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA394610597
rs1161130966
65 E>* No TOPMed
gnomAD
ClinGen
rs1421185409
CA394610593
65 E>G No gnomAD
ClinGen
rs1161130966
CA394610601
65 E>K No ClinGen
TOPMed
gnomAD
CA394610561
rs1168588433
67 K>N No TOPMed
gnomAD
ClinGen
rs752844832
CA7875434
68 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA7875433
rs767817850
68 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs571666354
CA7875432
69 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs147749439
CA7875431
69 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369043158
CA7875429
70 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369043158
CA7875428
70 V>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1220319789
CA394610535
71 A>T No gnomAD
ClinGen
CA7875426
rs747620662
73 L>V No ClinGen
ExAC
gnomAD
CA7875425
rs776154582
74 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA7875424
rs768271582
74 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA277082602
rs1025661676
77 S>* No gnomAD
ClinGen
rs574460410
CA7875408
78 D>E No 1000Genomes
ExAC
gnomAD
ClinGen
CA7875423
rs746730852
78 D>N No ClinGen
ExAC
gnomAD
CA394610256
rs1162546813
80 V>L No TOPMed
ClinGen
CA7875407
rs768218751
81 T>S No ExAC
gnomAD
ClinGen
rs746505053
CA7875406
81 T>S No ExAC
TOPMed
gnomAD
ClinGen
CA7875403
rs749625073
82 D>E No ExAC
ClinGen
CA7875404
rs145540681
82 D>N No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs778331460
CA7875402
85 F>C No ClinGen
ExAC
gnomAD
CA394610224
rs1184006730
85 F>V No gnomAD
ClinGen
CA7875400
rs748733657
86 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1231102901
CA394610212
87 P>S No TOPMed
gnomAD
ClinGen
CA394610186
rs1345132853
90 D>E No gnomAD
ClinGen
CA7875395
rs766587948
94 A>P No ClinGen
ExAC
gnomAD
rs758592649
CA7875394
94 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 95 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375730527
CA7875392
97 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7875393
rs375730527
97 S>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7875388
rs554894145
101 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs373206412
CA277080017
102 V>A No gnomAD
ClinGen
CA394610106
rs1279326868
102 V>I No ClinGen
gnomAD
CA277079997
rs755482706
105 W>R No Ensembl
ClinGen
rs745958172
CA7875358
106 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1404365474
CA394610078
106 R>Q No ClinGen
gnomAD
CA277079982
rs1025778417
107 L>P No ClinGen
Ensembl
rs145512278
CA7875355
108 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145512278
CA7875356
108 P>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1384058508
CA394610063
109 G>A No gnomAD
ClinGen
CA7875354
rs777487202
111 G>R No ExAC
ClinGen
rs756074845
CA7875353
111 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs767505758
CA394610050
112 Q>* No ExAC
gnomAD
ClinGen
CA7875351
rs767505758
112 Q>E No ClinGen
ExAC
gnomAD
CA394610048
rs1198105602
112 Q>P No gnomAD
ClinGen
CA394610034
rs1479132420
113 A>V No gnomAD
ClinGen
rs1567302991
CA394610031
114 L>V No ClinGen
Ensembl
CA394610011
rs1238409591
116 S>P No TOPMed
ClinGen
CA394609999
rs1216136527
117 A>P No gnomAD
ClinGen
rs1347360712
CA394609984
118 P>S No TOPMed
ClinGen
rs1326313203
CA394609969
119 G>E No ClinGen
gnomAD
rs200673105
CA7875347
119 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394609962
CA394609960
rs764429150
120 V>L No ClinGen
ExAC
gnomAD
rs764429150
CA7875345
120 V>M No ClinGen
ExAC
gnomAD
rs761102060
CA7875343
123 G>D No ExAC
TOPMed
gnomAD
ClinGen
CA394609913
rs1318318613
124 P>L No ClinGen
gnomAD
rs1326051498
CA394609918
124 P>S No ClinGen
TOPMed
gnomAD
rs775799990
CA7875342
125 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA394609874
rs1421111257
127 L>P No gnomAD
ClinGen
CA394609862
rs1186566494
128 P>R No gnomAD
ClinGen
rs375821510
CA7875339
129 V>A No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1033843007
CA277079933
131 V>G No TOPMed
ClinGen
rs1462886886
CA394609832
131 V>I No ClinGen
gnomAD
CA394609814
rs1465897310
132 L>R No TOPMed
ClinGen
CA394609761
rs1215187052
136 P>L No gnomAD
ClinGen
CA7875336
rs529649583
136 P>S No 1000Genomes
ExAC
gnomAD
ClinGen
rs1454391873
CA394609748
137 T>N No ClinGen
gnomAD
CA394609725
rs780954134
139 D>E No ExAC
TOPMed
gnomAD
ClinGen
CA7875334
rs747998521
139 D>V No ClinGen
ExAC
gnomAD
rs751095133
CA7875331
140 G>A No ExAC
gnomAD
ClinGen
rs560823413
CA7875332
140 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766048891
CA394609662
145 A>S No ExAC
TOPMed
gnomAD
ClinGen
rs766048891
CA7875330
COSM178930
145 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA7875329
rs758114264
146 A>G No ClinGen
ExAC
TOPMed
gnomAD
COSM1202098
rs1318941708
CA394609653
146 A>T large_intestine [Cosmic] No TOPMed
ClinGen
cosmic curated
CA394609647
rs758114264
146 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs944521987
CA277079891
150 V>L No TOPMed
gnomAD
ClinGen
CA394609313
rs944521987
150 V>M No ClinGen
TOPMed
gnomAD
CA394609307
rs1183344074
151 K>E No ClinGen
gnomAD
CA7875328
rs749973698
151 K>T No ExAC
gnomAD
ClinGen
CA7875327
rs764952438
153 W>C No ExAC
gnomAD
ClinGen
CA7875325
rs775952526
155 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs868320597
CA277079879
158 Q>H No ClinGen
Ensembl
TCGA novel 159 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7875324
rs767979595
160 P>L No ExAC
TOPMed
gnomAD
ClinGen
CA7875323
rs760085279
163 E>Q No ClinGen
ExAC
gnomAD
CA394609205
rs1166217168
164 L>P No ClinGen
TOPMed
CA394609189
rs1291370236
166 A>S No ClinGen
gnomAD
rs756973313
CA7875308
166 A>V No ClinGen
ExAC
gnomAD
CA394609183
rs1389143788
167 H>D No ClinGen
TOPMed
CA7875307
rs377516366
167 H>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs34983953
CA7875305
168 G>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7875306
rs767926499
168 G>R No ExAC
gnomAD
ClinGen
CA394609165
rs752007351
169 D>A No ClinGen
ExAC
gnomAD
rs1201726755
CA394609163
169 D>E No ClinGen
TOPMed
gnomAD
CA7875304
rs752007351
169 D>G No ExAC
gnomAD
ClinGen
CA394609164
rs752007351
169 D>V No ClinGen
ExAC
gnomAD
rs1289363570
CA394609159
170 L>V No ClinGen
TOPMed
rs1480768522
CA394609152
171 V>M No ClinGen
gnomAD
rs536557871
CA7875302
174 A>T No ExAC
TOPMed
gnomAD
ClinGen
CA7875301
VAR_057585
rs17137007
174 A>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7875299
rs762156238
175 V>I No ExAC
TOPMed
gnomAD
ClinGen
rs776568152
CA277078701
176 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA7875298
rs776568152
176 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs768494972
CA7875297
178 R>* No ClinGen
ExAC
gnomAD
rs34245892
CA7875296
178 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1298554937
CA394609081
180 G>R No gnomAD
ClinGen
TCGA novel 180 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA277078693
rs371351237
181 A>T No ESP
ClinGen
CA394609052
rs1384136549
183 V>G No gnomAD
ClinGen
CA7875294
rs772075590
183 V>M No ExAC
TOPMed
gnomAD
ClinGen
CA277078670
rs958292324
184 G>S No Ensembl
ClinGen
rs745337007
CA7875292
185 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs778533107
COSM1563112
CA7875290
185 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs777416273
CA7875287
186 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7875286
rs202239794
186 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1402075470
CA394609028
187 C>R No gnomAD
ClinGen
CA394608117
rs1428117826
CA394608115
189 D>E No gnomAD
ClinGen
CA277073743
rs760580887
190 K>E No ClinGen
Ensembl
CA7875251
rs3747579
VAR_057586
193 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
CA7875252
rs759263198
193 R>W No ExAC
gnomAD
ClinGen
CA7875250
rs770803805
195 F>Y No ExAC
TOPMed
gnomAD
ClinGen
CA394607947
rs1245147090
196 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA277073741
rs949997676
197 P>S No ClinGen
TOPMed
CA277073739
rs949997676
197 P>T No ClinGen
TOPMed
CA394607901
rs1202343756
198 R>G No gnomAD
ClinGen
rs1282115525
CA394607881
199 T>A No TOPMed
ClinGen
rs1490746577
CA394607871
199 T>I No ClinGen
TOPMed
gnomAD
rs1490746577
CA394607872
199 T>R No TOPMed
gnomAD
ClinGen
rs1291964805
CA394607860
200 K>Q No gnomAD
ClinGen
rs200117600
CA7875247
201 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1245047662
CA394607830
201 P>S No ClinGen
TOPMed
rs139943273
CA7875243
202 R>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs139943273
CA7875242
202 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs758735651
CA7875244
202 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs909975111
CA277073713
203 A>S No TOPMed
ClinGen
rs1226907549
CA394607767
204 S>Y No gnomAD
ClinGen
CA394607750
rs757882813
205 Q>* No ExAC
TOPMed
gnomAD
ClinGen
CA7875241
rs757882813
205 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA7875216
rs751353529
206 S>N No ExAC
gnomAD
ClinGen
CA394606402
rs1272085223
207 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA394606393
rs1364275476
208 Q>H No ClinGen
gnomAD
rs1364335586
CA394606396
208 Q>R No TOPMed
ClinGen
CA394606386
rs1171244461
209 A>V No gnomAD
ClinGen
rs765184965
CA7875212
210 H>Q No ExAC
TOPMed
gnomAD
ClinGen
CA7875213
rs750298756
210 H>Y No ExAC
TOPMed
gnomAD
ClinGen
rs1412205208
CA394606338
215 D>G No ClinGen
gnomAD
rs149365025
CA7875210
215 D>Y No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7875206
rs771356440
217 R>L No ExAC
TOPMed
gnomAD
ClinGen
CA7875207
rs771356440
217 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs760303888
CA7875208
217 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA394606311
rs1480874854
219 A>T No gnomAD
ClinGen
rs770463379
CA394606303
220 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA394606305
rs1187046697
220 W>R No ClinGen
gnomAD
rs770463379
CA7875203
220 W>S No ClinGen
ExAC
TOPMed
gnomAD
CA7875202
rs748235486
221 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs781185643
CA7875201
222 G>S No ExAC
gnomAD
ClinGen
CA277068238
rs548624548
224 W>G No ClinGen
Ensembl
CA7875200
rs755221296
225 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs751663147
CA7875199
226 H>L No ClinGen
ExAC
gnomAD
rs780264473
CA7875198
227 L>F No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 227 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758136071
CA394606230
230 T>I No ExAC
TOPMed
gnomAD
ClinGen
rs758136071
CA7875197
230 T>S No ExAC
TOPMed
gnomAD
ClinGen
rs1295157070
CA394606227
231 G>* No ClinGen
gnomAD
CA7875196
rs750253888
233 N>D No ExAC
gnomAD
ClinGen
rs544353618
CA7875194
233 N>K No 1000Genomes
ExAC
gnomAD
ClinGen
rs765131753
CA7875195
233 N>S No ExAC
gnomAD
ClinGen
CA394606209
rs1445718243
234 Q>E No gnomAD
ClinGen
rs1387040950
CA394606186
235 M>I No ClinGen
gnomAD
rs150184406
CA7875169
236 R>C No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7875167
rs762249901
236 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA7875166
rs762249901
236 R>L No ExAC
TOPMed
gnomAD
ClinGen
CA7875168
rs762249901
236 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA394606177
rs1434681743
237 E>G No ClinGen
TOPMed
gnomAD
CA394606176
rs1434681743
237 E>V No TOPMed
gnomAD
ClinGen
CA7875165
rs143869992
238 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7875164
rs138528740
238 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7875162
rs577087075
239 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1368288382
CA394606159
240 V>A No ClinGen
TOPMed
rs772270791
CA7875161
240 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA277068063
rs1033988470
242 L>P No ClinGen
Ensembl
rs746159028
CA7875160
242 L>V No ClinGen
ExAC
gnomAD
rs1266898342
CA394606143
243 W>* No ClinGen
gnomAD
CA394606128
rs1409024882
245 T>A No TOPMed
ClinGen
CA7875159
rs143448776
245 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746478553
CA7875157
246 R>Q No ExAC
gnomAD
ClinGen
rs1248401405
CA394606123
246 R>W No ClinGen
TOPMed
gnomAD
CA7875156
rs777532153
249 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA394606094
rs1233289981
250 S>I No gnomAD
ClinGen
CA7875153
rs752241535
250 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA277068053
rs376170319
251 A>T No ClinGen
TOPMed
gnomAD
CA394606088
rs1215949296
251 A>V No ClinGen
gnomAD
rs1223709092
CA394606071
254 S>Y No TOPMed
ClinGen
CA7875151
rs35357594
VAR_057587
257 L>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA394606048
rs1198849767
258 D>G No TOPMed
ClinGen
CA7875150
rs751197070
259 T>N No ClinGen
ExAC
gnomAD
CA7875147
rs777098028
260 S>L No ExAC
TOPMed
gnomAD
ClinGen
CA7875148
rs777098028
260 S>W No ExAC
TOPMed
gnomAD
ClinGen
rs1377122735
CA394606029
262 G>R No ClinGen
gnomAD
CA394593160
rs1358898436
263 C>R No gnomAD
ClinGen
CA394593133
rs1245815461
265 V>L No gnomAD
ClinGen
rs1245815461
CA394593135
265 V>M No gnomAD
ClinGen
CA277054619
rs955343100
266 P>R No Ensembl
ClinGen
CA394593104
rs1484241609
268 L>V No TOPMed
ClinGen
rs1327066149
CA394593074
270 P>L No ClinGen
TOPMed
gnomAD
rs1354218414
CA394593080
270 P>S No gnomAD
ClinGen
rs1406934761
CA394593071
271 D>N No ClinGen
gnomAD
CA7874601
rs748903155
272 S>F No ClinGen
ExAC
gnomAD
rs201395121
CA7874598
280 K>* No 1000Genomes
ExAC
gnomAD
ClinGen
CA277054610
rs867905268
280 K>N No Ensembl
ClinGen
rs1223301775
CA394592976
280 K>T No ClinGen
gnomAD
TCGA novel 281 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7874575
rs757304112
282 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA277054196
rs112503967
283 R>G No ClinGen
Ensembl
rs753922458
CA7874574
283 R>K No ExAC
gnomAD
ClinGen
rs1173808355
CA394592703
286 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs748385088
CA7874573
287 C>S No ClinGen
ExAC
gnomAD
rs758871588
CA277054168
288 Y>C No gnomAD
ClinGen
CA7874571
rs752978607
289 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA394592589
rs1179658166
290 V>A No TOPMed
ClinGen
rs767374198
CA7874570
COSM3771945
290 V>L pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs771044079
CA7874567
292 P>L No ExAC
TOPMed
gnomAD
ClinGen
CA394592545
rs151009989
292 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7874568
rs151009989
292 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394592481
rs1278568195
294 Q>* No ClinGen
gnomAD
CA7874565
rs142737736
295 P>L No ClinGen
ESP
ExAC
gnomAD
CA394592443
rs142737736
295 P>R No ClinGen
ESP
ExAC
gnomAD
CA394592424
rs1555470888
296 A>T No Ensembl
ClinGen
CA394592407
rs1304484230
296 A>V No ClinGen
gnomAD
rs1404706386
CA394592394
297 L>V No ClinGen
gnomAD
CA394592370
rs1332218516
298 S>R No TOPMed
ClinGen
rs1479544887
CA394592274
300 V>A No gnomAD
ClinGen
CA394592353
rs1173832153
300 V>M No gnomAD
ClinGen
CA7874533
rs778377658
301 T>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 302 Q>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1407310165
CA394592241
303 C>R No TOPMed
ClinGen
rs781554845
CA7874530
303 C>Y No ClinGen
ExAC
gnomAD
CA7874527
rs781165556
306 E>D No ExAC
gnomAD
ClinGen
CA7874528
rs751841296
306 E>G No ExAC
gnomAD
ClinGen
CA7874526
rs758241685
307 S>G No ClinGen
ExAC
gnomAD
rs765267381
CA7874524
307 S>I No ExAC
TOPMed
gnomAD
ClinGen
rs765267381
CA7874525
307 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA394592181
rs1365556086
308 V>M No gnomAD
ClinGen
rs776190117
CA7874522
309 L>Q No ExAC
gnomAD
ClinGen
rs757320376
CA7874520
310 R>C No ExAC
TOPMed
gnomAD
ClinGen
CA7874518
rs771161557
310 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7874519
rs771161557
310 R>P No ExAC
TOPMed
gnomAD
ClinGen
CA7874517
rs147812375
311 G>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1199932129
CA394592125
312 A>S No gnomAD
ClinGen
CA7874516
rs773572513
312 A>V No ClinGen
ExAC
gnomAD
rs1289572970
CA394592101
313 A>S No ClinGen
gnomAD
CA7874515
rs369822084
314 L>F No ESP
ExAC
gnomAD
ClinGen
CA7874514
rs748238767
314 L>R No ClinGen
ExAC
gnomAD
rs376576601
CA7874513
315 V>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs924477472
CA277053888
316 P>H No ClinGen
TOPMed
gnomAD
rs556405302
CA7874511
COSM970688
317 R>Q endometrium [Cosmic] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
CA7874512
rs570000167
317 R>W No 1000Genomes
ExAC
gnomAD
ClinGen
rs144433247
CA7874510
319 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765091340
CA7874507
322 V>I No ExAC
TOPMed
gnomAD
ClinGen
CA277053870
rs1012943164
323 M>L No ClinGen
TOPMed
gnomAD
CA277053866
rs963007049
323 M>R No TOPMed
ClinGen
rs147491703
CA7874505
326 E>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs147491703
CA7874504
326 E>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs373183563
CA7874500
COSM232086
329 R>C skin [Cosmic] No ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs201907324
CA7874499
329 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs149765522
CA7874497
330 V>I No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1222460100
CA394591824
332 Q>* No ClinGen
gnomAD
CA7874494
rs200036169
335 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7874493
rs548405976
336 T>I No 1000Genomes
ExAC
gnomAD
ClinGen
rs1318242047
CA394591762
337 A>T No gnomAD
ClinGen
rs772271708
CA394591744
338 I>M No ExAC
TOPMed
gnomAD
ClinGen
rs1312889661
CA394591751
338 I>V No ClinGen
TOPMed
rs112630763
CA277053824
339 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs112630763
CA7874491
COSM1377916
339 V>M large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7874490
rs778825526
340 P>T No ClinGen
ExAC
gnomAD
CA7874489
rs757023857
341 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA7874487
rs777645948
342 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs755640512
CA394591687
343 Y>* No ClinGen
ExAC
gnomAD
CA277053815
rs943117680
343 Y>C No ClinGen
TOPMed
CA394591673
rs1372503288
344 H>Q No ClinGen
TOPMed
gnomAD
CA7874485
rs565663467
345 V>A No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA394591672
rs1190924819
345 V>M No TOPMed
gnomAD
ClinGen
rs1243149340
CA394591659
346 P>S No ClinGen
gnomAD
CA7874484
rs767077113
347 R>C No ExAC
gnomAD
ClinGen
CA7874483
rs369681515
347 R>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA277053805
rs369681515
347 R>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA394591645
rs369681515
347 R>P No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs758062699
CA277053802
348 K>Q No gnomAD
ClinGen
rs1309854123
CA394591578
350 V>M No Ensembl
ClinGen
CA394591567
rs1405163974
351 E>* No ClinGen
TOPMed
rs1422228135
CA394591536
353 H>Y No gnomAD
ClinGen
COSM1377915
CA7874457
rs775838457
354 E>D large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ExAC
ClinGen
cosmic curated
NCI-TCGA
rs1469262274
CA394591518
354 E>G No ClinGen
gnomAD
CA7874458
rs761323614
354 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA394591522
rs761323614
354 E>Q No ExAC
TOPMed
gnomAD
ClinGen
rs1230793702
CA394591498
355 D>E No gnomAD
ClinGen
CA7874456
rs767675222
357 F>I No ExAC
TOPMed
gnomAD
ClinGen
CA7874455
rs759492410
358 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA277053696
rs914100307
358 P>T No TOPMed
gnomAD
ClinGen
CA394591430
rs1286384117
361 A>D No ClinGen
gnomAD
rs1357376632
CA394591437
361 A>T No gnomAD
ClinGen
rs1286384117
CA394591431
361 A>V No gnomAD
ClinGen
CA277053666
rs749083139
362 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA7874452
rs749083139
362 G>S No ExAC
TOPMed
gnomAD
ClinGen
rs1406604617
CA394591400
364 V>M No gnomAD
ClinGen
CA394591375
rs1345848140
366 A>T No gnomAD
ClinGen
rs1302476333
CA394591361
367 T>I No ClinGen
gnomAD
CA7874448
rs780954425
368 D>G No ClinGen
ExAC
gnomAD
CA7874449
rs748161669
368 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA394591335
rs1405428893
369 P>L No gnomAD
ClinGen
rs1399580294
CA394591341
369 P>S No gnomAD
ClinGen
rs754541668
CA7874447
370 H>P No ExAC
gnomAD
ClinGen
rs1032011614
CA277053651
370 H>Q No ClinGen
Ensembl
rs754541668
CA394591326
370 H>R No ClinGen
ExAC
gnomAD
CA394591319
rs1481633127
371 S>G No ClinGen
gnomAD
CA394591315
rs1269970788
371 S>N No ClinGen
gnomAD
rs1269970788
CA394591313
371 S>T No ClinGen
gnomAD
CA7874446
rs746448100
372 W>L No ExAC
gnomAD
ClinGen
CA394591303
rs1199369011
372 W>R No gnomAD
ClinGen
rs1268986223
CA394591274
374 A>T No TOPMed
ClinGen
rs1171768128
CA394590935
383 V>F No ClinGen
TOPMed
gnomAD
CA394590921
rs1388828221
385 L>F No ClinGen
gnomAD
rs1025674302
CA394590914
386 N>S No TOPMed
gnomAD
ClinGen
rs1025674302
CA277053509
386 N>T No ClinGen
TOPMed
gnomAD
rs779769850
CA7874426
387 P>L No ExAC
gnomAD
ClinGen
CA394590904
rs745556264
388 A>S No ExAC
TOPMed
ClinGen
CA7874424
rs745556264
388 A>T No ExAC
TOPMed
ClinGen
CA277053500
rs936807009
390 R>P No TOPMed
gnomAD
ClinGen
rs936807009
CA277053505
390 R>Q No ClinGen
TOPMed
gnomAD
rs370284503
CA7874422
390 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7874421
rs373776513
393 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1567252333
CA394590858
395 F>C No Ensembl
ClinGen
rs766490787
CA7874417
398 C>Y No ClinGen
ExAC
gnomAD
CA7874416
rs762984005
400 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs765322072
CA394590825
401 P>A No ExAC
TOPMed
gnomAD
ClinGen
CA7874413
rs761676191
401 P>H No ExAC
gnomAD
ClinGen
TCGA novel 401 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765322072
CA7874414
401 P>S No ExAC
TOPMed
gnomAD
ClinGen
CA7874411
rs9928967
VAR_057588
403 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
rs538497679
CA7874410
403 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
gnomAD
ClinGen
NCI-TCGA
CA394590805
rs1281478119
404 E>D No TOPMed
ClinGen
TCGA novel 404 E>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7874409
rs775538510
406 L>F No ExAC
gnomAD
ClinGen
CA394590788
rs1421056382
407 P>L No ClinGen
TOPMed
gnomAD
CA7874408
rs771738728
408 D>N No ClinGen
ExAC
gnomAD
rs1271039567
CA394590761
411 Q>H No TOPMed
gnomAD
ClinGen
rs1459814153
CA394590755
412 P>L No TOPMed
ClinGen
rs1233628214
CA394590749
413 A>V No TOPMed
gnomAD
ClinGen
CA394590748
rs1471220138
414 V>M No TOPMed
ClinGen
CA394590736
rs770421596
415 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA7874405
rs770421596
415 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs748962969
CA7874404
416 E>* No ExAC
TOPMed
gnomAD
ClinGen
rs755343804
CA7874402
417 T>I No ClinGen
ExAC
gnomAD
rs1305845790
CA394590695
418 P>A No TOPMed
gnomAD
ClinGen
CA7874401
rs752097861
418 P>L No ExAC
TOPMed
gnomAD
ClinGen
CA394590679
rs1406048607
419 V>A No ClinGen
TOPMed
gnomAD
rs142181518
CA277053369
419 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142181518
CA7874400
419 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1365060860
CA394590675
420 G>S No gnomAD
ClinGen
CA394590653
rs1455386971
421 D>E No gnomAD
ClinGen
rs758490203
CA7874399
421 D>Y No ClinGen
ExAC
gnomAD
CA7874398
rs199760152
423 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7874396
rs761999840
424 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200279423
CA394590612
425 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1275530805
CA394590465
426 E>D No TOPMed
ClinGen
TCGA novel 427 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394590428
rs1421700421
429 S>F No gnomAD
ClinGen
CA394590409
rs752470773
431 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs752470773
CA7874374
431 P>R No ExAC
TOPMed
gnomAD
ClinGen
CA7874373
rs767415038
432 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1399708735
CA394590400
432 P>S No gnomAD
ClinGen
rs759601582
CA7874372
COSM970687
434 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs890532422
CA277052390
436 T>I No gnomAD
ClinGen
rs1245289747
CA394590357
436 T>S No ClinGen
TOPMed
rs772756786
CA7874368
437 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA394590335
rs1385186440
438 P>S No ClinGen
Ensembl
rs1276885228
CA394590314
439 S>C No gnomAD
ClinGen
rs1276885228
CA394590313
439 S>F No gnomAD
ClinGen
rs1286853989
CA394590321
439 S>T No Ensembl
ClinGen
CA7874366
rs138573572
440 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1338511928
CA394590230
446 P>L No TOPMed
gnomAD
ClinGen
rs1338511928
CA394590232
446 P>R No TOPMed
gnomAD
ClinGen
CA7874361
rs757307632
446 P>T No ExAC
gnomAD
ClinGen
CA7874360
rs749331327
448 L>V No ExAC
TOPMed
gnomAD
ClinGen
rs1410293969
CA394590197
449 S>C No gnomAD
ClinGen
rs1410293969
CA394590195
449 S>F No ClinGen
gnomAD
CA277052314
rs1013553810
450 S>R No TOPMed
ClinGen
rs777862914
CA7874359
451 T>I No ClinGen
ExAC
gnomAD
rs777862914
CA394590172
451 T>S No ClinGen
ExAC
gnomAD
rs1166631237
CA394590167
452 S>G No gnomAD
ClinGen
rs1426020999
CA394590154
453 G>S No gnomAD
ClinGen
rs756469350
CA7874358
454 I>V No ExAC
gnomAD
ClinGen
rs767466448
CA7874356
455 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs766285498
CA7874353
458 P>R No ClinGen
ExAC
gnomAD
CA277052280
rs149031420
458 P>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7874354
rs149031420
458 P>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs762377970
CA7874352
459 S>R No ExAC
TOPMed
gnomAD
ClinGen
rs371031256
CA7874351
462 S>L Variant assessed as Somatic; 5.018e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs554085147
CA7874348
463 L>P No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA7874349
rs554085147
463 L>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1354559334
CA394590019
464 Q>R No gnomAD
ClinGen
rs1250472815
CA394590005
465 S>N No TOPMed
ClinGen
CA7874346
rs374326747
467 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394589990
rs374326747
467 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150298511
CA394589988
468 G>C No ClinGen
ESP
TOPMed
gnomAD
rs150298511
CA277052252
468 G>S No ClinGen
ESP
TOPMed
gnomAD
CA277051237
rs1041858649
468 G>V No ClinGen
Ensembl
CA394589689
rs1300507752
470 S>N No ClinGen
gnomAD
CA7874312
rs778775369
471 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA394589682
rs778775369
471 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1217366630
CA394589686
471 S>T No gnomAD
ClinGen
rs1270316592
CA394589680
472 K>E No ClinGen
gnomAD
rs756774746
CA7874311
472 K>T No ExAC
gnomAD
ClinGen
TCGA novel 473 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394589663
rs369054432
474 R>H No ClinGen
ESP
TOPMed
rs369054432
CA7874309
474 R>P No ClinGen
ESP
TOPMed
CA394589654
rs1027885261
475 H>Q No TOPMed
gnomAD
ClinGen
rs1362672643
CA394589657
475 H>R No gnomAD
ClinGen
CA7874308
rs753277318
477 Q>K No ExAC
gnomAD
ClinGen
CA7874307
rs763588711
477 Q>R No ClinGen
ExAC
gnomAD
rs1359237611
CA394589640
478 G>R No TOPMed
ClinGen
CA7874306
rs760433474
480 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA7874303
rs369427407
483 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs914281860
CA277051205
483 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
CA394589608
rs1272249700
484 D>N No ClinGen
TOPMed
rs1217863031
CA394589581
487 I>T No TOPMed
ClinGen
CA7874300
rs762408882
487 I>V No ExAC
TOPMed
gnomAD
ClinGen
rs1475114341
CA394589545
492 G>V No TOPMed
ClinGen
rs1309229398
CA394589542
493 L>F No TOPMed
gnomAD
ClinGen
rs1309229398
CA394589543
493 L>V No TOPMed
gnomAD
ClinGen
CA277051196
rs964020325
494 N>Y No TOPMed
gnomAD
ClinGen
rs1339374138
CA394589529
495 L>F No ClinGen
gnomAD
rs1413156446
CA394589520
496 T>I No TOPMed
ClinGen
rs1354399711
CA394589517
497 T>I No TOPMed
gnomAD
ClinGen
CA7874294
rs745605949
497 T>S No ClinGen
ExAC
gnomAD
CA394589513
rs1316819479
498 P>A No ClinGen
TOPMed
rs1264903513
CA394589510
498 P>R No gnomAD
ClinGen
rs1446269706
CA394589500
500 E>K No gnomAD
ClinGen
TCGA novel 503 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7874291
rs749207917
COSM1377913
503 G>S large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA394589458
rs1429188042
505 C>W No gnomAD
ClinGen
CA7874290
rs777391937
506 A>G No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 507 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA277051154
rs987145406
509 L>M No Ensembl
ClinGen
CA7874289
rs755547641
510 R>C No ExAC
TOPMed
gnomAD
ClinGen
CA7874288
rs367786074
510 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367786074
CA7874287
510 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758800794
CA7874286
512 A>V No ClinGen
ExAC
gnomAD
CA7874284
rs765686468
513 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA7874282
rs777250850
514 P>A No ExAC
gnomAD
ClinGen
CA7874281
rs764266901
514 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1244859788
CA394589342
516 L>V No ClinGen
gnomAD
rs1484852326
CA394589327
517 S>N No ClinGen
TOPMed
CA394589318
rs1310113657
518 S>G No gnomAD
ClinGen
rs1187477540
CA394589311
518 S>T No ClinGen
TOPMed
CA7874276
rs79399875
519 G>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7874277
rs746084994
519 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA7874278
rs746084994
519 G>W No ExAC
TOPMed
gnomAD
ClinGen
CA394589279
rs1596275412
520 G>E No Ensembl
ClinGen
CA394589270
rs1567248841
521 Q>E No ClinGen
Ensembl
CA394589249
rs1415487188
522 V>A No ClinGen
TOPMed
CA7874273
rs749263110
522 V>L No ClinGen
ExAC
gnomAD
CA277051100
rs963460737
526 E>Q No Ensembl
ClinGen
COSM703768
CA7874228
rs200108761
528 R>Q lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7874229
rs771918915
528 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA277050626
rs1003859043
CA394589071
529 K>N No TOPMed
gnomAD
ClinGen
CA7874227
rs778046320
529 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 529 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756467818
CA7874226
530 P>R No ClinGen
ExAC
gnomAD
rs1199026148
CA394589044
531 G>D No ClinGen
TOPMed
gnomAD
CA277050618
rs905051908
532 R>C No TOPMed
ClinGen
rs755060334
CA7874224
COSM3402327
532 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7874223
rs755060334
532 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA277050600
rs755060334
532 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1184754591
CA394589006
534 P>R No ClinGen
gnomAD
CA7874219
rs758600797
535 D>N No ClinGen
ExAC
gnomAD
rs145925246
CA7874218
536 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA277050559
rs1007056462
537 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No Ensembl
ClinGen
NCI-TCGA
CA7874217
rs764976540
537 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA394588928
rs1479516162
539 P>R No ClinGen
TOPMed
rs200682379
CA394588921
540 T>K No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs200682379
CA7874216
540 T>M Variant assessed as Somatic; 0.0004168 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394588904
rs1345401548
542 Q>* No ClinGen
TOPMed
CA394588907
rs1345401548
542 Q>K No ClinGen
TOPMed
rs1191831813
CA394588878
544 G>E No ClinGen
TOPMed
rs764057890
CA7874214
544 G>W No ClinGen
ExAC
gnomAD
CA394588873
rs1228749510
545 A>T No gnomAD
ClinGen
CA7874213
rs374434380
546 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA277050522
rs374434380
546 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA277050521
rs940664989
546 A>V No TOPMed
ClinGen
rs775200620
CA394588838
549 D>H No ClinGen
ExAC
gnomAD
rs775200620
CA7874212
549 D>Y No ExAC
gnomAD
ClinGen
CA394588816
rs1172774415
551 A>V No ClinGen
TOPMed
rs1447084992
CA394588796
552 W>C No TOPMed
gnomAD
ClinGen
rs771683880
CA7874211
552 W>L No ClinGen
ExAC
gnomAD
rs745546765
CA7874210
553 D>E No ClinGen
ExAC
gnomAD
CA7874209
rs142194602
554 P>A No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7874208
rs770076274
554 P>L No ClinGen
ExAC
gnomAD
CA394588780
rs142194602
554 P>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs201620163
CA7874207
556 D>N No 1000Genomes
ExAC
gnomAD
ClinGen
CA7874205
rs113335841
557 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA7874206
rs781665314
557 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA277050494
rs781665314
557 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs147901888
CA7874204
559 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA7874202
rs142371956
559 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs147901888
CA7874203
559 R>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs765446695
CA7874200
560 L>V No ExAC
gnomAD
ClinGen
rs148746257
CA394588715
561 A>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs148746257
CA7874198
561 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 561 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 562 V>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394588704
rs1305350061
562 V>A No TOPMed
ClinGen
CA394588709
rs1297311342
562 V>M No ClinGen
TOPMed
rs1392061750
CA394588654
563 A>G No gnomAD
ClinGen
rs1209190128
CA394588697
563 A>P No ClinGen
gnomAD
CA394588648
rs1169272762
564 G>D No gnomAD
ClinGen
CA394588646
rs1169272762
564 G>V No gnomAD
ClinGen
CA277050384
rs1018519358
565 E>D No ClinGen
Ensembl
CA394588632
rs1240367454
566 D>Y No ClinGen
TOPMed
rs201341218
CA394588620
567 A>S No ExAC
TOPMed
gnomAD
ClinGen
rs201341218
CA7874169
567 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1474447674
CA394588616
567 A>V No TOPMed
ClinGen
CA394588614
rs1596273873
568 R>G No Ensembl
ClinGen
rs760975925
CA7874168
568 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA394588597
rs1284698259
569 I>T No ClinGen
gnomAD
rs775869483
CA7874167
570 R>* No ClinGen
ExAC
gnomAD
CA7874166
rs200011523
570 R>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs200011523
CA7874165
570 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7874164
rs779101052
571 L>M No ClinGen
ExAC
gnomAD
rs1274798822
CA394588575
572 W>* No gnomAD
ClinGen
CA394588578
rs1342910991
572 W>R No ClinGen
TOPMed
rs200468998
CA394588565
573 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394588562
rs778091848
573 R>L No ClinGen
ExAC
gnomAD
CA7874161
rs778091848
573 R>Q No ClinGen
ExAC
gnomAD
rs200468998
CA7874162
573 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7874160
rs755985708
574 V>G No ExAC
gnomAD
ClinGen
CA7874159
rs372171864
575 P>A No ClinGen
ESP
ExAC
gnomAD
rs372171864
CA7874158
575 P>S No ClinGen
ESP
ExAC
gnomAD
rs202098148
CA7874156
576 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7874155
rs202098148
576 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1264311207
CA394588538
576 A>V No ClinGen
Ensembl
rs199527019
CA7874154
COSM327401
577 E>D urinary_tract haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1159178541
CA394588513
579 L>M No ClinGen
gnomAD
rs1052798683
CA277050345
582 V>G No gnomAD
ClinGen
CA277050348
rs1036432265
582 V>L No ClinGen
TOPMed
rs1429169307
CA394588460
584 T>A No ClinGen
gnomAD
CA7874152
rs764807592
584 T>I No ClinGen
ExAC
gnomAD
rs1038042434
CA277050336
585 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA394588434
rs1185492363
587 E>Q No ClinGen
gnomAD
CA7874148
rs760130983
588 T>I No ClinGen
ExAC
gnomAD
CA277050324
rs35536632
589 V>L No Ensembl
ClinGen
TCGA novel 592 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266853843
CA394588381
592 G>C No ClinGen
gnomAD
rs1405215799
CA394588348
592 G>V No TOPMed
ClinGen
rs1238911930
CA394588342
593 H>L No gnomAD
ClinGen
CA394588340
rs1217969337
593 H>Q No ClinGen
TOPMed
gnomAD
rs201451820
CA394588336
594 T>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs201451820
CA7874132
594 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201451820
CA7874133
594 T>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs149987748
CA7874129
599 S>F No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA394588297
rs1437022577
600 L>V No gnomAD
ClinGen
rs533667039
CA7874128
601 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7874127
rs773483699
601 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA394588274
rs139750538
603 H>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1176243210
CA394588279
603 H>Y No gnomAD
ClinGen
CA7874123
rs768511764
604 P>Q No ExAC
gnomAD
ClinGen
rs746715850
CA7874122
607 A>V No ExAC
gnomAD
ClinGen
CA394588251
rs1305633656
608 N>D No ClinGen
TOPMed
rs758392195
CA7874121
608 N>S No ExAC
TOPMed
gnomAD
ClinGen
CA7874120
rs758392195
608 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA277050129
rs1029842691
609 V>M No ClinGen
Ensembl
CA7874119
rs775883933
611 A>D No ExAC
gnomAD
ClinGen
CA394588226
rs1234058835
612 S>L No TOPMed
gnomAD
ClinGen
CA7874116
rs753548718
613 S>C No ExAC
TOPMed
gnomAD
ClinGen
CA394588216
rs1238127837
614 S>C No TOPMed
ClinGen
rs763592189
CA7874115
615 Y>C No ExAC
gnomAD
ClinGen
CA7874114
rs755370653
616 D>E No ExAC
gnomAD
ClinGen
CA394588200
rs751931461
617 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA7874113
rs751931461
617 L>V No ExAC
TOPMed
gnomAD
ClinGen
rs377442372
CA277050110
619 V>I No ESP
ClinGen
CA277050104
rs766836793
620 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs138389071
CA7874111
620 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
COSM1563113
CA7874112
rs766836793
620 R>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA7874110
rs773823147
623 D>E No ClinGen
ExAC
gnomAD
rs1449750781
CA394588146
625 Q>H No gnomAD
ClinGen
rs150079802
CA7874109
626 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7874107
rs776918264
627 G>A No ClinGen
ExAC
gnomAD
rs776918264
CA394588136
627 G>E No ClinGen
ExAC
gnomAD
CA277050082
rs776918264
627 G>V No ClinGen
ExAC
gnomAD
rs768828979
CA7874106
628 A>G No ExAC
TOPMed
gnomAD
ClinGen
CA7874105
rs201960728
629 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7874104
rs140152390
630 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs150670238
CA394588122
630 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7874102
rs150670238
630 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7874103
rs140152390
COSM703769
630 R>W lung [Cosmic] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs1230666486
CA394588120
631 L>V No ClinGen
gnomAD
CA394588101
rs1167361832
634 Q>* No gnomAD
ClinGen
rs1042241909
CA277050055
635 G>C No ClinGen
TOPMed
CA394588080
rs1232860203
637 Q>* No TOPMed
ClinGen
rs748675881
CA7874099
638 D>G No ClinGen
ExAC
gnomAD
rs770485384
CA7874100
638 D>N No ClinGen
ExAC
gnomAD
rs899026321
CA277050050
639 Q>E No ClinGen
TOPMed
gnomAD
TCGA novel 640 I>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7874071
rs757754639
641 F>C No ClinGen
ExAC
gnomAD
CA394588033
rs1269963772
642 S>N No TOPMed
gnomAD
ClinGen
CA394588034
rs1269963772
642 S>T No TOPMed
gnomAD
ClinGen
CA7874070
rs764114366
643 L>M No ExAC
TOPMed
gnomAD
ClinGen
rs1349827960
CA394588000
647 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
CA277049742
rs983901577
CA394587990
648 D>E No gnomAD
ClinGen
rs1476802391
CA394587995
648 D>H No ClinGen
TOPMed
rs1331337022
CA394587986
649 G>A No gnomAD
ClinGen
rs1437966769
CA394587987
649 G>W No gnomAD
ClinGen
CA394587979
rs1324740914
650 Q>R No ClinGen
gnomAD
CA7874068
rs760700653
651 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs760700653
CA394587975
651 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA394587954
rs1392691448
654 T>N No ClinGen
gnomAD
rs776919947
CA277049720
658 D>G No ClinGen
Ensembl
rs148013970
CA7874065
660 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA277049709
rs556093901
660 R>H No TOPMed
gnomAD
ClinGen
COSM1519190
rs556093901
CA394587914
660 R>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs556093901
CA277049703
660 R>P No TOPMed
gnomAD
ClinGen
rs771983428
CA7874064
661 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs771983428
CA277049680
661 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs1479010649
CA394587913
661 V>L No ClinGen
TOPMed
gnomAD
CA394587912
rs1479010649
661 V>M No ClinGen
TOPMed
gnomAD
CA7874062
rs201929828
662 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA7874063
rs770732865
662 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA394587903
rs1249701732
663 V>D No ClinGen
gnomAD
CA7874060
rs375394342
664 Y>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA277049653
rs1014718105
664 Y>H No ClinGen
TOPMed
CA7874059
rs747601448
665 R>G No ClinGen
ExAC
gnomAD
CA7874057
rs768482683
666 P>L No ExAC
TOPMed
gnomAD
ClinGen
CA7874058
rs143426656
666 P>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA394587884
rs746638584
667 R>G No ExAC
TOPMed
gnomAD
ClinGen
rs372806628
CA394587883
667 R>L No ClinGen
ESP
ExAC
TOPMed
CA7874054
rs372806628
667 R>P No ClinGen
ESP
ExAC
TOPMed
CA7874055
rs372806628
667 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
ClinGen
NCI-TCGA
CA7874056
rs746638584
667 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA394587881
rs1231679140
668 S>G No ClinGen
gnomAD
CA394587861
rs369034202
671 E>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7874051
rs369034202
671 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7874048
rs778287674
674 Q>E No ClinGen
ExAC
TOPMed
CA7874019
rs372270004
675 E>D No ClinGen
ESP
ExAC
rs567884489
CA7874021
675 E>K No 1000Genomes
ExAC
gnomAD
ClinGen
CA7874020
rs761881840
675 E>V No ExAC
gnomAD
ClinGen
CA7874018
rs763724198
676 G>S No ClinGen
ExAC
gnomAD
rs114279206
CA7874017
677 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1271381485
CA394587543
678 G>E No ClinGen
gnomAD
CA394587546
rs1305368358
678 G>R No ClinGen
gnomAD
TCGA novel 680 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394587522
rs199838202
681 G>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7874016
rs199838202
681 G>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7874014
rs138903298
683 R>C No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7874015
rs138903298
683 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773671001
COSM3937065
CA7874013
683 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA7874011
rs200575254
684 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781628095
CA7874010
685 A>T No ClinGen
ExAC
gnomAD
rs368029508
CA394587501
686 R>C No TOPMed
gnomAD
ClinGen
rs368029508
CA277049418
686 R>G No ClinGen
TOPMed
gnomAD
CA394587498
rs1461710243
686 R>H No ClinGen
gnomAD
rs1461710243
CA394587499
686 R>P No ClinGen
gnomAD
CA7874009
rs768734194
687 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs1332808361
CA394587496
687 I>V No ClinGen
TOPMed
rs910060499
CA394587490
688 V>F No ClinGen
gnomAD
rs910060499
CA277049402
688 V>I No gnomAD
ClinGen
rs146253104
CA7874008
691 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs959191427
CA277049383
692 D>E No ClinGen
Ensembl
rs779985527
CA7874007
692 D>Y No ExAC
gnomAD
ClinGen
CA277049381
rs1033839592
693 G>R No Ensembl
ClinGen
rs758698458
CA7874006
694 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA394587452
rs758698458
694 R>G No ExAC
TOPMed
gnomAD
ClinGen
rs750579955
CA394587451
694 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA7874005
rs750579955
694 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs757073497
CA7874003
695 C>Y No ExAC
gnomAD
ClinGen
CA7874002
rs753844958
698 V>G No ClinGen
ExAC
gnomAD
CA7873971
rs772210389
704 Q>* No ClinGen
ExAC
gnomAD
CA7873970
rs745881035
705 S>R No ExAC
TOPMed
gnomAD
ClinGen
rs774571246
CA7873969
707 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA7873968
rs771340253
707 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 710 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394587326
rs1377186341
712 Y>C No ClinGen
TOPMed
gnomAD
CA394587325
rs1377186341
712 Y>F No ClinGen
TOPMed
gnomAD
CA394587328
rs1380510293
712 Y>H No ClinGen
gnomAD
CA277048946
rs780683605
714 A>V No ClinGen
Ensembl
rs1244896853
CA394587295
716 A>V No ClinGen
TOPMed
rs1356881476
CA394587286
718 A>G No ClinGen
TOPMed
CA277048925
rs986468824
718 A>T No Ensembl
ClinGen
CA277048916
rs373350704
719 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA7873962
rs531731448
720 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs972074732
CA277048910
721 P>S No ClinGen
TOPMed
gnomAD
rs1427319507
CA394587259
723 A>E No ClinGen
TOPMed
gnomAD
CA394587240
rs1260223371
726 G>V No ClinGen
gnomAD
rs754521213
CA7873961
727 L>Q No ClinGen
ExAC
gnomAD
rs200550834
CA7873959
729 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7873958
rs758088815
730 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA277048896
rs758088815
730 A>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 730 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7873956
rs764542703
731 P>H No ExAC
gnomAD
ClinGen
CA7873955
rs760891363
733 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA394587202
rs760891363
733 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1293769488
CA394587181
737 S>N No TOPMed
gnomAD
ClinGen
CA394587180
rs1293769488
737 S>T No ClinGen
TOPMed
gnomAD
rs142159766
CA7873953
739 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs113640236
CA7873952
740 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000967403
CA7873951
rs113640236
740 P>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA394587161
rs113640236
740 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1309538547
CA394587156
741 D>H No ClinGen
TOPMed
rs771101075
CA7873950
742 T>S No ClinGen
ExAC
gnomAD
CA394587139
rs1395301868
743 G>V No gnomAD
ClinGen
CA277048810
rs1048361218
744 L>R No ClinGen
Ensembl
rs376945155
CA7873946
744 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394587128
rs1420663529
745 V>G No ClinGen
gnomAD
rs781034417
CA7873945
747 L>P No ClinGen
ExAC
CA7873943
rs746919528
749 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs779572564
CA7873942
750 K>Q No ClinGen
ExAC
rs757855791
CA7873941
750 K>R No ClinGen
ExAC
gnomAD
CA394587026
rs1348664494
752 D>N No gnomAD
ClinGen
CA7873910
rs376933725
754 R>C No ESP
ExAC
TOPMed
gnomAD
ClinGen
COSM3402326
rs765337019
CA7873908
754 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs765337019
CA7873909
754 R>P No ExAC
TOPMed
gnomAD
ClinGen
CA7873907
rs761973189
756 F>L No ExAC
gnomAD
ClinGen
CA394586981
rs372039186
756 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760398003
CA7873904
757 L>Q No ExAC
gnomAD
ClinGen
CA277048644
rs201343195
758 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA277048647
rs931932531
758 Y>F No ClinGen
TOPMed
CA394586956
rs375902989
759 E>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7873901
rs375902989
759 E>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs778330329
CA7873900
760 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA7873899
rs770430395
760 L>R No ExAC
gnomAD
ClinGen
COSM1580737
rs755396280
CA7873896
763 E>K haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs199853197
CA7873895
764 S>F No ExAC
TOPMed
gnomAD
ClinGen
CA394586898
rs1268589438
765 P>S No TOPMed
ClinGen
CA7873893
rs780550916
766 F>L No ExAC
gnomAD
ClinGen
rs758877138
CA7873892
768 L>P No ClinGen
ExAC
gnomAD
CA277048630
rs868703084
768 L>V No Ensembl
ClinGen
CA7873891
rs750909584
770 C>S No ClinGen
ExAC
gnomAD
rs765254955
CA7873890
772 S>G No ExAC
gnomAD
ClinGen
rs1326346768
CA394586814
773 F>L No ClinGen
gnomAD
CA7873889
rs757304912
774 T>M No ClinGen
ExAC
gnomAD
CA394586797
rs757304912
774 T>R No ClinGen
ExAC
gnomAD
CA7873886
rs760876582
775 S>L No ExAC
gnomAD
ClinGen
rs776798568
CA7873887
775 S>T No ExAC
gnomAD
ClinGen
rs767273606
CA7873884
776 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA7873883
rs759426740
778 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs770358307
CA7873882
779 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs770358307
CA7873881
779 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs542898602
CA7873853
781 G>A No 1000Genomes
ExAC
gnomAD
ClinGen
rs749767185
CA7873854
781 G>S No ExAC
gnomAD
ClinGen
CA7873852
rs756141624
782 L>F No ClinGen
ExAC
gnomAD
rs201255366
CA7873850
783 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201255366
CA394586717
783 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7873847
rs766063631
786 P>S No ClinGen
ExAC
gnomAD
CA7873846
rs763023836
787 K>E No ExAC
gnomAD
ClinGen
rs750344447
CA7873845
787 K>N No ClinGen
ExAC
TOPMed
CA277047903
rs1004572342
788 T>A No ClinGen
Ensembl
rs200987657
CA7873844
788 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1437498544
CA394586677
790 C>R No ClinGen
gnomAD
rs760225887
CA7873840
791 D>N No ClinGen
ExAC
gnomAD
CA394586663
rs771163686
792 V>L No ExAC
TOPMed
gnomAD
ClinGen
CA7873838
rs771163686
792 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs749821305
CA7873837
793 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA277047885
rs534024972
793 R>W No TOPMed
ClinGen
rs778190749
CA7873836
794 E>* No ExAC
gnomAD
ClinGen
CA394586647
rs1261450864
795 V>L No ClinGen
gnomAD
CA7873835
rs778117616
796 E>G No ClinGen
ExAC
gnomAD
rs781115900
CA7873833
798 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA7873831
rs779929606
799 R>P No ExAC
TOPMed
gnomAD
ClinGen
CA7873830
rs779929606
799 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA7873832
rs142775260
799 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs935385625
CA277047858
800 C>F No Ensembl
ClinGen
CA7873826
rs759014697
802 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7873827
rs139564699
802 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs375655768
CA7873823
804 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA7873822
rs774960939
804 R>H Variant assessed as Somatic; 4.69e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774960939
CA394586598
804 R>L No ExAC
TOPMed
gnomAD
ClinGen
rs763232660
CA394586590
CA7873821
805 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1377470352
CA394586584
806 S>C No ClinGen
gnomAD
CA7873819
rs773558780
COSM143693
807 S>F skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA394586566
rs1450690385
809 E>D No TOPMed
ClinGen
CA394586572
rs1262964598
809 E>K No gnomAD
ClinGen
rs776811424
CA7873816
814 R>Q No ExAC
gnomAD
ClinGen
CA7873817
rs557817406
814 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1225762929
CA394608198
817 R>* No ClinGen
TOPMed
COSM1377912
CA7873815
rs768577818
817 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373678474
CA394608177
819 R>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7873812
rs569079730
819 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA7873813
rs373678474
819 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7873771
rs748084320
821 E>D No ExAC
gnomAD
ClinGen
rs1420615409
CA394608016
823 F>L No TOPMed
gnomAD
ClinGen
rs1379850079
CA394607988
824 Q>R No gnomAD
ClinGen
CA7873770
rs762879819
826 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1253583472
CA394607955
COSM1196277
826 D>V lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA394607950
rs1449770293
827 V>M No ClinGen
gnomAD
rs751226091
CA7873768
830 D>H No ExAC
TOPMed
gnomAD
ClinGen
rs140184459
CA7873767
831 T>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA394607875
rs140184459
831 T>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1275789835
CA394607838
833 V>G No gnomAD
ClinGen
CA394607854
rs1373594642
833 V>M No gnomAD
ClinGen
CA394607832
rs900514322
834 I>L No TOPMed
gnomAD
ClinGen
rs1320378379
CA394607821
834 I>S No TOPMed
gnomAD
ClinGen
rs900514322
CA277103553
834 I>V No ClinGen
TOPMed
gnomAD
CA394607778
rs1420327082
836 E>D No gnomAD
ClinGen
CA7873764
rs764489771
836 E>G No ExAC
ClinGen
rs769595679
CA277103550
838 V>M No Ensembl
ClinGen
TCGA novel 839 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753208669
CA7873762
840 S>G No ExAC
gnomAD
ClinGen
rs553598882
CA277103537
840 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs553598882
CA7873761
840 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1425666330
CA394607711
840 S>R No ClinGen
gnomAD
CA394607710
rs1171763179
841 A>P No gnomAD
ClinGen
CA7873758
rs201607278
842 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA7873759
rs201607278
842 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs370883825
CA7873756
843 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7873757
rs763208781
843 A>P No ClinGen
ExAC
gnomAD
rs370883825
CA277103517
843 A>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1212639594
CA394607656
847 G>D No ClinGen
gnomAD
CA394607653
COSM3691006
rs1279864756
848 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA394607638
rs1343514238
850 G>W No gnomAD
ClinGen
CA394607631
rs1400725402
851 Q>* No gnomAD
ClinGen
CA394607621
rs1339995306
852 P>R No gnomAD
ClinGen
rs139084024
CA7873749
854 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750054519
CA7873748
854 L>R No ExAC
TOPMed
gnomAD
ClinGen
CA7873747
rs778023615
855 L>V No ExAC
gnomAD
ClinGen
TCGA novel 856 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA277103500
rs929449517
856 S>R No ClinGen
TOPMed
gnomAD
CA7873746
rs756446929
857 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1420916107
CA394607588
858 Q>* No gnomAD
ClinGen
CA394607578
rs1189443549
859 P>R No ClinGen
TOPMed
gnomAD
CA7873745
rs753263864
860 P>S No ExAC
gnomAD
ClinGen
CA7873744
rs191380280
863 S>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1209890107
CA394607545
864 P>S No ClinGen
gnomAD
CA394607520
rs1439417096
866 S>N No gnomAD
ClinGen
rs142694458
CA277102542
867 Q>E No ClinGen
ESP
TOPMed
gnomAD
rs763835995
CA7873715
868 A>S No ExAC
gnomAD
ClinGen
CA7873714
rs760626947
868 A>V No ExAC
gnomAD
ClinGen
rs1372322168
CA394607500
869 P>L No TOPMed
ClinGen
rs1401508219
CA394607504
869 P>T No gnomAD
ClinGen
CA7873712
rs138689319
870 R>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs145777624
CA7873709
870 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145777624
COSM388488
CA7873711
870 R>Q lung [Cosmic] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs770761571
CA394607486
872 A>D No ClinGen
ExAC
gnomAD
rs770761571
CA7873708
872 A>V No ExAC
gnomAD
ClinGen
rs748921727
CA7873707
873 P>L No ClinGen
ExAC
gnomAD
CA394607474
rs1303112289
874 A>V No ClinGen
gnomAD
rs750400638
CA7873705
875 R>C No ExAC
TOPMed
gnomAD
ClinGen
CA394607473
rs750400638
875 R>G No ExAC
TOPMed
gnomAD
ClinGen
rs143684014
CA7873704
875 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143684014
CA394607471
875 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750400638
CA277102527
875 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs374424650
CA394607470
876 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758827299
CA7873701
876 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs374424650
CA7873702
876 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 877 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750574643
CA7873700
877 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1375555925
CA394607461
878 P>A No ClinGen
TOPMed
rs1453641042
CA394607451
879 S>F No TOPMed
ClinGen
CA7873697
rs369689601
881 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754009939
CA7873695
882 Q>H No ClinGen
ExAC
gnomAD
rs1189569631
CA394607399
887 K>R No gnomAD
ClinGen
CA394607393
rs1427768325
888 S>T No TOPMed
ClinGen
CA394607361
rs1212657680
892 K>R No gnomAD
ClinGen
CA7873691
rs557354188
893 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7873690
rs376385745
893 K>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA394607352
rs1216737107
893 K>N No gnomAD
ClinGen
CA277102426
rs919335474
895 E>* No ClinGen
gnomAD
CA7873689
rs759365493
895 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA394607339
rs1311544534
895 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs759552936
CA7873670
896 L>Q No ExAC
gnomAD
ClinGen
CA394606950
rs1476852273
897 L>V No TOPMed
gnomAD
ClinGen
CA7873669
rs751495766
899 A>V No ExAC
gnomAD
ClinGen
rs762488451
CA7873667
900 M>I No ClinGen
ExAC
gnomAD
CA394606931
rs1253888268
900 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA394606916
rs1458169608
902 A>T No ClinGen
gnomAD
rs200306416
CA7873666
904 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394606896
rs1196244984
905 G>A No ClinGen
gnomAD
rs769629287
CA7873665
906 N>I No ClinGen
ExAC
gnomAD
CA394606887
rs1397393537
906 N>K No TOPMed
ClinGen
rs148884268
CA7873663
907 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7873664
rs761349815
907 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs746398029
CA7873661
908 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs772275319
CA7873662
908 E>K No ExAC
gnomAD
ClinGen
rs779323684
CA394606871
909 D>E No ExAC
TOPMed
gnomAD
ClinGen
CA394606868
rs1374461332
910 P>A No TOPMed
ClinGen
CA394606861
rs1408677312
911 L>F No gnomAD
ClinGen
rs1163895377
CA394606855
912 P>S No gnomAD
ClinGen
CA394606850
rs1457653166
913 Q>E No ClinGen
gnomAD
CA394606846
rs1567238528
913 Q>H No Ensembl
ClinGen
CA7873657
rs777805278
913 Q>R No ClinGen
ExAC
gnomAD
CA7873655
rs1555468223
918 G>V No Ensembl
ClinGen
CA7873652
rs543226131
919 V>L No 1000Genomes
ExAC
gnomAD
ClinGen
CA7873653
rs543226131
919 V>M No 1000Genomes
ExAC
gnomAD
ClinGen
rs574263199
CA277100831
920 D>A No ClinGen
1000Genomes
rs150440383
CA7873649
920 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138215306
CA7873651
920 D>N No ClinGen
ESP
ExAC
gnomAD
CA277100781
rs374448017
921 E>K No ClinGen
ExAC
gnomAD
CA7873648
rs374448017
921 E>Q No ClinGen
ExAC
gnomAD
CA277100773
rs761547642
923 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA277100777
rs957875550
923 E>G No Ensembl
ClinGen
rs201397239
CA7873646
923 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
gnomAD
ClinGen
NCI-TCGA
rs1256393867
CA394606778
924 W>L No ClinGen
TOPMed
rs1219271320
CA394606522
925 D>E No ClinGen
gnomAD
CA394606529
rs1280181074
925 D>N No ClinGen
gnomAD
CA394606518
rs1340154855
926 D>Q No ClinGen
gnomAD

No associated diseases with P57737

12 regional properties for P57737

Type Name Position InterPro Accession
repeat WD40 repeat 66 - 107 IPR001680-1
repeat WD40 repeat 115 - 154 IPR001680-2
repeat WD40 repeat 157 - 205 IPR001680-3
repeat WD40 repeat 203 - 244 IPR001680-4
repeat WD40 repeat 534 - 573 IPR001680-5
repeat WD40 repeat 583 - 674 IPR001680-6
domain Domain of unknown function DUF1899 3 - 64 IPR015048-1
domain Domain of unknown function DUF1899 466 - 532 IPR015048-2
conserved_site WD40 repeat, conserved site 610 - 624 IPR019775
repeat G-protein beta WD-40 repeat 93 - 107 IPR020472-1
repeat G-protein beta WD-40 repeat 141 - 155 IPR020472-2
repeat G-protein beta WD-40 repeat 610 - 624 IPR020472-3

Functions

Description
EC Number
Subcellular Localization
  • Golgi apparatus membrane
  • Golgi apparatus, trans-Golgi network
  • Cytoplasmic vesicle
  • Cytoplasm, cytosol
  • Predominantly cytosolic
  • Detected on vesicle-like cytoplasmic structures and on the cis-Golgi
  • Not associated with actin filaments
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
cytoplasmic vesicle A vesicle found in the cytoplasm of a cell.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
trans-Golgi network The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

2 GO annotations of molecular function

Name Definition
actin binding Binding to monomeric or multimeric forms of actin, including actin filaments.
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.

8 GO annotations of biological process

Name Definition
actin filament organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
actin filament polymerization Assembly of actin filaments by the addition of actin monomers to a filament.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
establishment of cell polarity The specification and formation of anisotropic intracellular organization or cell growth patterns.
Golgi organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
Golgi to endosome transport The directed movement of substances from the Golgi to early sorting endosomes. Clathrin vesicles transport substances from the trans-Golgi to endosomes.
positive regulation of hippo signaling Any process that activates or increases the frequency, rate or extent of hippo signaling.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q0V8F1 CORO7 Coronin-7 Bos taurus (Bovine) PR
Q9UQ03 CORO2B Coronin-2B Homo sapiens (Human) PR
Q9ULV4 CORO1C Coronin-1C Homo sapiens (Human) PR
Q6QEF8 CORO6 Coronin-6 Homo sapiens (Human) PR
Q9CQV1 Pam16 Mitochondrial import inner membrane translocase subunit TIM16 Mus musculus (Mouse) PR
Q9D2V7 Coro7 Coronin-7 Mus musculus (Mouse) PR
10 20 30 40 50 60
MNRFRVSKFR HTEARPPRRE SWISDIRAGT APSCRNHIKS SCSLIAFNSD RPGVLGIVPL
70 80 90 100 110 120
QGQGEDKRRV AHLGCHSDLV TDLDFSPFDD FLLATGSADR TVKLWRLPGP GQALPSAPGV
130 140 150 160 170 180
VLGPEDLPVE VLQFHPTSDG ILVSAAGTTV KVWDAAKQQP LTELAAHGDL VQSAVWSRDG
190 200 210 220 230 240
ALVGTACKDK QLRIFDPRTK PRASQSTQAH ENSRDSRLAW MGTWEHLVST GFNQMREREV
250 260 270 280 290 300
KLWDTRFFSS ALASLTLDTS LGCLVPLLDP DSGLLVLAGK GERQLYCYEV VPQQPALSPV
310 320 330 340 350 360
TQCVLESVLR GAALVPRQAL AVMSCEVLRV LQLSDTAIVP IGYHVPRKAV EFHEDLFPDT
370 380 390 400 410 420
AGCVPATDPH SWWAGDNQQV QKVSLNPACR PHPSFTSCLV PPAEPLPDTA QPAVMETPVG
430 440 450 460 470 480
DADASEGFSS PPSSLTSPST PSSLGPSLSS TSGIGTSPSL RSLQSLLGPS SKFRHAQGTV
490 500 510 520 530 540
LHRDSHITNL KGLNLTTPGE SDGFCANKLR VAVPLLSSGG QVAVLELRKP GRLPDTALPT
550 560 570 580 590 600
LQNGAAVTDL AWDPFDPHRL AVAGEDARIR LWRVPAEGLE EVLTTPETVL TGHTEKICSL
610 620 630 640 650 660
RFHPLAANVL ASSSYDLTVR IWDLQAGADR LKLQGHQDQI FSLAWSPDGQ QLATVCKDGR
670 680 690 700 710 720
VRVYRPRSGP EPLQEGPGPK GGRGARIVWV CDGRCLLVSG FDSQSERQLL LYEAEALAGG
730 740 750 760 770 780
PLAVLGLDVA PSTLLPSYDP DTGLVLLTGK GDTRVFLYEL LPESPFFLEC NSFTSPDPHK
790 800 810 820 830 840
GLVLLPKTEC DVREVELMRC LRLRQSSLEP VAFRLPRVRK EFFQDDVFPD TAVIWEPVLS
850 860 870 880 890 900
AEAWLQGANG QPWLLSLQPP DMSPVSQAPR EAPARRAPSS AQYLEEKSDQ QKKEELLNAM
910 920
VAKLGNREDP LPQDSFEGVD EDEWD