Descriptions

The C2-WW-HECT-domain E3 proteins downregulates transforming growth factor-β (TGF-β) signaling by targeting itself, the adaptor protein Smad7, and TGF-β receptor kinases for degradation. Like Smurf2, which exhibits the inhibitory C2 and HECT domain interaction, the full-length WWP2 enzyme shows low ubiquitination levels by the C2 domain. The level is significantly enhanced by deleting C2 domain.

Autoinhibitory domains (AIDs)

Target domain

516-868 (HECT domain)

Relief mechanism

Partner binding

Assay

Deletion assay, Structural analysis

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

11 structures for O00308

Entry ID Method Resolution Chain Position Source
4Y07 X-ray 251 A A 492-865 PDB
5TJ7 X-ray 260 A A/B/C/D 334-865 PDB
5TJ8 X-ray 230 A A 334-865 PDB
5TJQ X-ray 275 A A 334-865 PDB
6J1Z X-ray 270 A PDB
6RSS NMR - A 438-480 PDB
8EI5 X-ray 260 A A/B/C/D 492-865 PDB
8EI6 X-ray 362 A A/B 492-865 PDB
8EI7 X-ray 222 A A/B 492-865 PDB
8EI8 X-ray 290 A A 492-865 PDB
AF-O00308-F1 Predicted AlphaFoldDB

669 variants for O00308

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1364451433
CA396494357
2 A>V No ClinGen
TOPMed
gnomAD
rs1453271755
CA396494370
3 S>F No ClinGen
gnomAD
CA8136908
rs778621819
4 A>V No ClinGen
ExAC
gnomAD
rs936547731
CA283364272
5 S>N No ClinGen
TOPMed
gnomAD
CA8136909
rs752367875
6 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA8136910
rs752367875
6 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA8136913
rs746503953
8 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs746503953
CA8136912
8 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs142617495
CA8136911
8 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1353048537
CA396494440
11 V>L No ClinGen
TOPMed
gnomAD
CA396494467
rs1382186978
13 L>P No ClinGen
TOPMed
CA396494470
rs1337273288
14 P>T No ClinGen
TOPMed
CA8136914
rs150528209
17 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746313358
CA8136915
19 Q>H No ClinGen
ExAC
gnomAD
rs892120436
CA396494535
19 Q>L No ClinGen
gnomAD
rs892120436
CA283364322
19 Q>P No ClinGen
gnomAD
rs770299956
CA8136916
22 L>M No ClinGen
ExAC
gnomAD
rs1185929185
CA396494587
24 V>M No ClinGen
gnomAD
rs1567671817
CA396496686
25 V>A No ClinGen
Ensembl
CA396496702
rs1181677264
27 A>T No ClinGen
TOPMed
rs1480491390
CA396496766
30 K>N No ClinGen
TOPMed
gnomAD
CA396496779
rs1177901288
31 V>E No ClinGen
gnomAD
rs1597685788
CA396496814
33 N>K No ClinGen
Ensembl
CA8136930
rs751094487
33 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1036291469
CA283371031
COSM1493757
34 R>C kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
COSM972945
rs756797873
CA396496823
34 R>H endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs756797873
CA8136931
34 R>P No ClinGen
ExAC
gnomAD
CA8136933
rs548693533
37 R>* No ClinGen
1000Genomes
ExAC
gnomAD
rs548693533
CA8136934
37 R>G No ClinGen
1000Genomes
ExAC
gnomAD
rs143303340
CA8136935
37 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136936
rs143303340
37 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA283371051
rs892638537
38 I>V No ClinGen
TOPMed
gnomAD
CA8136938
rs774635737
40 S>A No ClinGen
ExAC
rs1312179363
CA396496979
40 S>F No ClinGen
gnomAD
COSM1168824
rs1011375134
CA283371070
42 V>M pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
CA8136940
rs140261430
45 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136943
rs765133692
47 D>N No ClinGen
ExAC
gnomAD
rs372438560
CA8136944
49 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136945
rs150059700
50 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA283371125
rs764855295
51 S>I No ClinGen
gnomAD
rs764855295
CA396497256
51 S>T No ClinGen
gnomAD
rs1432559787
CA396497310
53 T>I No ClinGen
gnomAD
COSM242274
rs1166415028
CA396497298
53 T>S prostate [Cosmic] No ClinGen
cosmic curated
TOPMed
rs763732833
CA8136946
54 K>Q No ClinGen
ExAC
gnomAD
CA8136947
rs751241119
58 K>R No ClinGen
ExAC
gnomAD
rs367837270
CA8136948
59 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM435637
rs1029698891
CA396497439
59 R>H breast [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA283371190
rs1029698891
59 R>L No ClinGen
TOPMed
gnomAD
rs1291907818
CA396497455
60 I>N No ClinGen
gnomAD
rs1291907818
CA396497458
60 I>T No ClinGen
gnomAD
rs767090543
CA8136949
60 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA396497492
rs1366961267
62 S>I No ClinGen
TOPMed
gnomAD
CA396497490
rs1366961267
62 S>N No ClinGen
TOPMed
gnomAD
rs749921377
CA8136950
64 E>* No ClinGen
ExAC
rs756734868
CA8136951
68 N>D No ClinGen
ExAC
gnomAD
rs1228136849
CA396497626
70 I>F No ClinGen
gnomAD
rs780694295
CA8136953
70 I>N No ClinGen
ExAC
gnomAD
rs780694295
CA8136952
70 I>S No ClinGen
ExAC
gnomAD
rs779096737
CA8136955
72 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs779096737
CA8136956
72 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA8136954
rs755380901
72 I>V No ClinGen
ExAC
gnomAD
CA8136977
rs777963501
74 N>K No ClinGen
ExAC
gnomAD
rs1020613769
CA283371509
74 N>S No ClinGen
Ensembl
rs375318503
COSM1640539
CA8136978
76 T>M stomach [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
rs1597686717
CA396497905
77 A>V No ClinGen
Ensembl
rs1419895221
CA396497926
78 Q>H No ClinGen
TOPMed
gnomAD
CA8136981
rs749282458
79 S>C No ClinGen
ExAC
gnomAD
CA396497950
rs1332710332
80 H>N No ClinGen
TOPMed
CA396497961
rs1449427768
80 H>R No ClinGen
TOPMed
CA396498000
rs1386521134
82 D>G No ClinGen
gnomAD
rs768451025
CA8136982
83 L>* No ClinGen
ExAC
CA396498063
rs1457217205
86 W>* No ClinGen
gnomAD
CA283371529
rs74374911
86 W>G No ClinGen
Ensembl
rs761500926
CA396498072
87 S>G No ClinGen
ExAC
gnomAD
CA8136984
rs761500926
87 S>R No ClinGen
ExAC
gnomAD
rs771918775
CA8136985
87 S>T No ClinGen
ExAC
gnomAD
CA396498141
rs1392761618
91 L>F No ClinGen
TOPMed
CA8136986
rs773005230
93 N>S No ClinGen
ExAC
gnomAD
rs1378065797
CA396498218
96 L>P No ClinGen
gnomAD
rs981743053
CA283371535
97 G>R No ClinGen
Ensembl
rs369381187
CA8136989
99 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136990
rs760137313
102 N>S No ClinGen
ExAC
gnomAD
CA396498297
rs1444002159
105 N>S No ClinGen
TOPMed
gnomAD
rs373154084
CA8136991
105 N>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1236671336
CA396498300
106 V>I No ClinGen
TOPMed
gnomAD
rs758691107
CA8136993
110 N>S No ClinGen
ExAC
gnomAD
rs1466934089
CA396498348
112 G>C No ClinGen
TOPMed
CA8136995
rs375272256
112 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8137022
rs377573067
114 M>I No ClinGen
ESP
ExAC
gnomAD
rs777756000
CA8137023
115 E>G No ClinGen
ExAC
CA8137024
rs201858298
117 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1466679267
CA396496884
118 Q>P No ClinGen
gnomAD
CA396496967
rs1207354868
122 N>S No ClinGen
gnomAD
rs770773964
CA8137025
123 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA396496973
rs1445644933
123 L>Q No ClinGen
gnomAD
rs776151376
CA8137026
124 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA8137027
rs530023292
125 T>M No ClinGen
ExAC
gnomAD
rs189041230
CA8137029
127 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8137030
rs763493082
127 N>S No ClinGen
ExAC
gnomAD
CA396497116
rs1313360451
129 G>C No ClinGen
Ensembl
CA396497119
rs1318486836
129 G>D No ClinGen
gnomAD
CA8137032
rs143354391
131 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762164829
CA8137033
133 S>P No ClinGen
ExAC
gnomAD
CA396497242
rs1289114218
135 G>R No ClinGen
TOPMed
gnomAD
rs756318143
CA8137036
138 T>K No ClinGen
ExAC
gnomAD
rs371454354
CA8137037
139 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA283385081
rs1045373180
142 D>H No ClinGen
TOPMed
gnomAD
rs1315198496
CA396497410
COSM95538
143 G>R breast [Cosmic] No ClinGen
cosmic curated
TOPMed
rs939588067
CA283385087
144 P>A No ClinGen
TOPMed
CA8137039
rs141633678
147 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1169263013
CA396497596
150 N>I No ClinGen
TOPMed
rs1028535458
CA283385096
153 N>D No ClinGen
TOPMed
gnomAD
CA396497659
rs1186436635
154 G>D No ClinGen
gnomAD
rs1412186817
CA396497695
156 A>D No ClinGen
gnomAD
CA8137041
rs200683787
158 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs200683787
CA396497716
158 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs757130733
CA8137042
159 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA8137043
rs757130733
159 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA396497723
rs1473094766
159 D>H No ClinGen
TOPMed
rs1473094766
CA396497720
159 D>N No ClinGen
TOPMed
rs759693369
CA8137058
160 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA283385695
rs546382050
161 S>L No ClinGen
1000Genomes
CA396498392
rs1307538180
164 P>L No ClinGen
gnomAD
CA8137060
rs751563099
165 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA283385708
rs887750271
168 S>A No ClinGen
Ensembl
CA8137062
rs780890962
168 S>C No ClinGen
ExAC
gnomAD
CA8137063
rs750211901
169 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA8137064
rs755782083
170 G>R No ClinGen
ExAC
gnomAD
CA8137065
rs779677207
171 T>R No ClinGen
ExAC
gnomAD
CA8137066
rs147074353
172 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768171630
CA8137067
172 A>V No ClinGen
ExAC
TOPMed
rs1202553262
CA396498446
174 A>T No ClinGen
gnomAD
rs1250376496
CA396498456
175 P>L No ClinGen
TOPMed
gnomAD
rs138285985
CA283385737
178 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8137070
rs138285985
178 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs184547498
CA8137069
178 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396498475
rs1432509190
179 H>Y No ClinGen
gnomAD
rs1391749884
CA396498487
180 Q>R No ClinGen
gnomAD
CA283385748
rs1030160821
182 P>L No ClinGen
TOPMed
gnomAD
CA8137074
rs768917989
183 S>N No ClinGen
ExAC
gnomAD
rs1390718988
CA396498513
184 T>R No ClinGen
gnomAD
rs759782275
CA8137075
185 N>D No ClinGen
ExAC
gnomAD
CA396498534
rs765437085
187 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs765437085
CA8137076
187 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1228066849
CA396498547
189 G>A No ClinGen
gnomAD
rs1301867941
CA396498551
190 R>K No ClinGen
TOPMed
gnomAD
rs752795485
CA8137077
191 S>T No ClinGen
ExAC
gnomAD
CA8137080
rs750253078
192 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8137079
rs201287506
192 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8137100
rs773218849
193 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs559742728
CA8137099
193 T>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1457168029
CA396504013
196 H>Y No ClinGen
gnomAD
RCV000896577
CA8137103
rs143156114
197 S>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8137105
rs764860976
198 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1326512812
CA396504070
200 S>L No ClinGen
TOPMed
rs1300726872
CA396504087
201 A>P No ClinGen
gnomAD
CA8137106
rs752219825
203 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA396504157
rs1289664104
204 T>I No ClinGen
gnomAD
CA396504144
rs1597087925
204 T>P No ClinGen
Ensembl
CA396504164
rs777097298
205 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA8137108
rs777097298
205 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1006317101
CA283397418
207 T>A No ClinGen
TOPMed
rs1381840572
CA396504199
207 T>I No ClinGen
TOPMed
rs1207691765
CA396504206
208 G>D No ClinGen
gnomAD
CA8137110
rs757805460
208 G>S No ClinGen
ExAC
gnomAD
CA8137112
rs746223579
209 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs770208052
CA8137113
210 Q>H No ClinGen
ExAC
gnomAD
CA396504257
rs1597088014
211 S>G No ClinGen
Ensembl
CA396504287
rs1192320841
212 P>A No ClinGen
TOPMed
rs1215595478
CA396504296
213 G>A No ClinGen
TOPMed
CA283397466
rs371719288
213 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8137115
rs371719288
213 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396504614
rs1192305533
214 A>V No ClinGen
gnomAD
rs139932753
CA396504619
215 R>P No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs139932753
CA8137117
215 R>Q No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs145994314
CA8137116
215 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1374545787
CA396504648
217 R>L No ClinGen
gnomAD
CA396504646
rs1374545787
217 R>Q No ClinGen
gnomAD
CA8137118
COSM130234
rs760710036
217 R>W upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1429963947
CA396504658
218 H>P No ClinGen
gnomAD
CA396504660
rs1429963947
218 H>R No ClinGen
gnomAD
CA8137119
rs766287861
219 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs776475086
CA8137120
219 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA396504702
rs755244675
222 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA8137122
rs755244675
222 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1454177746
CA396504717
223 K>R No ClinGen
TOPMed
CA396504732
rs1309427340
224 N>S No ClinGen
gnomAD
rs113797383
CA8137124
226 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396504751
rs1343185158
226 G>S No ClinGen
gnomAD
CA396504759
rs113797383
226 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763698650
CA8137125
227 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA396504779
rs1437321375
228 S>N No ClinGen
gnomAD
CA8137127
rs369812987
229 G>D No ClinGen
ExAC
gnomAD
CA8137126
rs751010011
229 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA283397523
rs369812987
229 G>V No ClinGen
ExAC
gnomAD
rs1000823195
CA283397527
230 L>F No ClinGen
gnomAD
CA396504799
rs1477324474
230 L>M No ClinGen
TOPMed
gnomAD
rs1477324474
CA396504801
230 L>V No ClinGen
TOPMed
gnomAD
rs781763876
CA8137128
231 A>T No ClinGen
ExAC
gnomAD
rs756561198
CA8137130
232 N>K No ClinGen
ExAC
gnomAD
CA8137129
rs568343453
232 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1393786323
CA396504855
234 T>A No ClinGen
gnomAD
rs1265732945
CA396504860
234 T>I No ClinGen
TOPMed
rs369653281
CA8137149
236 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755292551
CA8137150
237 D>V No ClinGen
ExAC
gnomAD
CA8137151
rs779004802
238 E>D No ClinGen
ExAC
gnomAD
rs1008899250
CA283407957
238 E>K No ClinGen
Ensembl
rs965886448
CA283407958
239 P>L No ClinGen
TOPMed
rs1269334349
CA396507639
240 T>K No ClinGen
TOPMed
gnomAD
rs1269334349
CA396507641
240 T>R No ClinGen
TOPMed
gnomAD
rs748307426
CA8137152
241 T>P No ClinGen
ExAC
gnomAD
CA8137153
rs182311713
242 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs182311713
CA8137154
242 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745845066
CA8137155
243 T>A No ClinGen
ExAC
gnomAD
CA396507697
rs1446112161
243 T>I No ClinGen
gnomAD
rs1238783413
CA396507710
244 D>H No ClinGen
gnomAD
CA8137158
rs762653214
246 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8137159
rs768433959
247 E>A No ClinGen
ExAC
gnomAD
rs1597112421
CA396507802
248 P>L No ClinGen
Ensembl
CA8137161
COSM435638
rs139052693
250 V>I breast [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs867582987
CA283408022
251 V>F No ClinGen
Ensembl
rs910129729
CA396507940
252 G>D No ClinGen
TOPMed
gnomAD
rs910129729
CA283408038
252 G>V No ClinGen
TOPMed
gnomAD
rs143752055
CA283408059
254 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs143752055
CA8137163
254 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1336404262
CA396507988
254 T>S No ClinGen
gnomAD
rs1289060705
CA396508021
256 P>A No ClinGen
gnomAD
CA8137165
rs766785766
256 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs766785766
CA396508026
256 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs754301169
CA8137166
257 P>S No ClinGen
ExAC
gnomAD
CA283408089
rs937621004
258 A>G No ClinGen
TOPMed
gnomAD
CA396508063
rs937621004
258 A>V No ClinGen
TOPMed
gnomAD
CA8137168
rs765584431
262 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA396508171
rs1311491028
263 V>M No ClinGen
TOPMed
CA396508222
rs1186655507
264 T>N No ClinGen
gnomAD
COSM1379258
rs78426175
CA8137171
265 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA283408116
rs950225565
266 N>K No ClinGen
TOPMed
rs756144699
CA8137173
266 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1400121864
CA396508275
266 N>Y No ClinGen
TOPMed
CA283408118
rs977924804
268 N>Y No ClinGen
Ensembl
CA396508355
rs1466372901
269 T>M No ClinGen
gnomAD
rs1220211533
CA396508396
271 S>F No ClinGen
gnomAD
CA396508394
rs1220211533
271 S>Y No ClinGen
gnomAD
rs749192267
CA8137175
272 L>F No ClinGen
ExAC
gnomAD
CA396508406
rs1434304344
272 L>P No ClinGen
gnomAD
CA283408140
rs1034726261
273 P>H No ClinGen
Ensembl
rs1177327813
CA396508472
275 P>L No ClinGen
TOPMed
rs1352426825
CA396508458
275 P>S No ClinGen
gnomAD
CA8137177
rs199723151
277 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372589501
CA8137179
278 P>L No ClinGen
ESP
ExAC
gnomAD
CA396508521
rs1306936044
278 P>S No ClinGen
gnomAD
rs777023336
CA8137183
279 A>G No ClinGen
ExAC
gnomAD
rs544471484
CA8137182
279 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760045066
CA8137184
281 G>R No ClinGen
ExAC
gnomAD
CA396508624
rs1274864425
282 E>G No ClinGen
gnomAD
CA8137185
rs765629014
283 E>A No ClinGen
ExAC
gnomAD
rs753038154
CA8137186
284 P>S No ClinGen
ExAC
gnomAD
rs201890122
CA8137187
285 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1597112795
CA396508713
286 T>P No ClinGen
Ensembl
rs751715302
CA8137189
287 S>L No ClinGen
ExAC
gnomAD
CA8137188
rs764294633
287 S>P No ClinGen
ExAC
gnomAD
CA396508773
rs1453516649
288 G>V No ClinGen
gnomAD
CA8137191
rs781284452
289 T>I No ClinGen
ExAC
gnomAD
rs1372582333
CA396508802
290 Q>E No ClinGen
gnomAD
rs74460098
CA283408203
291 Q>P No ClinGen
TOPMed
gnomAD
rs74460098
CA396508845
291 Q>R No ClinGen
TOPMed
gnomAD
CA8137192
rs749215554
294 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs749215554
COSM1232887
CA8137193
294 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1389011806
CA396508953
296 A>D No ClinGen
TOPMed
gnomAD
rs778905446
CA8137196
296 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs778905446
CA283408218
296 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1389011806
CA396508949
296 A>V No ClinGen
TOPMed
gnomAD
rs1324411732
CA396508958
297 Q>* No ClinGen
gnomAD
rs747946536
CA396508959
297 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs747946536
CA8137197
297 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA8137198
rs771920744
298 A>G No ClinGen
ExAC
gnomAD
rs1309973526
CA396508972
298 A>T No ClinGen
TOPMed
CA8137201
rs770374654
300 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8137202
rs770374654
300 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs770269846
CA8137204
301 A>T No ClinGen
ExAC
gnomAD
rs1567408798
CA396509059
301 A>V No ClinGen
Ensembl
CA283408246
rs113481675
302 L>P No ClinGen
Ensembl
rs775898714
CA396509075
302 L>V No ClinGen
ExAC
gnomAD
rs920861841
CA283408255
304 A>P No ClinGen
Ensembl
rs777668170
CA8137218
308 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA396511038
rs1206211338
309 R>* No ClinGen
gnomAD
CA8137219
rs746677032
309 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8137222
rs141794731
313 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8137224
rs775990884
314 G>R No ClinGen
ExAC
gnomAD
CA8137225
rs377619443
315 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769042617
CA8137226
315 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8137227
rs774748100
317 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs774748100
CA396511255
317 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs761993448
CA8137228
322 N>D No ClinGen
ExAC
gnomAD
rs562325074
CA8137229
324 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396511488
rs1307796678
324 K>R No ClinGen
TOPMed
CA396511506
rs1368724214
325 T>S No ClinGen
TOPMed
rs1241086924
CA396511594
328 W>C No ClinGen
gnomAD
rs1290872650
CA396511585
328 W>S No ClinGen
gnomAD
rs766514705
CA8137233
330 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs766514705
COSM1232885
CA8137232
330 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8137231
rs529312655
330 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758377169
CA8137234
332 L>F No ClinGen
ExAC
gnomAD
CA396511693
rs1314915081
334 P>A No ClinGen
gnomAD
rs1206637433
CA396513934
COSM972947
339 R>C endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
CA396513936
rs1231745895
339 R>H No ClinGen
gnomAD
rs755734366
CA8137261
341 D>G No ClinGen
ExAC
gnomAD
CA396513982
rs983095247
343 R>* No ClinGen
TOPMed
gnomAD
rs983095247
CA283382877
343 R>G No ClinGen
TOPMed
gnomAD
rs367812535
CA8137262
343 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396513991
rs1452919157
344 G>R No ClinGen
gnomAD
CA396514013
rs1171368651
345 R>S No ClinGen
TOPMed
gnomAD
CA396514057
rs1330302815
348 Y>C No ClinGen
TOPMed
gnomAD
rs1330302815
CA396514056
348 Y>F No ClinGen
TOPMed
gnomAD
CA8137264
rs755506667
348 Y>H No ClinGen
ExAC
gnomAD
rs748549161
CA8137266
349 V>M No ClinGen
ExAC
CA8137267
rs772514474
352 N>S No ClinGen
ExAC
gnomAD
rs1372947769
CA396514114
354 R>Q No ClinGen
gnomAD
CA8137268
rs773413103
354 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA283382906
rs552329158
356 T>I No ClinGen
Ensembl
CA8137270
rs371532664
360 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371532664
CA8137269
360 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776915745
CA8137271
360 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs374069767
CA8137272
361 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8137275
rs761615562
363 A>T No ClinGen
ExAC
gnomAD
rs1222991739
CA396514169
363 A>V No ClinGen
gnomAD
rs767387248
CA8137276
364 E>D No ClinGen
ExAC
gnomAD
rs147694100
CA8137279
366 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8137280
rs766017753
367 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1416798576
CA396514196
368 N>D No ClinGen
gnomAD
rs1408819627
CA396514199
368 N>S No ClinGen
gnomAD
rs1165564009
CA396514204
369 Y>H No ClinGen
gnomAD
rs1597157907
CA396514246
374 S>A No ClinGen
Ensembl
rs753426948
CA8137281
374 S>L No ClinGen
ExAC
gnomAD
rs753283106
CA8137284
375 Q>R No ClinGen
ExAC
gnomAD
CA8137286
rs778337264
376 R>Q No ClinGen
ExAC
gnomAD
rs758807244
CA8137285
376 R>W No ClinGen
ExAC
gnomAD
CA8137287
rs372845231
378 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1338830426
CA396514278
379 L>P No ClinGen
gnomAD
CA396514285
rs1597157960
380 Q>L No ClinGen
Ensembl
rs771352727
CA8137289
381 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs771352727
CA8137288
381 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA283382962
rs867498351
382 A>V No ClinGen
Ensembl
CA396514305
rs1157206656
383 M>I No ClinGen
TOPMed
rs971014815
CA283382966
384 Q>H No ClinGen
TOPMed
rs1386239465
CA396514336
387 S>R No ClinGen
TOPMed
rs1163422954
CA396514343
388 Q>H No ClinGen
TOPMed
rs746038424
CA8137290
390 F>C No ClinGen
ExAC
gnomAD
CA396514370
rs1213501184
392 Y>F No ClinGen
gnomAD
CA8137292
rs200857360
393 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1187147018
CA396515126
394 S>F No ClinGen
gnomAD
rs749326066
CA8137311
394 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs773149907
CA8137313
395 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA8137312
rs768658691
395 S>P No ClinGen
ExAC
gnomAD
CA283385940
rs891887656
COSM417299
398 S>L urinary_tract [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1435545957
CA396515193
399 T>I No ClinGen
gnomAD
CA8137316
rs776384837
400 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA8137317
rs143999663
401 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764790347
CA8137318
403 P>A No ClinGen
ExAC
gnomAD
rs1424717017
CA396515253
403 P>L No ClinGen
gnomAD
CA8137319
rs752326277
405 G>D No ClinGen
ExAC
gnomAD
CA396515286
rs1237418760
406 P>A No ClinGen
gnomAD
rs1279302871
CA396515294
COSM1709334
406 P>L skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs201105755
CA283385954
407 L>F No ClinGen
gnomAD
COSM3818382
CA283385957
rs751603209
409 P>A breast [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1295794733
CA396516290
412 E>V No ClinGen
gnomAD
rs1566452
CA396516299
413 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396516300
rs1566452
413 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396516303
rs1224537283
414 R>K No ClinGen
gnomAD
CA396516312
rs1334090940
415 Q>R No ClinGen
TOPMed
CA8137351
rs758404167
416 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA8137352
rs199513055
418 G>E No ClinGen
1000Genomes
ExAC
gnomAD
CA8137354
rs769507581
419 R>L No ClinGen
ExAC
gnomAD
CA8137355
rs769507581
419 R>Q No ClinGen
ExAC
gnomAD
rs745580617
CA8137353
419 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs768411191
CA8137357
420 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs768411191
CA396516338
420 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs761414227
CA8137359
422 Y>F No ClinGen
ExAC
gnomAD
CA396516358
rs773617409
423 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8137361
rs773617409
423 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA283390575
rs527319187
426 N>S No ClinGen
1000Genomes
CA396516394
rs1163346636
428 R>C No ClinGen
gnomAD
CA8137362
rs779707234
428 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs779707234
CA8137363
428 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA396516423
rs1289099681
432 W>C No ClinGen
gnomAD
rs1039810522
CA283390579
433 E>G No ClinGen
TOPMed
CA8137365
rs759817643
436 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs904083638
CA283390581
436 R>Q No ClinGen
TOPMed
gnomAD
rs759817643
CA396516446
436 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA396516450
rs1356061661
437 T>A No ClinGen
gnomAD
CA396516499
rs1297452854
442 Q>* No ClinGen
TOPMed
rs780046309
CA8137392
445 A>P No ClinGen
ExAC
gnomAD
CA283390811
rs1002396463
448 P>R No ClinGen
Ensembl
CA8137394
rs754845564
448 P>T No ClinGen
ExAC
gnomAD
rs1215003538
CA396516544
449 G>A No ClinGen
TOPMed
CA8137395
rs369279393
456 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8137397
rs77786756
457 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8137398
rs777211564
459 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs746530540
COSM304460
CA8137399
460 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8137400
rs770286512
466 N>S No ClinGen
ExAC
gnomAD
rs777143460
CA8137401
468 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs759088222
CA8137402
468 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1207279224
CA396516678
469 T>S No ClinGen
gnomAD
rs1457646885
CA396516727
476 R>C No ClinGen
gnomAD
rs1194651524
CA396516728
476 R>H No ClinGen
gnomAD
COSM3795062
rs372517256
CA8137403
477 P>L urinary_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8137405
rs762597985
479 F>C No ClinGen
ExAC
gnomAD
rs370457139
CA8137406
480 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8137408
rs761794916
481 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs144932234
CA8137407
481 S>T No ClinGen
ESP
ExAC
rs138661773
CA8137426
COSM435640
483 T>M breast [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs761550151
CA8137427
485 Q>R No ClinGen
ExAC
gnomAD
rs767519385
CA396516801
486 G>D No ClinGen
ExAC
gnomAD
CA8137428
rs767519385
486 G>V No ClinGen
ExAC
gnomAD
CA396516814
rs1337105711
488 P>R No ClinGen
gnomAD
CA396516809
rs1333168819
488 P>T No ClinGen
gnomAD
COSM3771996
rs759626310
CA8137430
490 A>S pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA283391208
rs1035707027
493 R>C No ClinGen
TOPMed
gnomAD
rs752781641
CA8137432
494 S>N No ClinGen
ExAC
gnomAD
CA396516858
rs1260439318
495 F>C No ClinGen
gnomAD
rs1260439318
CA396516859
495 F>S No ClinGen
gnomAD
rs758627189
CA8137433
496 R>Q No ClinGen
ExAC
gnomAD
COSM972950
rs1477186513
CA396516863
496 R>W endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1464979922
CA396516879
498 K>R No ClinGen
TOPMed
rs751914087
CA8137435
501 Q>R No ClinGen
ExAC
gnomAD
CA396516909
rs1402684742
502 F>Y No ClinGen
gnomAD
CA8137437
rs781621999
503 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1359990568
CA396516916
503 R>H No ClinGen
gnomAD
CA396516941
rs1415417387
507 H>Y No ClinGen
gnomAD
CA8137470
rs777692533
509 N>T No ClinGen
ExAC
gnomAD
CA396516978
rs1175703711
510 A>V No ClinGen
gnomAD
CA283391406
rs985519428
512 P>L No ClinGen
Ensembl
CA396517006
rs763033318
515 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs763033318
CA8137474
515 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs774557900
CA8137476
518 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA8137475
rs768622976
518 S>R No ClinGen
ExAC
gnomAD
CA8137479
rs750753479
519 V>A No ClinGen
ExAC
gnomAD
CA8137478
rs767774692
519 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA283391414
rs111926603
COSM1679231
520 S>F haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
Ensembl
rs761056397
CA8137480
523 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA8137481
rs766857670
523 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs761056397
CA396517056
523 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA8137483
rs754439907
524 L>P No ClinGen
ExAC
gnomAD
rs913146723
CA283391420
526 E>K No ClinGen
gnomAD
rs945994238
CA283391423
529 F>V No ClinGen
Ensembl
rs567331277
CA8137485
530 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1567441417
CA396517108
531 Q>* No ClinGen
Ensembl
rs779996006
CA8137510
532 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs748174440
CA8137511
533 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs938389762
CA283391542
535 M>T No ClinGen
TOPMed
gnomAD
CA8137512
rs772150301
536 K>* No ClinGen
ExAC
gnomAD
CA396517162
rs1597180587
536 K>N No ClinGen
Ensembl
CA396517171
rs1372022508
538 Y>H No ClinGen
Ensembl
rs1487384539
CA396517178
539 D>N No ClinGen
gnomAD
rs773352487
CA8137514
540 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs577656898
CA8137515
541 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776834403
CA8137516
541 R>H No ClinGen
ExAC
gnomAD
CA396517196
rs1180568357
542 R>C No ClinGen
TOPMed
gnomAD
CA8137517
rs139105338
542 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139105338
CA396517197
542 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765616095
CA8137518
543 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1419974931
CA396517200
543 R>W No ClinGen
gnomAD
CA396517203
rs1417398271
544 L>I No ClinGen
gnomAD
CA283391566
rs372083781
545 Y>C No ClinGen
Ensembl
CA396517220
rs1376045181
546 I>N No ClinGen
gnomAD
rs1157494803
CA396517217
546 I>V No ClinGen
gnomAD
CA283391567
rs945746204
COSM286553
549 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA8137520
rs762488499
549 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs763693568
CA8137521
551 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA396517267
rs1184705274
553 G>D No ClinGen
TOPMed
rs1251666016
CA396517294
557 G>E No ClinGen
TOPMed
CA8137523
rs756837378
559 I>V No ClinGen
ExAC
gnomAD
rs202095634
COSM1519751
CA8137525
560 A>S lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs202095634
CA8137526
560 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396517315
rs1208639902
561 R>K No ClinGen
gnomAD
CA396517351
rs1597185119
564 F>V No ClinGen
Ensembl
rs1018000193
CA283392418
565 F>L No ClinGen
TOPMed
gnomAD
rs2270841
CA396517387
569 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396517383
rs1466567410
569 H>Y No ClinGen
gnomAD
CA8137580
rs770525394
575 M>T No ClinGen
ExAC
gnomAD
rs371834471
CA283392421
577 C>S No ClinGen
ESP
gnomAD
rs866546819
CA283392425
582 A>V No ClinGen
Ensembl
CA8137585
rs775208468
583 G>E No ClinGen
ExAC
gnomAD
CA8137584
rs190041711
583 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762925299
CA8137586
584 K>R No ClinGen
ExAC
gnomAD
rs1324848295
CA396517502
586 N>D No ClinGen
TOPMed
rs763978892
CA8137587
586 N>S No ClinGen
ExAC
gnomAD
rs78843422
CA283392432
587 Y>S No ClinGen
Ensembl
CA396517518
rs1218033615
588 C>Y No ClinGen
TOPMed
CA283392438
rs201620630
592 N>K No ClinGen
1000Genomes
rs1597185294
CA396517546
592 N>T No ClinGen
Ensembl
rs1430848532
CA396517552
593 P>S No ClinGen
Ensembl
rs1296550431
CA396517587
598 N>K No ClinGen
gnomAD
CA8137592
rs755314912
COSM1679232
599 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA396517591
rs1433908388
599 P>S No ClinGen
gnomAD
rs748506233
CA8137594
601 H>Q No ClinGen
ExAC
gnomAD
rs758903595
CA8137595
602 L>I No ClinGen
ExAC
gnomAD
CA8137596
rs778168809
604 Y>C No ClinGen
ExAC
gnomAD
rs565065326
CA8137597
606 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs565065326
CA396517635
606 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8137599
rs776194189
606 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs565065326
CA8137598
606 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1360737507
CA396517672
611 F>L No ClinGen
gnomAD
rs1324982324
CA396517676
612 I>V No ClinGen
gnomAD
CA8137600
rs745507601
613 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs779594319
CA8137619
615 A>V No ClinGen
ExAC
gnomAD
rs200119284
CA8137623
620 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776819186
CA8137625
623 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8137627
rs765444857
624 T>M No ClinGen
ExAC
gnomAD
COSM233780
rs764431749
CA8137630
628 L>F skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs746439395
CA396517828
633 R>G No ClinGen
ExAC
gnomAD
rs757731089
CA8137632
633 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8137631
rs746439395
633 R>W No ClinGen
ExAC
gnomAD
rs1160174950
CA396517833
634 M>L No ClinGen
TOPMed
CA8137634
rs749901201
636 N>S No ClinGen
ExAC
gnomAD
CA8137635
rs755590878
641 L>P No ClinGen
ExAC
gnomAD
rs1382282163
CA396517901
644 L>V No ClinGen
gnomAD
rs1406329153
CA396517939
649 P>L No ClinGen
TOPMed
CA8137641
rs747991829
652 Y>F No ClinGen
ExAC
gnomAD
rs1351517836
CA396517957
652 Y>H No ClinGen
gnomAD
CA396517973
rs1257087320
654 S>P No ClinGen
gnomAD
CA396518010
rs1484483718
659 K>R No ClinGen
gnomAD
CA8137662
rs746911936
662 N>H No ClinGen
ExAC
gnomAD
rs1370625621
CA396518046
662 N>S No ClinGen
TOPMed
rs770953604
CA8137663
663 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA8137664
rs775403071
665 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8137665
rs749418137
665 E>V No ClinGen
ExAC
gnomAD
rs768819897
CA8137666
666 C>R No ClinGen
ExAC
gnomAD
rs774571665
CA8137667
666 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8137668
rs551616659
667 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1246787362
CA396518077
667 G>V No ClinGen
TOPMed
gnomAD
rs767862694
CA396518113
673 I>F No ClinGen
ExAC
gnomAD
rs767862694
CA396518112
673 I>L No ClinGen
ExAC
gnomAD
rs767862694
CA8137669
673 I>V No ClinGen
ExAC
gnomAD
CA8137671
rs761063633
676 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA396518137
rs1478046533
676 M>T No ClinGen
gnomAD
CA8137670
rs773683409
676 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA8137672
rs766945833
677 E>A No ClinGen
ExAC
gnomAD
rs1409644973
CA396518146
677 E>D No ClinGen
gnomAD
CA8137673
rs753243617
678 I>T No ClinGen
ExAC
gnomAD
CA8137674
rs371214769
683 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs117637107
CA8137678
686 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs117637107
COSM249421
CA8137677
686 E>Q kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1195214760
CA396518209
688 K>Q No ClinGen
TOPMed
rs1290128886
CA396518231
COSM1232888
691 G>S large_intestine breast [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8137683
rs182111599
692 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8137685
rs748356463
693 S>C No ClinGen
ExAC
gnomAD
rs891536959
CA283393912
694 I>M No ClinGen
Ensembl
CA396518259
rs374450870
695 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8137686
rs374450870
695 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396518258
rs1394965484
695 R>W No ClinGen
gnomAD
rs773414786
CA8137687
697 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs771291958
CA8137689
699 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA396518291
rs1314202819
700 N>S No ClinGen
TOPMed
CA283393944
rs1045505545
705 I>V No ClinGen
Ensembl
CA396518337
rs1422063592
706 M>T No ClinGen
TOPMed
gnomAD
rs936714284
CA283394566
711 W>G No ClinGen
TOPMed
CA396518390
rs1400536782
712 R>H No ClinGen
TOPMed
gnomAD
CA396518403
rs760810777
714 T>N No ClinGen
gnomAD
CA283394571
rs760810777
714 T>S No ClinGen
gnomAD
CA8137720
rs758516062
715 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1567447241
CA396518417
717 V>E No ClinGen
Ensembl
CA8137722
COSM23456
rs747244483
717 V>M skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA396518428
rs140980306
719 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8137723
rs140980306
719 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1222637654
CA396518450
722 K>E No ClinGen
gnomAD
rs746270452
CA8137725
722 K>R No ClinGen
ExAC
gnomAD
CA396518457
rs770375571
723 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA8137726
rs770375571
723 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8137727
rs776155666
724 F>L No ClinGen
ExAC
gnomAD
CA283394626
rs918825576
725 L>P No ClinGen
TOPMed
gnomAD
CA283394627
rs930208605
726 D>G No ClinGen
TOPMed
gnomAD
CA283394648
rs573540603
730 E>D No ClinGen
1000Genomes
gnomAD
CA8137729
rs768209450
732 A>V No ClinGen
ExAC
gnomAD
rs761502608
CA8137731
733 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs761502608
CA8137732
733 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs773789065
CA8137730
733 P>S No ClinGen
ExAC
gnomAD
rs766242992
CA8137735
734 L>M No ClinGen
ExAC
gnomAD
CA396518536
rs1597191427
736 W>G No ClinGen
Ensembl
CA396518544
rs942902245
737 L>V No ClinGen
Ensembl
rs753776280
CA8137737
738 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8137736
rs753776280
738 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs897039134
CA283394679
738 R>H No ClinGen
TOPMed
gnomAD
CA8137739
rs751634416
739 Y>* No ClinGen
ExAC
CA283394688
rs1039747502
739 Y>C No ClinGen
gnomAD
rs1567447415
CA396518561
740 F>S No ClinGen
Ensembl
rs1011526276
CA283394706
COSM248364
742 E>K prostate [Cosmic] No ClinGen
cosmic curated
Ensembl
rs771571733
CA8137767
748 M>V No ClinGen
ExAC
gnomAD
CA396518646
rs1288097279
751 G>S No ClinGen
gnomAD
CA8137769
rs571751303
753 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396518668
rs1334898662
754 E>K No ClinGen
gnomAD
rs1314714691
CA396518682
755 I>M No ClinGen
Ensembl
CA396518686
rs1382210674
756 D>A No ClinGen
gnomAD
rs770613073
CA283395049
757 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA8137771
rs776450176
757 M>T No ClinGen
ExAC
gnomAD
CA8137770
rs770613073
757 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA283395061
rs201469783
758 S>N No ClinGen
TOPMed
gnomAD
rs144843054
CA8137773
COSM1232886
759 D>N large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8137774
rs775294892
763 S>N No ClinGen
ExAC
gnomAD
rs760947004
CA8137778
767 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8137777
rs370632943
767 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8137779
rs766540283
768 H>D No ClinGen
ExAC
gnomAD
rs1378003553
CA396518773
768 H>Q No ClinGen
gnomAD
rs1335017877
CA396518786
770 T>S No ClinGen
gnomAD
rs1447729912
CA396518799
772 N>S No ClinGen
gnomAD
CA8137782
rs35059847
777 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1475609729
CA396518898
783 V>A No ClinGen
gnomAD
CA283396108
rs1047298531
784 K>E No ClinGen
TOPMed
rs1417602300
CA396518903
784 K>R No ClinGen
gnomAD
COSM4129250
rs756764558
CA8137805
786 M>I thyroid [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs751012894
CA8137804
786 M>V No ClinGen
ExAC
gnomAD
CA396518938
rs1303014286
789 E>K No ClinGen
gnomAD
CA8137807
rs745497802
790 K>R No ClinGen
ExAC
gnomAD
rs1433321532
CA396518955
791 R>K No ClinGen
gnomAD
rs1271618789
CA396518959
791 R>S No ClinGen
gnomAD
CA396518962
rs1359454696
792 I>F No ClinGen
gnomAD
CA8137808
rs562949092
792 I>S No ClinGen
1000Genomes
ExAC
gnomAD
rs138762665
CA8137809
793 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396518982
rs1360898968
796 Q>* No ClinGen
gnomAD
CA396518989
rs1597194987
797 F>V No ClinGen
Ensembl
CA396519002
rs1339911152
799 T>S No ClinGen
TOPMed
gnomAD
rs867930821
CA283396127
800 G>S No ClinGen
Ensembl
CA396519024
rs1447407789
802 C>Y No ClinGen
gnomAD
CA8137813
rs747018644
803 R>C No ClinGen
ExAC
gnomAD
rs770910169
CA8137814
803 R>H No ClinGen
ExAC
gnomAD
rs1475229008
CA396519038
805 P>S No ClinGen
TOPMed
gnomAD
CA8137816
rs759653665
806 V>F No ClinGen
ExAC
gnomAD
CA8137817
COSM1270550
rs759653665
806 V>I oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA283396181
rs779760708
807 G>E No ClinGen
gnomAD
CA8137819
rs763322178
807 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs763322178
CA396519047
807 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs764519328
CA8137820
808 G>E No ClinGen
ExAC
gnomAD
CA8137821
rs764519328
808 G>V No ClinGen
ExAC
gnomAD
rs1344906971
CA396519065
810 A>D No ClinGen
TOPMed
gnomAD
CA396519064
rs1316720678
810 A>S No ClinGen
TOPMed
gnomAD
CA8137824
rs749992969
811 E>D No ClinGen
ExAC
COSM972953
CA8137823
rs766917559
811 E>K endometrium breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1013406445
CA283396194
812 L>I No ClinGen
TOPMed
gnomAD
CA396519082
rs1351344340
813 I>T No ClinGen
gnomAD
CA8137825
rs150082808
813 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396519085
rs1281894801
814 G>S No ClinGen
gnomAD
CA283396385
rs376710523
819 Q>H No ClinGen
ESP
TOPMed
CA396519151
rs1396438876
821 F>Y No ClinGen
TOPMed
CA8137853
rs749493460
824 D>E No ClinGen
ExAC
gnomAD
CA8137852
rs780169440
824 D>N No ClinGen
ExAC
gnomAD
rs1343347600
CA396519179
825 K>R No ClinGen
gnomAD
rs1597195842
CA396519185
826 V>F No ClinGen
Ensembl
rs148043506
CA8137854
828 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396519210
rs1597195867
830 T>P No ClinGen
Ensembl
rs774661579
CA8137855
831 W>S No ClinGen
ExAC
gnomAD
rs773770913
CA8137858
834 R>K No ClinGen
ExAC
gnomAD
CA8137884
rs763930833
840 N>S No ClinGen
ExAC
gnomAD
rs751355850
CA8137885
841 R>C No ClinGen
ExAC
gnomAD
CA396519300
rs1380761859
841 R>H No ClinGen
TOPMed
gnomAD
CA396519310
rs1403287375
843 D>Y No ClinGen
TOPMed
CA396519329
rs1445954315
846 P>A No ClinGen
gnomAD
CA396519343
rs1383706620
848 K>E No ClinGen
gnomAD
CA8137887
rs574704181
849 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1313618431
CA396519356
849 S>R No ClinGen
gnomAD
rs755052182
CA8137889
851 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1262877955
CA396519374
852 Q>* No ClinGen
gnomAD
rs1473692136
CA396519394
855 E>K No ClinGen
TOPMed
rs542326585
CA8137894
861 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA396519433
rs1253409685
861 I>V No ClinGen
gnomAD
rs1451359639
CA396519446
863 E>K No ClinGen
gnomAD
rs769333666
CA396519461
865 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs769333666
CA8137898
865 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1392536891
CA396519486
868 G>E No ClinGen
gnomAD
CA8137900
rs762638597
869 Q>R No ClinGen
ExAC
gnomAD

No associated diseases with O00308

5 regional properties for O00308

Type Name Position InterPro Accession
domain C2 domain 1 - 117 IPR000008
domain HECT domain 516 - 870 IPR000569
domain WW domain 300 - 363 IPR001202-1
domain WW domain 405 - 437 IPR001202-2
domain WW domain 444 - 477 IPR001202-3

Functions

Description
EC Number 2.3.2.26 Aminoacyltransferases
Subcellular Localization
  • Nucleus
PANTHER Family PTHR11254 HECT DOMAIN UBIQUITIN-PROTEIN LIGASE
PANTHER Subfamily PTHR11254:SF396 NEDD4-LIKE E3 UBIQUITIN-PROTEIN LIGASE WWP2
PANTHER Protein Class ubiquitin-protein ligase
PANTHER Pathway Category Ubiquitin proteasome pathway
E3

6 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
ubiquitin ligase complex A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex.

4 GO annotations of molecular function

Name Definition
RNA polymerase II-specific DNA-binding transcription factor binding Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
transcription factor binding Binding to a transcription factor, a protein required to initiate or regulate transcription.
ubiquitin protein ligase activity Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
ubiquitin-protein transferase activity Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages.

19 GO annotations of biological process

Name Definition
extracellular transport The transport of substances that occurs outside cells.
negative regulation of DNA-binding transcription factor activity Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of Notch signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the Notch signaling pathway.
negative regulation of protein transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transcription, DNA-templated Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of transporter activity Any process that stops or reduces the activity of a transporter.
positive regulation of protein catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
proteasome-mediated ubiquitin-dependent protein catabolic process The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
protein autoubiquitination The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink.
protein K63-linked ubiquitination A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is added to a protein. K63-linked ubiquitination does not target the substrate protein for degradation, but is involved in several pathways, notably as a signal to promote error-free DNA postreplication repair.
protein polyubiquitination Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.
regulation of ion transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.
regulation of membrane potential Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.
regulation of potassium ion transmembrane transporter activity Any process that modulates the frequency, rate or extent of potassium ion transmembrane transporter activity.
viral entry into host cell The process that occurs after viral attachment by which a virus, or viral nucleic acid, breaches the plasma membrane or cell envelope and enters the host cell. The process ends when the viral nucleic acid is released into the host cell cytoplasm.

23 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P39940 RSP5 E3 ubiquitin-protein ligase RSP5 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q9V853 Smurf E3 ubiquitin-protein ligase Smurf1 Drosophila melanogaster (Fruit fly) SS
Q9Y0H4 Su(dx) E3 ubiquitin-protein ligase Su Drosophila melanogaster (Fruit fly) SS
O95817 BAG3 BAG family molecular chaperone regulator 3 Homo sapiens (Human) PR
O60861 GAS7 Growth arrest-specific protein 7 Homo sapiens (Human) PR
Q9HCE7 SMURF1 E3 ubiquitin-protein ligase SMURF1 Homo sapiens (Human) PR
Q9HAU4 SMURF2 E3 ubiquitin-protein ligase SMURF2 Homo sapiens (Human) EV
Q9H0M0 WWP1 NEDD4-like E3 ubiquitin-protein ligase WWP1 Homo sapiens (Human) EV
Q96J02 ITCH E3 ubiquitin-protein ligase Itchy homolog Homo sapiens (Human) EV
Q96PU5 NEDD4L E3 ubiquitin-protein ligase NEDD4-like Homo sapiens (Human) PR
P46934 NEDD4 E3 ubiquitin-protein ligase NEDD4 Homo sapiens (Human) EV
Q8IYU2 HACE1 E3 ubiquitin-protein ligase HACE1 Homo sapiens (Human) EV
P46935 Nedd4 E3 ubiquitin-protein ligase NEDD4 Mus musculus (Mouse) PR
Q9CUN6 Smurf1 E3 ubiquitin-protein ligase SMURF1 Mus musculus (Mouse) PR
A2A5Z6 Smurf2 E3 ubiquitin-protein ligase SMURF2 Mus musculus (Mouse) SS
Q8BZZ3 Wwp1 NEDD4-like E3 ubiquitin-protein ligase WWP1 Mus musculus (Mouse) SS
Q60780 Gas7 Growth arrest-specific protein 7 Mus musculus (Mouse) PR
Q8C863 Itch E3 ubiquitin-protein ligase Itchy Mus musculus (Mouse) EV
Q8CFI0 Nedd4l E3 ubiquitin-protein ligase NEDD4-like Mus musculus (Mouse) PR
Q9DBH0 Wwp2 NEDD4-like E3 ubiquitin-protein ligase WWP2 Mus musculus (Mouse) SS
Q62940 Nedd4 E3 ubiquitin-protein ligase NEDD4 Rattus norvegicus (Rat) PR
Q9N2Z7 wwp-1 E3 ubiquitin-protein ligase wwp-1 Caenorhabditis elegans SS
A9JRZ0 smurf2 E3 ubiquitin-protein ligase SMURF2 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MASASSSRAG VALPFEKSQL TLKVVSAKPK VHNRQPRINS YVEVAVDGLP SETKKTGKRI
70 80 90 100 110 120
GSSELLWNEI IILNVTAQSH LDLKVWSCHT LRNELLGTAS VNLSNVLKNN GGKMENMQLT
130 140 150 160 170 180
LNLQTENKGS VVSGGELTIF LDGPTVDLGN VPNGSALTDG SQLPSRDSSG TAVAPENRHQ
190 200 210 220 230 240
PPSTNCFGGR SRTHRHSGAS ARTTPATGEQ SPGARSRHRQ PVKNSGHSGL ANGTVNDEPT
250 260 270 280 290 300
TATDPEEPSV VGVTSPPAAP LSVTPNPNTT SLPAPATPAE GEEPSTSGTQ QLPAAAQAPD
310 320 330 340 350 360
ALPAGWEQRE LPNGRVYYVD HNTKTTTWER PLPPGWEKRT DPRGRFYYVD HNTRTTTWQR
370 380 390 400 410 420
PTAEYVRNYE QWQSQRNQLQ GAMQHFSQRF LYQSSSASTD HDPLGPLPPG WEKRQDNGRV
430 440 450 460 470 480
YYVNHNTRTT QWEDPRTQGM IQEPALPPGW EMKYTSEGVR YFVDHNTRTT TFKDPRPGFE
490 500 510 520 530 540
SGTKQGSPGA YDRSFRWKYH QFRFLCHSNA LPSHVKISVS RQTLFEDSFQ QIMNMKPYDL
550 560 570 580 590 600
RRRLYIIMRG EEGLDYGGIA REWFFLLSHE VLNPMYCLFE YAGKNNYCLQ INPASSINPD
610 620 630 640 650 660
HLTYFRFIGR FIAMALYHGK FIDTGFTLPF YKRMLNKRPT LKDLESIDPE FYNSIVWIKE
670 680 690 700 710 720
NNLEECGLEL YFIQDMEILG KVTTHELKEG GESIRVTEEN KEEYIMLLTD WRFTRGVEEQ
730 740 750 760 770 780
TKAFLDGFNE VAPLEWLRYF DEKELELMLC GMQEIDMSDW QKSTIYRHYT KNSKQIQWFW
790 800 810 820 830 840
QVVKEMDNEK RIRLLQFVTG TCRLPVGGFA ELIGSNGPQK FCIDKVGKET WLPRSHTCFN
850 860
RLDLPPYKSY EQLREKLLYA IEETEGFGQE