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

2 structures for O75113

Entry ID Method Resolution Chain Position Source
6Q3V X-ray 188 A A 8-193 PDB
AF-O75113-F1 Predicted AlphaFoldDB

617 variants for O75113

Variant ID(s) Position Change Description Diseaes Association Provenance
rs369325022
CA280843166
3 A>S No ClinGen
Ensembl
CA280843162
rs1022341121
5 A>E No ClinGen
TOPMed
CA396104364
rs1405002788
6 V>L No ClinGen
TOPMed
rs748471422
CA8045683
9 E>* No ClinGen
ExAC
gnomAD
CA396104338
rs1345563321
10 F>I No ClinGen
TOPMed
CA396104330
rs1458658457
11 T>S No ClinGen
TOPMed
rs1185835044
CA396104319
12 A>V No ClinGen
gnomAD
rs1447981935
CA396104311
14 A>P No ClinGen
TOPMed
gnomAD
rs1447981935
CA396104312
14 A>S No ClinGen
TOPMed
gnomAD
CA396104307
rs1452683603
14 A>V No ClinGen
TOPMed
CA8045681
rs548468094
17 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396104284
rs1265334921
18 E>Q No ClinGen
gnomAD
rs1292350035
CA396104255
22 Q>R No ClinGen
gnomAD
CA8045680
rs749479818
24 R>C No ClinGen
ExAC
gnomAD
CA396104243
rs749479818
24 R>G No ClinGen
ExAC
gnomAD
rs1227356455
CA396104239
24 R>L No ClinGen
TOPMed
rs1269287068
CA396104230
26 R>C No ClinGen
TOPMed
gnomAD
CA396104231
rs1269287068
26 R>G No ClinGen
TOPMed
gnomAD
CA396104228
rs1354568291
26 R>H No ClinGen
gnomAD
CA396104220
rs1327720608
27 I>M No ClinGen
gnomAD
CA396104218
rs1288241591
28 E>Q No ClinGen
gnomAD
rs1207235370
CA396104214
28 E>V No ClinGen
TOPMed
CA396104208
rs1321044545
29 G>D No ClinGen
gnomAD
rs1226891057
CA396104192
32 G>S No ClinGen
gnomAD
CA396104184
rs1366749057
33 V>L No ClinGen
gnomAD
rs1567450989
CA396104162
36 A>V No ClinGen
Ensembl
CA280843153
rs1010002326
CA396104160
37 V>L No ClinGen
TOPMed
gnomAD
CA396104161
rs1010002326
37 V>M No ClinGen
TOPMed
gnomAD
rs750528237
CA8045677
38 L>F No ClinGen
ExAC
gnomAD
CA396104154
rs1177989820
38 L>H No ClinGen
TOPMed
rs956664144
CA280843150
39 G>V No ClinGen
TOPMed
CA396104144
rs1387758941
40 A>S No ClinGen
TOPMed
rs1029948929
CA280843148
40 A>V No ClinGen
TOPMed
gnomAD
rs1597119013
CA396104140
41 L>P No ClinGen
Ensembl
rs781336115
CA8045676
41 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA396104134
rs1446728552
42 G>E No ClinGen
TOPMed
rs1198281268
CA396104131
43 A>T No ClinGen
TOPMed
gnomAD
rs1490518679
CA396104107
46 P>A No ClinGen
TOPMed
gnomAD
rs1269532187
CA396104105
46 P>R No ClinGen
gnomAD
rs1490518679
CA396104109
46 P>S No ClinGen
TOPMed
gnomAD
rs1481976804
CA396104089
49 A>E No ClinGen
TOPMed
gnomAD
CA396104087
rs1481976804
49 A>V No ClinGen
TOPMed
gnomAD
rs1214898161
CA396104085
50 R>G No ClinGen
gnomAD
CA396104083
rs1341064117
50 R>H No ClinGen
gnomAD
CA396104078
rs1272657664
51 I>F No ClinGen
gnomAD
CA8045673
rs763900128
54 Q>* No ClinGen
ExAC
gnomAD
CA8045672
rs762632574
55 L>P No ClinGen
ExAC
TOPMed
CA396104031
rs1410916859
58 A>S No ClinGen
TOPMed
rs1354360886
CA396104028
58 A>V No ClinGen
gnomAD
CA396104023
rs1005678486
59 Q>L No ClinGen
TOPMed
gnomAD
rs1005678486
CA280843140
59 Q>R No ClinGen
TOPMed
gnomAD
rs1411956500
CA396104016
60 E>G No ClinGen
gnomAD
CA396104009
rs1423344551
61 A>E No ClinGen
gnomAD
CA396104007
rs1423344551
61 A>V No ClinGen
gnomAD
rs888210564
CA280843137
62 V>A No ClinGen
TOPMed
gnomAD
rs1422991574
CA396103999
63 H>Y No ClinGen
TOPMed
rs757164355
CA8045658
69 I>V No ClinGen
ExAC
gnomAD
rs1295484146
CA395834280
72 I>T No ClinGen
TOPMed
CA8045657
rs747015832
79 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs370038322
CA8045656
82 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758278743
CA8045655
85 K>R No ClinGen
ExAC
gnomAD
CA8045654
rs752473927
88 H>R No ClinGen
ExAC
gnomAD
CA8045653
rs377202105
89 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395834156
rs1288937772
89 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 91 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395834136
rs1206284734
92 V>I No ClinGen
gnomAD
CA8045650
rs201703173
96 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1210587763
CA395834089
99 L>Q No ClinGen
TOPMed
rs367661981
CA8045648
99 L>V No ClinGen
ESP
ExAC
gnomAD
CA395834055
rs1453786054
104 Q>E No ClinGen
gnomAD
CA280301284
rs903888380
104 Q>R No ClinGen
TOPMed
CA395834047
rs1385271601
105 D>N No ClinGen
gnomAD
CA8045646
rs538474015
105 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA395834048
rs1385271601
105 D>Y No ClinGen
gnomAD
CA395834010
rs1453220663
110 L>P No ClinGen
gnomAD
CA395834004
rs1316503743
111 C>S No ClinGen
gnomAD
TCGA novel 112 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395833977
rs1159795267
115 I>T No ClinGen
gnomAD
rs1054757941
CA280301272
115 I>V No ClinGen
Ensembl
rs746036741
CA8045643
117 L>R No ClinGen
ExAC
gnomAD
rs1162727867
CA395833927
123 S>N No ClinGen
TOPMed
gnomAD
CA395833918
rs1389917878
124 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8045642
rs776693840
127 V>A No ClinGen
ExAC
gnomAD
TCGA novel 127 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1043807937
CA280301255
129 M>T No ClinGen
TOPMed
rs1453406876
CA395833884
130 A>T No ClinGen
TOPMed
rs747054853
CA8045640
131 R>K No ClinGen
ExAC
gnomAD
CA395833865
rs1597096918
132 S>R No ClinGen
Ensembl
CA395833833
rs1244409975
137 F>L No ClinGen
TOPMed
CA8045638
rs758270673
139 K>N No ClinGen
ExAC
gnomAD
CA280301215
rs935938316
144 K>E No ClinGen
Ensembl
CA8045637
rs747939394
145 E>G No ClinGen
ExAC
gnomAD
rs1247192852
CA395833751
148 P>R No ClinGen
gnomAD
rs1295761497
CA395833748
149 S>G No ClinGen
gnomAD
CA8045635
rs373573772
149 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8045634
rs367970276
150 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8045633
rs765920247
151 Q>E No ClinGen
ExAC
gnomAD
rs755720455
CA8045632
154 S>A No ClinGen
ExAC
gnomAD
rs1425124427
CA395833694
156 V>A No ClinGen
gnomAD
TCGA novel 160 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776029428
CA8045628
161 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs776029428
CA395833659
161 K>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 163 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1187770774
CA395833638
164 V>I No ClinGen
gnomAD
rs759947250
CA8045626
168 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA8045624
rs771044794
170 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA395833577
rs1473744113
173 M>V No ClinGen
TOPMed
TCGA novel 174 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1411824911
CA395833511
182 L>W No ClinGen
TOPMed
CA8045621
rs772025469
185 E>* No ClinGen
ExAC
gnomAD
TCGA novel 185 E>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778802065
CA395833478
187 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs749035787
CA8045617
191 Q>H No ClinGen
ExAC
gnomAD
rs768484205
CA8045618
191 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs755665625
CA8045615
194 E>D No ClinGen
ExAC
gnomAD
CA8045614
rs780810678
195 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs780810678
CA8045613
195 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs563300953
CA8045611
196 L>R No ClinGen
1000Genomes
ExAC
gnomAD
CA280301003
rs571191958
200 G>R No ClinGen
Ensembl
rs753294489
CA8045610
201 D>N No ClinGen
ExAC
gnomAD
rs1479209435
CA395833379
202 D>Y No ClinGen
gnomAD
rs370683551
CA8045609
203 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8045608
rs760035444
204 V>F No ClinGen
ExAC
gnomAD
CA395833362
rs1248982574
204 V>G No ClinGen
gnomAD
rs974696338
CA280300986
205 I>T No ClinGen
Ensembl
TCGA novel 205 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754090712
CA8045607
206 E>D No ClinGen
ExAC
gnomAD
CA395833343
rs1481129566
207 M>R No ClinGen
gnomAD
CA395833339
rs1567432054
208 R>G No ClinGen
Ensembl
rs766624682
CA8045606
210 S>F No ClinGen
ExAC
gnomAD
CA395833311
rs1322964128
212 Q>K No ClinGen
gnomAD
CA8045604
rs773360459
212 Q>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 213 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395833288
rs1347329574
215 F>V No ClinGen
gnomAD
CA8045602
rs761853391
217 Q>H No ClinGen
ExAC
gnomAD
CA8045603
rs751964629
217 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1189359354
CA395833264
218 N>K No ClinGen
gnomAD
rs774343431
CA8045601
219 A>P No ClinGen
ExAC
gnomAD
rs79987532
CA8045600
220 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA395833253
rs79987532
220 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1176562911
CA395833231
224 N>S No ClinGen
gnomAD
CA8045597
rs762654267
226 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA280300920
rs909568023
227 R>G No ClinGen
TOPMed
gnomAD
CA8045596
rs769519588
228 D>G No ClinGen
ExAC
gnomAD
CA395833198
rs1420121355
229 E>G No ClinGen
gnomAD
rs982534478
CA280300914
231 V>I No ClinGen
TOPMed
TCGA novel 233 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1251619387
CA395833171
233 Q>L No ClinGen
TOPMed
rs1251619387
CA395833172
233 Q>R No ClinGen
TOPMed
rs1434249655
CA395833164
234 E>A No ClinGen
TOPMed
TCGA novel 235 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs982953063
CA280300912
236 A>S No ClinGen
Ensembl
rs564038072
CA8045595
236 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8045594
rs780959827
237 R>G No ClinGen
ExAC
gnomAD
CA8045592
rs751101001
238 N>K No ClinGen
ExAC
gnomAD
CA8045593
rs756892350
238 N>S No ClinGen
ExAC
gnomAD
rs779575185
CA8045591
240 A>G No ClinGen
ExAC
gnomAD
CA8045590
rs374516858
241 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1450135720
CA395833107
243 P>L No ClinGen
gnomAD
rs1308907621
CA395833110
243 P>S No ClinGen
TOPMed
gnomAD
CA395833091
rs1305942053
246 E>A No ClinGen
TOPMed
rs1454168940
CA395833078
248 T>A No ClinGen
TOPMed
gnomAD
rs1382130699
CA395833041
253 T>S No ClinGen
gnomAD
rs767725629
CA8045585
254 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs375706424
CA8045584
255 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375706424
CA280300812
255 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774357735
CA8045583
257 S>G No ClinGen
ExAC
gnomAD
CA8045582
rs768585096
258 S>L No ClinGen
ExAC
gnomAD
CA8045581
rs762761520
260 D>G No ClinGen
ExAC
gnomAD
rs775378344
CA8045580
261 V>A No ClinGen
ExAC
gnomAD
CA395832995
rs1411492247
261 V>M No ClinGen
Ensembl
rs1329298741
CA395832986
262 L>P No ClinGen
TOPMed
rs769515870
CA8045579
263 F>L No ClinGen
ExAC
gnomAD
rs772844228
CA280300770
265 P>A No ClinGen
Ensembl
rs1231843229
CA395832961
266 I>T No ClinGen
TOPMed
rs1219131740
COSM1159104
CA395832963
266 I>V pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1000641101
CA280300769
267 N>H No ClinGen
gnomAD
CA395832941
rs1351349481
269 L>P No ClinGen
TOPMed
gnomAD
CA8045577
rs776483975
270 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs992290489
CA280300735
270 T>N No ClinGen
TOPMed
gnomAD
rs992290489
CA395832937
270 T>S No ClinGen
TOPMed
gnomAD
CA8045576
rs372532426
271 P>S No ClinGen
ESP
ExAC
gnomAD
rs200690525
CA280300718
272 D>A No ClinGen
gnomAD
rs1042052777
CA280300703
272 D>E No ClinGen
Ensembl
rs200690525
CA395832927
272 D>G No ClinGen
gnomAD
rs1246491639
CA395832918
273 E>D No ClinGen
gnomAD
CA8045574
rs777374134
274 E>G No ClinGen
ExAC
gnomAD
COSM86414
CA8045575
rs746518116
274 E>Q ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1382236629
CA395832908
275 A>S No ClinGen
gnomAD
rs1273467538
CA395832902
276 L>F No ClinGen
TOPMed
CA395832894
rs1387799712
277 S>C No ClinGen
gnomAD
rs1488975945
CA395832897
277 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1301825012
CA395832889
278 N>S No ClinGen
gnomAD
rs201620094
CA8045573
280 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749805282
CA8045572
281 I>T No ClinGen
ExAC
gnomAD
CA8045571
rs200436019
282 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA280300663
rs890311199
287 F>Y No ClinGen
Ensembl
rs1474562681
CA395832817
288 S>C No ClinGen
gnomAD
rs868189349
CA280300650
288 S>P No ClinGen
Ensembl
CA8045569
rs756504966
292 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1193997528
CA395832777
294 H>Y No ClinGen
gnomAD
CA8045568
rs750778005
295 T>A No ClinGen
ExAC
gnomAD
rs767743824
CA8045567
295 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA395832745
rs1392167361
298 Q>H No ClinGen
TOPMed
rs1356032414
CA395832747
298 Q>R No ClinGen
gnomAD
TCGA novel 299 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045565
rs751670285
300 S>P No ClinGen
ExAC
gnomAD
rs764033856
CA8045564
304 V>A No ClinGen
ExAC
gnomAD
CA395832701
rs1428061183
305 Q>E No ClinGen
TOPMed
rs376445814
CA8045562
305 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395832690
rs759263199
306 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8045561
rs765206119
COSM1216561
306 E>G large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs776502147
CA8045559
307 G>E No ClinGen
ExAC
gnomAD
rs374281631
CA280300560
307 G>W No ClinGen
Ensembl
CA8045558
rs770735248
308 E>* No ClinGen
ExAC
gnomAD
CA8045557
rs746607752
308 E>V No ClinGen
ExAC
gnomAD
rs1350699815
CA395832670
310 L>V No ClinGen
TOPMed
rs373702319
CA8045555
312 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377300415
CA8045553
313 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747693106
CA8045554
313 A>T No ClinGen
ExAC
gnomAD
CA280300481
rs764718933
314 K>E No ClinGen
TOPMed
rs1427249328
CA395832633
315 T>I No ClinGen
gnomAD
TCGA novel 315 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781498181
CA8045550
317 A>S No ClinGen
ExAC
gnomAD
rs764371179
CA8045547
319 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA8045545
rs752763847
319 N>K No ClinGen
ExAC
CA8045546
rs758464499
319 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA8045544
rs759503293
321 I>K No ClinGen
ExAC
gnomAD
CA8045543
rs759503293
321 I>T No ClinGen
ExAC
gnomAD
CA280300427
rs200492810
321 I>V No ClinGen
gnomAD
rs1294341873
CA395832579
325 S>P No ClinGen
TOPMed
CA395832565
rs1567431738
327 S>P No ClinGen
Ensembl
TCGA novel 327 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045541
rs766323593
328 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA8045542
rs776586669
328 S>P No ClinGen
ExAC
gnomAD
CA8045540
rs760513551
329 A>S No ClinGen
ExAC
gnomAD
CA395832538
rs1335540247
331 S>F No ClinGen
gnomAD
TCGA novel 332 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045539
rs772809774
334 L>S No ClinGen
ExAC
gnomAD
rs771746235
CA8045538
335 S>N No ClinGen
ExAC
gnomAD
CA280300342
rs983009151
336 P>S No ClinGen
Ensembl
rs1175832288
CA395832498
337 D>V No ClinGen
TOPMed
gnomAD
rs1470313633
CA395832493
338 I>V No ClinGen
gnomAD
rs1429978559
CA395832468
341 T>S No ClinGen
gnomAD
CA8045536
rs746933170
342 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA8045535
rs770235366
342 T>I No ClinGen
ExAC
gnomAD
rs746326634
CA8045534
345 M>L No ClinGen
ExAC
gnomAD
CA395832416
rs375906701
348 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395832401
rs1202496952
351 V>I No ClinGen
gnomAD
CA280300317
rs1039609903
353 F>V No ClinGen
TOPMed
rs1323605305
CA395832355
357 M>T No ClinGen
gnomAD
CA280300309
rs775473114
357 M>V No ClinGen
Ensembl
rs777869490
CA8045530
361 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1350464100
CA395832312
363 I>S No ClinGen
gnomAD
CA8045529
rs758578191
364 V>A No ClinGen
ExAC
CA395832299
rs1280524473
365 E>G No ClinGen
TOPMed
gnomAD
rs752751073
CA8045528
366 K>E No ClinGen
ExAC
CA8045527
rs778997251
367 V>G No ClinGen
ExAC
gnomAD
rs1166625416
CA395832288
367 V>I No ClinGen
TOPMed
CA395832283
rs1308132098
368 I>L No ClinGen
TOPMed
gnomAD
rs753863624
CA8045525
370 V>L No ClinGen
ExAC
gnomAD
rs917419128
CA280300244
371 Y>C No ClinGen
TOPMed
gnomAD
CA8045524
rs766411853
372 G>R No ClinGen
ExAC
rs760607771
CA8045523
373 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8045521
rs201253448
375 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395832236
rs1407110638
375 T>I No ClinGen
TOPMed
gnomAD
CA395832237
COSM1258639
rs1407110638
375 T>S oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
TCGA novel 376 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1047178684
CA395832216
378 L>F No ClinGen
TOPMed
gnomAD
rs1240948982
CA395832213
379 L>V No ClinGen
gnomAD
rs773756441
CA8045519
382 E>Q No ClinGen
ExAC
gnomAD
rs768206096
CA8045518
383 E>D No ClinGen
ExAC
gnomAD
rs762420428
CA8045517
384 I>T No ClinGen
ExAC
gnomAD
rs929689401
CA280300189
387 E>G No ClinGen
TOPMed
TCGA novel 387 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777178441
CA8045516
391 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs1212970828
CA395832128
391 F>L No ClinGen
gnomAD
rs777178441
CA395832125
391 F>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 391 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045515
rs771369230
392 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8045514
rs747378708
395 R>G No ClinGen
ExAC
gnomAD
CA395832088
COSM971066
rs1229411447
396 E>G Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1357739463
CA395832061
400 G>D No ClinGen
gnomAD
CA8045511
rs748447995
402 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs573971402
CA8045512
402 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs573971402
CA395832052
402 V>M No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 404 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045509
rs755173536
406 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs755173536
CA395832025
406 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs375248922
CA8045508
407 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1484353784
CA395832017
407 N>S No ClinGen
TOPMed
CA395831981
rs1162588466
412 K>T No ClinGen
gnomAD
CA8045506
rs756053080
413 G>D No ClinGen
ExAC
gnomAD
rs1474728066
CA395831971
414 V>I No ClinGen
TOPMed
CA8045504
rs761492532
415 Y>D No ClinGen
ExAC
gnomAD
rs761492532
CA8045503
415 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA280300078
rs372052207
416 S>R No ClinGen
ESP
TOPMed
CA8045502
rs751267480
417 S>R No ClinGen
ExAC
gnomAD
rs1455621420
CA395831940
418 T>I No ClinGen
TOPMed
rs368364716
CA8045501
419 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8045500
rs762461289
421 L>F No ClinGen
ExAC
gnomAD
CA395831902
rs1449590931
424 D>V No ClinGen
TOPMed
CA8045497
rs761195723
425 S>T No ClinGen
ExAC
gnomAD
CA8045496
rs773566179
426 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs967793901
CA280300001
427 P>L No ClinGen
TOPMed
gnomAD
CA395831878
rs1278811199
428 K>N No ClinGen
gnomAD
rs772522903
CA8045495
430 T>R No ClinGen
ExAC
gnomAD
rs748454863
CA8045494
434 T>A No ClinGen
ExAC
gnomAD
rs748454863
CA395831841
434 T>P No ClinGen
ExAC
gnomAD
CA395831827
rs1458160210
436 Q>E No ClinGen
gnomAD
CA395831806
CA280299955
rs1020163265
438 M>I No ClinGen
TOPMed
gnomAD
rs1421106117
CA395831808
438 M>T No ClinGen
TOPMed
gnomAD
CA280299960
rs926810213
438 M>V No ClinGen
TOPMed
gnomAD
rs768944213
CA8045492
441 K>E No ClinGen
ExAC
gnomAD
CA8045491
CA8045490
rs556981007
441 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA395831781
rs1423700152
COSM257482
442 F>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1195155665
CA395831771
444 Q>* No ClinGen
gnomAD
rs777170154 444 Q>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1008838605
CA280299945
446 P>S No ClinGen
gnomAD
rs745593084
CA280299941
448 K>E No ClinGen
Ensembl
CA395831717
rs1208134722
452 K>E No ClinGen
TOPMed
CA8045487
rs780962229
453 P>A No ClinGen
ExAC
gnomAD
CA8045486
rs780962229
453 P>S No ClinGen
ExAC
gnomAD
rs1249899396
CA395831704
454 C>R No ClinGen
gnomAD
CA8045485
rs778155469
454 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA395831702
rs1204056031
454 C>Y No ClinGen
gnomAD
CA395831693
rs1483757884
455 T>I No ClinGen
gnomAD
CA395831682
rs1221716973
457 N>S No ClinGen
gnomAD
rs1343566891
CA395831668
459 R>K No ClinGen
TOPMed
gnomAD
rs751253626
CA8045484
460 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA8045483
rs763739892
462 T>I No ClinGen
ExAC
gnomAD
rs1029743046
CA280299889
462 T>S No ClinGen
TOPMed
CA395831639
rs1157860798
463 F>L No ClinGen
TOPMed
COSM1189270
rs1425803921
CA395831633
464 R>I lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA8045481
rs758005215
464 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA8045480
rs752226610
468 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA395831601
rs1374447316
469 E>D No ClinGen
TOPMed
CA395831578
rs1461196581
472 H>L No ClinGen
gnomAD
rs1400527296
CA395831565
474 V>I No ClinGen
gnomAD
rs996034486
CA280299837
475 W>C No ClinGen
Ensembl
rs758933861
CA8045478
475 W>G No ClinGen
ExAC
gnomAD
rs1429277977
CA395831553
476 G>R No ClinGen
TOPMed
gnomAD
CA395831554
rs1429277977
476 G>S No ClinGen
TOPMed
gnomAD
rs773832503
CA8045477
477 S>T No ClinGen
ExAC
gnomAD
CA8045476
rs767895000
480 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs762254198
CA8045475
481 Y>F No ClinGen
ExAC
rs1248832948
CA395831519
481 Y>N No ClinGen
gnomAD
rs371090316
CA8045474
482 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8045472
rs371090316
482 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 486 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045469
rs749476691
486 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 488 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs537036559
CA8045468
490 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA280299749
rs898912510
494 P>S No ClinGen
Ensembl
CA8045467
rs769957961
495 S>F No ClinGen
ExAC
gnomAD
rs1322897125
CA395831416
497 A>T No ClinGen
gnomAD
CA395831413
rs1207644403
497 A>V No ClinGen
TOPMed
CA8045466
rs745933167
500 S>N No ClinGen
ExAC
TOPMed
CA395831383
rs1255384532
502 K>R No ClinGen
gnomAD
TCGA novel 503 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395831379
rs1233857378
503 E>K No ClinGen
gnomAD
TCGA novel 505 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395831361
rs1304645492
505 N>S No ClinGen
gnomAD
CA8045464
rs757074482
512 S>L No ClinGen
ExAC
gnomAD
CA395831306
rs1310071052
513 S>R No ClinGen
gnomAD
rs1449921616
CA395831293
515 Q>R No ClinGen
gnomAD
rs1037889854
CA280299687
516 P>L No ClinGen
TOPMed
CA280299698
rs1005434447
516 P>S No ClinGen
TOPMed
gnomAD
rs571576035
CA280299657
519 P>L No ClinGen
1000Genomes
TOPMed
rs758166796
CA8045461
519 P>T No ClinGen
ExAC
gnomAD
rs1362525441
CA395831267
520 L>V No ClinGen
gnomAD
CA280299656
rs940335018
523 E>* No ClinGen
Ensembl
TCGA novel 523 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1158835111
CA395831238
524 N>S No ClinGen
gnomAD
rs778531981
CA8045459
526 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1382457041
CA395831214
527 H>Q No ClinGen
gnomAD
CA8045458
rs201358817
528 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
rs753227329
CA8045457
528 Q>R No ClinGen
ExAC
gnomAD
rs768074629
CA8045456
532 P>S No ClinGen
ExAC
gnomAD
rs1368335869
CA395831175
533 L>F No ClinGen
TOPMed
rs201705111
CA8045455
535 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764606022
CA8045453
536 N>S No ClinGen
ExAC
gnomAD
TCGA novel 538 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395831147
rs200098399
538 M>L No ClinGen
1000Genomes
ExAC
TOPMed
rs775924891
CA8045451
538 M>T No ClinGen
ExAC
gnomAD
CA8045452
rs200098399
538 M>V No ClinGen
1000Genomes
ExAC
TOPMed
TCGA novel 539 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045450
rs549178712
540 S>C No ClinGen
1000Genomes
ExAC
gnomAD
CA395831127
rs868677269
541 A>P No ClinGen
gnomAD
CA280299604
rs868677269
541 A>S No ClinGen
gnomAD
rs759663443
CA8045449
544 K>R No ClinGen
ExAC
rs368563685
CA8045448
545 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8045446
rs374454235
545 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8045447
rs374454235
545 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1295617124
CA395831081
548 C>G No ClinGen
TOPMed
rs184021900
CA8045443
549 C>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1056792613
CA280299578
549 C>R No ClinGen
TOPMed
gnomAD
rs184021900
CA395831073
549 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8045441
rs532795660
551 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8045442
rs532795660
551 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781303949
CA8045440
552 P>S No ClinGen
ExAC
TOPMed
CA280299556
rs373692452
553 H>N No ClinGen
ESP
TOPMed
gnomAD
rs377648598
CA8045439
553 H>R No ClinGen
ESP
ExAC
CA8045437
rs374064585
554 S>C No ClinGen
ESP
ExAC
rs1362825817
CA395831046
554 S>P No ClinGen
gnomAD
CA8045436
rs752155881
557 N>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8045435
rs764697607
558 C>R No ClinGen
ExAC
gnomAD
CA395831013
rs1369208407
559 S>P No ClinGen
gnomAD
rs200650848
CA8045434
560 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753055285
CA8045433
562 S>F No ClinGen
ExAC
gnomAD
rs1215770873
CA395830981
564 P>L No ClinGen
gnomAD
rs765525051
CA8045432
564 P>S No ClinGen
ExAC
gnomAD
rs776887410
COSM971058
CA8045430
565 M>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1219926018
CA395830967
566 P>L No ClinGen
gnomAD
rs1219926018
CA395830968
566 P>R No ClinGen
gnomAD
TCGA novel 566 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045429
rs368975224
567 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1246418033
CA395830957
568 P>L No ClinGen
gnomAD
CA395830949
rs1324164950
569 Q>H No ClinGen
gnomAD
rs1403957712
CA395830953
569 Q>P No ClinGen
TOPMed
rs773190623
CA8045427
572 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA8045428
rs760739473
572 P>S No ClinGen
ExAC
gnomAD
rs540782433
CA8045425
573 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8045426
rs771937642
573 S>T No ClinGen
ExAC
gnomAD
CA395830921
rs1391799731
575 T>A No ClinGen
TOPMed
gnomAD
rs201779428
CA8045424
575 T>S No ClinGen
1000Genomes
ExAC
TOPMed
CA280299404
rs375737753
576 D>E No ClinGen
ESP
TOPMed
CA395830917
rs1460565999
576 D>N No ClinGen
gnomAD
rs1194413429
CA395830904
578 R>G No ClinGen
gnomAD
CA280299380
rs976808760
578 R>K No ClinGen
TOPMed
gnomAD
rs748943460
CA8045422
579 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA395830878
rs1290226917
582 P>L No ClinGen
gnomAD
CA8045419
rs201209953
583 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755756184
CA8045420
583 S>T No ClinGen
ExAC
gnomAD
TCGA novel 584 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395830871
rs1272427199
584 D>N No ClinGen
TOPMed
CA8045418
rs778439794
585 H>R No ClinGen
ExAC
gnomAD
CA8045417
rs375205611
586 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA280299332
rs367947146
586 I>V No ClinGen
ESP
TOPMed
gnomAD
rs1436294971
CA395830847
587 D>A No ClinGen
TOPMed
gnomAD
rs1205224472
CA395830848
587 D>H No ClinGen
TOPMed
gnomAD
rs753125536
CA8045416
588 S>C No ClinGen
ExAC
gnomAD
rs753125536
CA395830838
588 S>F No ClinGen
ExAC
gnomAD
CA8045415
rs765566430
590 V>F No ClinGen
ExAC
gnomAD
CA395830812
rs1263353731
593 V>F No ClinGen
TOPMed
gnomAD
CA280299311
rs773639525
596 F>C No ClinGen
Ensembl
rs755335517
CA8045414
COSM273563
597 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1567431070
CA395830775
598 D>E No ClinGen
Ensembl
rs754074641
CA8045413
599 T>A No ClinGen
ExAC
gnomAD
rs766610191
CA8045412
599 T>S No ClinGen
ExAC
gnomAD
CA8045411
rs760755930
601 K>N No ClinGen
ExAC
gnomAD
rs767475965
CA8045409
602 I>M No ClinGen
ExAC
gnomAD
rs773207025
CA8045410
602 I>T No ClinGen
ExAC
gnomAD
TCGA novel 602 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA280299193
rs967382812
603 P>L No ClinGen
gnomAD
CA8045407
rs774323575
604 Y>C No ClinGen
ExAC
gnomAD
CA8045408
rs542809110
604 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
rs768375626
CA8045406
605 K>Q No ClinGen
ExAC
gnomAD
CA8045405
rs374571601
609 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1567431035 610 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045404
rs370537177
614 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200353639
CA280299120
615 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200353639
CA8045403
615 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200353639
CA395830671
615 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1277003141
CA395830638
620 I>V No ClinGen
gnomAD
rs748639228
CA8045400
CA395830626
622 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs748639228
CA8045399
622 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA395830610
rs1376455025
624 G>E No ClinGen
gnomAD
CA8045397
rs755355322
629 I>V No ClinGen
ExAC
gnomAD
CA8045396
rs754172315
630 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 632 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM971054
rs776388321
CA8045381
636 F>L large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs770627131
CA8045380
COSM971054
CA280293563
636 F>L Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
NCI-TCGA
rs1336087496
CA395829395
636 F>S No ClinGen
gnomAD
COSM971052
CA395829337
rs1189665791
640 R>C Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA395829332
rs1278710284
640 R>H No ClinGen
gnomAD
TCGA novel 641 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779299806
CA8045378
642 I>F No ClinGen
ExAC
CA8045377
rs769139262
643 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA395829288
rs1432338879
644 I>V No ClinGen
TOPMed
rs1384027196
CA395829254
646 V>A No ClinGen
gnomAD
rs756450120
CA8045373
647 E>Q No ClinGen
ExAC
gnomAD
rs750684263
CA8045371
652 L>F No ClinGen
ExAC
gnomAD
CA395829182
rs1391867751
653 G>R No ClinGen
TOPMed
CA8045370
rs781388174
656 N>S No ClinGen
ExAC
gnomAD
CA8045369
rs757343448
657 I>F No ClinGen
ExAC
gnomAD
rs199510508
CA8045368
658 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA8045364
rs377500906
668 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA280293482
rs973085558
668 R>H No ClinGen
TOPMed
gnomAD
TCGA novel 670 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759397187
CA8045363
672 V>I No ClinGen
ExAC
gnomAD
CA8045347
rs752744531
676 H>Y No ClinGen
ExAC
gnomAD
CA8045346
rs765249622
679 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1463402058
CA395828981
680 Q>H No ClinGen
TOPMed
CA280291838
rs1017652860
681 L>V No ClinGen
Ensembl
CA395828969
rs1188455677
682 Q>L No ClinGen
Ensembl
rs753620752
CA8045344
684 L>V No ClinGen
ExAC
gnomAD
rs1394452448
CA395828946
686 I>V No ClinGen
TOPMed
TCGA novel 691 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045343
rs765977185
695 V>D No ClinGen
ExAC
gnomAD
rs1359894345
CA395828874
697 G>R No ClinGen
TOPMed
rs1026204652
CA280291813
700 I>V No ClinGen
TOPMed
rs760325019
CA8045342
703 H>R No ClinGen
ExAC
gnomAD
CA395828198
rs1458307727
708 L>P No ClinGen
gnomAD
rs748177634
CA8045326
708 L>V No ClinGen
ExAC
gnomAD
COSM352003
CA8045322
rs766244485
712 A>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA8045320
rs750158798
713 D>E No ClinGen
ExAC
gnomAD
rs144195793
CA8045319
716 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs144195793
CA8045318
716 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA395828138
rs1377137148
718 I>V No ClinGen
gnomAD
CA280289233
rs149338916
720 V>L No ClinGen
1000Genomes
rs773787911
CA8045317
725 F>C No ClinGen
ExAC
gnomAD
TCGA novel 725 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760656911
CA280289217
730 N>I No ClinGen
Ensembl
TCGA novel 730 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765768037
CA8045316
732 S>L No ClinGen
ExAC
gnomAD
rs1169865503
CA395828025
734 S>C No ClinGen
TOPMed
CA8045315
rs759991200
738 I>V No ClinGen
ExAC
gnomAD
rs776970232
CA8045314
739 I>F No ClinGen
ExAC
gnomAD
CA395827988
rs1459650879
739 I>M No ClinGen
TOPMed
CA395827990
rs1369063310
739 I>T No ClinGen
TOPMed
rs776970232
CA395827992
739 I>V No ClinGen
ExAC
gnomAD
CA8045313
rs771390924
740 T>I No ClinGen
ExAC
gnomAD
CA8045311
rs773493128
741 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs747318507
CA8045312
741 K>Q No ClinGen
ExAC
gnomAD
CA8045287
rs768925721
746 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1481971178
CA395827928
747 T>R No ClinGen
TOPMed
rs376326345
CA395827920
748 F>L No ClinGen
ESP
ExAC
gnomAD
CA395827918
rs1269544715
749 V>M No ClinGen
TOPMed
rs769553106
CA8045284
750 G>R No ClinGen
ExAC
rs1278107646
CA395827891
753 F>L No ClinGen
gnomAD
CA8045282
rs780805094
756 P>L No ClinGen
ExAC
gnomAD
rs756188975
CA8045280
757 D>N No ClinGen
ExAC
gnomAD
rs777388793
CA8045279
761 G>R No ClinGen
ExAC
gnomAD
CA8045278
rs757913128
763 S>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 766 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395827804
rs752687078
766 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8045277
rs752687078
766 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8045275
rs761037186
769 E>D No ClinGen
ExAC
gnomAD
CA8045276
rs766939547
769 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1169830035
CA395827772
771 L>F No ClinGen
gnomAD
rs1409625854
CA395827752
774 E>K No ClinGen
TOPMed
TCGA novel 779 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8045254
rs750957574
780 M>I No ClinGen
ExAC
gnomAD
CA395827173
rs1238273899
780 M>L No ClinGen
gnomAD
rs371577144
CA8045255
780 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8045253
rs768125167
781 Q>K No ClinGen
ExAC
gnomAD
rs1597088266
CA395827164
781 Q>P No ClinGen
Ensembl
rs762282239
CA8045252
782 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA280284969
rs1015131408
784 L>R No ClinGen
gnomAD
rs751908308
CA8045251
785 S>G No ClinGen
ExAC
gnomAD
rs764444094
CA8045250
785 S>N No ClinGen
ExAC
gnomAD
CA395827118
rs1175239155
789 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395827113
rs1417491290
790 V>M No ClinGen
gnomAD
rs1567424083
CA395827105
791 G>C No ClinGen
Ensembl
CA8045249
rs763040334
791 G>V No ClinGen
ExAC
gnomAD
CA395827094
rs1178779510
792 M>I No ClinGen
gnomAD
rs1470879129
CA395827079
794 D>E No ClinGen
TOPMed
gnomAD
CA280284917
rs1010455229
795 P>L No ClinGen
TOPMed
CA395827071
rs1236278165
796 S>G No ClinGen
gnomAD
rs1443444017
CA395827050
798 R>S No ClinGen
gnomAD
CA395827043
rs890299500
800 P>S No ClinGen
TOPMed
gnomAD
CA280284880
rs890299500
800 P>T No ClinGen
TOPMed
gnomAD
rs1597088218
CA395827032
802 T>P No ClinGen
Ensembl
CA395827015
rs775762206
804 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA8045248
rs775762206
804 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1378614326
CA395827009
805 A>G No ClinGen
TOPMed
rs375239847
COSM1318583
CA8045246
812 P>L Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395826961
rs1286993054
812 P>S No ClinGen
gnomAD
rs772941241
CA8045242
814 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8045241
rs148110587
814 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772941241
CA280284857
814 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA395826950
rs1314507052
815 I>L No ClinGen
gnomAD
CA8045240
rs747796282
817 G>R No ClinGen
ExAC
CA280284810
rs941706825
818 A>V No ClinGen
TOPMed
rs1440438299
CA395826923
819 P>S No ClinGen
gnomAD
CA8045238
rs754505839
820 S>* No ClinGen
ExAC
gnomAD
CA395826917
rs754505839
820 S>L No ClinGen
ExAC
gnomAD
CA8045239
rs778622949
820 S>P No ClinGen
ExAC
gnomAD
CA395826910
rs1159344834
821 S>I No ClinGen
gnomAD
CA395826902
rs1348348476
822 H>L No ClinGen
TOPMed
rs1411019922
CA395826893
823 W>* No ClinGen
gnomAD
rs781766300
CA8045236
825 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs781766300
CA395826880
825 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1205118945
CA395826858
828 P>L No ClinGen
TOPMed
CA395826856
rs1234178860
829 H>D No ClinGen
TOPMed
CA395826854
rs1597088154
829 H>P No ClinGen
Ensembl
CA8045234
rs751998307
835 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA280284771
rs1032231099
837 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395826793
rs1211473217
839 L>F No ClinGen
gnomAD
CA280284749
rs999425050
843 L>P No ClinGen
TOPMed
CA395826751
COSM703637
rs1411077446
845 M>I lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA280284739
rs752932974
845 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA8045231
rs752932974
845 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs765438718
CA8045230
847 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs765438718
CA395826742
847 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1040893709
CA280284693
852 A>V No ClinGen
TOPMed
gnomAD
CA280284682
rs375076343
853 E>K No ClinGen
ESP
TOPMed
gnomAD
CA395826694
rs1295050845
854 T>S No ClinGen
gnomAD
rs759535052
CA8045228
855 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1289178389
CA395826685
856 E>K No ClinGen
gnomAD
CA8045226
rs766322797
859 E>A No ClinGen
ExAC
gnomAD
rs1347684605
CA395826648
861 L>P No ClinGen
gnomAD
CA8045225
rs760653621
867 D>E No ClinGen
ExAC
gnomAD
rs771829560
CA8045223
869 E>G No ClinGen
ExAC
gnomAD
COSM435309
rs773100602
CA8045224
869 E>Q Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
rs747961360
CA8045222
874 I>T No ClinGen
ExAC
gnomAD
CA280284625
rs927570784
876 Q>E No ClinGen
TOPMed
rs1369972680
CA395826543
877 I>V No ClinGen
TOPMed
rs920819190
CA280284611
883 Y>D No ClinGen
TOPMed
rs1420709997
CA395826496
884 M>V No ClinGen
gnomAD
CA8045219
rs748840043
887 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA280284569
rs968702888
887 L>P No ClinGen
TOPMed
gnomAD
CA395826464
rs1222494249
888 N>S No ClinGen
gnomAD
rs779663403
CA8045218
889 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8045216
rs747562200
892 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 893 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with O75113

1 regional properties for O75113

Type Name Position InterPro Accession
domain Ribonuclease Zc3h12a-like, NYN domain 617 - 769 IPR021869

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytosol
  • Nucleus
  • Nucleus, nucleolus
  • Nucleus, PML body
  • Primarily localizes to the nucleolus
  • Also localizes to the PML nuclear bodies, when desumoylated
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.
PML body A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.

3 GO annotations of molecular function

Name Definition
mRNA binding Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
ribonuclease activity Catalysis of the hydrolysis of phosphodiester bonds in chains of RNA.
ubiquitin binding Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.

7 GO annotations of biological process

Name Definition
cellular response to UV Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of cytokine production Any process that stops, prevents, or reduces the rate of production of a cytokine.
negative regulation of proteasomal ubiquitin-dependent protein catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of 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.
negative regulation of protein ubiquitination Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein.
negative regulation of viral genome replication Any process that stops, prevents, or reduces the frequency, rate or extent of viral genome replication.
regulation of innate immune response Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9P2P1 NYNRIN Protein NYNRIN Homo sapiens (Human) PR
Q8R2N0 Ccdc59 Thyroid transcription factor 1-associated protein 26 Mus musculus (Mouse) PR
10 20 30 40 50 60
MAARAVLDEF TAPAEKAELL EQSRGRIEGL FGVSLAVLGA LGAEEPLPAR IWLQLCGAQE
70 80 90 100 110 120
AVHSAKEYIK GICEPELEER ECYPKDMHCI FVGAESLFLK SLIQDTCADL CILDIGLLGI
130 140 150 160 170 180
RGSAEAVVMA RSHIQQFVKL FENKENLPSS QKESEVKREF KQFVEAHADN YTMDLLILPT
190 200 210 220 230 240
SLKKELLTLT QGEENLFETG DDEVIEMRDS QQTEFTQNAA TGLNISRDET VLQEEARNKA
250 260 270 280 290 300
GTPVSELTKQ MDTVLSSSPD VLFDPINGLT PDEEALSNER ICQKRRFSDS EERHTKKQFS
310 320 330 340 350 360
LENVQEGEIL HDAKTLAGNV IADLSDSSAD SENLSPDIKE TTEEMEYNIL VNFFKTMGYS
370 380 390 400 410 420
QEIVEKVIKV YGPSTEPLLL LEEIEKENKR FQEDREFSAG TVYPETNKTK NKGVYSSTNE
430 440 450 460 470 480
LTTDSTPKKT QAHTQQNMVE KFSQLPFKVE AKPCTSNCRI NTFRTVPIEQ KHEVWGSNQN
490 500 510 520 530 540
YICNTDPETD GLSPSVASPS PKEVNFVSRG ASSHQPRVPL FPENGLHQQP EPLLPNNMKS
550 560 570 580 590 600
ACEKRLGCCS SPHSKPNCST LSPPMPLPQL LPSVTDARSA GPSDHIDSSV TGVQRFRDTL
610 620 630 640 650 660
KIPYKLELKN EPGRTDLKHI VIDGSNVAIT HGLKKFFSCR GIAIAVEYFW KLGNRNITVF
670 680 690 700 710 720
VPQWRTRRDP NVTEQHFLTQ LQELGILSLT PARMVFGERI ASHDDRFLLH LADKTGGIIV
730 740 750 760 770 780
TNDNFREFVN ESVSWREIIT KRLLQYTFVG DIFMVPDDPL GRSGPRLEEF LQKEVCLRDM
790 800 810 820 830 840
QPLLSALPNV GMFDPSFRVP GTQAASTSHQ PPTRIQGAPS SHWLPQQPHF PLLPALPSLQ
850 860 870 880 890
QNLPMPAQRS SAETNELREA LLKIFPDSEQ RLKIDQILVA HPYMKDLNAL SAMVLD