Descriptions

KIF17 is dendrite-specific motor protein which, in association with the Apba1-containing complex (LIN-10-LIN-2-LIN-7 complex), transports vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules.
Two molecular mechanisms contribute to autoinhibition of KIF17. First, the C-terminal tail interferes with microtubule binding. Second, a CC2 segment blocks processive motility.The CC2 and tail segments inhibit KIF17 motility via direct interactions with the motor domain.

Autoinhibitory domains (AIDs)

Target domain

3-343 (Kinesin motor domain)

Relief mechanism

Assay

Mutagenesis experiment, Deletion assay, Split protein assay

Target domain

3-343 (Kinesin motor domain)

Relief mechanism

Partner binding

Assay

Deletion assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9P2E2

Entry ID Method Resolution Chain Position Source
AF-Q9P2E2-F1 Predicted AlphaFoldDB

954 variants for Q9P2E2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA662497
rs780706160
2 A>P No ClinGen
ExAC
gnomAD
rs780706160
CA338839883
2 A>S No ClinGen
ExAC
gnomAD
rs1004763870
CA18987430
2 A>V No ClinGen
TOPMed
rs1219845071
CA338839852
3 S>F No ClinGen
TOPMed
CA662494
rs778812661
4 E>K No ClinGen
ExAC
gnomAD
CA662493
rs757530650
5 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1215142599
CA338839795
6 V>A No ClinGen
gnomAD
CA338839769
rs1553153537
7 K>N No ClinGen
Ensembl
CA662491
rs532543247
8 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1570493902
CA338839766
8 V>I No ClinGen
Ensembl
CA338839750
rs1406373329
9 V>A No ClinGen
gnomAD
CA338839751
rs1406373329
9 V>D No ClinGen
gnomAD
CA662490
rs755892107
9 V>I No ClinGen
ExAC
gnomAD
CA338839734
rs1465882937
10 V>L No ClinGen
gnomAD
rs754531858
CA662487
11 R>H No ClinGen
ExAC
gnomAD
CA338839723
rs1553153532
11 R>S No ClinGen
Ensembl
rs765763185
CA662485
13 R>C No ClinGen
ExAC
gnomAD
rs765763185
CA662486
13 R>G No ClinGen
ExAC
gnomAD
rs762667120
CA662484
13 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1402270155
CA338839641
15 M>T No ClinGen
TOPMed
CA662482
rs572876276
18 R>P No ClinGen
1000Genomes
ExAC
gnomAD
CA338839586
rs1446601141
18 R>W No ClinGen
gnomAD
rs1482142319
CA338839555
20 R>* No ClinGen
gnomAD
rs1171298954
CA338839552
20 R>P No ClinGen
TOPMed
CA18987355
rs1055605715
23 R>C No ClinGen
TOPMed
gnomAD
CA662481
rs776191053
23 R>H No ClinGen
ExAC
gnomAD
CA662480
rs776191053
23 R>L No ClinGen
ExAC
gnomAD
CA338839474
rs1247534798
25 Q>R No ClinGen
gnomAD
CA338839463
rs772732709
26 P>L No ClinGen
ExAC
gnomAD
CA662479
rs772732709
26 P>R No ClinGen
ExAC
gnomAD
rs1393974990
CA338839456
27 V>A No ClinGen
gnomAD
rs746325098
CA662478
29 T>A No ClinGen
ExAC
gnomAD
rs1300330264
CA338839431
30 V>L No ClinGen
TOPMed
gnomAD
rs774494609
CA662477
31 D>Y No ClinGen
ExAC
CA338839409
rs1430894315
32 C>G No ClinGen
gnomAD
CA662476
rs770860704
34 R>C No ClinGen
ExAC
gnomAD
CA338839383
rs1166754399
34 R>H No ClinGen
gnomAD
rs1369181089
CA338839374
35 A>D No ClinGen
gnomAD
rs1426654302
CA338839376
35 A>S No ClinGen
TOPMed
gnomAD
rs1426654302
CA338839379
35 A>T No ClinGen
TOPMed
gnomAD
CA662474
rs777852742
36 Q>K No ClinGen
ExAC
gnomAD
rs1422351187
CA338839364
36 Q>P No ClinGen
gnomAD
rs1482647850
CA338839336
38 C>F No ClinGen
gnomAD
CA338839343
rs1182640737
38 C>R No ClinGen
gnomAD
rs1182640737
CA338839341
38 C>S No ClinGen
gnomAD
rs1272428360
CA338839320
40 Q>E No ClinGen
TOPMed
gnomAD
CA338839314
rs1224008918
40 Q>R No ClinGen
TOPMed
gnomAD
COSM1338594
CA662472
rs747916325
42 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1242146201
CA338839276
43 G>A No ClinGen
gnomAD
rs146128405
CA662470
44 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA662466
rs750134074
46 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs915491135
CA338839250
46 D>H No ClinGen
TOPMed
gnomAD
rs915491135
CA18987249
46 D>N No ClinGen
TOPMed
gnomAD
rs764963538
CA338838707
47 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs764963538
CA662465
47 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA338838648
rs1391544356
48 P>L No ClinGen
TOPMed
gnomAD
CA338838651
rs1391544356
48 P>R No ClinGen
TOPMed
gnomAD
CA338838639
rs1397978042
49 P>R No ClinGen
TOPMed
CA662463
rs149468609
50 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338838625
rs1159571483
50 K>R No ClinGen
gnomAD
CA338838598
rs1369184277
51 Q>E No ClinGen
TOPMed
rs1472154347
CA338838591
51 Q>R No ClinGen
gnomAD
rs1249408167
CA338838532
52 F>L No ClinGen
gnomAD
rs767926945
CA662462
53 T>A No ClinGen
ExAC
gnomAD
rs979546888
CA18987206
53 T>I No ClinGen
TOPMed
gnomAD
rs1443052196
CA338838516
54 F>I No ClinGen
TOPMed
CA338838492
rs1570493434
54 F>L No ClinGen
Ensembl
rs369480851
CA338838475
55 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369480851
CA18987201
55 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749295230
CA662458
57 A>S No ClinGen
ExAC
gnomAD
CA338838390
rs1328875785
60 V>G No ClinGen
gnomAD
CA338838399
rs1227456930
60 V>M No ClinGen
gnomAD
rs770025824
CA662456
61 D>H No ClinGen
ExAC
gnomAD
rs780967251
CA662454
62 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA662455
rs748329683
62 H>Y No ClinGen
ExAC
gnomAD
rs1385187567
CA338838319
64 T>A No ClinGen
gnomAD
rs147438943
CA662453
65 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA18987091
rs142917123
67 I>M No ClinGen
ESP
CA662450
rs779848495
67 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA338838261
rs1478277348
68 Y>H No ClinGen
TOPMed
gnomAD
CA338838255
rs1355347449
68 Y>S No ClinGen
TOPMed
rs757978308
CA662449
69 N>S No ClinGen
ExAC
gnomAD
CA662448
rs749926705
70 E>D No ClinGen
ExAC
gnomAD
rs778529576
CA662447
72 A>T No ClinGen
ExAC
gnomAD
rs1248154006
CA338838189
72 A>V No ClinGen
TOPMed
gnomAD
CA662445
rs554062697
74 P>L No ClinGen
ExAC
gnomAD
CA662446
rs756978243
74 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs756978243
CA338838167
74 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA662444
rs768053338
77 E>D No ClinGen
ExAC
gnomAD
rs765354547
CA662419
78 G>D No ClinGen
ExAC
gnomAD
COSM328041
rs748366715
CA662417
79 V>I pancreas large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs944238547
CA18985761
80 T>A No ClinGen
TOPMed
rs768786059
CA662416
80 T>S No ClinGen
ExAC
gnomAD
rs865804340
CA18985754
82 G>D No ClinGen
Ensembl
rs143703360
CA18985749
83 Y>H No ClinGen
ESP
TOPMed
gnomAD
CA338837958
rs1385441279
84 N>D No ClinGen
TOPMed
CA18985738
rs1013323046
84 N>S No ClinGen
TOPMed
rs12046928
CA662411
90 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338837886
rs1407962161
90 Y>C No ClinGen
gnomAD
rs770606552
CA338837868
91 G>R No ClinGen
ExAC
gnomAD
CA662409
rs770606552
91 G>S No ClinGen
ExAC
gnomAD
rs748782808
CA662408
92 Q>H No ClinGen
ExAC
gnomAD
rs1196391038
CA338837793
94 G>V No ClinGen
TOPMed
CA338837756
rs1163164589
95 S>I No ClinGen
TOPMed
gnomAD
CA338837747
rs1570490449
96 G>E No ClinGen
Ensembl
rs991182633
CA18985688
96 G>R No ClinGen
gnomAD
rs755751918
CA662406
97 K>Q No ClinGen
ExAC
gnomAD
rs1253040464
CA338837697
98 S>Y No ClinGen
gnomAD
CA338837665
rs1570490427
100 T>P No ClinGen
Ensembl
CA338837645
rs1180451049
101 M>V No ClinGen
gnomAD
rs139355427
CA338837549
105 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139355427
CA662404
105 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758746393
CA662402
107 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA18985642
rs1003177478
108 P>L No ClinGen
Ensembl
CA338837408
rs1288016031
110 Q>L No ClinGen
gnomAD
COSM3360618
CA662399
rs35835983
111 R>G kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338837336
rs1287560260
112 G>D No ClinGen
TOPMed
gnomAD
CA338837331
rs1287560260
112 G>V No ClinGen
TOPMed
gnomAD
rs1293535419
CA338837257
115 P>S No ClinGen
gnomAD
rs138931507
CA662397
116 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760824096
CA662396
117 A>D No ClinGen
ExAC
gnomAD
rs79832278
CA338836685
118 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs79832278
CA662394
118 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338836675
COSM3418702
rs376781948
119 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA662393
rs376781948
119 E>Q No ClinGen
ESP
ExAC
gnomAD
CA662392
rs574280002
120 H>L No ClinGen
1000Genomes
ExAC
gnomAD
CA18985608
rs138024708
121 V>L No ClinGen
ESP
ExAC
gnomAD
CA662390
rs138024708
121 V>M No ClinGen
ESP
ExAC
gnomAD
rs539132183
CA18985605
123 E>K No ClinGen
TOPMed
gnomAD
CA18985597
rs146714930
125 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1320507
CA662387
rs146714930
125 V>I ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA18985598
rs146714930
125 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338836167
rs1381787904
127 C>Y No ClinGen
gnomAD
rs781378925
CA662360
131 T>A No ClinGen
ExAC
gnomAD
CA338836136
rs1237749465
132 K>E No ClinGen
TOPMed
rs751773843
CA662358
135 V>I No ClinGen
ExAC
gnomAD
rs750363854
CA662356
136 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs750363854
CA662355
136 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA662357
rs766334139
136 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1002067440
CA18983859
139 Y>H No ClinGen
gnomAD
CA662354
rs536519322
140 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs761604974
CA662353
142 I>M No ClinGen
ExAC
gnomAD
CA662351
rs768097968
143 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA662352
rs776211913
143 Y>C No ClinGen
ExAC
gnomAD
rs760379606
CA662350
144 N>S No ClinGen
ExAC
gnomAD
CA662349
rs775119585
146 D>E No ClinGen
ExAC
gnomAD
CA662348
rs200770891
147 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs114164909
CA338836038
148 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs371219583
CA662346
148 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371219583
CA662345
148 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs114164909
CA662347
148 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1411048825
CA338836028
150 L>I No ClinGen
gnomAD
CA662344
rs376897579
155 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781431910
CA662343
157 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1163754002
CA338835764
157 Q>R No ClinGen
gnomAD
CA338834766
rs1174242812
161 L>V No ClinGen
gnomAD
CA338834739
rs1337253002
163 E>Q No ClinGen
TOPMed
rs1376516475
CA338834714
165 P>S No ClinGen
gnomAD
rs752238928
CA662314
166 E>G No ClinGen
ExAC
gnomAD
CA662315
rs539396446
166 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs547253363
CA662312
169 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs547253363
CA662311
169 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338834613
rs1282683938
170 Y>F No ClinGen
gnomAD
rs370161843
CA338834587
171 V>A No ClinGen
ESP
ExAC
gnomAD
rs370161843
CA662306
171 V>E No ClinGen
ESP
ExAC
gnomAD
rs149625740
CA662308
171 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149625740
CA662307
171 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1232225620
CA338834556
173 G>E No ClinGen
gnomAD
rs143810502
CA662304
176 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA662302
rs778972017
176 M>T No ClinGen
ExAC
gnomAD
rs143810502
CA662303
176 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338834491
rs1324453257
177 H>N No ClinGen
gnomAD
CA18981076
rs958533619
177 H>Q No ClinGen
gnomAD
CA338834468
COSM1338591
rs1414901196
178 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA662299
rs777507035
181 S>R No ClinGen
ExAC
gnomAD
rs377444908
CA662297
182 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338834390
rs1474258144
183 A>T No ClinGen
TOPMed
gnomAD
CA338834320
rs1240669341
185 C>R No ClinGen
gnomAD
CA338834296
rs1190059844
186 E>* No ClinGen
gnomAD
CA662296
rs200398452
186 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1557604743
CA338834283
187 H>R No ClinGen
Ensembl
rs771781577
CA18981001
189 M>R No ClinGen
Ensembl
CA18981007
rs970813515
189 M>V No ClinGen
TOPMed
gnomAD
CA338834193
rs1257461920
190 E>D No ClinGen
gnomAD
CA338834188
rs1384691104
191 T>A No ClinGen
TOPMed
rs79606717
CA662294
194 K>E No ClinGen
Ensembl
rs754438385
CA662293
196 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs144250827
CA662292
196 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA662290
rs762645455
197 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA662291
rs762645455
197 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA662288
rs369376665
199 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338833993
rs1354632834
199 G>D No ClinGen
gnomAD
CA662287
rs369376665
199 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338833950
rs1168143846
201 T>A No ClinGen
TOPMed
CA662286
rs775858871
201 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA662285
rs772235015
203 M>L No ClinGen
ExAC
gnomAD
COSM1212383
rs1407793115
CA338833722
210 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA338833653
rs1165316751
212 S>C No ClinGen
gnomAD
rs1570479590
CA338833644
213 I>F No ClinGen
Ensembl
rs762611471
CA18980906
213 I>T No ClinGen
TOPMed
gnomAD
rs200568311
CA662281
216 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777560283
CA662280
218 I>F No ClinGen
ExAC
gnomAD
CA662279
rs748147904
218 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs780956478
CA662277
219 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA338833524
rs1292262756
220 M>K No ClinGen
gnomAD
rs751053357
CA662275
223 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1449795682
CA338833416
224 D>Y No ClinGen
gnomAD
CA338873313
rs1570474092
225 E>K No ClinGen
Ensembl
rs201696480
CA662237
226 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA662238
rs762937507
COSM678771
226 R>W lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs771757364
CA662235
227 G>D No ClinGen
ExAC
gnomAD
CA662236
rs775538844
227 G>R No ClinGen
ExAC
gnomAD
CA662234
rs745395112
229 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1570474055
CA338873282
230 H>P No ClinGen
Ensembl
rs778529699
CA662233
231 L>F No ClinGen
ExAC
gnomAD
CA19013243
rs927719157
231 L>H No ClinGen
Ensembl
CA662231
rs557415265
232 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA662232
COSM1212382
rs756868351
232 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA662230
rs781470496
233 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs766846267
CA662227
235 K>R No ClinGen
ExAC
gnomAD
CA338873240
rs1434163456
237 N>K No ClinGen
gnomAD
rs758850766
CA662226
242 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA19013196
rs140286098
244 S>N No ClinGen
ESP
TOPMed
gnomAD
CA19013188
rs964409495
246 R>Q No ClinGen
TOPMed
gnomAD
CA662224
rs765233832
246 R>W No ClinGen
ExAC
gnomAD
rs1484166382
CA338873173
248 S>F No ClinGen
gnomAD
rs776643012
CA662219
251 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs776643012
CA662220
251 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs772168049
CA662218
253 T>A No ClinGen
ExAC
gnomAD
rs745736271
CA662217
253 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA19013131
rs372872118
255 E>K No ClinGen
ESP
TOPMed
gnomAD
CA662213
rs777448525
256 R>Q No ClinGen
ExAC
gnomAD
CA662214
rs534767695
256 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA662212
rs768947896
257 L>I No ClinGen
ExAC
gnomAD
rs1399009603
CA338873118
258 K>N No ClinGen
TOPMed
rs780352465
CA662210
258 K>R No ClinGen
ExAC
gnomAD
CA338873104
rs1372741853
260 A>G No ClinGen
gnomAD
rs1462629326
CA338873106
260 A>T No ClinGen
gnomAD
CA338873103
rs1372741853
260 A>V No ClinGen
gnomAD
CA338873095
rs1168664491
262 K>E No ClinGen
gnomAD
rs750870052
CA662208
262 K>N No ClinGen
ExAC
gnomAD
CA662209
rs116683388
262 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA662207
rs200488493
263 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA662206
rs757329825
266 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA19013080
rs770330549
267 L>F No ClinGen
Ensembl
rs567226732
CA662204
268 S>L No ClinGen
1000Genomes
ExAC
gnomAD
CA338873056
rs1478383271
269 A>T No ClinGen
TOPMed
CA338873053
rs1438881063
269 A>V No ClinGen
TOPMed
gnomAD
rs1214369075
CA338873047
270 L>P No ClinGen
TOPMed
rs1256373121
CA338873035
272 N>S No ClinGen
Ensembl
rs759607594
CA662200
274 I>T No ClinGen
ExAC
gnomAD
rs201078177
CA662198
275 S>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA662199
rs201078177
275 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762499616
CA662197
276 A>V No ClinGen
ExAC
gnomAD
rs760901035
CA19013046
279 D>N No ClinGen
Ensembl
CA662195
rs769513525
279 D>V No ClinGen
ExAC
gnomAD
CA662192
rs772411168
280 G>E No ClinGen
ExAC
gnomAD
CA662193
rs780409575
280 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs746439314
CA662191
281 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA662190
rs779454886
281 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs757658677
CA662189
284 H>P No ClinGen
ExAC
gnomAD
COSM1501170
CA19013026
rs755947089
284 H>Y lung [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1005064749
CA19013018
285 V>A No ClinGen
Ensembl
rs777648602
CA19013021
285 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs777648602
COSM146437
CA662187
285 V>I stomach [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA662184
rs767489017
288 R>C No ClinGen
ExAC
TOPMed
CA662183
rs199932440
288 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766360804
CA662181
290 S>L No ClinGen
ExAC
gnomAD
rs762755460
CA662180
293 T>A No ClinGen
ExAC
gnomAD
CA662179
rs772780186
COSM1741236
293 T>M urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs776259696
CA662176
294 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs140621013
CA662177
294 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1557601957
CA338872869
301 G>C No ClinGen
Ensembl
CA19012888
rs989132100
301 G>D No ClinGen
Ensembl
rs142534674
CA662171
302 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338872859
rs1159074768
303 N>D No ClinGen
gnomAD
rs144287595
CA338872848
304 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144287595
CA662170
304 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA662168
rs756260623
305 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA338872842
rs748423151
305 K>N No ClinGen
ExAC
gnomAD
CA338872846
rs756260623
305 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1454417381
CA338872844
305 K>R No ClinGen
TOPMed
gnomAD
COSM3376955
CA662166
rs370700388
306 T>M pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs766018489
CA662163
309 V>L No ClinGen
ExAC
rs750314557
CA662161
310 A>T No ClinGen
ExAC
gnomAD
rs761281123
CA662159
311 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA338872803
rs1019450527
312 L>M No ClinGen
TOPMed
gnomAD
rs1019450527
CA19012750
312 L>V No ClinGen
TOPMed
gnomAD
CA662157
rs144903116
313 S>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM903383
rs144903116
CA662158
313 S>L endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA662156
rs528572676
315 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749874856
CA662153
316 D>N No ClinGen
ExAC
gnomAD
rs773566005
CA662152
317 N>H No ClinGen
ExAC
gnomAD
CA338872766
rs1381513869
318 N>S No ClinGen
gnomAD
rs1239398735
CA338872758
319 Y>C No ClinGen
TOPMed
rs139202591
CA662148
320 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139202591
CA662149
320 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA662147
rs755253390
322 T>I No ClinGen
ExAC
gnomAD
CA338872728
rs1203964412
324 S>G No ClinGen
Ensembl
CA662145
rs779956063
325 T>A No ClinGen
ExAC
gnomAD
rs758122496
CA662144
325 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs201625621
CA662141
327 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338872711
COSM1338586
rs1260237300
327 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA662142
rs201625621
327 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338872702
rs116806262
328 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760437431
CA662138
330 N>I No ClinGen
ExAC
gnomAD
rs760437431
CA662139
330 N>S No ClinGen
ExAC
gnomAD
CA662136
rs202087220
331 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM2151840
rs139912475
CA662137
331 R>W central_nervous_system [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA662135
rs368424833
332 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1270514571
CA338872680
333 K>Q No ClinGen
gnomAD
CA338872668
rs1366650655
334 N>S No ClinGen
TOPMed
CA662132
rs762341534
336 R>S No ClinGen
ExAC
gnomAD
rs776860804
CA338872645
337 N>K No ClinGen
ExAC
gnomAD
CA662131
rs776860804
337 N>K No ClinGen
ExAC
gnomAD
rs368021087
CA662130
339 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA662128
COSM1166358
rs780108776
340 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs149337781
CA662127
340 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338872627
rs2296225
341 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778612010
CA662125
341 I>N No ClinGen
ExAC
TOPMed
gnomAD
VAR_055983
CA662126
rs2296225
341 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs757201811
CA662124
342 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA662123
rs147080288
342 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1220009686
CA338872597
345 P>L No ClinGen
TOPMed
rs1475830383
CA338872590
346 K>R No ClinGen
TOPMed
gnomAD
CA338872585
rs1256816711
347 D>H No ClinGen
gnomAD
CA338872574
rs150946378
348 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150946378
CA662121
348 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338872568
COSM903382
rs1195511154
350 L>F endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs767101609
CA662119
351 R>C No ClinGen
ExAC
gnomAD
CA19012486
rs374159508
351 R>H No ClinGen
ESP
TOPMed
gnomAD
CA662117
rs141566878
352 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA662116
rs765637388
355 E>G No ClinGen
ExAC
gnomAD
rs762464381
CA662115
356 E>D No ClinGen
ExAC
gnomAD
rs868344609
CA19012480
356 E>K No ClinGen
Ensembl
CA662114
rs777271601
357 I>V No ClinGen
ExAC
CA338872514
rs1290017757
358 K>* No ClinGen
TOPMed
CA338872493
rs1354654743
361 K>E No ClinGen
gnomAD
CA662111
rs368449465
363 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1570473126
CA338872476
363 I>T No ClinGen
Ensembl
rs1480534082
CA338872479
363 I>V No ClinGen
TOPMed
CA662109
rs772189322
365 T>A No ClinGen
ExAC
gnomAD
CA662108
rs376173045
365 T>I No ClinGen
ESP
ExAC
gnomAD
CA662106
rs114221851
366 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA662105
rs749266864
366 Q>L No ClinGen
ExAC
gnomAD
rs1479276190
CA338872449
368 M>L No ClinGen
gnomAD
CA662104
rs56750936
VAR_061282
369 S>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA662103
rs201716162
370 P>A No ClinGen
1000Genomes
ExAC
rs752176653
CA662102
371 S>G No ClinGen
ExAC
gnomAD
COSM903381
rs1467421996
CA338872413
373 L>P endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs146004450
CA662100
375 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338872017
rs1570465963
381 V>G No ClinGen
Ensembl
rs748057322
CA662083
381 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA338871995
rs1427405044
383 P>L No ClinGen
TOPMed
CA338871988
rs1346325838
384 D>G No ClinGen
gnomAD
CA338871971
rs1417902463
385 P>L No ClinGen
gnomAD
CA338871977
rs1159074407
385 P>S No ClinGen
gnomAD
rs1557598599
CA338871965
386 V>E No ClinGen
Ensembl
rs1174486481
CA338871931
389 E>Q No ClinGen
TOPMed
gnomAD
rs754503405
CA662080
392 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA19006914
rs754503405
392 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs926634552
CA19006912
393 L>W No ClinGen
Ensembl
rs746697901
CA662079
394 P>L No ClinGen
ExAC
gnomAD
CA662078
rs779828987
395 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA19006898
rs1045368209
395 Q>H No ClinGen
TOPMed
gnomAD
CA662077
rs758075169
397 V>M No ClinGen
ExAC
gnomAD
rs754285551
CA662076
399 Q>P No ClinGen
ExAC
gnomAD
CA662075
rs764463105
400 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs522496
CA338871770
402 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA662074
rs522496
VAR_023527
402 V>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA19006853
rs76966292
403 E>* No ClinGen
Ensembl
CA338871738
rs1570465808
404 A>V No ClinGen
Ensembl
rs199771446
CA662071
405 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA662072
rs199771446
405 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1332615959
CA338871702
407 Q>* No ClinGen
TOPMed
CA662067
rs373523975
COSM903376
410 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA662068
rs369680598
410 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758439125
CA662027
412 E>G No ClinGen
ExAC
gnomAD
CA338870905
rs1158360201
413 Y>* No ClinGen
TOPMed
CA338870924
rs1164110018
413 Y>D No ClinGen
gnomAD
CA338870887
rs1456340363
414 E>G No ClinGen
gnomAD
CA338870872
rs1312763468
415 E>* No ClinGen
gnomAD
rs750658619
CA662026
416 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA662025
rs148294907
416 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148294907
CA18998759
416 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1570456067
CA338870823
417 L>P No ClinGen
Ensembl
CA338870827
rs1356843958
417 L>V No ClinGen
TOPMed
gnomAD
rs527764404
CA338870792
419 R>L No ClinGen
1000Genomes
ExAC
TOPMed
rs527764404
CA662021
419 R>P No ClinGen
1000Genomes
ExAC
TOPMed
CA662020
rs527764404
419 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
CA662022
rs369702366
419 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs967670614
CA18998720
422 A>T No ClinGen
TOPMed
rs560262440
CA662017
423 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs770624460
CA662016
426 A>S No ClinGen
ExAC
gnomAD
CA662015
rs748839142
426 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1353120814
CA338870625
427 E>G No ClinGen
gnomAD
rs138004364
CA662012
427 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138004364
CA662013
427 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338870608
rs1307341539
428 Q>* No ClinGen
gnomAD
CA662011
rs780513841
429 E>D No ClinGen
ExAC
gnomAD
rs1570455963
CA338870575
430 S>A No ClinGen
Ensembl
CA662009
rs750546120
431 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA662010
rs201195116
431 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338870524
rs1570455941
433 R>S No ClinGen
Ensembl
CA18998683
rs965429035
434 L>M No ClinGen
Ensembl
CA338870474
rs1327263707
436 E>A No ClinGen
TOPMed
CA18998670
rs759239961
440 A>T No ClinGen
Ensembl
CA338870419
rs1570455916
440 A>V No ClinGen
Ensembl
CA662006
rs754109592
441 M>I No ClinGen
ExAC
gnomAD
CA662007
rs757513855
441 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA338870415
rs1317971715
441 M>V No ClinGen
TOPMed
CA662004
rs562792585
COSM1338573
442 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA662005
rs562792585
442 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs140125368
CA662003
442 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA662002
rs767597163
444 S>L No ClinGen
ExAC
gnomAD
CA338870371
rs1396024580
445 Y>H No ClinGen
gnomAD
CA661998
rs141125042
447 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661996
rs769055081
451 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1570455853
CA338870266
451 T>P No ClinGen
Ensembl
rs1283989151
CA338870220
454 E>K No ClinGen
gnomAD
rs1236686639
CA338870183
455 N>K No ClinGen
TOPMed
gnomAD
rs1202754771
CA338870170
456 L>P No ClinGen
TOPMed
rs186246358
CA661991
COSM182838
457 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSM1338572
rs746302711
CA661992
457 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs112930242
CA338870129
458 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661989
rs749572531
459 E>G No ClinGen
ExAC
gnomAD
CA18997224
rs936575779
462 A>D No ClinGen
Ensembl
CA661968
rs553516160
463 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338869369
rs1475574613
464 L>V No ClinGen
gnomAD
rs1030234102
CA18997218
COSM131050
466 V>L liver [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA338869345
rs1030234102
466 V>M No ClinGen
TOPMed
gnomAD
rs371293452
CA661967
469 L>F No ClinGen
ESP
ExAC
gnomAD
rs1371663412
CA338869304
472 A>P No ClinGen
TOPMed
CA338869295
rs1197754955
473 E>G No ClinGen
gnomAD
CA661963
rs781103880
475 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA661964
rs756582673
475 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA661962
rs754694005
477 R>G No ClinGen
ExAC
gnomAD
CA338869271
rs1281927521
477 R>K No ClinGen
gnomAD
CA661960
rs200416385
478 A>D No ClinGen
1000Genomes
ExAC
gnomAD
CA661961
rs751561906
478 A>T No ClinGen
ExAC
gnomAD
rs758293573
CA661959
480 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs867454014
CA18997198
481 A>V No ClinGen
Ensembl
CA338869241
rs1163395535
482 S>G No ClinGen
TOPMed
CA338869238
rs147249030
482 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661958
rs147249030
482 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661957
rs764670643
483 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs200073708
CA661956
484 A>T No ClinGen
ExAC
gnomAD
rs1406478222
CA338869208
485 E>* No ClinGen
gnomAD
rs753401086
CA661955
486 Y>* No ClinGen
ExAC
gnomAD
rs1570452775
CA338869193
486 Y>S No ClinGen
Ensembl
CA661954
rs534971002
487 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338869163
rs1233633573
489 A>T No ClinGen
gnomAD
CA18997171
rs191996405
490 F>L No ClinGen
1000Genomes
CA661951
rs771343541
491 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA338869116
rs1254671886
492 Y>C No ClinGen
gnomAD
rs773479871
CA661949
493 E>K No ClinGen
ExAC
gnomAD
CA661947
rs200910771
495 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661948
rs769986016
495 V>M No ClinGen
ExAC
gnomAD
CA338869075
rs1350815390
496 V>M No ClinGen
gnomAD
CA338869036
rs1210483010
499 K>E No ClinGen
TOPMed
CA338869027
rs1308071543
499 K>N No ClinGen
gnomAD
CA338869037
rs1210483010
499 K>Q No ClinGen
TOPMed
CA338868985
rs1261338046
502 S>F No ClinGen
TOPMed
rs74956681
CA18997122
502 S>P No ClinGen
Ensembl
rs768877673
CA661945
503 T>M No ClinGen
ExAC
gnomAD
rs768877673
CA338868974
503 T>R No ClinGen
ExAC
gnomAD
rs746813758
CA661943
506 T>S No ClinGen
ExAC
gnomAD
CA661942
rs115228567
507 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA661938
COSM532446
rs756737847
513 S>F lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA338868770
rs1557592625
515 T>I No ClinGen
Ensembl
CA338868755
rs1158209957
516 Q>* No ClinGen
gnomAD
CA338868759
rs1158209957
516 Q>K No ClinGen
gnomAD
CA338868746
rs1437838319
517 V>I No ClinGen
TOPMed
rs760306635
CA661935
522 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs138561064
CA661932
523 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338868633
rs1284703378
525 P>L No ClinGen
gnomAD
rs1213927356
CA338868622
526 K>R No ClinGen
TOPMed
gnomAD
rs1213927356
CA338868624
526 K>T No ClinGen
TOPMed
gnomAD
CA661931
rs773829153
527 V>A No ClinGen
ExAC
gnomAD
CA338868605
rs773829153
527 V>G No ClinGen
ExAC
gnomAD
rs761824033
CA661929
528 E>K No ClinGen
ExAC
gnomAD
CA18997071
rs947124230
535 S>F No ClinGen
TOPMed
gnomAD
CA338868462
rs1297692808
538 S>P No ClinGen
gnomAD
CA338868447
rs1377478877
539 S>N No ClinGen
gnomAD
rs115071410
CA661925
539 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747197585
CA661926
539 S>R No ClinGen
ExAC
gnomAD
rs986188668
CA18997063
541 S>L No ClinGen
TOPMed
gnomAD
rs1422872853
CA338868397
542 S>C No ClinGen
gnomAD
rs140327262
CA661923
543 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142146939
CA661918
545 E>D No ClinGen
ESP
ExAC
TOPMed
rs367672816
COSM3803773
CA661920
545 E>K breast [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA661919
rs367672816
545 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338868362
rs1231258919
547 T>A No ClinGen
TOPMed
CA338868360
rs1327469752
547 T>N No ClinGen
TOPMed
rs755778084
CA661917
549 V>L No ClinGen
ExAC
gnomAD
rs766885886
CA338868339
551 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs766885886
CA661915
551 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA338868315
rs1311912772
552 A>V No ClinGen
gnomAD
CA661914
rs762663001
553 F>I No ClinGen
ExAC
TOPMed
gnomAD
CA18997026
rs1039642164
554 P>T No ClinGen
gnomAD
rs528825687
CA661913
555 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs201867180
CA661910
559 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201867180
CA338868222
559 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338868190
rs775659554
562 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs775659554
CA338868188
562 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA661907
rs775659554
562 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1475709320
CA338868179
563 E>Q No ClinGen
TOPMed
rs987566615
CA18997008
564 V>A No ClinGen
Ensembl
CA661906
rs772233726
564 V>F No ClinGen
ExAC
gnomAD
rs745693652
CA661905
565 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA661902
rs770866526
566 M>R No ClinGen
ExAC
CA661904
rs770866526
566 M>T No ClinGen
ExAC
rs1422807383
CA338868120
567 P>L No ClinGen
TOPMed
gnomAD
CA338868112
rs1553150613
568 T>N No ClinGen
Ensembl
rs749233289
CA661901
570 E>G No ClinGen
ExAC
gnomAD
CA338868090
rs1168527505
570 E>K No ClinGen
gnomAD
rs1256254922
CA338868069
571 S>C No ClinGen
gnomAD
CA338868050
rs1553150610
573 S>G No ClinGen
Ensembl
CA18996990
rs370414135
573 S>N No ClinGen
ESP
TOPMed
gnomAD
rs200690761
CA18996984
574 R>K No ClinGen
ExAC
gnomAD
CA661899
rs200690761
574 R>T No ClinGen
ExAC
gnomAD
CA661898
rs747808678
575 Y>H No ClinGen
ExAC
gnomAD
rs1319082149
CA338868020
575 Y>S No ClinGen
gnomAD
rs1485428184
CA338867972
579 E>Q No ClinGen
TOPMed
rs116376356
CA661894
582 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757763220
CA661893
583 Q>* No ClinGen
ExAC
gnomAD
CA661892
rs754366304
583 Q>R No ClinGen
ExAC
gnomAD
rs1399342658
CA338867907
584 E>* No ClinGen
gnomAD
CA661890
rs149437507
586 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661889
rs149437507
586 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA18996945
rs896454556
590 L>M No ClinGen
TOPMed
CA338867830
rs1421595233
591 G>E No ClinGen
gnomAD
rs1373183872
CA338867817
593 Q>* No ClinGen
TOPMed
rs1309458094
CA338867812
593 Q>H No ClinGen
TOPMed
rs1410389829
CA338867804
594 N>K No ClinGen
TOPMed
CA338867800
rs1570452127
595 Y>S No ClinGen
Ensembl
CA18996924
rs138626725
596 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138626725
CA18996929
596 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661885
rs138626725
596 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661883
rs114593671
597 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA18996900
rs386629316
597 P>LE No ClinGen
Ensembl
rs114066292
CA661880
598 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661879
rs768439593
600 E>K No ClinGen
ExAC
gnomAD
rs114229809
CA661878
601 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757612024
CA661876
605 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA661875
rs754352442
607 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs778375616
CA661874
607 Q>P No ClinGen
ExAC
gnomAD
rs1442949792
CA338867708
610 L>V No ClinGen
TOPMed
gnomAD
CA661871
rs767569965
613 Q>* No ClinGen
ExAC
CA661870
rs759819527
613 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1158816257
CA338867675
615 P>L No ClinGen
TOPMed
gnomAD
CA661869
rs751746162
615 P>S No ClinGen
ExAC
gnomAD
CA661866
rs772846814
618 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs772846814
CA338867660
618 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs147702971
CA661865
621 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1268635212
CA338867616
624 A>V No ClinGen
gnomAD
rs761787665
CA661864
626 L>V No ClinGen
ExAC
gnomAD
rs141623204
CA661863
627 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141623204
CA661862
627 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA18996809
rs919387255
628 S>F No ClinGen
Ensembl
CA661858
rs150046748
630 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1470613330
CA338867577
631 A>V No ClinGen
TOPMed
rs370703332
CA661857
632 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661856
rs749668565
635 A>V No ClinGen
ExAC
gnomAD
CA661854
rs777941088
636 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs756670874
CA661853
637 Q>R No ClinGen
ExAC
gnomAD
CA661852
rs753195541
638 A>V No ClinGen
ExAC
gnomAD
CA338867526
rs1453525688
640 V>I No ClinGen
TOPMed
gnomAD
rs751586466
CA661850
641 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs751586466
CA661849
641 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs969571905
CA18996779
644 P>S No ClinGen
Ensembl
rs951888567
CA18996775
646 Q>R No ClinGen
TOPMed
rs1339484294
CA338866969
647 V>F No ClinGen
TOPMed
gnomAD
rs1331835621
CA338866959
648 P>S No ClinGen
gnomAD
rs187149276
CA18996040
649 A>S No ClinGen
1000Genomes
gnomAD
CA661827
rs200283228
649 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA661826
rs41310420
650 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1557591237
CA338866926
651 T>K No ClinGen
Ensembl
CA661825
rs757096227
653 L>R No ClinGen
ExAC
CA338866892
rs1230157568
654 L>P No ClinGen
TOPMed
gnomAD
rs866676069
CA18996035
655 E>D No ClinGen
Ensembl
rs137916833
CA661824
655 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs868019414
CA18996032
656 P>L No ClinGen
gnomAD
rs1238580943
CA338866838
659 A>D No ClinGen
gnomAD
CA18996008
rs201618051
661 P>H No ClinGen
1000Genomes
TOPMed
gnomAD
CA18996012
rs554741213
661 P>T No ClinGen
gnomAD
CA338866814
rs1228359913
662 E>K No ClinGen
gnomAD
CA18996001
rs866155205
663 A>S No ClinGen
gnomAD
rs766931618
CA661820
663 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1420708527
CA338866781
664 E>G No ClinGen
TOPMed
CA661818
rs773850446
664 E>K No ClinGen
ExAC
gnomAD
CA661817
rs770517273
665 A>T No ClinGen
ExAC
gnomAD
rs748540355
CA661816
665 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs769169459
CA661814
666 A>D No ClinGen
ExAC
gnomAD
CA338866754
rs769169459
666 A>V No ClinGen
ExAC
gnomAD
CA338866743
rs1406026608
667 D>E No ClinGen
TOPMed
gnomAD
CA661812
rs780249724
668 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA661813
rs747461477
668 D>H No ClinGen
ExAC
CA661811
rs758379251
669 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA661810
rs41312008
670 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338866699
rs1437634271
671 P>H No ClinGen
gnomAD
rs1437634271
CA338866695
671 P>L No ClinGen
gnomAD
rs1248378586
CA338866676
673 P>R No ClinGen
gnomAD
CA661774
rs774638949
674 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA661773
rs558760
VAR_055984
675 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA18995508
rs532054254
676 D>G No ClinGen
gnomAD
CA338866651
rs572966268
676 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs572966268
CA661772
676 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA338866641
rs1250202188
677 L>R No ClinGen
gnomAD
CA661770
rs770015366
679 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA661768
rs560975253
681 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs560975253
CA338866621
681 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA661767
rs754931904
682 A>P No ClinGen
ExAC
gnomAD
rs1357587938
CA338866600
684 E>G No ClinGen
TOPMed
gnomAD
rs1240591492
CA338866591
685 V>G No ClinGen
gnomAD
rs1288491634
CA338866596
685 V>M No ClinGen
TOPMed
gnomAD
rs1375947500
CA338866589
686 V>M No ClinGen
gnomAD
rs542213034
CA338866584
687 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779582888
CA661765
687 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs542213034
CA661766
687 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1322391307
CA338866580
688 T>A No ClinGen
TOPMed
rs1367645667
CA338866575
689 A>T No ClinGen
gnomAD
rs1292455232
CA338866570
689 A>V No ClinGen
gnomAD
CA18995487
rs1055989695
690 E>D No ClinGen
TOPMed
gnomAD
rs1158946568
CA338866558
691 P>L No ClinGen
gnomAD
CA18995486
rs937549224
691 P>S No ClinGen
gnomAD
rs937549224
CA338866562
691 P>T No ClinGen
gnomAD
rs1363587083
CA338866549
693 V>L No ClinGen
TOPMed
gnomAD
rs1363587083
CA338866551
693 V>M No ClinGen
TOPMed
gnomAD
CA338866542
rs1180209726
694 W>* No ClinGen
gnomAD
CA338866532
rs1239630847
695 L>W No ClinGen
gnomAD
CA338866528
rs1268092158
696 E>K No ClinGen
gnomAD
CA338866516
rs1198742909
697 A>V No ClinGen
gnomAD
CA338866513
rs1265611333
698 Q>* No ClinGen
TOPMed
gnomAD
CA338866514
rs1265611333
698 Q>K No ClinGen
TOPMed
gnomAD
CA661763
rs139742596
698 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764831126
CA661762
699 A>G No ClinGen
ExAC
gnomAD
rs764831126
CA338866504
699 A>V No ClinGen
ExAC
gnomAD
CA661761
rs541953044
700 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1570448262
CA338866493
701 V>G No ClinGen
Ensembl
rs1055036974
CA18995474
702 A>D No ClinGen
TOPMed
rs1282616813
CA338866492
702 A>T No ClinGen
gnomAD
CA661759
rs373137026
703 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1298355858
CA338866476
705 A>T No ClinGen
gnomAD
CA18995469
rs879010222
706 Q>* No ClinGen
Ensembl
CA338866463
rs1226540105
707 P>A No ClinGen
Ensembl
rs1384636925
CA338866459
707 P>L No ClinGen
gnomAD
rs1467934221
CA338866455
708 E>G No ClinGen
gnomAD
rs760160254
CA338866458
708 E>K No ClinGen
ExAC
gnomAD
rs760160254
CA661758
708 E>Q No ClinGen
ExAC
gnomAD
rs763152449
CA661755
709 P>L No ClinGen
ExAC
gnomAD
CA661756
rs766940874
709 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA338866451
rs766940874
709 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA661753
rs143758204
711 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338866441
rs773357079
711 P>S No ClinGen
ExAC
gnomAD
CA661754
rs773357079
COSM331167
711 P>T lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1201941334
CA338866438
712 A>T No ClinGen
gnomAD
rs989888717
CA18995448
712 A>V No ClinGen
Ensembl
rs748888738
CA661751
713 T>I No ClinGen
ExAC
gnomAD
CA338866420
rs1221615632
715 G>A No ClinGen
gnomAD
CA661750
rs768471031
715 G>R No ClinGen
ExAC
gnomAD
CA18995438
rs957040956
717 K>T No ClinGen
TOPMed
CA661748
rs779989905
718 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA338866394
rs1478893100
719 E>G No ClinGen
TOPMed
CA338866398
rs1174552890
719 E>K No ClinGen
TOPMed
CA661746
rs745389399
721 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA338866364
rs1403367510
723 M>I No ClinGen
gnomAD
CA338866367
rs1398157225
723 M>T No ClinGen
gnomAD
CA338866350
rs1427081452
725 V>A No ClinGen
TOPMed
CA338866343
rs1336586069
726 A>V No ClinGen
gnomAD
CA661744
rs149255241
729 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1371542914
CA338866322
730 D>G No ClinGen
gnomAD
CA338866314
rs1318236443
731 D>G No ClinGen
TOPMed
rs1424108281
CA338866317
731 D>H No ClinGen
TOPMed
gnomAD
CA338866318
rs1424108281
731 D>N No ClinGen
TOPMed
gnomAD
CA661741
rs566583367
732 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA661740
rs112270148
732 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661742
rs566583367
732 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338866307
rs1194711601
733 L>M No ClinGen
gnomAD
CA18995405
rs886260380
734 P>S No ClinGen
Ensembl
CA661737
VAR_055985
rs13375609
735 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA338866291
rs1383931789
736 V>M No ClinGen
gnomAD
rs1467247107
CA338866286
737 D>N No ClinGen
TOPMed
rs765357529
CA661736
738 Q>K No ClinGen
ExAC
CA338866252
rs1570447882
741 V>G No ClinGen
Ensembl
rs1403057752
CA338866242
743 A>T No ClinGen
gnomAD
CA338866239
rs1330215620
743 A>V No ClinGen
gnomAD
CA661734
COSM1667215
rs569249224
744 R>C breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs768818031
CA661733
744 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs768818031
CA338866236
744 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA661705
rs747794960
747 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA661704
rs549777277
748 L>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1283768573
CA338865524
749 E>V No ClinGen
gnomAD
CA338865518
rs1317338619
750 Q>* No ClinGen
gnomAD
CA338865519
rs1317338619
750 Q>E No ClinGen
gnomAD
rs1570444856
CA338865514
750 Q>R No ClinGen
Ensembl
rs146864100
CA338865479
751 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661703
rs146864100
751 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1348537861
CA338865476
751 Q>R No ClinGen
gnomAD
CA661701
rs531505555
752 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA661702
rs531505555
752 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338865430
rs1264815655
753 V>E No ClinGen
TOPMed
rs757638344
CA661700
753 V>M No ClinGen
ExAC
gnomAD
CA18994148
rs985786933
754 G>S No ClinGen
Ensembl
rs1195332776
CA338865407
754 G>V No ClinGen
gnomAD
CA661697
rs760925611
755 G>R No ClinGen
ExAC
gnomAD
CA338865381
rs1215486830
756 E>Q No ClinGen
gnomAD
CA338865354
rs1279275381
757 Q>* No ClinGen
gnomAD
rs1445692501
CA338865334
758 A>T No ClinGen
gnomAD
rs578074180
CA661694
759 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs578074180
CA661695
759 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA661696
rs549469387
759 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs386629315
CA18994131
759 K>T No ClinGen
Ensembl
CA18994124
rs972563859
760 N>D No ClinGen
Ensembl
rs1217578002
CA338865250
761 K>T No ClinGen
TOPMed
rs1220590811
CA338865213
762 D>E No ClinGen
gnomAD
CA661692
rs770910500
762 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs374049433
CA661689
769 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM903369
rs376783254
CA661690
769 R>W endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs186978787
CA661688
COSM173573
770 R>C large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
gnomAD
rs1050038782
CA18994107
770 R>H No ClinGen
TOPMed
gnomAD
rs768156873
CA661686
772 R>C No ClinGen
ExAC
gnomAD
CA661685
rs139870251
772 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373972661
CA661683
773 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779090340
CA661684
773 Y>D No ClinGen
ExAC
TOPMed
gnomAD
CA18994087
rs777878864
774 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs777878864
CA661681
774 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs200888075
CA338865005
775 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA661680
rs116367430
775 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA661678
rs767729742
776 E>K No ClinGen
ExAC
gnomAD
rs151177164
COSM1165671
CA661677
777 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA661676
rs148629128
777 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661675
rs766080010
778 R>G No ClinGen
ExAC
gnomAD
rs1254201254
CA338864927
780 Q>R No ClinGen
TOPMed
rs762986160
CA338864897
782 V>E No ClinGen
ExAC
gnomAD
rs762986160
CA661674
782 V>G No ClinGen
ExAC
gnomAD
rs999725624
CA18994057
783 A>S No ClinGen
Ensembl
rs773263008
CA661673
785 L>P No ClinGen
ExAC
gnomAD
rs768677101
CA18994048
786 Q>K No ClinGen
TOPMed
gnomAD
rs761442869
CA661671
786 Q>P No ClinGen
ExAC
gnomAD
rs761442869
CA338864850
786 Q>R No ClinGen
ExAC
gnomAD
CA338864829
rs1462044202
787 N>K No ClinGen
gnomAD
CA661670
COSM2156655
rs370565385
788 S>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA338864176
rs1406771753
789 D>V No ClinGen
gnomAD
CA338864144
rs1385526649
791 D>E No ClinGen
gnomAD
CA338864137
rs1184571027
792 S>N No ClinGen
gnomAD
rs116005658
CA661668
792 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs114242123
CA18994030
793 G>E No ClinGen
1000Genomes
CA661666
rs200844482
793 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA18994021
rs200472696
794 D>G No ClinGen
TOPMed
gnomAD
rs756546397
CA661663
794 D>N No ClinGen
ExAC
gnomAD
rs756546397
CA661664
794 D>Y No ClinGen
ExAC
gnomAD
rs1202644244
CA338864103
795 W>* No ClinGen
TOPMed
gnomAD
CA338864100
rs1202644244
795 W>C No ClinGen
TOPMed
gnomAD
rs781115691
CA661661
796 V>A No ClinGen
ExAC
gnomAD
rs748236046
CA661662
796 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1215346342
CA338864074
798 L>P No ClinGen
gnomAD
rs1317544011
CA338864067
799 N>D No ClinGen
gnomAD
CA338864046
rs1356655583
800 V>D No ClinGen
gnomAD
COSM425219
CA661659
rs139817126
800 V>I upper_aerodigestive_tract breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147429225
CA338864034
801 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661658
rs766248541
801 Y>C No ClinGen
ExAC
gnomAD
CA661656
rs150132550
COSM903367
802 D>N endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs150132550
CA338864029
802 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs558038200
CA661655
803 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA338864007
rs1570444347
804 I>F No ClinGen
Ensembl
rs1187755747
CA338863995
805 Q>* No ClinGen
TOPMed
CA661653
rs776340258
806 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs115257742
CA661651
807 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs115257742
CA661652
807 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661650
rs775026398
808 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA338863953
rs145153675
809 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145153675
CA661648
809 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs114545284
CA661649
809 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs770339243
CA661646
817 K>N No ClinGen
ExAC
gnomAD
CA338863842
rs1222026892
818 M>I No ClinGen
gnomAD
CA338863846
rs1421035466
818 M>T No ClinGen
gnomAD
CA338863836
rs1245860700
819 Q>K No ClinGen
TOPMed
rs748646545
CA661645
821 K>* No ClinGen
ExAC
gnomAD
CA661627
rs149211267
823 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770110174
CA661628
823 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1235197360
CA338862514
826 E>Q No ClinGen
gnomAD
CA661625
rs769169857
827 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs777029545
CA661626
827 V>L No ClinGen
ExAC
gnomAD
CA338862499
rs777029545
827 V>M No ClinGen
ExAC
gnomAD
CA18985799
rs1026200394
831 D>E No ClinGen
Ensembl
CA338862445
rs1557582957
831 D>G No ClinGen
Ensembl
rs772481150
CA661622
835 E>K No ClinGen
ExAC
gnomAD
rs1299243091
CA338862367
837 Q>L No ClinGen
TOPMed
rs993330925
CA18985780
838 L>V No ClinGen
Ensembl
rs1194177953
CA338862332
840 K>E No ClinGen
gnomAD
rs1327530958
CA338862303
842 D>G No ClinGen
TOPMed
CA661621
rs200369420
842 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA338862308
rs200369420
842 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA661620
rs778893284
845 A>S No ClinGen
ExAC
gnomAD
CA338862211
rs1376188528
846 T>N No ClinGen
gnomAD
CA338862225
rs1570433580
846 T>P No ClinGen
Ensembl
CA18985752
rs750824801
847 I>V No ClinGen
Ensembl
rs577775020
CA661618
848 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338862181
rs577775020
848 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757864428
CA338862154
849 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs757864428
CA661617
849 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1340945762
CA338862165
849 R>W No ClinGen
gnomAD
rs1557582847
CA338862115
851 E>K No ClinGen
Ensembl
CA661615
rs139517726
852 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661614
rs752207289
854 S>F No ClinGen
ExAC
gnomAD
CA661613
rs767006007
855 M>K No ClinGen
ExAC
gnomAD
rs1469710171
CA338862026
855 M>V No ClinGen
TOPMed
rs905924251
CA18985741
858 Q>R No ClinGen
Ensembl
CA18985724
rs1014637541
862 E>K No ClinGen
Ensembl
CA661611
rs113995871
862 E>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1570433476
CA338861866
864 V>G No ClinGen
Ensembl
CA661608
rs769060306
866 P>L No ClinGen
ExAC
gnomAD
CA661607
rs769060306
866 P>R No ClinGen
ExAC
gnomAD
CA661605
rs761234884
868 I>T No ClinGen
ExAC
gnomAD
rs141369367
CA661604
869 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772247964
COSM1338564
CA661603
869 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs141369367
CA338861841
869 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661602
rs148681058
870 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs868472952
CA18985699
871 D>N No ClinGen
Ensembl
CA661601
rs774743101
872 C>Y No ClinGen
ExAC
gnomAD
rs749049783
CA661599
873 N>H No ClinGen
ExAC
gnomAD
rs1374061088
CA338861776
878 E>V No ClinGen
TOPMed
rs1314896182
CA338861772
879 K>E No ClinGen
TOPMed
gnomAD
rs1314896182
CA338861773
879 K>Q No ClinGen
TOPMed
gnomAD
CA661597
rs199941525
882 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661596
rs34232864
882 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA661595
rs780726306
886 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs141985868
CA661593
COSM110103
888 E>K lung NS skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766027861
CA661592
889 D>G No ClinGen
ExAC
gnomAD
rs954319097
CA18985650
889 D>H No ClinGen
TOPMed
rs954319097
CA338861704
889 D>N No ClinGen
TOPMed
CA661590
rs754217663
891 G>S No ClinGen
ExAC
gnomAD
rs1195634212
CA338861684
892 F>L No ClinGen
TOPMed
CA338861659
rs1233422608
895 I>V No ClinGen
gnomAD
CA338861651
rs1180454286
896 P>S No ClinGen
gnomAD
CA661586
rs768090350
897 H>Y No ClinGen
ExAC
gnomAD
rs774513929
CA661583
899 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs144953741
CA661580
900 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661581
rs749520746
900 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA661579
rs769607660
902 K>Q No ClinGen
ExAC
gnomAD
rs747847448
CA661578
903 T>N No ClinGen
ExAC
gnomAD
CA338861609
rs1570433242
903 T>P No ClinGen
Ensembl
CA661577
rs781137040
904 S>R No ClinGen
ExAC
gnomAD
rs1348713519
CA338861600
904 S>T No ClinGen
gnomAD
rs1219476254
CA338861596
905 L>V No ClinGen
gnomAD
CA661576
rs756083234
907 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs779584544
CA661557
910 S>A No ClinGen
ExAC
gnomAD
rs1012342151
CA18984526
911 T>S No ClinGen
gnomAD
rs1243078145
CA338861322
912 G>A No ClinGen
TOPMed
gnomAD
CA338861318
rs1243078145
912 G>E No ClinGen
TOPMed
gnomAD
rs1476561096
CA338861330
912 G>R No ClinGen
gnomAD
rs1374243521
CA338861281
914 Q>H No ClinGen
Ensembl
CA338861231
rs1570431663
916 K>N No ClinGen
Ensembl
CA338860883
rs1265591759
917 P>L No ClinGen
gnomAD
CA338861220
rs1463908475
917 P>S No ClinGen
TOPMed
gnomAD
rs376988005
CA661555
919 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200150083
CA661554
919 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200150083
CA18984494
919 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338860857
rs1209001003
920 K>Q No ClinGen
TOPMed
rs1570431620
CA338860843
921 T>P No ClinGen
Ensembl
rs530985178
CA661553
922 S>C No ClinGen
1000Genomes
ExAC
rs184119745
CA18984487
922 S>T No ClinGen
1000Genomes
CA18984482
rs370376315
924 A>G No ClinGen
ESP
TOPMed
rs1354237292
CA338860810
924 A>T No ClinGen
TOPMed
CA338860785
rs1242421094
926 N>D No ClinGen
TOPMed
rs753167464
CA338860780
926 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs753167464
CA661552
926 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs755577581
CA661550
927 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA338860762
rs1384893072
928 E>K No ClinGen
TOPMed
gnomAD
rs766746687
CA661548
929 P>L No ClinGen
ExAC
gnomAD
rs1172021731
CA338860716
931 M>V No ClinGen
TOPMed
gnomAD
rs773948871
CA661520
932 E>G No ClinGen
ExAC
gnomAD
rs149655237
CA661521
932 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_023528
rs631357
CA661519
933 D>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA338860121
rs1406427087
934 D>N No ClinGen
gnomAD
CA661518
rs748758210
935 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA18981494
rs942654205
935 R>S No ClinGen
Ensembl
CA18981486
rs912829749
936 Y>F No ClinGen
gnomAD
rs1457770099
CA338860046
937 R>K No ClinGen
gnomAD
rs769503970
CA661515
937 R>S No ClinGen
ExAC
gnomAD
CA338860002
rs1330144121
939 M>R No ClinGen
gnomAD
CA661511
rs369950539
940 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661510
rs746331222
940 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs369950539
CA661512
940 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146340669
CA661508
942 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA661509
rs779099245
942 R>W No ClinGen
ExAC
gnomAD
CA18981376
rs918800612
943 S>C No ClinGen
TOPMed
gnomAD
CA338859883
rs1216441576
946 E>K No ClinGen
gnomAD
rs764308721
CA661506
947 N>D No ClinGen
ExAC
gnomAD
CA661504
rs769167703
948 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA661502
rs144236031
950 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1386500234
CA338859746
952 Y>F No ClinGen
gnomAD
CA338859716
rs1298712226
954 R>P No ClinGen
TOPMed
CA338859721
rs1298712226
954 R>Q No ClinGen
TOPMed
CA338859695
rs1417729108
955 S>F No ClinGen
gnomAD
CA18981331
rs934975745
957 R>Q No ClinGen
TOPMed
gnomAD
CA338859657
rs1570426137
957 R>W No ClinGen
Ensembl
CA661498
rs766378781
958 A>T No ClinGen
ExAC
gnomAD
CA338859579
rs1157001562
960 Q>H No ClinGen
TOPMed
gnomAD
rs1304131327
CA338859587
960 Q>R No ClinGen
TOPMed
rs749750923
CA661496
961 I>T No ClinGen
ExAC
gnomAD
CA338859574
rs1570426097
961 I>V No ClinGen
Ensembl
rs769629585
CA661495
964 T>I No ClinGen
ExAC
gnomAD
rs528089648
CA18981292
965 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA661493
rs371204342
966 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371204342
CA661492
966 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338859469
rs1266230699
970 L>F No ClinGen
TOPMed
gnomAD
rs138351244
CA661462
972 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs909983519
CA18980097
972 H>Y No ClinGen
Ensembl
rs758451928
CA661460
974 N>K No ClinGen
ExAC
gnomAD
rs779992520
CA661461
974 N>S No ClinGen
ExAC
gnomAD
CA661459
rs376184055
975 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1250707675
CA338859257
977 P>T No ClinGen
TOPMed
gnomAD
CA338859244
rs1570423673
978 G>R No ClinGen
Ensembl
rs150479537
CA661457
979 L>F No ClinGen
ESP
ExAC
gnomAD
CA661456
rs753326202
979 L>P No ClinGen
ExAC
gnomAD
CA18980079
rs982482345
981 C>* No ClinGen
TOPMed
gnomAD
CA338859193
rs1248691105
982 P>L No ClinGen
gnomAD
rs1248691105
CA338859197
982 P>Q No ClinGen
gnomAD
rs1026911845
CA18980073
986 N>T No ClinGen
TOPMed
CA661453
rs368653467
988 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA338859092
rs1289171004
992 T>P No ClinGen
TOPMed
gnomAD
CA338859070
rs1175259431
993 Q>P No ClinGen
TOPMed
CA338859049
rs1304705468
994 A>D No ClinGen
gnomAD
rs1035758826
CA18980063
994 A>T No ClinGen
TOPMed
CA338858990
rs1405795990
997 M>K No ClinGen
gnomAD
CA338858960
rs1389913702
999 Q>* No ClinGen
gnomAD
CA338858953
rs1189345846
999 Q>P No ClinGen
TOPMed
CA338858939
rs1161395137
1000 P>S No ClinGen
TOPMed
gnomAD
CA338858943
rs1161395137
1000 P>T No ClinGen
TOPMed
gnomAD
CA338858919
rs574381737
1001 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA338858924
rs574381737
1001 R>P No ClinGen
ExAC
TOPMed
gnomAD
COSM182818
CA661451
rs574381737
1001 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs771261049
CA661452
1001 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1570423458
CA338858900
1003 F>L No ClinGen
Ensembl
rs370246172
CA661450
1004 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM903327
rs770268573
CA661449
1004 R>H endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA338858861
rs1570423428
1005 L>P No ClinGen
Ensembl
CA18980046
rs763275738
1006 E>K No ClinGen
gnomAD
rs781316184
CA661447
1007 S>C No ClinGen
ExAC
gnomAD
CA661446
rs768825310
1008 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA661444
rs780045651
1009 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs758290008
CA661443
1010 I>V No ClinGen
ExAC
gnomAD
CA338858659
rs1227913401
1016 K>N No ClinGen
gnomAD
rs147784710
CA661442
1017 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377443985
CA661441
1017 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377443985
CA338858644
1017 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1321451203
CA338858556
1021 K>R No ClinGen
gnomAD
CA18980011
rs879085340
1022 S>T No ClinGen
Ensembl
rs1031897189
CA18980010
1023 N>S No ClinGen
TOPMed
rs199731544
CA18979992
1028 P>H No ClinGen
TOPMed
CA338858390
rs199731544
1028 P>R No ClinGen
TOPMed
CA338858397
rs1389352826
1028 P>S No ClinGen
gnomAD

No associated diseases with Q9P2E2

2 regional properties for Q9P2E2

Type Name Position InterPro Accession
domain Kinesin motor domain 3 - 343 IPR001752
conserved_site Kinesin motor domain, conserved site 234 - 245 IPR019821

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton
  • Cell projection, cilium
  • Cell projection, dendrite
  • Localizes to dendrites of pyramidal neurons (By similarity)
  • Does not localize to the axons or nuclei in cerebral cortex, hippocampus or olfactory bulb (By similarity)
  • Co-localizes with NR2B-containing vesicles along microtubules (By similarity)
PANTHER Family PTHR47969 CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED
PANTHER Subfamily PTHR47969:SF32 KINESIN-LIKE PROTEIN
PANTHER Protein Class cytoskeletal protein
microtubule binding motor protein
microtubule or microtubule-binding cytoskeletal protein
PANTHER Pathway Category No pathway information available

11 GO annotations of cellular component

Name Definition
axoneme The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.
ciliary basal body A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport.
cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite cytoplasm All of the contents of a dendrite, excluding the surrounding plasma membrane.
kinesin complex Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work.
microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
microtubule organizing center An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
periciliary membrane compartment A plasma membrane region adjacent to the base of eukaryotic cilia and flagella that is enriched in endocytosis-associated proteins and vesicles and that appears to regulate ciliary membrane homeostasis.
photoreceptor connecting cilium The portion of the photoreceptor cell cilium linking the photoreceptor inner and outer segments. It's considered to be equivalent to the ciliary transition zone.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
microtubule motor activity A motor activity that generates movement along a microtubule, driven by ATP hydrolysis.
plus-end-directed microtubule motor activity A motor activity that generates movement along a microtubule toward the plus end, driven by ATP hydrolysis.

5 GO annotations of biological process

Name Definition
anterograde dendritic transport of neurotransmitter receptor complex The directed movement of a neurotransmitter receptor complex along microtubules in nerve cell dendrites towards the postsynapse.
cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon.
microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
vesicle-mediated transport A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P33176 KIF5B Kinesin-1 heavy chain Homo sapiens (Human) EV
O60282 KIF5C Kinesin heavy chain isoform 5C Homo sapiens (Human) EV
Q12840 KIF5A Kinesin heavy chain isoform 5A Homo sapiens (Human) EV
Q2M1P5 KIF7 Kinesin-like protein KIF7 Homo sapiens (Human) EV
Q86VH2 KIF27 Kinesin-like protein KIF27 Homo sapiens (Human) SS
Q7Z4S6 KIF21A Kinesin-like protein KIF21A Homo sapiens (Human) EV
O75037 KIF21B Kinesin-like protein KIF21B Homo sapiens (Human) EV
O00139 KIF2A Kinesin-like protein KIF2A Homo sapiens (Human) PR
Q9NQT8 KIF13B Kinesin-like protein KIF13B Homo sapiens (Human) EV
Q9H1H9 KIF13A Kinesin-like protein KIF13A Homo sapiens (Human) SS
O43896 KIF1C Kinesin-like protein KIF1C Homo sapiens (Human) SS
Q99PW8 Kif17 Kinesin-like protein KIF17 Mus musculus (Mouse) SS
P46864 KIN14M Kinesin-like protein KIN-14M Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MASEAVKVVV RCRPMNQRER ELRCQPVVTV DCARAQCCIQ NPGAADEPPK QFTFDGAYHV
70 80 90 100 110 120
DHVTEQIYNE IAYPLVEGVT EGYNGTIFAY GQTGSGKSFT MQGLPDPPSQ RGIIPRAFEH
130 140 150 160 170 180
VFESVQCAEN TKFLVRASYL EIYNEDVRDL LGADTKQKLE LKEHPEKGVY VKGLSMHTVH
190 200 210 220 230 240
SVAQCEHIME TGWKNRSVGY TLMNKDSSRS HSIFTISIEM SAVDERGKDH LRAGKLNLVD
250 260 270 280 290 300
LAGSERQSKT GATGERLKEA TKINLSLSAL GNVISALVDG RCKHVPYRDS KLTRLLQDSL
310 320 330 340 350 360
GGNTKTLMVA CLSPADNNYD ETLSTLRYAN RAKNIRNKPR INEDPKDALL REYQEEIKKL
370 380 390 400 410 420
KAILTQQMSP SSLSALLSRQ VPPDPVQVEE KLLPQPVIQH DVEAEKQLIR EEYEERLARL
430 440 450 460 470 480
KADYKAEQES RARLEEDITA MRNSYDVRLS TLEENLRKET EAVLQVGVLY KAEVMSRAEF
490 500 510 520 530 540
ASSAEYPPAF QYETVVKPKV FSTTDTLPSD DVSKTQVSSR FAELPKVEPS KSEISLGSSE
550 560 570 580 590 600
SSSLEETSVS EAFPGPEEPS NVEVSMPTEE SRSRYFLDEC LGQEAAGHLL GEQNYLPQEE
610 620 630 640 650 660
PQEVPLQGLL GLQDPFAEVE AKLARLSSTV ARTDAPQADV PKVPVQVPAP TDLLEPSDAR
670 680 690 700 710 720
PEAEAADDFP PRPEVDLASE VALEVVRTAE PGVWLEAQAP VALVAQPEPL PATAGVKRES
730 740 750 760 770 780
VGMEVAVLTD DPLPVVDQQQ VLARLQLLEQ QVVGGEQAKN KDLKEKHKRR KRYADERRKQ
790 800 810 820 830 840
LVAALQNSDE DSGDWVLLNV YDSIQEEVRA KSKLLEKMQR KLRAAEVEIK DLQSEFQLEK
850 860 870 880 890 900
IDYLATIRRQ ERDSMLLQQL LEQVQPLIRR DCNYSNLEKI LRESCWDEDN GFWKIPHPVI
910 920 930 940 950 960
TKTSLPVAVS TGPQNKPARK TSAADNGEPN MEDDRYRLML SRSNSENIAS NYFRSKRASQ
970 980 990 1000 1010 1020
ILSTDARKSL THHNSPPGLS CPLSNNSAIP PTQAPEMPQP RPFRLESLDI PFTKAKRKKS
KSNFGSEPL