Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q6ZMT9

Entry ID Method Resolution Chain Position Source
AF-Q6ZMT9-F1 Predicted AlphaFoldDB

618 variants for Q6ZMT9

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001340506
rs758011674
RCV002546900
CA2885608
235 F>L Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA95771835
RCV001300559
RCV002541930
rs1006425300
358 D>V Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001234640
RCV002563245
rs773778842
CA2885645
383 P>S Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002554611
CA95771928
RCV001070894
rs746352706
386 L>W Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA2885648
RCV002553819
RCV001056909
rs750097471
401 S>Y Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002567911
RCV001237382
CA95784031
rs375987946
561 Q>E Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
TOPMed
dbSNP
gnomAD
CA2885720
RCV003166883
RCV001322806
rs371705837
615 G>R Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001074604
CA2885743
RCV001459081
rs144952478
704 R>S Retinal dystrophy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA356677390
rs1433993851
2 H>Q No ClinGen
TOPMed
CA356677388
rs1435895900
2 H>R No ClinGen
gnomAD
CA95763510
rs918419490
2 H>Y No ClinGen
TOPMed
gnomAD
rs1318959750
CA356677397
3 D>V No ClinGen
gnomAD
rs1269510622
CA356677410
5 C>G No ClinGen
TOPMed
rs931094405
CA95763515
6 T>I No ClinGen
TOPMed
gnomAD
rs931094405
CA356677419
6 T>N No ClinGen
TOPMed
gnomAD
CA95763523
rs896536189
9 Q>* No ClinGen
TOPMed
rs1225064311
CA356677439
9 Q>H No ClinGen
gnomAD
CA95763530
rs896536189
9 Q>K No ClinGen
TOPMed
CA356677444
rs1335180792
10 T>K No ClinGen
gnomAD
CA2885555
rs761331682
10 T>S No ClinGen
ExAC
gnomAD
rs1186648943
CA356677452
11 M>I No ClinGen
TOPMed
gnomAD
CA2885556
rs766535142
11 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1270880384
CA356677449
11 M>T No ClinGen
gnomAD
CA356677447
rs766535142
11 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1330678038
CA356677461
13 S>A No ClinGen
gnomAD
rs776819665
CA2885557
17 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1232018125
CA356677497
18 K>T No ClinGen
TOPMed
rs1190168085
CA356677515
21 D>Y No ClinGen
gnomAD
CA356677533
rs1305228235
23 A>G No ClinGen
TOPMed
rs187599064
CA95763546
24 A>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA95763552
rs942393577
25 R>K No ClinGen
TOPMed
CA356677546
rs16992035
VAR_046339
CA2885559
26 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
UniProt
dbSNP
rs1163130827
CA356677556
27 E>V No ClinGen
gnomAD
CA95763562
rs902097477
29 N>Y No ClinGen
TOPMed
CA95763568
rs933522655
30 V>G No ClinGen
TOPMed
CA2885560
rs752863583
31 I>L No ClinGen
ExAC
gnomAD
CA2885561
rs754011773
31 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1454445191
CA356677579
31 I>T No ClinGen
TOPMed
gnomAD
CA95763585
rs1042610989
33 T>I No ClinGen
TOPMed
gnomAD
CA2885562
rs767353519
33 T>S No ClinGen
ExAC
gnomAD
rs545878482
CA2885563
34 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs902664539
CA95763593
35 T>A No ClinGen
TOPMed
gnomAD
TCGA novel 37 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356677624
rs1291149455
39 T>K No ClinGen
TOPMed
gnomAD
TCGA novel 40 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1484471310
CA356677634
40 N>K No ClinGen
TOPMed
CA356677639
rs1282003092
41 G>A No ClinGen
TOPMed
CA356677637
rs1351954822
41 G>R No ClinGen
gnomAD
rs1297710872
CA356677651
43 E>A No ClinGen
TOPMed
CA356677650
rs748785345
43 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs748785345
CA2885566
43 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1347895911
CA356677666
45 H>N No ClinGen
gnomAD
CA2885567
rs754479458
45 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs754479458
CA356677667
45 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA95763617
rs1000726911
46 Y>H No ClinGen
TOPMed
gnomAD
CA95763647
rs796663653
47 T>P No ClinGen
Ensembl
rs1254334572
CA356677762
58 H>R No ClinGen
gnomAD
CA356677772
rs1429363909
59 M>I No ClinGen
TOPMed
CA356677767
rs1306339261
59 M>V No ClinGen
TOPMed
TCGA novel 61 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356677794
rs1181298328
62 A>G No ClinGen
gnomAD
CA356677795
rs1362183774
63 L>I No ClinGen
TOPMed
gnomAD
CA95763654
rs562970570
67 E>* No ClinGen
TOPMed
gnomAD
CA95763664
rs956537083
69 N>K No ClinGen
gnomAD
rs975899908
CA95763680
70 T>I No ClinGen
gnomAD
rs1032443046
CA95763694
71 S>L No ClinGen
TOPMed
rs1560782478
CA356677874
74 G>V No ClinGen
Ensembl
CA95763698
rs747817328
75 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs752476393
CA2885572
75 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs747817328
CA2885571
75 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1333552186
CA356677878
76 V>I No ClinGen
gnomAD
TCGA novel 77 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs192124414
CA95763706
78 G>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs1283049028
CA356677916
81 E>D No ClinGen
TOPMed
gnomAD
rs1277238800
CA356677915
81 E>V No ClinGen
gnomAD
CA95763722
rs970653490
82 S>L No ClinGen
TOPMed
gnomAD
CA95763729
rs1025922156
87 F>L No ClinGen
TOPMed
gnomAD
rs908859456
CA95763732
88 P>L No ClinGen
TOPMed
gnomAD
CA356678004
rs1394517583
93 N>K No ClinGen
TOPMed
gnomAD
TCGA novel 94 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1205348690
CA356678044
98 Q>H No ClinGen
TOPMed
gnomAD
rs1171662123
CA356678050
99 I>T No ClinGen
TOPMed
gnomAD
CA356678054
rs1390192198
100 E>Q No ClinGen
TOPMed
CA95763741
rs984331303
102 M>V No ClinGen
TOPMed
gnomAD
rs116402730
CA2885577
105 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1297308125
CA356678098
106 N>H No ClinGen
gnomAD
rs1038624277
CA356678103
106 N>K No ClinGen
TOPMed
gnomAD
CA356678122
rs1287255876
109 G>A No ClinGen
Ensembl
rs547413369
CA95763755
111 R>K No ClinGen
Ensembl
CA356678160
rs1442564997
114 T>I No ClinGen
gnomAD
CA356678161
rs1326030058
115 H>N No ClinGen
gnomAD
CA356678168
rs1369548958
115 H>Q No ClinGen
gnomAD
rs1449311713
CA356678176
117 I>V No ClinGen
TOPMed
CA95763757
rs930144559
120 T>K No ClinGen
TOPMed
rs184173479
CA2885578
121 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA356678213
rs1298332099
122 E>D No ClinGen
gnomAD
CA356678210
rs1336901301
122 E>G No ClinGen
TOPMed
CA2885579
rs765242624
123 T>I No ClinGen
ExAC
gnomAD
TCGA novel 125 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1227530252
CA356678249
127 E>D No ClinGen
TOPMed
rs1227171514
CA356678247
127 E>G No ClinGen
gnomAD
rs377740589
CA356678255
128 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377740589
CA2885580
128 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356678283
rs1214501429
132 P>L No ClinGen
gnomAD
rs1578430603
CA356678319
137 T>N No ClinGen
Ensembl
CA95763808
rs1031670278
138 T>A No ClinGen
Ensembl
rs896581316
CA95763814
138 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 139 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356678339
rs1443699061
141 I>V No ClinGen
TOPMed
CA356678349
rs1191747484
142 I>T No ClinGen
TOPMed
gnomAD
CA356678353
rs1421559253
143 C>R No ClinGen
gnomAD
CA95763835
rs1042634650
144 D>G No ClinGen
TOPMed
gnomAD
rs924160976
CA95763840
145 I>N No ClinGen
TOPMed
CA2885581
rs763224410
147 K>N No ClinGen
ExAC
gnomAD
CA95763850
rs868641702
150 I>T No ClinGen
gnomAD
CA356678410
rs1462708878
151 N>Y No ClinGen
gnomAD
rs1326138751
CA356678418
152 S>G No ClinGen
gnomAD
CA2885582
rs767273674
152 S>N No ClinGen
ExAC
gnomAD
rs1054325137
CA95763887
156 N>S No ClinGen
TOPMed
gnomAD
CA356678455
rs1476850200
157 D>E No ClinGen
TOPMed
CA356678453
rs1234177584
157 D>V No ClinGen
gnomAD
CA356678450
rs1337384038
157 D>Y No ClinGen
gnomAD
CA356678458
rs1272782694
158 S>A No ClinGen
gnomAD
rs1218051837
CA356678481
161 I>T No ClinGen
gnomAD
rs766301788
CA2885586
161 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA356678495
rs1193681989
163 H>P No ClinGen
TOPMed
CA356678507
rs1486170259
164 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA356678505
rs1469456443
164 K>R No ClinGen
TOPMed
rs1000778156
CA95763909
165 N>S No ClinGen
TOPMed
gnomAD
CA95763924
rs956587496
167 I>M No ClinGen
Ensembl
CA95763916
rs1030877579
167 I>V No ClinGen
TOPMed
TCGA novel 169 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs895240671
CA95763927
171 E>* No ClinGen
TOPMed
rs895240671
CA356678553
171 E>K No ClinGen
TOPMed
CA2885591
rs758173315
173 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA95767202
rs923621523
174 D>H No ClinGen
TOPMed
gnomAD
CA2885592
rs187188942
176 L>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1408132132
CA356678601
177 S>R No ClinGen
gnomAD
rs1995319
CA356678619
179 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_046340
CA2885594
rs1995319
179 V>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1995319
CA356678620
179 V>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2885593
rs200576831
179 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA356678630
rs1435807760
181 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1271869000
CA356678638
182 P>H No ClinGen
TOPMed
CA356678633
rs1339916414
182 P>T No ClinGen
TOPMed
rs1373972676
CA356678641
183 Q>* No ClinGen
gnomAD
TCGA novel 183 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs77539527
CA2885596
184 V>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781680006
CA2885595
184 V>L No ClinGen
ExAC
gnomAD
rs781680006
CA356678647
184 V>M No ClinGen
ExAC
gnomAD
CA356678662
rs1560786736
186 C>Y No ClinGen
Ensembl
rs1454762714
CA356678670
187 Y>C No ClinGen
TOPMed
rs1353036946
CA356678693
191 P>A No ClinGen
TOPMed
CA2885597
rs769909057
192 S>P No ClinGen
ExAC
gnomAD
CA356678704
rs1350001780
193 Y>H No ClinGen
TOPMed
gnomAD
rs889893449
CA95767260
194 V>A No ClinGen
Ensembl
CA2885598
rs775590360
194 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1279403722
CA356678715
195 L>I No ClinGen
gnomAD
rs1206265525
CA356678748
199 E>D No ClinGen
gnomAD
TCGA novel 200 C>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs530789646
CA95767273
200 C>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369825204
CA356678756
201 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA95767277
RCV001317806
rs781043052
201 R>Q No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs369825204
CA2885600
201 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs994537356
CA95767288
202 I>K No ClinGen
TOPMed
rs1253337546
CA356678761
202 I>L No ClinGen
gnomAD
CA95767290
rs1034908342
203 I>T No ClinGen
TOPMed
gnomAD
CA356678803
rs200560913
207 S>R No ClinGen
TOPMed
gnomAD
CA356678808
rs1173534348
208 S>Y No ClinGen
gnomAD
rs1393697366
CA356678829
211 V>A No ClinGen
gnomAD
CA95767318
rs774590229
212 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA2885601
rs774590229
212 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA356678836
RCV001056780
rs1329859259
213 D>Y No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA95767323
rs552426120
214 N>D No ClinGen
1000Genomes
TOPMed
gnomAD
CA2885602
rs377093636
217 L>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377093636
CA356678868
217 L>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440209090 218 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1371791043
CA356678885
219 S>R No ClinGen
gnomAD
rs570690508
CA95767363
220 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201684570
CA95767372
221 V>I No ClinGen
gnomAD
rs753801171
CA2885604
222 I>R No ClinGen
ExAC
TOPMed
gnomAD
CA356678902
rs753801171
222 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA356678922
rs1191668665
225 E>A No ClinGen
gnomAD
rs1436892020
CA356678930
226 C>F No ClinGen
TOPMed
gnomAD
rs1436892020
CA356678928
226 C>Y No ClinGen
TOPMed
gnomAD
rs764781084
CA2885606
227 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs1254386766
CA356678938
228 D>N No ClinGen
gnomAD
rs761582083
CA2885607
229 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA356678967
rs1405283199
231 K>N No ClinGen
TOPMed
rs534797041
CA356678983
234 P>S No ClinGen
1000Genomes
gnomAD
rs534797041
CA95767452
234 P>T No ClinGen
1000Genomes
gnomAD
CA2885609
rs777500108
237 I>T No ClinGen
ExAC
TOPMed
rs1560787116
CA356679016
239 I>T No ClinGen
Ensembl
CA356679034
rs1464309874
242 P>S No ClinGen
gnomAD
rs1167333045
CA356679054
245 A>S No ClinGen
gnomAD
rs1395400652
CA356679059
246 R>C No ClinGen
gnomAD
rs139675396
CA2885610
246 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV001294771
CA356679074
rs1323909494
248 R>I No ClinGen
ClinVar
dbSNP
gnomAD
CA356679081
rs1329280463
249 G>E No ClinGen
gnomAD
CA356679100
rs1560787195
252 R>G No ClinGen
Ensembl
TCGA novel 253 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1031127454
CA95767494
254 I>S No ClinGen
TOPMed
RCV001309751
CA2885612
rs757624730
255 M>T No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs781472337
CA2885613
258 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1274655498
RCV001232430
CA356679160
260 D>G No ClinGen
ClinVar
dbSNP
gnomAD
rs1334979739
CA356679187
264 Q>* No ClinGen
TOPMed
gnomAD
RCV001216330
rs879092621
CA95767523
268 L>P No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA95767510
rs746350889
268 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1346627184
CA356679232
271 N>H No ClinGen
TOPMed
rs1449263131
CA356679242
272 S>A No ClinGen
TOPMed
gnomAD
CA2885615
rs770256085
275 G>E No ClinGen
ExAC
gnomAD
rs149774893
CA2885616
277 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA356679276
rs1429010815
277 K>T No ClinGen
TOPMed
CA356679285
rs1560787332
278 G>E No ClinGen
Ensembl
rs1418867635
CA356679290
279 G>A No ClinGen
TOPMed
gnomAD
rs1190409837
CA356679286
279 G>S No ClinGen
gnomAD
COSM1177786
COSM1177787
rs1418867635
CA356679291
279 G>V endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA356679320
rs1417711056
282 G>R No ClinGen
gnomAD
CA356679324
rs1176561094
282 G>V No ClinGen
gnomAD
rs765224946
RCV001229119
CA2885624
283 T>N No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs765224946
CA356679328
283 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA356679338
rs1417476141
285 A>T No ClinGen
TOPMed
gnomAD
RCV001229120
CA95770526
rs898541301
287 V>L No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
TCGA novel 288 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1045636239
CA95770546
288 K>R No ClinGen
gnomAD
rs1578441043
CA356679366
289 V>A No ClinGen
Ensembl
CA95770571
rs376079497
293 G>C No ClinGen
TOPMed
gnomAD
CA356679392
rs376079497
293 G>R No ClinGen
TOPMed
gnomAD
CA95770576
rs907090390
294 I>F No ClinGen
Ensembl
rs1438592173
CA356679406
295 F>S No ClinGen
TOPMed
rs1275429559
CA356679416
297 V>I No ClinGen
TOPMed
TCGA novel 298 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 302 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA95770578
rs1028741383
305 S>L No ClinGen
TOPMed
rs1278377276
CA356679491
307 T>I No ClinGen
gnomAD
CA356679508
rs1273907656
310 K>R No ClinGen
TOPMed
RCV001307098
CA2885626
rs754906230
311 K>E No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001213013
CA356679522
rs1056021890
312 G>A No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA356679523
rs1056021890
312 G>D No ClinGen
TOPMed
gnomAD
CA95770607
RCV001296743
rs1056021890
312 G>V No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1281549097
CA356679526
313 L>F No ClinGen
gnomAD
CA356679530
RCV001297843
rs1199013078
314 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA95770617
rs182788481
316 K>N No ClinGen
1000Genomes
CA356679559
rs1181185650
318 S>T No ClinGen
gnomAD
CA95770633
rs372924892
319 M>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372924892
CA2885629
319 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2885628
rs372924892
319 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1437773676
CA356679571
320 D>N No ClinGen
gnomAD
COSM1429500
COSM1429499
rs970203447
CA95770650
322 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA95770658
rs979831227
322 R>Q No ClinGen
TOPMed
gnomAD
CA356679590
rs1176383285
323 I>T No ClinGen
TOPMed
CA2885630
RCV001213529
rs542623785
324 S>C No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA356679596
rs542623785
324 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1196956846
CA356679602
325 L>* No ClinGen
TOPMed
rs1300802979
CA356679607
326 N>H No ClinGen
gnomAD
CA2885631
rs560693384
328 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA2885632
rs756535211
329 P>L No ClinGen
ExAC
gnomAD
CA2885633
rs780475018
331 V>F No ClinGen
ExAC
gnomAD
rs1304808677
CA356679650
333 T>P No ClinGen
TOPMed
gnomAD
CA356679682
rs1215696085
338 V>E No ClinGen
TOPMed
rs928276724
CA95770719
340 L>I No ClinGen
TOPMed
rs1190199905
CA356679730
343 Q>R No ClinGen
gnomAD
rs1172272567
CA356679742
345 V>L No ClinGen
TOPMed
CA2885640
RCV001240707
rs745581607
346 D>E No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs563179017
CA2885639
RCV001319720
346 D>G No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs866210741
CA95771709
346 D>N No ClinGen
Ensembl
rs1256384712
CA356679752
347 P>S No ClinGen
gnomAD
rs1256384712
CA356679753
347 P>T No ClinGen
gnomAD
rs1417141248
CA356679771
350 V>E No ClinGen
TOPMed
rs1473632537
CA356679786
352 H>Q No ClinGen
TOPMed
rs1214400915
CA356679780
352 H>Y No ClinGen
gnomAD
rs769724268
CA356679793
353 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA2885642
rs775552771
356 Q>R No ClinGen
ExAC
gnomAD
rs1428896067
CA356679842
360 F>S No ClinGen
TOPMed
gnomAD
CA356679850
rs1211959107
361 Y>S No ClinGen
TOPMed
CA356679856
rs1192564295
362 S>L No ClinGen
gnomAD
CA95771871
rs199975273
365 S>Y No ClinGen
TOPMed
gnomAD
rs1462635084
CA356679885
367 S>G No ClinGen
gnomAD
CA95771913
rs866698643
368 P>S No ClinGen
TOPMed
gnomAD
CA95771910
rs866698643
368 P>T No ClinGen
TOPMed
gnomAD
CA356679902
rs1353322798
370 I>V No ClinGen
gnomAD
rs1456885585
CA356679925
373 Q>* No ClinGen
gnomAD
CA356679927
rs1291112440
373 Q>R No ClinGen
gnomAD
rs1363164441
CA356679935
374 H>R No ClinGen
gnomAD
TCGA novel
rs1756301984
RCV001202758
375 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinVar
NCI-TCGA
dbSNP
rs1027656421
CA95771917
376 S>* No ClinGen
TOPMed
CA2885644
rs776034617
376 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1312897755
CA356679963
379 P>S No ClinGen
TOPMed
gnomAD
CA95771921
rs958801424
382 K>T No ClinGen
Ensembl
rs912711755
CA95771950
393 Y>H No ClinGen
TOPMed
rs1407022059
CA356680076
395 D>E No ClinGen
TOPMed
CA356680069
rs1354281497
395 D>N No ClinGen
gnomAD
rs533626351
CA2885646
398 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1319967224
CA356680101
399 L>F No ClinGen
TOPMed
gnomAD
rs767042064
CA2885647
400 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA356680107
rs1219372004
400 G>R No ClinGen
gnomAD
RCV001065188
rs767042064
CA95771973
400 G>V No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs756413588
CA2885649
403 I>K No ClinGen
ExAC
TOPMed
gnomAD
rs756413588
CA95772004
403 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1215637414
CA356680124
403 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 404 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356680133
rs1475997164
404 D>E No ClinGen
gnomAD
CA95772014
rs1013364174
404 D>N No ClinGen
Ensembl
TCGA novel 405 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1445837636
CA356680151
407 R>G No ClinGen
TOPMed
CA2885651
rs754339190
408 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA356680171
rs1421528220
410 S>G No ClinGen
gnomAD
rs1160579316
CA356680175
410 S>N No ClinGen
gnomAD
rs755519744
CA2885652
412 T>A No ClinGen
ExAC
gnomAD
rs1419583501
CA356680187
412 T>R No ClinGen
gnomAD
CA356680191
rs1296473892
413 I>V No ClinGen
Ensembl
CA2885653
rs779417332
414 N>S No ClinGen
ExAC
gnomAD
CA95772066
rs1043055500
416 I>V No ClinGen
TOPMed
rs748136362
CA2885654
417 T>A No ClinGen
ExAC
gnomAD
CA2885655
rs758507951
417 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA356680218
rs758507951
417 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs977339400
CA356680221
418 P>S No ClinGen
TOPMed
gnomAD
rs977339400
CA95772091
418 P>T No ClinGen
TOPMed
gnomAD
rs1225555418
CA356680230
419 S>L No ClinGen
TOPMed
gnomAD
rs1343413930
CA356680226
419 S>P No ClinGen
TOPMed
CA95772126
rs776388146
420 Y>F No ClinGen
Ensembl
CA356680245
rs1578442777
421 F>L No ClinGen
Ensembl
rs769705093
CA2885658
423 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs189410090
RCV001047972
CA2885657
423 R>W No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs887026078
CA95782121
424 T>K No ClinGen
TOPMed
rs551082542
CA2885664
427 A>G No ClinGen
1000Genomes
ExAC
gnomAD
CA356680291
rs1410965995
427 A>S No ClinGen
TOPMed
rs551082542
CA356680293
427 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA356680300
rs1186343583
429 I>L No ClinGen
gnomAD
rs1349892591
CA356680322
432 P>T No ClinGen
gnomAD
CA356680356
rs1310097041
436 A>V No ClinGen
gnomAD
rs1384198493
CA356680357
437 S>R No ClinGen
TOPMed
rs1238295638
CA356680389
441 K>E No ClinGen
gnomAD
CA356680401
rs1578456374
442 L>F No ClinGen
Ensembl
CA2885667
rs766699282
442 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA356680406
rs1446086665
443 L>P No ClinGen
TOPMed
CA356680429
rs1177375775
447 S>G No ClinGen
gnomAD
CA356680441
rs1255462068
448 Q>R No ClinGen
TOPMed
gnomAD
CA356680445
rs1203275001
449 D>H No ClinGen
TOPMed
CA95782173
rs898297472
450 S>G No ClinGen
TOPMed
gnomAD
CA95782182
rs968579799
452 W>C No ClinGen
gnomAD
rs1578456441
CA356680474
453 C>R No ClinGen
Ensembl
CA356680509
rs1399733849
458 V>I No ClinGen
gnomAD
rs1444640290
CA356680519
459 V>A No ClinGen
gnomAD
CA356680538
rs890830046
462 I>K No ClinGen
TOPMed
gnomAD
CA95782214
rs890830046
462 I>T No ClinGen
TOPMed
gnomAD
rs1432391235
CA356680542
463 Q>E No ClinGen
TOPMed
gnomAD
RCV001059412
rs188954144
CA356680555
464 S>R No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA356680559
rs758028678
465 G>A No ClinGen
TOPMed
gnomAD
TCGA novel 465 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA95782232
RCV001058271
rs758028678
465 G>D No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA2885671
rs373949236
465 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758028678
CA95782234
465 G>V No ClinGen
TOPMed
gnomAD
CA356680571
rs1365182232
467 V>A No ClinGen
gnomAD
rs1365182232
CA356680570
467 V>G No ClinGen
gnomAD
CA356680568
CA95782244
rs1019232421
467 V>L No ClinGen
TOPMed
gnomAD
CA95782258
rs765596905
468 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA2885672
rs765596905
468 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA356680589
rs1316849434
470 E>D No ClinGen
gnomAD
CA2885674
rs777323018
477 R>K No ClinGen
ExAC
gnomAD
CA356680638
rs777323018
477 R>T No ClinGen
ExAC
gnomAD
CA356680668
rs1356400971
479 I>M No ClinGen
gnomAD
rs1294652107
CA356680663
479 I>V No ClinGen
TOPMed
gnomAD
rs1209838308
CA356680671
480 V>I No ClinGen
TOPMed
gnomAD
rs1209838308
CA356680669
480 V>L No ClinGen
TOPMed
gnomAD
rs781583416
CA2885679
RCV001061691
481 L>P No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs749054756
CA2885680
482 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA95783840
rs376898600
483 L>I No ClinGen
ESP
TOPMed
rs536272239
CA95783842
485 S>F No ClinGen
1000Genomes
rs115555517
CA2885682
487 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA95783849
rs140254738
487 M>V No ClinGen
1000Genomes
CA95783882
rs1048544394
493 V>A No ClinGen
TOPMed
gnomAD
CA2885683
rs748178118
493 V>I No ClinGen
ExAC
gnomAD
rs1161472061
CA356680769
495 F>S No ClinGen
TOPMed
gnomAD
rs771480211
CA2885684
498 S>P No ClinGen
ExAC
gnomAD
rs1421402461
CA356680789
498 S>Y No ClinGen
gnomAD
CA356680800
rs1298607998
500 E>Q No ClinGen
gnomAD
CA356680809
rs1359642035
501 E>* No ClinGen
TOPMed
gnomAD
rs563835721
CA95783894
501 E>G No ClinGen
Ensembl
rs1397796968
CA356680815
502 A>P No ClinGen
gnomAD
CA95783918
COSM1727988
rs911353379
COSM1727989
508 A>V liver [Cosmic] No ClinGen
cosmic curated
TOPMed
rs942783392
CA95783920
509 C>* No ClinGen
TOPMed
rs1042448705
CA95783919
509 C>R No ClinGen
Ensembl
rs1340614999
CA356680872
510 I>M No ClinGen
gnomAD
rs1041114036
CA95783922
512 L>Q No ClinGen
TOPMed
gnomAD
CA356680906
rs1560800008
516 K>E No ClinGen
Ensembl
CA356680919
rs187161267
517 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1382153900
CA356680913
517 D>N No ClinGen
TOPMed
rs770529433
CA2885687
518 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs770529433
CA356680925
518 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA356680933
rs1167757549
519 P>L No ClinGen
TOPMed
rs1285802256
CA356680956
523 A>P No ClinGen
gnomAD
rs200787538
CA2885688
523 A>V No ClinGen
ExAC
TOPMed
gnomAD
RCV001226165
CA356680962
rs1213359729
524 V>L No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs759836208
CA2885689
525 L>I No ClinGen
ExAC
gnomAD
CA356680980
RCV001207443
CA356680981
rs1185556863
RCV001035336
527 V>L No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1053903285
RCV001246840
CA95783939
528 P>A No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA356681010
rs1379530079
531 D>E No ClinGen
gnomAD
CA95783941
rs868814877
531 D>N No ClinGen
Ensembl
rs1188093232
CA356681028
534 Q>* No ClinGen
TOPMed
rs1444118443
CA356681037
535 V>E No ClinGen
TOPMed
CA356681059
rs1248140317
538 D>V No ClinGen
TOPMed
rs1483490324
CA356681066
539 L>R No ClinGen
TOPMed
rs1276977603
CA356681067
540 H>N No ClinGen
TOPMed
rs201839505
CA95783950
543 G>A No ClinGen
ESP
ExAC
gnomAD
rs201839505
CA356681093
543 G>E No ClinGen
ESP
ExAC
gnomAD
CA2885693
rs201839505
543 G>V No ClinGen
ESP
ExAC
gnomAD
rs775716091
CA95783958
544 F>S No ClinGen
TOPMed
gnomAD
rs1355649495
CA356681107
546 G>R No ClinGen
TOPMed
CA95783972
rs900726166
RCV001326279
547 P>L No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA356681113
rs1352070477
547 P>T No ClinGen
gnomAD
CA2885694
rs374066496
548 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA95783992
rs1028369845
549 E>K No ClinGen
gnomAD
rs1034205141
CA95783994
550 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 550 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs955067649
CA95783999
551 S>C No ClinGen
gnomAD
rs1252806260
CA356681136
551 S>P No ClinGen
gnomAD
CA2885695
rs12507599
VAR_046341
552 R>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs369210518
CA2885696
552 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA95784014
rs961141007
555 Q>H No ClinGen
gnomAD
COSM1055020
COSM1055022
rs750691784
CA2885697
557 R>* endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs61739432
CA2885698
557 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA356681184
rs1465269926
559 G>R No ClinGen
gnomAD
rs971700996
CA95784025
560 E>* No ClinGen
TOPMed
CA356681193
rs1560800339
560 E>G No ClinGen
Ensembl
rs971700996
CA356681191
560 E>K No ClinGen
TOPMed
CA356681198
rs375987946
561 Q>* No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
CA356681207
rs778835630
562 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA2885699
rs778835630
562 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs748005265
CA356681212
563 L>P No ClinGen
ExAC
gnomAD
CA2885700
rs748005265
563 L>R No ClinGen
ExAC
gnomAD
CA95784032
rs952996813
563 L>V No ClinGen
TOPMed
CA356681271
rs1578459835
572 A>S No ClinGen
Ensembl
RCV001227259
CA2885709
rs536385570
575 N>D No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs555041609
CA356681307
575 N>K No ClinGen
1000Genomes
TOPMed
gnomAD
rs1560805953
CA356681305
575 N>S No ClinGen
Ensembl
rs1385467389
RCV001316875
CA356681309
576 G>R No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA356681314
rs1578470919
576 G>V No ClinGen
Ensembl
CA95790214
rs865988968
578 D>G No ClinGen
Ensembl
rs866593789
CA95790228
579 Y>S No ClinGen
Ensembl
CA356681344
rs1341397305
581 K>E No ClinGen
gnomAD
CA356681352
rs1560806010
582 D>A No ClinGen
Ensembl
rs376420804
CA95790236
582 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2885710
RCV001340619
rs376420804
582 D>N No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA356681351
rs376420804
582 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775006590
CA2885711
583 Y>C No ClinGen
ExAC
CA356681357
rs1156490700
583 Y>N No ClinGen
gnomAD
rs563515929
CA95790240
584 T>I No ClinGen
Ensembl
rs752773624
CA95790250
585 L>F No ClinGen
TOPMed
gnomAD
rs752773624
CA356681370
585 L>I No ClinGen
TOPMed
gnomAD
CA356681379
rs1223750814
586 I>T No ClinGen
gnomAD
CA356681392
rs1265971709
588 H>R No ClinGen
gnomAD
CA2885712
rs761928746
589 L>S No ClinGen
ExAC
gnomAD
rs761928746
CA356681400
589 L>W No ClinGen
ExAC
gnomAD
rs1207871495
CA356681426
RCV001224080
593 P>T No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA2885713
rs537399211
594 R>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1229629493
CA356681462
598 Q>R No ClinGen
TOPMed
rs374001739
CA95790256
599 I>S No ClinGen
ESP
TOPMed
rs558904224
CA95790258
600 K>E No ClinGen
1000Genomes
TOPMed
gnomAD
CA356681488
rs1420932466
602 V>M No ClinGen
TOPMed
gnomAD
rs1560806151
CA356681505
604 E>D No ClinGen
Ensembl
CA95790296
rs1040447767
604 E>Q No ClinGen
Ensembl
rs60640167
CA2885716
608 Y>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs929467367
CA95790303
609 S>I No ClinGen
gnomAD
CA356681544
rs1578471100
610 C>R No ClinGen
Ensembl
rs1361535637
CA356681546
610 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA356681553
rs1167679211
611 P>S No ClinGen
TOPMed
CA356681561
rs1296566824
612 H>R No ClinGen
gnomAD
CA356681568
rs1228964739
613 Y>C No ClinGen
gnomAD
rs368573712
CA2885718
613 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1312038858
CA356681574
614 K>E No ClinGen
gnomAD
CA2885719
rs371705837
615 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA95790313
rs1013119178
615 G>D No ClinGen
TOPMed
gnomAD
rs1013119178
CA356681582
615 G>V No ClinGen
TOPMed
gnomAD
TCGA novel 616 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1287950284
CA356681594
617 I>N No ClinGen
gnomAD
CA2885721
rs756754406
618 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA356681601
rs1482331685
619 V>I No ClinGen
TOPMed
CA356681616
rs1215523979
621 K>E No ClinGen
gnomAD
CA95790334
rs904842690
622 V>A No ClinGen
TOPMed
gnomAD
rs1240020133
CA356681632
623 P>R No ClinGen
gnomAD
rs1484278911
CA356681635
624 K>E No ClinGen
TOPMed
CA356681642
rs1483991186
625 G>R No ClinGen
gnomAD
CA356681667
rs1181971271
628 V>A No ClinGen
gnomAD
rs1181971271
CA356681666
628 V>D No ClinGen
gnomAD
CA95790339
rs867582414
629 P>L No ClinGen
TOPMed
rs1254808755
CA356681678
630 N>S No ClinGen
gnomAD
rs899302567
CA95790348
632 N>S No ClinGen
Ensembl
CA95790357
rs1003643045
634 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1234622329
CA356681717
636 V>A No ClinGen
TOPMed
CA2885723
RCV001063885
rs542659542
636 V>I No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2885722
rs542659542
RCV001212365
636 V>L No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA356681723
rs1348534305
637 I>T No ClinGen
TOPMed
rs956671927
CA95790362
640 N>S No ClinGen
Ensembl
CA356681753
rs1410208985
641 H>R No ClinGen
TOPMed
CA95790380
rs879151758
643 Q>L No ClinGen
Ensembl
rs1355998435
CA356681784
646 I>V No ClinGen
TOPMed
rs769437545
CA2885724
RCV001227810
647 C>F No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1167162821
CA356681843
654 P>Q No ClinGen
TOPMed
CA356681842
rs1311358539
654 P>S No ClinGen
TOPMed
gnomAD
rs967915159
CA95790402
655 K>N No ClinGen
Ensembl
CA95790399
rs1006121164
655 K>R No ClinGen
TOPMed
CA356681866
rs1272884990
656 H>Y No ClinGen
TOPMed
gnomAD
CA356681877
rs1377596348
657 K>M No ClinGen
gnomAD
CA95809776
rs577534478
660 I>S No ClinGen
1000Genomes
rs1277608336
CA356681903
661 N>D No ClinGen
gnomAD
CA356681907
rs1369458933
661 N>K No ClinGen
gnomAD
CA356681911
rs1219504130
662 R>C No ClinGen
TOPMed
gnomAD
CA2885730
rs9654132
VAR_046342
662 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs56412718
CA2885731
663 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA356681926
rs1320891316
664 Q>H No ClinGen
gnomAD
rs1000681587
CA356681931
665 S>I No ClinGen
TOPMed
gnomAD
RCV001301727
CA95809823
rs1000681587
665 S>N No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1258085323
CA356681935
666 T>A No ClinGen
TOPMed
gnomAD
CA356681936
rs1258085323
666 T>S No ClinGen
TOPMed
gnomAD
CA95809832
rs1027474626
667 K>E No ClinGen
Ensembl
TCGA novel 667 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA95809839
rs951936481
668 R>K No ClinGen
Ensembl
CA356681949
rs951936481
668 R>T No ClinGen
Ensembl
CA356681981
rs1578498650
673 P>T No ClinGen
Ensembl
CA2885733
rs760693725
674 V>A No ClinGen
ExAC
gnomAD
rs1578498654
CA356681987
674 V>I No ClinGen
Ensembl
CA2885739
rs149895631
678 W>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2885740
rs781126662
RCV001343644
680 N>S No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs932024510
CA95814193
683 H>R No ClinGen
gnomAD
rs745341400
CA2885741
686 A>S No ClinGen
ExAC
gnomAD
CA356682086
rs1165007847
687 E>Q No ClinGen
gnomAD
rs1405829681
CA356682101
689 L>I No ClinGen
gnomAD
rs1322703649
CA356682112
690 S>L No ClinGen
gnomAD
rs1578504385
CA356682135
693 N>K No ClinGen
Ensembl
RCV001206929
CA2885742
rs554146987
694 A>T No ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
CA356682141
rs1362467456
694 A>V No ClinGen
TOPMed
CA356682142
rs1401533745
695 E>K No ClinGen
gnomAD
rs1438760215
CA356682152
696 S>A No ClinGen
TOPMed
rs1298420227
CA356682154
696 S>C No ClinGen
gnomAD
CA356682172
rs1224621928
699 S>L No ClinGen
gnomAD
rs890573511
CA95814234
699 S>T No ClinGen
Ensembl
rs961842636
CA95814239
700 T>A No ClinGen
TOPMed
CA356682177
rs1285413893
700 T>S No ClinGen
gnomAD
rs971824954
CA95814241
702 P>S No ClinGen
TOPMed
CA2885744
rs144952478
704 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1228231249
RCV001229430
CA356682195
704 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
NCI-TCGA
dbSNP
gnomAD
rs376760844
CA2885746
705 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2885745
rs376760844
705 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV001319289
CA95814255
rs531713656
705 R>H No ClinGen
ClinVar
1000Genomes
dbSNP
gnomAD
rs376760844
CA356682198
705 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA356682206
rs1312363383
706 S>N No ClinGen
gnomAD
RCV001237482
rs930334304
CA95814257
707 T>S No ClinGen
ClinVar
TOPMed
dbSNP
rs1262747941
CA356682220
708 I>M No ClinGen
gnomAD
CA356682219
rs1217728031
708 I>T No ClinGen
gnomAD
CA356682215
rs1354706272
708 I>V No ClinGen
TOPMed
CA2885748
rs369707707
709 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1189733909
CA356682241
712 K>E No ClinGen
TOPMed
gnomAD
TCGA novel 712 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356682265
rs1406567270
715 N>D No ClinGen
TOPMed
CA95814268
rs1027028687
715 N>S No ClinGen
TOPMed
gnomAD
rs773408776
CA95814278
716 P>T No ClinGen
Ensembl
CA356682281
rs1238099417
717 D>E No ClinGen
gnomAD
rs543928536
CA2885749
718 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1420626069
CA356682293
719 L>P No ClinGen
TOPMed
rs565316336
CA2885750
RCV001049630
723 I>F No ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
CA356682320
rs1383212360
723 I>N No ClinGen
gnomAD
CA356682326
rs1578504612
724 H>Y No ClinGen
Ensembl
CA95814306
rs990926125
725 E>K No ClinGen
TOPMed
CA356682358
rs1376616127
728 C>Y No ClinGen
TOPMed
rs1421304899
CA356682362
729 F>L No ClinGen
gnomAD
rs372527757
CA2885751
730 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2885752
rs770971496
730 W>S No ClinGen
ExAC
gnomAD
CA356682391
rs1041254036
732 K>N No ClinGen
TOPMed
gnomAD
rs1335679249
CA356682387
732 K>T No ClinGen
TOPMed
gnomAD
rs1313568784
CA356682395
733 S>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1448029725
CA356682394
733 S>T No ClinGen
TOPMed
gnomAD
CA356682411
rs1241366338
736 T>A No ClinGen
gnomAD
RCV001345302
CA356682415
rs1288449967
736 T>I No ClinGen
ClinVar
TOPMed
dbSNP
CA95814332
rs901369058
738 T>N No ClinGen
TOPMed
rs1285695169
CA356682424
738 T>S No ClinGen
TOPMed
gnomAD
CA356682430
rs1235443089
739 D>H No ClinGen
TOPMed
CA356682429
rs1235443089
739 D>N No ClinGen
TOPMed
CA356682438
rs1202359462
740 K>E No ClinGen
TOPMed
gnomAD
rs1279501831
CA356682441
740 K>R No ClinGen
TOPMed
gnomAD
CA356682453
rs1441901710
742 R>C No ClinGen
gnomAD
rs1181772255
CA356682454
742 R>H No ClinGen
gnomAD
rs1430047323
CA356682461
743 L>P No ClinGen
gnomAD
CA356682467
rs1193581957
744 L>P No ClinGen
gnomAD
CA356682468
rs1441428754
745 A>T No ClinGen
TOPMed
gnomAD
rs1342830438
CA356682475
746 R>* No ClinGen
TOPMed
CA356682478
rs1179052199
746 R>L No ClinGen
TOPMed
gnomAD
CA356682476
rs1179052199
746 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA95814351
rs977890073
747 H>Y No ClinGen
TOPMed
gnomAD
rs181892217
COSM255838
COSM255839
CA2885755
749 R>C Variant assessed as Somatic; 5.938e-05 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2885756
COSM3365612
rs186265781
COSM3365611
749 R>H kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 749 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs181892217
CA2885754
749 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs989420464
CA95814370
750 K>R No ClinGen
gnomAD
rs761624657
CA2885758
754 S>G No ClinGen
ExAC
gnomAD
rs1001336589
CA95814392
754 S>R No ClinGen
gnomAD
rs1578504827
CA356682532
755 D>G No ClinGen
Ensembl
rs1169809027
CA356682528
755 D>N No ClinGen
TOPMed
rs921876192
CA95814394
756 L>P No ClinGen
Ensembl
CA95814395
rs1000646038
757 A>P No ClinGen
TOPMed
gnomAD
CA356682542
rs1000646038
757 A>S No ClinGen
TOPMed
gnomAD
RCV001305511
rs767373613
CA2885759
759 E>Q No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA356682564
rs1400389184
760 L>R No ClinGen
gnomAD
CA2885761
rs752511379
765 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA2885762
rs779500614
766 N>K No ClinGen
ExAC
CA356682614
RCV001297460
rs1024204311
767 K>E No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA95814467
rs1024204311
767 K>Q No ClinGen
TOPMed
gnomAD
CA356682624
rs1344500221
768 V>E No ClinGen
gnomAD
CA2885763
rs753501702
769 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2885765
rs778730054
770 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs529961646
CA2885766
771 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA356682656
rs1417070852
773 Q>R No ClinGen
gnomAD
CA356682673
rs1200664167
775 C>* No ClinGen
gnomAD
rs986250718
CA95814482
775 C>F No ClinGen
TOPMed
CA356682688
rs1347940083
777 D>V No ClinGen
gnomAD
CA95814508
rs548088407
778 V>I No ClinGen
1000Genomes
CA2885767
RCV001314494
rs772571231
779 A>D No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA95814530
rs752781889
781 E>D No ClinGen
gnomAD

No associated diseases with Q6ZMT9

3 regional properties for Q6ZMT9

Type Name Position InterPro Accession
domain Death domain 682 - 763 IPR000488
domain ZU5 domain 167 - 301 IPR000906-1
domain ZU5 domain 302 - 483 IPR000906-2

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MHDECTPQQT MSSIQDTKAA DIAARGELNV IETATVSPTN GEESHYTNQV QLEKNKTHMS
70 80 90 100 110 120
SALVEKENNT SLNGRVLGQE ESQNKMFPDN AENEDDKQIE HMTVENINGN REETHGIIQT
130 140 150 160 170 180
TETEIQETSE SPREEMTTSS IICDISKKYI NSTLPNDSEN IKHKNNIMEK EYLDVLSDVT
190 200 210 220 230 240
GPQVSCYITA PSYVLQQLEC RIINHMSSLI VGDNEELVSN VITIECSDKE KRVPFPIGIA
250 260 270 280 290 300
IPFTARYRGN YRDIMVKVCD INLQSSYLNP NSLEGMKGGY KGTCASVKVY KLGIFSVVSC
310 320 330 340 350 360
LKKESFTVTK KGLALKSSMD SRISLNYPPG VFTSPVLVQL KIQPVDPALV AHLKAQQDTF
370 380 390 400 410 420
YSVQSTSPLI HIQHPSTYPF QKPVTLFLPC SPYLDKNNLG SEIDHKRRAS ATINRITPSY
430 440 450 460 470 480
FNRTKIASIR KPRKNASECL KLLGFRSQDS GWCGLDDVVK TIQSGLVSVE LYEHLERFIV
490 500 510 520 530 540
LHLSSTMDNS HLVTFVKSLE EAMLSTTACI VLSHQKDNPH RIAVLVVPSK DLSQVLKDLH
550 560 570 580 590 600
LEGFGGPPEP SRHFQVREGE QLLLRFTGNI FASSNGKDYG KDYTLIFHLQ RKPRLELQIK
610 620 630 640 650 660
EVDEFGNYSC PHYKGTIVVY KVPKGKIVPN LNQSLVINEN HSQLPICKLP LKLPKHKKLI
670 680 690 700 710 720
NRPQSTKRVS KDPVEALWDN LLHWLAEELS EENAESLSST LPLRRSTIQL IKLKNPDDLT
730 740 750 760 770 780
EQIHEFLCFW KKSLPTFTDK LRLLARHLRK IGRSDLAEEL KFKWENKVFT EPQQCFDVAP
E