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 Q3ZCV2

Entry ID Method Resolution Chain Position Source
AF-Q3ZCV2-F1 Predicted AlphaFoldDB

391 variants for Q3ZCV2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA340452206
rs1320606874
2 R>T No ClinGen
gnomAD
rs1302118356
CA340452218
3 E>Q No ClinGen
TOPMed
CA22750070
rs1045595675
5 Q>R No ClinGen
TOPMed
CA870010
rs755832953
6 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA340452351
rs755832953
6 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs778932006
CA870016
8 A>D No ClinGen
ExAC
gnomAD
CA870013
rs371601615
8 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA870014
rs371601615
8 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778932006
CA870015
8 A>V No ClinGen
ExAC
gnomAD
rs1557782388
CA340452500
11 H>P No ClinGen
Ensembl
CA340452579
rs1203776743
14 N>D No ClinGen
TOPMed
gnomAD
rs1203776743
CA340452573
14 N>H No ClinGen
TOPMed
gnomAD
rs1265316524
CA340452619
15 R>C No ClinGen
gnomAD
rs1166848836
CA340452630
16 V>I No ClinGen
gnomAD
rs961245444
CA340452658
17 G>A No ClinGen
TOPMed
gnomAD
rs961245444
CA22750123
17 G>D No ClinGen
TOPMed
gnomAD
CA340452651
rs771231580
17 G>R No ClinGen
ExAC
gnomAD
CA870020
rs771231580
17 G>S No ClinGen
ExAC
gnomAD
rs776559077
CA870021
18 S>P No ClinGen
ExAC
gnomAD
rs72895754
CA870023
19 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340452687
rs1342980332
20 A>D No ClinGen
TOPMed
gnomAD
CA22750156
rs940967540
22 K>R No ClinGen
TOPMed
gnomAD
rs1203723565
CA340452758
23 W>C No ClinGen
TOPMed
rs1359976823
CA340452752
23 W>L No ClinGen
gnomAD
rs1557782486
CA340452762
24 F>L No ClinGen
Ensembl
rs1557782486
CA340452760
24 F>V No ClinGen
Ensembl
rs1444804260
CA340452812
26 G>A No ClinGen
TOPMed
gnomAD
rs775927530
CA870024
CA340452806
26 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1321514227
CA340452817
27 A>T No ClinGen
TOPMed
rs868010478
CA22750162
27 A>V No ClinGen
gnomAD
rs1280114145
CA340452829
28 P>S No ClinGen
TOPMed
rs774829864
CA870027
29 F>C No ClinGen
ExAC
gnomAD
rs760234083
CA870028
CA340452865
30 G>R No ClinGen
ExAC
gnomAD
rs866917675
CA22750186
31 V>A No ClinGen
Ensembl
rs569094306
CA870030
31 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs569094306
CA870029
31 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1473495996
CA340452910
33 S>G No ClinGen
TOPMed
gnomAD
TCGA novel 37 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 40 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757018614
CA340453327
43 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs757018614
CA870055
43 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA340453324
rs751456097
43 P>S No ClinGen
ExAC
gnomAD
CA870054
rs751456097
43 P>T No ClinGen
ExAC
gnomAD
CA870056
rs371279186
44 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340453390
rs1281558223
48 F>L No ClinGen
TOPMed
rs750613255
CA870057
50 T>A No ClinGen
ExAC
gnomAD
CA870059
rs780095968
53 E>Q No ClinGen
ExAC
gnomAD
rs749454922
CA870060
54 A>T No ClinGen
ExAC
gnomAD
CA340453471
rs1384145942
54 A>V No ClinGen
TOPMed
COSM350082
CA870061
rs768626695
55 P>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA870062
rs113358192
57 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA870063
rs564288036
58 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773749433
CA870065
COSM191923
59 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA870066
rs773749433
59 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA870067
rs202144840
59 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1332625405
CA340453533
60 Y>* No ClinGen
gnomAD
rs115158797
CA870068
60 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA870069
rs762458770
63 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs761794966
CA870089
66 H>Q No ClinGen
ExAC
gnomAD
rs1191101614
CA340453607
67 I>K No ClinGen
gnomAD
CA340453605
rs1428066766
67 I>V No ClinGen
gnomAD
rs767508565
CA870090
68 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs773135491
CA870091
68 G>V No ClinGen
ExAC
gnomAD
rs1021024984
CA22751254
69 P>L No ClinGen
TOPMed
gnomAD
rs760402084
CA870092
69 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs754055679
CA870094
74 S>P No ClinGen
ExAC
gnomAD
CA870095
rs146088179
75 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752779858
CA870097
76 E>A No ClinGen
ExAC
gnomAD
CA870099
rs778359724
78 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA340453675
rs1485816911
78 C>S No ClinGen
gnomAD
rs747533556
CA870100
80 S>G No ClinGen
ExAC
gnomAD
CA870101
rs757647863
81 K>T No ClinGen
ExAC
gnomAD
TCGA novel 83 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781449937
CA870102
83 K>Q No ClinGen
ExAC
gnomAD
CA340453713
rs1453291497
83 K>T No ClinGen
TOPMed
rs1281701791
CA340453716
84 L>M No ClinGen
gnomAD
CA870103
rs748948493
86 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs372048254
CA22751271
87 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372048254
CA870104
87 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340453778
rs1451583403
90 T>I No ClinGen
gnomAD
CA340453787
rs1421872601
91 G>A No ClinGen
TOPMed
rs1406189201
CA340453781
91 G>S No ClinGen
gnomAD
CA340453793
rs1570132470
92 W>G No ClinGen
Ensembl
rs944230387
CA22751282
96 Q>K No ClinGen
Ensembl
rs267598656
CA22751289
97 E>K No ClinGen
Ensembl
rs1334359233
CA340453872
COSM1343548
99 T>A Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs368525051
CA870107
99 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA870110
rs766169578
100 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA870109
rs142483178
100 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340453900
rs1009830017
102 T>P No ClinGen
Ensembl
rs765447741
CA870113
102 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1009830017
CA22751300
102 T>S No ClinGen
Ensembl
CA340453909
rs1439078389
103 Q>E No ClinGen
TOPMed
CA340453912
rs1570132574
103 Q>P No ClinGen
Ensembl
rs1203111261
CA340453928
105 P>T No ClinGen
TOPMed
gnomAD
CA340453947
rs1213642918
106 H>P No ClinGen
TOPMed
rs1213642918
CA340453946
106 H>R No ClinGen
TOPMed
CA340453968
rs1241596902
108 Q>* No ClinGen
TOPMed
gnomAD
rs558450851
CA870115
110 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
rs558450851
CA22751301
110 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
CA870119
rs752073834
113 M>T No ClinGen
ExAC
gnomAD
CA340454065
rs577954332
115 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA870123
rs201438425
117 R>Q Variant assessed as Somatic; 4.832e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202224828
CA870122
117 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340454216
rs1224494366
124 G>C No ClinGen
gnomAD
TCGA novel 124 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA870146
rs373507359
125 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340454261
rs868510092
126 G>A No ClinGen
TOPMed
CA870148
VAR_034645
rs9782980
126 G>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA22751541
rs868510092
126 G>D No ClinGen
TOPMed
CA870149
rs9782980
126 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA22751549
rs1041230634
127 S>T No ClinGen
Ensembl
CA870151
rs780935770
127 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1185420548
CA340454282
128 Y>C No ClinGen
TOPMed
gnomAD
CA340454307
rs1433389856
129 N>S No ClinGen
TOPMed
rs1417011599
CA340454360
131 K>R No ClinGen
gnomAD
CA340454372
rs1446052060
132 D>G No ClinGen
gnomAD
rs913474423
CA22751560
134 L>V No ClinGen
gnomAD
rs775466852
CA870154
136 Q>R No ClinGen
ExAC
gnomAD
CA870155
rs763253855
137 L>Q No ClinGen
ExAC
gnomAD
rs774718397
CA870157
138 R>Q No ClinGen
ExAC
gnomAD
rs147950628
CA870156
138 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340454458
rs1362177938
139 E>D No ClinGen
gnomAD
CA340454447
rs1248465890
139 E>K No ClinGen
gnomAD
rs749894210
CA870160
140 K>RGQ* No ClinGen
ExAC
rs1570133154
CA340454482
141 P>L No ClinGen
Ensembl
rs767655117
CA870163
142 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA870164
rs147552277
144 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM535551
rs1447491950
CA340454546
145 R>Q lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs766703561
CA870166
145 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA870168
rs758044158
146 G>R No ClinGen
ExAC
gnomAD
rs1384217002
CA340454621
149 S>G No ClinGen
gnomAD
CA870170
rs148177060
150 S>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1388494037
CA340454701
152 E>G No ClinGen
gnomAD
rs528921936
CA22751655
153 V>F No ClinGen
1000Genomes
TOPMed
rs141936308
CA870172
COSM910957
154 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3400897
CA340454725
rs1401825123
154 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs745763474
CA870173
155 F>L No ClinGen
ExAC
gnomAD
CA870174
rs138973950
156 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138973950
CA870175
156 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749022045
CA870176
156 R>P No ClinGen
ExAC
gnomAD
rs749022045
CA340454755
156 R>Q No ClinGen
ExAC
gnomAD
CA22751704
rs1014787270
158 L>F No ClinGen
gnomAD
CA22751706
rs961952304
160 G>V No ClinGen
Ensembl
rs892783223
CA22754052
162 Y>C No ClinGen
TOPMed
gnomAD
CA870211
rs767131445
165 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1050412158
CA22754063
166 P>S No ClinGen
TOPMed
gnomAD
rs890529834
CA22754067
168 N>D No ClinGen
Ensembl
rs185058391
CA870213
169 Y>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766015942
CA870214
170 G>A No ClinGen
ExAC
gnomAD
rs1277292543
CA340455826
170 G>R No ClinGen
TOPMed
rs755010362
CA870216
171 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs753793925
CA870215
171 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA870217
rs778555274
173 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA340455922
rs1322760019
175 P>S No ClinGen
gnomAD
rs72671882
CA340455958
176 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM535549
rs1465543918
CA340455950
176 Y>F lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs758136910
CA870219
176 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1250133325
CA340456023
181 E>Q No ClinGen
gnomAD
rs1011504398
CA22754109
183 A>P No ClinGen
Ensembl
CA340456099
rs1347113880
183 A>V No ClinGen
TOPMed
gnomAD
rs747220751
CA870221
TCGA novel
184 W>* Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
rs781291820
CA340456151
186 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs781291820
CA870224
186 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs781291820
CA870223
186 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs557753528
CA870222
186 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA22754114
rs867793576
188 H>Y No ClinGen
Ensembl
CA22754127
rs970067420
190 E>G No ClinGen
Ensembl
CA870226
rs139677684
190 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA870228
rs763318737
191 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA870229
rs763318737
191 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA340456207
rs1338321927
191 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA870227
rs763318737
191 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA22754133
rs140694038
192 L>F No ClinGen
ESP
TOPMed
CA870230
rs760440349
193 M>I No ClinGen
ExAC
gnomAD
rs960369699
CA22754143
196 M>I No ClinGen
TOPMed
gnomAD
rs368521655
CA870231
196 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA22754140
rs927648503
196 M>T No ClinGen
Ensembl
CA870232
rs753453051
198 N>K No ClinGen
ExAC
gnomAD
CA870235
rs371945610
201 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA870234
rs765159171
201 H>Y No ClinGen
ExAC
TOPMed
rs150096503
CA870236
202 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs560071108
CA870238
203 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA870237
rs777462327
COSM1560562
203 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340456512
rs1424984108
204 P>T No ClinGen
TOPMed
gnomAD
CA340456521
rs600499
205 H>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs600499
CA22754195
VAR_054410
205 H>Y No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA870240
rs781236008
206 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA870263
rs749777216
209 G>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 209 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340456725
rs1241820340
210 L>M No ClinGen
TOPMed
gnomAD
rs1022924490
CA22754335
212 P>L No ClinGen
Ensembl
CA22754348
rs1002422438
213 G>S No ClinGen
TOPMed
rs779412486
CA870265
214 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA22754353
rs184975243
215 Y>D No ClinGen
1000Genomes
rs1557786120
CA340456854
215 Y>S No ClinGen
Ensembl
TCGA novel 216 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA870269
rs776376193
217 F>S No ClinGen
ExAC
gnomAD
CA870271
rs745550266
218 K>R No ClinGen
ExAC
gnomAD
rs769319377
CA870272
219 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs1455242030
CA340456996
220 D>A No ClinGen
gnomAD
rs148767357
CA870274
220 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA870275
rs764007137
221 L>F No ClinGen
ExAC
gnomAD
CA870277
rs761545032
224 Y>H No ClinGen
ExAC
gnomAD
rs1240756011
CA340457145
226 A>T No ClinGen
TOPMed
rs1570138822
CA340457165
226 A>V No ClinGen
Ensembl
rs373289406
CA870278
227 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750612882
CA340457174
227 R>P No ClinGen
ExAC
gnomAD
rs750612882
CA870279
227 R>Q Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs753930400
CA870282
229 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs539683546
CA870284
230 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs556342674
CA870285
231 T>P No ClinGen
1000Genomes
ExAC
gnomAD
CA870287
rs778325351
232 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA870288
rs552406217
232 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs775062915
CA870290
233 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA340457328
rs1413337028
234 P>L No ClinGen
gnomAD
CA523275205
rs1451238188
235 Y>* No ClinGen
gnomAD
rs748681740
CA870293
235 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA340457404
rs1197703505
238 F>C No ClinGen
TOPMed
CA870294
rs768175631
238 F>L No ClinGen
ExAC
gnomAD
CA340457403
rs1197703505
238 F>S No ClinGen
TOPMed
CA870295
rs141829608
239 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA870296
rs141829608
239 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1370300945
CA340457439
240 G>D No ClinGen
gnomAD
rs138730701
CA870297
240 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200886761
CA870298
242 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA870300
rs142137727
242 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200886761
CA870299
COSM1687728
242 R>W skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA340457503
rs1346236761
243 S>N No ClinGen
gnomAD
rs754100738
CA870301
243 S>R No ClinGen
ExAC
gnomAD
rs1309462149
CA340457631
247 P>L No ClinGen
gnomAD
rs759488228
CA870302
248 Y>* No ClinGen
ExAC
gnomAD
rs1273676937
CA340457742
250 H>D No ClinGen
gnomAD
TCGA novel 250 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340457813
rs1481917078
251 Y>C No ClinGen
gnomAD
CA870303
rs765441271
252 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1232781880
CA340457876
253 M>I No ClinGen
TOPMed
rs753228860
CA870304
253 M>T No ClinGen
ExAC
gnomAD
rs776679689
CA870322
255 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs765388764
CA870324
256 K>* No ClinGen
ExAC
gnomAD
CA340458816
rs1243370786
256 K>N No ClinGen
TOPMed
gnomAD
CA870325
rs752883387
256 K>R No ClinGen
ExAC
gnomAD
CA340458842
rs1485878277
257 K>R No ClinGen
gnomAD
rs1055674046
CA22755713
258 P>H No ClinGen
Ensembl
rs532814421
CA870326
258 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340458922
rs1292059982
260 E>* No ClinGen
TOPMed
rs896896804
CA22755716
261 L>V No ClinGen
TOPMed
CA870328
rs752122117
262 M>V No ClinGen
ExAC
gnomAD
CA340459007
rs1570141425
263 N>I No ClinGen
Ensembl
rs1570141438
CA340459048
263 N>K No ClinGen
Ensembl
CA22755732
rs1014146055
266 S>N No ClinGen
Ensembl
CA340459150
rs1313170316
267 F>V No ClinGen
TOPMed
CA340459182
rs1415208117
268 V>A No ClinGen
gnomAD
CA870330
rs549458732
270 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1374472058
CA340459266
272 N>H No ClinGen
TOPMed
rs1347044604
CA340459297
273 S>P No ClinGen
gnomAD
rs374249337
CA870331
274 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374249337
CA22755771
274 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1320205047
CA340459509
278 K>T No ClinGen
gnomAD
rs200136397
CA870333
279 H>D No ClinGen
ExAC
TOPMed
gnomAD
rs200136397
CA870332
279 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA340459561
rs1284601693
280 G>R No ClinGen
gnomAD
rs771581871
CA870335
281 V>D No ClinGen
ExAC
TOPMed
gnomAD
CA870334
rs747586144
COSM1343550
281 V>F Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA870336
rs777519817
286 P>A No ClinGen
ExAC
gnomAD
TCGA novel 286 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747001366
CA870337
286 P>R No ClinGen
ExAC
gnomAD
CA22755805
rs777519817
286 P>S No ClinGen
ExAC
gnomAD
CA870338
rs770603510
287 R>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 287 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM173561
CA22755825
rs368171733
287 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
gnomAD
rs1382917340
CA340459856
288 N>I No ClinGen
TOPMed
CA870339
rs763509919
COSM910958
289 P>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA340459872
rs1462355199
289 P>S No ClinGen
gnomAD
CA340459862
rs1462355199
289 P>T No ClinGen
gnomAD
CA870341
rs556765220
293 T>A No ClinGen
ExAC
gnomAD
CA870342
rs775859644
293 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs200750891
CA22755845
294 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA22755850
rs200750891
294 E>V No ClinGen
TOPMed
gnomAD
rs1158476924
CA340460000
295 R>G No ClinGen
gnomAD
rs763070633
CA870343
296 I>V No ClinGen
ExAC
gnomAD
CA870344
rs764264704
298 W>G No ClinGen
ExAC
TOPMed
gnomAD
CA340460104
rs764264704
298 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs774687338
CA870345
299 A>P No ClinGen
ExAC
gnomAD
rs1570141709
CA340460190
300 N>T No ClinGen
Ensembl
CA340460198
rs1445541704
301 L>V No ClinGen
gnomAD
rs756470759
CA870350
304 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs750862506
CA870349
304 C>Y No ClinGen
ExAC
rs764809659
CA870351
305 P>H No ClinGen
ExAC
gnomAD
rs764809659
CA340460293
305 P>L No ClinGen
ExAC
gnomAD
rs563006764
CA870352
306 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs563006764
CA340460298
306 R>G No ClinGen
1000Genomes
ExAC
gnomAD
rs75313102
CA870355
306 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA870353
rs75313102
306 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA870354
rs75313102
306 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340460323
rs1200679919
307 T>A No ClinGen
gnomAD
rs1277471585
CA340460371
308 L>R No ClinGen
gnomAD
CA340461017
rs1477181341
310 T>I No ClinGen
gnomAD
CA340461038
rs1366840925
311 S>T No ClinGen
TOPMed
CA870380
rs780043349
313 P>A No ClinGen
ExAC
gnomAD
rs1300389819
CA340461168
315 F>S No ClinGen
gnomAD
CA870382
rs768989978
316 W>C No ClinGen
ExAC
gnomAD
rs1428862448
CA340461203
316 W>S No ClinGen
gnomAD
CA340461236
rs1367345821
318 P>S No ClinGen
gnomAD
TCGA novel 320 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340461317
rs1328797634
COSM910959
321 K>N endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 323 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772064684
CA870385
323 C>Y No ClinGen
ExAC
gnomAD
CA870387
rs761213662
325 P>S No ClinGen
ExAC
CA22756626
COSM2152377
rs201728919
326 V>I Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
CA340461432
rs1419445951
327 N>S No ClinGen
TOPMed
rs925011044
CA22756630
327 N>Y No ClinGen
TOPMed
CA340461506
rs1273167820
329 P>R No ClinGen
gnomAD
CA870389
rs777041620
330 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs762512727
CA870390
331 F>L No ClinGen
ExAC
gnomAD
TCGA novel 333 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148644942
CA22756648
334 T>N No ClinGen
ESP
gnomAD
rs981378042
CA22756646
334 T>P No ClinGen
gnomAD
CA340461619
rs1190824136
336 K>N No ClinGen
TOPMed
gnomAD
CA340461630
CA870392
rs376296387
337 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761339063
CA870393
338 S>* No ClinGen
ExAC
gnomAD
CA870394
rs767169780
339 G>D No ClinGen
ExAC
gnomAD
rs1166446334
CA340461677
339 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA340461751
rs1162521076
342 A>V No ClinGen
gnomAD
rs75191355
CA870396
343 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340461874
rs1434879806
347 M>I No ClinGen
gnomAD
CA340461854
rs1320886227
347 M>L No ClinGen
TOPMed
gnomAD
CA870397
rs779990338
347 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA870412
rs562564414
352 P>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1396957895
CA340462743
354 G>D No ClinGen
gnomAD
CA870415
rs542343089
356 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA870414
rs531676172
356 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs144772293
CA870416
357 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754760108
CA870417
357 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA22757794
rs1051071602
360 N>S No ClinGen
TOPMed
CA340462903
rs1328498450
361 T>N No ClinGen
gnomAD
CA22757798
rs1029231831
362 W>* No ClinGen
Ensembl
CA870418
rs375175699
364 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375175699
CA22757802
364 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 366 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 366 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752943847
CA870419
368 D>H No ClinGen
ExAC
gnomAD
rs747029211
CA870422
370 R>P No ClinGen
ExAC
gnomAD
rs747029211
CA340463162
370 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs146890884
CA870421
370 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340463185
rs1182758223
371 Q>R No ClinGen
gnomAD
rs781628316
CA870424
372 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs989208592
CA22757848
372 R>Q No ClinGen
Ensembl
rs143295653
CA870426
374 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA870427
rs143295653
374 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747831975
CA870428
374 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA870431
rs148287584
376 L>Q No ClinGen
ESP
ExAC
gnomAD
CA870430
rs373489791
376 L>V No ClinGen
ESP
ExAC
gnomAD
CA22757901
rs4999211
377 F>S No ClinGen
Ensembl
CA340463344
rs1302661985
380 G>V No ClinGen
gnomAD
CA870432
rs766014289
382 K>* No ClinGen
ExAC
gnomAD
CA22757920
rs927900802
383 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1289451179
CA340463416
384 Y>C No ClinGen
gnomAD
CA340463427
rs1166127476
385 L>F No ClinGen
TOPMed
gnomAD
CA340463547
rs376402163
390 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA870435
rs148430708
390 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA870434
rs376402163
390 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752503910
CA870436
391 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA22757934
rs886409113
391 D>N No ClinGen
gnomAD
rs1205793692
CA340463600
392 M>I No ClinGen
TOPMed
gnomAD
CA340463595
rs1557789191
392 M>L No ClinGen
Ensembl
rs764247458
CA340463598
392 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA870438
rs764247458
392 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA340463613
rs1286441726
393 L>F No ClinGen
TOPMed
CA340463637
rs1192395823
394 M>I No ClinGen
TOPMed
gnomAD
CA870440
rs757287929
394 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA340467798
rs1432453292
397 R>G No ClinGen
TOPMed
CA340467816
rs1334607865
397 R>S No ClinGen
TOPMed
gnomAD
CA340467853
rs1358311811
400 P>A No ClinGen
gnomAD
CA340467854
rs1412874339
400 P>Q No ClinGen
gnomAD
CA870498
rs574255393
403 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA22773482
rs1009557074
404 G>E No ClinGen
TOPMed
gnomAD
CA340467905
rs1009557074
404 G>V No ClinGen
TOPMed
gnomAD
rs1187364807
CA340467917
405 K>* No ClinGen
TOPMed
rs766354000
CA870500
407 P>T No ClinGen
ExAC
gnomAD
rs1279793701
CA340467960
408 P>L No ClinGen
TOPMed
gnomAD
CA340467953
rs759695474
408 P>S No ClinGen
ExAC
TOPMed
CA870502
rs759695474
408 P>T No ClinGen
ExAC
TOPMed
CA340467971
rs1206156906
410 V>M No ClinGen
TOPMed
CA340467995
rs1209435728
411 D>G No ClinGen
gnomAD
CA870505
rs376151695
412 Y>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA22773494
rs1008117826
413 N>S No ClinGen
TOPMed
CA340468051
rs1181508476
414 S>L No ClinGen
gnomAD
TCGA novel 416 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1479141822
CA340468086
417 T>S No ClinGen
TOPMed
gnomAD
rs1173320913
CA340468093
418 P>S No ClinGen
gnomAD

No associated diseases with Q3ZCV2

1 regional properties for Q3ZCV2

Type Name Position InterPro Accession
domain Luciferase-like domain 1 - 320 IPR011251

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

No GO annotations of biological process

Name Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MRESQDAAGA HGWNRVGSTA TKWFTGAPFG VQSHRFDISA VYPNWKKFST FTEAPYSTRY
70 80 90 100 110 120
STQVSHIGPG TYSSKETCFS KKKLMKEVDT GWAKAQEATR LTQLPHFQYQ AIMKEKRLKE
130 140 150 160 170 180
QKLGPGSYNL KDFLEQLREK PCSTRGLLSS GEVRFRGLTG NYYPGPGNYG EKGNPYTKLE
190 200 210 220 230 240
ENAWNRSHSE GLMCRMSNKP HPRPHQGSGL GPGTYFFKSD LETYVARSVG TRGPYDTFSG
250 260 270 280 290 300
DRSKPLPYGH YSMQKKKPRE LMNFKSFVEE LNSHHNKKHG VFSKLPRNPK TPTERIYWAN
310 320 330 340 350 360
LSQCPRTLAT SGPSFWLPQE KKCKPVNQPP FLLTSKGSGA KACQMIMGSW NPVGVGRYLN
370 380 390 400 410
TWLMETKDRR QRYRSLFLSG SKRYLSDLAR DMLMQERITP FTKGKCPPTV DYNSDPTP