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 A6NK02

Entry ID Method Resolution Chain Position Source
AF-A6NK02-F1 Predicted AlphaFoldDB

399 variants for A6NK02

Variant ID(s) Position Change Description Diseaes Association Provenance
rs770178549
CA3128561
2 A>T No ClinGen
ExAC
gnomAD
rs1388837247
CA442025551
4 A>V No ClinGen
gnomAD
rs1390837724
CA442025560
5 A>G No ClinGen
TOPMed
gnomAD
rs1302642576
CA442025557
5 A>S No ClinGen
gnomAD
rs903816371
CA109717978
6 A>V No ClinGen
Ensembl
CA442025593
rs1276843626
8 T>A No ClinGen
gnomAD
rs1391889609
CA442025596
8 T>N No ClinGen
TOPMed
TCGA novel 9 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3128564
rs771236047
9 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA3128563
rs376399427
9 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764166456
CA3128567
13 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA3128568
rs764166456
13 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA442026104
rs1186533675
16 C>S No ClinGen
TOPMed
gnomAD
rs1251426725
CA442026121
17 S>F No ClinGen
TOPMed
CA3128570
rs761598949
18 I>L No ClinGen
ExAC
gnomAD
rs761598949
CA442026127
18 I>V No ClinGen
ExAC
gnomAD
CA442026159
rs1162560956
20 L>P No ClinGen
gnomAD
rs186864883
CA3128572
22 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA442026216
rs1417020891
24 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1384941578
CA442026230
25 D>E No ClinGen
gnomAD
TCGA novel 26 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 27 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs151313377
CA3128576
27 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 27 V>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA442026263
rs1300398633
28 T>I No ClinGen
gnomAD
rs936684224
CA109718110
29 I>V No ClinGen
TOPMed
rs781704625
CA442026288
30 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA3128578
rs781704625
30 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748699308
CA3128579
32 G>W No ClinGen
ExAC
rs370996331
CA109718142
37 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs756508893
CA3128580
37 R>H No ClinGen
ExAC
gnomAD
rs1485383232
CA442026446
39 C>Y No ClinGen
TOPMed
gnomAD
rs895226700
CA109718146
41 Q>H No ClinGen
TOPMed
gnomAD
rs1008281778
CA442026507
42 Q>P No ClinGen
TOPMed
rs1008281778
CA109718156
42 Q>R No ClinGen
TOPMed
CA442026531
rs1249759273
43 S>F No ClinGen
TOPMed
gnomAD
CA442026528
rs1249759273
43 S>Y No ClinGen
TOPMed
gnomAD
CA3128581
rs778228596
45 L>M No ClinGen
ExAC
gnomAD
TCGA novel 45 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1411261756
CA442026594
47 L>V No ClinGen
gnomAD
CA3128583
rs374418042
48 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774683563
CA3128584
50 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1455933680
CA442026668
51 F>L No ClinGen
gnomAD
CA3128585
rs746011891
52 P>S No ClinGen
ExAC
gnomAD
CA442026722
rs1264238052
53 C>* No ClinGen
TOPMed
TCGA novel 55 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3128586
rs376170632
57 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA109718202
rs376170632
57 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA442026784
rs1235475006
57 R>S No ClinGen
TOPMed
rs1306509016
CA442026836
59 Q>H No ClinGen
gnomAD
rs775366470
CA3128587
59 Q>L No ClinGen
ExAC
gnomAD
TCGA novel 59 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3128588
rs761843656
61 Q>* No ClinGen
ExAC
gnomAD
CA109718212
rs900348254
62 E>Q No ClinGen
Ensembl
rs1269983240
CA442026905
64 H>N No ClinGen
gnomAD
rs1226779715
CA442026939
66 R>K No ClinGen
TOPMed
rs773110565
CA3128590
67 S>I No ClinGen
ExAC
gnomAD
rs762709303
CA3128591
67 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA3128592
rs766091198
68 N>K No ClinGen
ExAC
gnomAD
CA109718280
rs1005065400
69 T>I No ClinGen
TOPMed
gnomAD
CA442026994
rs1005065400
69 T>N No ClinGen
TOPMed
gnomAD
rs751195592
CA442027007
70 Q>* No ClinGen
ExAC
gnomAD
rs751195592
CA3128593
70 Q>K No ClinGen
ExAC
gnomAD
CA3128594
rs766966949
71 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs370547974
CA109718288
73 R>G No ClinGen
ESP
TOPMed
CA3128595
rs767016046
75 I>T No ClinGen
ExAC
gnomAD
CA3128597
rs374852384
77 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA442027168
rs1156757430
78 A>P No ClinGen
TOPMed
rs1473336111
CA442027172
78 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs778119422
CA3128598
79 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs754268321
CA3128599
81 L>P No ClinGen
ExAC
gnomAD
CA109718335
rs1014619911
82 Q>H No ClinGen
Ensembl
rs779363323
CA3128601
83 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA3128602
rs746093691
84 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA442027311
rs1407834710
85 K>E No ClinGen
gnomAD
rs772386055
CA3128603
85 K>M No ClinGen
ExAC
gnomAD
CA3128606
rs747040534
88 K>E No ClinGen
ExAC
gnomAD
CA442027395
rs1313494180
88 K>N No ClinGen
gnomAD
CA442027402
rs1210175226
89 R>K No ClinGen
gnomAD
CA442027450
rs1250480795
91 Q>* No ClinGen
TOPMed
gnomAD
rs1250480795
CA442027448
91 Q>E No ClinGen
TOPMed
gnomAD
rs769812979
CA3128607
93 E>* No ClinGen
ExAC
gnomAD
rs1216065777
CA442027490
93 E>G No ClinGen
TOPMed
rs769812979
CA3128608
93 E>K No ClinGen
ExAC
gnomAD
rs769812979
CA442027488
93 E>Q No ClinGen
ExAC
gnomAD
CA3128609
rs762799213
94 T>N No ClinGen
ExAC
CA442027564
rs1252996827
98 E>K No ClinGen
TOPMed
gnomAD
rs1207219001
CA442027583
99 K>E No ClinGen
TOPMed
CA3128611
rs774063173
100 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs759220892
CA3128612
102 Q>E No ClinGen
ExAC
gnomAD
CA442027665
rs1560915899
103 P>S No ClinGen
Ensembl
CA442027687
rs1371203484
104 L>P No ClinGen
gnomAD
rs367912503
CA3128614
105 S>N No ClinGen
ESP
ExAC
gnomAD
CA3128616
rs760074535
106 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA3128618
rs531259372
110 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 111 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA442027817
rs1369641828
111 D>V No ClinGen
gnomAD
TCGA novel 112 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA109718525
rs969550208
113 M>I No ClinGen
Ensembl
rs541017397
CA3128619
113 M>K No ClinGen
1000Genomes
ExAC
gnomAD
rs541017397
CA3128620
113 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA442027859
rs1273305067
114 V>M No ClinGen
gnomAD
rs750765544
CA3128621
115 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA442027899
rs1206891938
116 C>Y No ClinGen
TOPMed
gnomAD
CA3128622
rs547991162
117 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 118 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1055566647
CA109718578
122 P>H No ClinGen
TOPMed
gnomAD
CA442028005
rs1055566647
122 P>L No ClinGen
TOPMed
gnomAD
rs936649466
CA109718575
122 P>S No ClinGen
TOPMed
CA3128625
rs747177124
124 D>E No ClinGen
ExAC
rs1388402922
CA442028051
125 H>N No ClinGen
gnomAD
rs1451362903
CA442028073
126 Q>* No ClinGen
gnomAD
rs1404415699
CA442028094
127 G>D No ClinGen
gnomAD
rs768600456
CA3128626
128 H>R No ClinGen
ExAC
gnomAD
rs145331625
CA3128627
130 V>E No ClinGen
1000Genomes
ExAC
CA3128628
rs561589234
131 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA3128629
rs373670868
132 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771799408
CA3128632
133 I>M No ClinGen
ExAC
gnomAD
CA3128631
rs759306703
133 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA3128630
rs368660880
133 I>V No ClinGen
ESP
ExAC
gnomAD
rs1229944347
CA442028205
134 E>K No ClinGen
TOPMed
gnomAD
CA442028256
rs775002122
137 A>S No ClinGen
ExAC
gnomAD
rs775002122
CA3128633
137 A>T No ClinGen
ExAC
gnomAD
rs377139648
CA109718605
138 I>F No ClinGen
ESP
TOPMed
gnomAD
rs1052837970
CA109718610
139 H>R No ClinGen
Ensembl
CA442028305
rs1292480900
140 Y>N No ClinGen
gnomAD
CA109718615
rs944089379
141 R>S No ClinGen
gnomAD
rs548680988
CA3128636
142 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs372284578
CA3128637
146 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765815347
CA3128638
146 S>I No ClinGen
ExAC
gnomAD
rs17045931
CA3128640
147 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA442028456
rs1579191391
149 Q>E No ClinGen
Ensembl
CA3128641
rs766677979
150 P>L No ClinGen
ExAC
gnomAD
rs755165885
CA3128644
152 K>R No ClinGen
ExAC
gnomAD
CA3128645
rs765660639
153 K>R No ClinGen
ExAC
gnomAD
rs757192242 153 K>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA442028574
rs1436729033
155 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA442028635
rs1364322845
159 Q>K No ClinGen
TOPMed
CA442028664
rs1294062035
161 L>* No ClinGen
gnomAD
CA3128647
rs757236650
163 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA3128648
rs778793502
164 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA3128649
rs369160867
164 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA109718715
rs752810394
165 Q>P No ClinGen
Ensembl
CA3128650
rs771751908
168 K>N No ClinGen
ExAC
TOPMed
CA442028781
rs1357521577
168 K>Q No ClinGen
gnomAD
CA3128651
rs775298220
169 P>R No ClinGen
ExAC
gnomAD
TCGA novel 169 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA109718755
rs777931709
172 L>M No ClinGen
ExAC
gnomAD
rs954473014
CA109718760
172 L>R No ClinGen
TOPMed
rs1255564612
CA442028904
173 R>G No ClinGen
gnomAD
rs776328236
CA3128654
175 M>V No ClinGen
ExAC
CA109718773
rs750797794
176 V>M No ClinGen
gnomAD
rs1189908477
CA442029013
177 E>G No ClinGen
TOPMed
gnomAD
rs761374562
CA3128656
179 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA3128658
rs552543407
182 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 183 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3128659
rs376157880
184 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs967163447
CA109718825
186 E>A No ClinGen
TOPMed
CA442029278
rs766661204
188 E>D No ClinGen
ExAC
gnomAD
CA3128661
rs747153360
189 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs1242082166
CA442029303
190 L>F No ClinGen
gnomAD
rs1335831642
CA442029309
190 L>P No ClinGen
gnomAD
CA109718837
rs369928647
191 N>I No ClinGen
ESP
TOPMed
CA3128662
rs755181199
192 Q>H No ClinGen
ExAC
gnomAD
TCGA novel 195 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767707006
CA3128663
196 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3128664
rs373384813
196 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs990825448
CA109718878
198 Q>H No ClinGen
TOPMed
gnomAD
TCGA novel 202 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1202215674
CA442029641
204 R>T No ClinGen
gnomAD
rs1216255080
CA442029749
209 E>A No ClinGen
TOPMed
rs778881327
CA3128667
210 K>E No ClinGen
ExAC
gnomAD
rs745818525
CA3128668
210 K>T No ClinGen
ExAC
gnomAD
rs1473425499
CA442029810
211 D>G No ClinGen
gnomAD
CA442029888
rs1340004247
215 K>E No ClinGen
TOPMed
CA109718925
rs916541796
215 K>N No ClinGen
TOPMed
gnomAD
CA442029936
rs1173810827
217 S>I No ClinGen
gnomAD
rs758315366
CA3128670
217 S>R No ClinGen
ExAC
gnomAD
CA442029987
rs1375464211
219 N>D No ClinGen
gnomAD
CA442030003
rs1428713959
220 I>V No ClinGen
gnomAD
CA3128671
rs779734168
221 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1313087261
CA442030058
223 F>L No ClinGen
TOPMed
CA442030065
rs1408883207
224 S>A No ClinGen
TOPMed
CA442030073
rs1410804515
224 S>L No ClinGen
gnomAD
rs768230533
CA109718954
227 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs768230533
CA3128673
227 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1412078487
CA442030136
228 A>D No ClinGen
TOPMed
rs747715181
CA3128675
229 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs747715181
CA442030155
229 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA3128677
rs146517052
232 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA442030215
rs1474444424
232 S>R No ClinGen
TOPMed
CA442030229
rs1560916144
233 Q>H No ClinGen
Ensembl
CA3128678
rs535317076
233 Q>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1266661258
CA442030306
238 V>A No ClinGen
gnomAD
CA3128680
rs774630283
239 E>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 242 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA442030359
rs1579191530
242 E>K No ClinGen
Ensembl
CA3128681
rs759916417
243 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1395195529
CA442030441
246 L>P No ClinGen
gnomAD
CA3128682
rs767796818
248 L>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 255 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3128687
rs758316683
257 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA442030634
rs758316683
257 E>Q No ClinGen
ExAC
gnomAD
CA442030645
rs1226582512
258 S>P No ClinGen
TOPMed
rs1364571735
CA442030704
261 E>G No ClinGen
TOPMed
gnomAD
CA3128688
rs780009334
262 S>G No ClinGen
ExAC
gnomAD
rs773394756
CA109719054
262 S>N No ClinGen
Ensembl
rs1300145400
CA442030740
263 S>G No ClinGen
TOPMed
gnomAD
rs1244266491
CA442030789
265 S>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1244266491
CA442030792
265 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs751376334
CA3128689
265 S>T No ClinGen
ExAC
gnomAD
rs1487362227
CA442030866
269 I>L No ClinGen
gnomAD
rs912522635
CA109719082
269 I>S No ClinGen
Ensembl
rs1487362227
CA442030867
269 I>V No ClinGen
gnomAD
rs944033872
CA109719085
270 H>R No ClinGen
Ensembl
CA442030969
rs1211588685
273 R>S No ClinGen
TOPMed
gnomAD
rs536599015
CA442030990
274 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769526884
CA3128693
275 G>D No ClinGen
ExAC
gnomAD
CA3128694
rs777451252
276 C>Y No ClinGen
ExAC
gnomAD
rs1391692694
CA442031041
277 S>G No ClinGen
gnomAD
CA442031046
rs1428758954
277 S>N No ClinGen
gnomAD
TCGA novel 279 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1560916218
CA442031116
280 P>L No ClinGen
Ensembl
rs890093879
CA109719099
281 Q>P No ClinGen
TOPMed
gnomAD
TCGA novel 282 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA442031157
rs1579191601
282 Y>C No ClinGen
Ensembl
CA3128696
rs771384214
282 Y>D No ClinGen
ExAC
gnomAD
CA3128697
rs149085143
283 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1388506035
CA442031187
284 A>T No ClinGen
gnomAD
rs1433071782
CA442031195
284 A>V No ClinGen
gnomAD
rs1362671192
CA442031216
285 L>P No ClinGen
gnomAD
rs760909130
CA3128701
286 Q>H No ClinGen
ExAC
gnomAD
CA442031234
rs374447273
286 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374447273
CA3128700
286 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA442031260
rs764278139
287 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764278139
CA3128702
287 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1304033698
CA442031295
289 I>K No ClinGen
gnomAD
rs559713087
CA109719182
289 I>V No ClinGen
1000Genomes
gnomAD
rs1328377849
CA442031320
290 K>R No ClinGen
gnomAD
CA442031334
rs1178970221
291 K>E No ClinGen
TOPMed
rs1325091097
CA442031354
292 F>I No ClinGen
gnomAD
rs1325091097
CA442031357
292 F>L No ClinGen
gnomAD
TCGA novel 292 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA442031678
rs1180946591
304 H>Q No ClinGen
TOPMed
gnomAD
CA442031665
rs1211737100
304 H>Y No ClinGen
TOPMed
TCGA novel 305 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1262155937
CA442031731
306 N>K No ClinGen
gnomAD
rs1253616318
CA442031744
307 L>Q No ClinGen
gnomAD
CA442031771
rs1273517409
308 I>T No ClinGen
TOPMed
CA3128706
rs751525257
309 V>G No ClinGen
ExAC
gnomAD
CA3128705
rs766282384
309 V>I No ClinGen
ExAC
gnomAD
CA3128707
rs754892682
310 S>T No ClinGen
ExAC
gnomAD
CA109719213
rs370178383
311 E>D No ClinGen
ESP
CA442031905
rs1456118149
312 D>N No ClinGen
gnomAD
CA442031908
rs1456118149
312 D>Y No ClinGen
gnomAD
CA442031963
rs1161953854
314 K>Q No ClinGen
gnomAD
CA442031974
rs1326596310
314 K>T No ClinGen
TOPMed
rs202127759
CA3128709
315 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202127759
CA442031999
315 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752495138
CA3128710
315 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs752495138
CA442032010
315 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs202127759
CA442031996
315 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 315 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1272644662
CA442032086
317 R>I No ClinGen
TOPMed
TCGA novel 317 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3128711
rs755883701
318 F>L No ClinGen
ExAC
gnomAD
rs777452935
CA3128712
319 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1326945706
CA442032175
320 K>E No ClinGen
TOPMed
rs866448316
CA109719277
320 K>R No ClinGen
Ensembl
rs1349574030
CA442032224
321 R>I No ClinGen
gnomAD
CA3128714
rs574658709
321 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 322 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368403192
CA3128716
323 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3128718
rs118166729
325 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs118166729
CA3128717
325 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs118166729
CA3128719
325 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3128721
rs747342328
326 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1579191699
CA442032444
327 G>R No ClinGen
Ensembl
rs368160435
CA3128722
328 F>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA442032484
rs1185036943
328 F>Y No ClinGen
gnomAD
CA109719319
rs1013253717
329 P>S No ClinGen
TOPMed
gnomAD
rs1023327936
CA109719323
330 K>E No ClinGen
gnomAD
rs776897796
CA3128723
331 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 331 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761879264
CA3128724
331 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA442032596
rs747701595
332 F>L No ClinGen
gnomAD
rs531029859
CA3128725
332 F>S No ClinGen
1000Genomes
ExAC
gnomAD
rs747701595
CA109719333
332 F>V No ClinGen
gnomAD
rs1407741924
CA442032668
334 V>F No ClinGen
gnomAD
CA442032664
rs1407741924
334 V>L No ClinGen
gnomAD
rs1281253299
CA442032703
335 K>Q No ClinGen
gnomAD
rs759564772
CA442032745
336 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs759564772
CA3128727
336 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1218188876
CA442032766
337 V>I No ClinGen
gnomAD
CA3128728
rs767543894
338 V>A No ClinGen
ExAC
gnomAD
CA442032804
rs1560916388
338 V>F No ClinGen
Ensembl
CA3128730
rs774219771
339 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs373177133
CA3128731
342 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1360306830
CA442032965
343 Y>S No ClinGen
TOPMed
TCGA novel 350 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 350 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3128734
rs778516952
353 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA442033381
rs1358805788
356 G>R No ClinGen
TOPMed
CA442033428
rs1427388619
357 D>G No ClinGen
gnomAD
CA3128735
rs745359039
360 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1560916428
CA442033545
361 W>R No ClinGen
Ensembl
rs1388517151
CA442033641
363 I>M No ClinGen
gnomAD
rs191329306
CA3128736
363 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1427657729
CA442033737
366 C>S No ClinGen
TOPMed
gnomAD
rs1427657729
CA442033736
366 C>Y No ClinGen
TOPMed
gnomAD
rs780532333
CA3128737
367 K>E No ClinGen
ExAC
gnomAD
rs1354839473
CA442033778
367 K>R No ClinGen
gnomAD
CA442033816
rs1263572076
368 D>G No ClinGen
TOPMed
CA109719395
rs988750747
368 D>Y No ClinGen
Ensembl
TCGA novel 369 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA442033903
rs1291666991
371 P>L No ClinGen
TOPMed
gnomAD
rs1291666991
CA442033908
371 P>R No ClinGen
TOPMed
gnomAD
TCGA novel 372 T>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 372 T>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769075905
CA3128739
374 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs932186904
CA109719436
377 P>L No ClinGen
TOPMed
gnomAD
rs776792048
CA442034078
377 P>S No ClinGen
ExAC
gnomAD
CA3128740
rs776792048
377 P>T No ClinGen
ExAC
gnomAD
rs1227323537
CA442034136
379 S>L No ClinGen
TOPMed
rs141550654
CA3128742
380 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3128741
rs748429572
380 A>T No ClinGen
ExAC
gnomAD
CA442034262
rs1451351443
382 Q>* No ClinGen
gnomAD
rs1051075690
CA109719443
382 Q>H No ClinGen
TOPMed
rs1316130840
CA442034328
383 E>K No ClinGen
gnomAD
rs546859833
CA3128743
384 C>F No ClinGen
1000Genomes
ExAC
CA442034450
rs1220028070
385 W>* No ClinGen
gnomAD
rs1220028070
CA442034478
385 W>C No ClinGen
gnomAD
TCGA novel 385 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA442034533
rs1255415039
387 I>T No ClinGen
TOPMed
gnomAD
rs763099095
CA3128744
388 E>G No ClinGen
ExAC
gnomAD
rs1246482346
CA442034588
389 L>M No ClinGen
gnomAD
TCGA novel 390 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 391 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA442034681
rs1451573037
392 D>N No ClinGen
gnomAD
CA109719461
rs890719213
393 G>S No ClinGen
TOPMed
gnomAD
CA442034813
rs1419992433
394 Y>C No ClinGen
gnomAD
rs767631904
CA3128745
394 Y>N No ClinGen
ExAC
TOPMed
gnomAD
rs775558836
CA3128746
395 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA3128750
rs372390721
399 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756957159
CA3128751
401 P>L No ClinGen
ExAC
gnomAD
CA3128752
rs568428229
402 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 404 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1012761655
CA109719545
405 L>F No ClinGen
TOPMed
gnomAD
rs931372161
CA109719535
405 L>S No ClinGen
Ensembl
rs748434893
CA3128759
406 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1194230273
CA442035443
412 A>D No ClinGen
gnomAD
CA3128762
rs112214814
412 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3128763
rs771150020
413 I>V No ClinGen
ExAC
TOPMed
rs373758333
CA3128764
414 G>D No ClinGen
ESP
ExAC
gnomAD
CA3128765
rs760697812
415 I>N No ClinGen
ExAC
gnomAD
TCGA novel 418 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA442035633
rs909005641
418 D>N No ClinGen
gnomAD
CA109719624
rs909005641
418 D>Y No ClinGen
gnomAD
rs376693859
CA3128767
419 Y>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376693859
CA442035654
419 Y>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761508981
CA3128768
422 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs1560916571
CA442035795
424 I>L No ClinGen
Ensembl
rs1356357075
CA442035819
424 I>M No ClinGen
TOPMed
rs537144111
CA3128769
425 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765903059
CA3128772
428 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA3128774
rs755553606
429 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs755553606
CA3128775
429 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA3128773
rs751016875
429 M>V No ClinGen
ExAC
gnomAD
rs753176713
CA3128776
431 E>* No ClinGen
ExAC
gnomAD
rs1166844583
CA442036047
431 E>G No ClinGen
TOPMed
TCGA novel 433 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1560916607
CA442036522
441 T>N No ClinGen
Ensembl
CA3128780
rs778228991
443 T>I No ClinGen
ExAC
gnomAD
TCGA novel 443 T>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749527622
CA3128781
444 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs77235885
CA3128783
445 P>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA442036787
rs1361959244
447 R>Q No ClinGen
gnomAD
CA3128784
rs745914840
447 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA442036818
rs1470914573
448 P>T No ClinGen
gnomAD
CA3128788
rs775944401
449 Y>* No ClinGen
ExAC
CA3128789
CA442036931
rs768705789
450 F>L No ClinGen
ExAC
gnomAD
CA109719804
rs1032085944
450 F>V No ClinGen
Ensembl
rs776418732
CA3128790
451 Y>C No ClinGen
ExAC
CA3128792
rs183550994
452 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3128795
rs553271414
454 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs762613539
CA3128794
454 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs751118213
CA3128796
455 D>H No ClinGen
ExAC
gnomAD
rs1338035591
CA442037182
457 Q>K No ClinGen
gnomAD
rs1240321637
CA442037186
457 Q>P No ClinGen
gnomAD
rs975654338
CA109719837
460 R>G No ClinGen
TOPMed
CA442037425
rs1342913365
462 C>R No ClinGen
gnomAD
rs1485898205
CA442037535
464 G>E No ClinGen
gnomAD
rs768131798
CA3128798
464 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1204166077
CA442037578
465 T>A No ClinGen
gnomAD
TCGA novel 465 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3128799
rs753160062
465 T>R No ClinGen
ExAC
rs756578145
CA3128800
468 E>D No ClinGen
ExAC
gnomAD
CA3128802
rs189009355
469 E>L No ClinGen
1000Genomes
ExAC
gnomAD
CA3128801
rs778315010
469 E>R No ClinGen
ExAC
gnomAD

No associated diseases with A6NK02

13 regional properties for A6NK02

Type Name Position InterPro Accession
domain B-box-type zinc finger 92 - 133 IPR000315
domain Zinc finger, RING-type 16 - 57 IPR001841
domain B30.2/SPRY domain 276 - 468 IPR001870
domain SPRY domain 346 - 465 IPR003877
domain Butyrophylin-like, SPRY domain 292 - 309 IPR003879-1
domain Butyrophylin-like, SPRY domain 309 - 326 IPR003879-2
domain Butyrophylin-like, SPRY domain 331 - 355 IPR003879-3
domain Butyrophylin-like, SPRY domain 361 - 374 IPR003879-4
domain Butyrophylin-like, SPRY domain 404 - 428 IPR003879-5
domain Butyrophylin-like, SPRY domain 434 - 452 IPR003879-6
domain SPRY-associated 293 - 345 IPR006574
conserved_site Zinc finger, RING-type, conserved site 31 - 40 IPR017907
domain TRIM75, PRY/SPRY domain 276 - 462 IPR035785

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton, spindle
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
spindle The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

2 GO annotations of molecular function

Name Definition
ubiquitin protein ligase activity Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
zinc ion binding Binding to a zinc ion (Zn).

4 GO annotations of biological process

Name Definition
female meiosis I The cell cycle process in which the first meiotic division occurs in the female germline.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9H2S5 RNF39 RING finger protein 39 Homo sapiens (Human) PR
Q86UV7 TRIM73 Tripartite motif-containing protein 73 Homo sapiens (Human) PR
Q86XT4 TRIM50 E3 ubiquitin-protein ligase TRIM50 Homo sapiens (Human) PR
Q6ZMU5 TRIM72 Tripartite motif-containing protein 72 Homo sapiens (Human) PR
Q9UPQ4 TRIM35 E3 ubiquitin-protein ligase TRIM35 Homo sapiens (Human) PR
Q9BZY9 TRIM31 E3 ubiquitin-protein ligase TRIM31 Homo sapiens (Human) PR
Q9C029 TRIM7 E3 ubiquitin-protein ligase TRIM7 Homo sapiens (Human) PR
O15553 MEFV Pyrin Homo sapiens (Human) SS
A6NCK2 TRIM43B Tripartite motif-containing protein 43B Homo sapiens (Human) PR
Q8N9V2 TRIML1 Probable E3 ubiquitin-protein ligase TRIML1 Homo sapiens (Human) PR
P19474 TRIM21 E3 ubiquitin-protein ligase TRIM21 Homo sapiens (Human) PR
Q14142 TRIM14 Tripartite motif-containing protein 14 Homo sapiens (Human) PR
Q5EBN2 TRIM61 Putative tripartite motif-containing protein 61 Homo sapiens (Human) PR
10 20 30 40 50 60
MAVAAALTGL QAEAKCSICL DYLSDPVTIE CGHNFCRSCI QQSWLDLQEL FPCPVCRHQC
70 80 90 100 110 120
QEGHFRSNTQ LGRMIEIAKL LQSTKSNKRK QEETTLCEKH NQPLSVFCKE DLMVLCPLCT
130 140 150 160 170 180
QPPDHQGHHV RPIEKAAIHY RKRFCSYIQP LKKQLADLQK LISTQSKKPL ELREMVENQR
190 200 210 220 230 240
QELSSEFEHL NQFLDREQQA VLSRLAEEEK DNQQKLSANI TAFSNYSATL KSQLSKVVEL
250 260 270 280 290 300
SELSELELLS QIKIFYESEN ESSPSIFSIH LKRDGCSFPP QYSALQRIIK KFKVEIILDP
310 320 330 340 350 360
ETAHPNLIVS EDKKRVRFTK RKQKVPGFPK RFTVKPVVLG FPYFHSGRHF WEIEVGDKSE
370 380 390 400 410 420
WAIGICKDSL PTKARRPSSA QQECWRIELQ DDGYHAPGAF PTPLLLEVKA RAIGIFLDYE
430 440 450 460
MGEISFYNMA EKSHICTFTD TFTGPLRPYF YVGPDSQPLR ICTGTVCE