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 Q86UZ6

Entry ID Method Resolution Chain Position Source
AF-Q86UZ6-F1 Predicted AlphaFoldDB

482 variants for Q86UZ6

Variant ID(s) Position Change Description Diseaes Association Provenance
CA409759232
RCV000850423
rs1601379733
474 Y>C Marfanoid habitus and intellectual disability [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA9968787
rs559142585
3 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA409792686
rs1239013919
4 R>* No ClinGen
gnomAD
CA9968786
rs770835199
COSM264769
4 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs777833339
CA9968784
5 K>N No ClinGen
ExAC
gnomAD
CA409792654
rs1369803743
7 D>N No ClinGen
gnomAD
CA409792642
rs1323397354
8 M>T No ClinGen
gnomAD
rs2281929
CA9968782
VAR_030629
11 T>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9968781
rs780905603
COSM1029187
11 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs766799392
CA9968778
15 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1180904414
CA409792529
15 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9968774
rs761980826
19 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1204910445
CA409792455
19 R>W No ClinGen
gnomAD
rs776507337
CA409792446
20 E>K No ClinGen
ExAC
gnomAD
rs776507337
CA9968773
20 E>Q No ClinGen
ExAC
gnomAD
rs953567226
CA317537203
23 E>K No ClinGen
Ensembl
TCGA novel 25 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775849449
CA9968770
27 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1400950225
CA409792260
27 H>R No ClinGen
TOPMed
rs535280544
COSM1270726
CA9968768
29 V>I oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA409792092
rs1313371836
34 C>S No ClinGen
gnomAD
CA9968764
rs780627223
35 V>L No ClinGen
ExAC
gnomAD
TCGA novel 40 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409791928
rs1601477189
41 V>G No ClinGen
Ensembl
rs1319229465
CA409791835
44 A>V No ClinGen
TOPMed
rs765734947
CA9968758
48 V>I No ClinGen
ExAC
TOPMed
gnomAD
COSM3770885
CA409790808
rs1277657840
52 S>R pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
rs80157982
CA9968756
52 S>T No ClinGen
ExAC
gnomAD
CA409790756
rs747852233
54 R>C No ClinGen
TOPMed
CA317537170
rs747852233
54 R>S No ClinGen
TOPMed
TCGA novel 57 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775878023
CA9968753
57 K>R No ClinGen
ExAC
gnomAD
rs772379123
CA9968752
58 T>M No ClinGen
ExAC
gnomAD
CA409790549
rs1478516530
63 V>M No ClinGen
TOPMed
rs1031230092
CA317537144
65 K>E No ClinGen
Ensembl
rs1393153061
CA409790503
66 T>M No ClinGen
TOPMed
gnomAD
TCGA novel 67 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs930980266
CA317537124
70 A>T No ClinGen
TOPMed
gnomAD
CA409790408
rs1335890872
71 T>S No ClinGen
TOPMed
CA409790364
rs1420528180
COSM1029186
73 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs757976512
CA9968743
74 H>Y No ClinGen
ExAC
gnomAD
CA409790296
rs1437869948
76 D>N No ClinGen
gnomAD
CA9968741
rs201899346
78 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409790218
rs1336448650
79 T>M No ClinGen
gnomAD
CA409790148
rs1339261409
84 K>E No ClinGen
TOPMed
CA9968738
rs764614380
85 A>T No ClinGen
ExAC
gnomAD
rs756179856
CA9968737
86 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1336372975
CA409790082
88 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs767867438
CA9968735
92 S>T No ClinGen
ExAC
gnomAD
CA9968732
rs774712426
96 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1160750317
CA409790004
96 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1568872878
CA409789978
100 R>S No ClinGen
Ensembl
COSM273483
CA409789954
rs1179036882
104 E>K large_intestine Variant assessed as Somatic; 4.659e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA409789934
rs1253176803
106 M>I No ClinGen
gnomAD
CA409789918
rs1466937183
109 A>T No ClinGen
gnomAD
rs776451515
CA9968729
109 A>V No ClinGen
ExAC
gnomAD
TCGA novel 110 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1349866433
CA409789872
115 T>M No ClinGen
gnomAD
CA9968727
rs746524875
116 D>Y No ClinGen
ExAC
gnomAD
CA317537061
rs968707861
117 I>V No ClinGen
TOPMed
gnomAD
CA409789822
rs1320650833
123 D>N No ClinGen
gnomAD
rs1361357151
CA409789793
126 K>N No ClinGen
TOPMed
rs371036990
CA9968724
127 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757611491
CA409789783
128 A>E No ClinGen
ExAC
gnomAD
rs757611491
CA9968722
128 A>V No ClinGen
ExAC
gnomAD
rs1395337663
CA409789778
129 L>P No ClinGen
gnomAD
rs1452161065
CA409789773
130 D>G No ClinGen
gnomAD
rs749625388
CA9968721
130 D>N No ClinGen
ExAC
gnomAD
CA9968720
rs778148097
131 I>V No ClinGen
ExAC
CA9968719
rs756632864
132 S>N No ClinGen
ExAC
gnomAD
CA409789738
rs753244971
135 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1040936949
CA317537040
135 S>P No ClinGen
TOPMed
gnomAD
CA9968718
rs753244971
135 S>W No ClinGen
ExAC
gnomAD
rs1214588107
CA409789733
136 D>G No ClinGen
gnomAD
COSM1233157
rs751781670
CA9968715
137 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA409789717
rs1365745547
139 D>N No ClinGen
gnomAD
CA9968713
rs377387987
142 A>V No ClinGen
ESP
ExAC
gnomAD
CA9968708
rs771610421
145 E>G No ClinGen
ExAC
gnomAD
CA9968709
rs775400060
145 E>K No ClinGen
ExAC
gnomAD
CA409789661
rs773907493
147 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs773907493
CA9968706
147 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1178980433
CA409789654
148 A>G No ClinGen
TOPMed
COSM4137158
CA9968704
rs749629924
148 A>T ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs770281468
CA9968702
149 S>L No ClinGen
ExAC
gnomAD
rs1157034865
CA409789640
151 S>G No ClinGen
TOPMed
rs755134928
CA9968699
153 S>G No ClinGen
ExAC
gnomAD
rs1031680273
CA317536938
153 S>N No ClinGen
Ensembl
rs751613846
COSM193525
CA9968698
154 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409789615
rs751613846
154 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs758586132
CA9968696
155 E>D No ClinGen
ExAC
gnomAD
rs898189731
CA317536906
155 E>K No ClinGen
TOPMed
gnomAD
CA409789606
rs1440665303
156 A>T No ClinGen
TOPMed
rs1310358836
CA409789600
157 L>F No ClinGen
TOPMed
CA409789591
rs1378671308
158 I>T No ClinGen
TOPMed
CA317536894
rs867409896
159 S>L No ClinGen
Ensembl
CA9968692
rs375790108
COSM291443
161 V>M ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9968689
rs370467555
163 A>T No ClinGen
ESP
ExAC
TCGA novel 164 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA317536854
rs1051903940
165 R>K No ClinGen
TOPMed
gnomAD
COSM1191938
rs1051903940
CA409789550
165 R>M central_nervous_system [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs770335741
CA9968687
167 I>F No ClinGen
ExAC
gnomAD
rs1417079872
CA409789522
169 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA409789527
rs1417182909
169 P>S No ClinGen
TOPMed
gnomAD
CA409789509
rs1475525683
171 L>P No ClinGen
gnomAD
CA409789503
rs1187312805
172 A>G No ClinGen
gnomAD
rs1179981713
CA409789505
172 A>S No ClinGen
TOPMed
TCGA novel 172 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748478138
CA409789501
173 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9968682
rs145803796
173 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748478138
CA9968683
173 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 174 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs377385397
CA9968681
175 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780235417
CA9968679
177 P>S No ClinGen
ExAC
gnomAD
rs780235417
CA409789479
177 P>T No ClinGen
ExAC
gnomAD
rs914620437
CA317536791
178 A>T No ClinGen
TOPMed
rs1272642867
CA409789469
179 N>D No ClinGen
Ensembl
rs1293172883
CA409789463
179 N>K No ClinGen
gnomAD
rs1412657641
CA409789466
179 N>S No ClinGen
gnomAD
rs1389999891
CA409789454
180 S>Y No ClinGen
TOPMed
CA9968677
rs750696863
182 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1340661913
CA409789405
183 D>E No ClinGen
TOPMed
rs779084054
CA9968676
184 S>L No ClinGen
ExAC
gnomAD
CA9968674
rs752423049
186 I>V No ClinGen
ExAC
gnomAD
CA9968672
rs759577508
187 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA409789337
rs1162640045
188 S>T No ClinGen
gnomAD
CA9968671
CA9968670
rs375452207
190 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409789272
rs201041138
191 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9968668
rs200051086
191 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs34785134
CA9968666
192 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409789242
rs1186094825
194 S>C No ClinGen
gnomAD
rs769126075
CA9968664
196 Y>C No ClinGen
ExAC
gnomAD
rs1469148993
CA409789212
196 Y>N No ClinGen
TOPMed
gnomAD
CA9968662
CA409789194
rs369078414
197 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374724656
CA317536711
198 K>Q No ClinGen
ESP
TOPMed
gnomAD
CA9968661
rs200136076
199 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA409789149
rs1222644575
199 E>Q No ClinGen
gnomAD
TCGA novel 200 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9968660
rs745886156
200 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs567638687
CA9968659
200 D>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1444611112
CA409789071
201 Q>R No ClinGen
TOPMed
gnomAD
CA409789045
rs1204561840
202 E>A No ClinGen
gnomAD
rs757413756
CA9968658
202 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA409789056
rs1257416952
202 E>K No ClinGen
gnomAD
rs1041360734
CA317536701
204 K>R No ClinGen
Ensembl
rs751567417
CA9968654
206 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766181953
CA9968653
207 G>V No ClinGen
ExAC
gnomAD
rs1310696637
CA409788886
208 P>L No ClinGen
TOPMed
rs1340056791
CA409788895
208 P>S No ClinGen
gnomAD
CA317536684
rs146183314
209 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146183314
CA9968652
209 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9968651
rs146183314
209 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9968650
rs143120688
211 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409788799
rs76488490
213 S>A No ClinGen
TOPMed
CA409788788
rs1252839805
213 S>L No ClinGen
TOPMed
gnomAD
CA317536638
rs76488490
213 S>P No ClinGen
TOPMed
rs764557406
CA9968648
214 Q>H No ClinGen
ExAC
gnomAD
CA9968644
rs776087199
219 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA317536631
rs1050401244
220 D>G No ClinGen
Ensembl
rs372193726
CA9968642
221 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770995395
CA9968640
223 Y>C No ClinGen
ExAC
TOPMed
CA9968641
rs774473549
223 Y>H No ClinGen
ExAC
gnomAD
CA409788552
COSM137225
CA409788549
rs1362612921
224 G>R skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs139874582
CA9968638
224 G>V No ClinGen
ESP
ExAC
TOPMed
CA9968637
rs754827821
225 P>L No ClinGen
ExAC
gnomAD
CA409788505
rs1417765621
226 L>P No ClinGen
gnomAD
CA9968636
rs746744472
COSM1413195
227 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs780050104
CA9968635
227 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1170346702
CA409788477
228 I>T No ClinGen
TOPMed
rs758208346
CA9968634
229 K>N No ClinGen
ExAC
gnomAD
rs1435640442
CA409788450
229 K>R No ClinGen
gnomAD
TCGA novel 232 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 233 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs571117237
CA9968632
233 V>F No ClinGen
1000Genomes
ExAC
gnomAD
COSM1162123
rs569028644
CA317536596
235 P>L kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs369352171
CA317536574
236 S>F No ClinGen
ESP
TOPMed
rs753592213
CA9968630
237 Q>R No ClinGen
ExAC
gnomAD
CA409788214
rs376013890
238 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409788236
rs1259084624
238 Y>N No ClinGen
gnomAD
CA9968628
CA9968627
rs752937242
239 G>R No ClinGen
ExAC
gnomAD
CA409788170
rs1568871268
241 S>T No ClinGen
Ensembl
rs1413583270
CA409788151
242 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1568871236
CA409788135
243 L>M No ClinGen
Ensembl
CA317536557
rs914817469
244 P>L No ClinGen
TOPMed
gnomAD
rs914817469
CA409788111
244 P>R No ClinGen
TOPMed
gnomAD
CA9968624
rs774810767
247 K>E No ClinGen
ExAC
gnomAD
TCGA novel 249 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771050384
CA9968623
249 G>D No ClinGen
ExAC
gnomAD
rs1357277503
CA409788026
249 G>S No ClinGen
gnomAD
rs762973807
CA9968622
250 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs189741977
CA9968621
251 V>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409787983
rs1401800595
251 V>I No ClinGen
TOPMed
gnomAD
CA9968620
rs769845830
253 N>S No ClinGen
ExAC
gnomAD
CA409787797
rs779766833
257 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA9968618
rs779766833
257 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1477160634
CA409787736
259 S>N No ClinGen
gnomAD
rs924131205
CA317536511
259 S>R No ClinGen
Ensembl
CA409787707
rs1369552036
260 A>S No ClinGen
gnomAD
CA409787696
rs1182016059
260 A>V No ClinGen
gnomAD
TCGA novel 261 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 261 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409787534
rs1420579212
266 P>S No ClinGen
gnomAD
rs1188083230
CA409787493
267 T>M No ClinGen
gnomAD
COSM1413194
rs745838266
CA9968616
269 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs778970783
CA9968615
269 R>Q No ClinGen
ExAC
gnomAD
TCGA novel 273 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1480753522
CA409787306
276 K>E No ClinGen
gnomAD
CA9968614
rs756849167
277 E>G No ClinGen
ExAC
gnomAD
CA409787230
rs1601474414
278 T>P No ClinGen
Ensembl
CA9968612
rs368151567
279 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409787162
rs1451275959
280 R>Q No ClinGen
gnomAD
CA9968611
rs755780404
280 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA9968609
rs767812969
281 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376320552
CA9968608
284 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766834328
CA9968606
285 Q>H No ClinGen
ExAC
gnomAD
CA409786935
rs1226406776
286 V>M No ClinGen
gnomAD
rs1342992958
CA409786862
287 E>D No ClinGen
TOPMed
CA317536487
rs760117841
287 E>K No ClinGen
Ensembl
rs1358135082
CA409786824
288 D>V No ClinGen
gnomAD
rs762003940
CA9968602
290 S>R No ClinGen
ExAC
gnomAD
CA9968600
rs772039287
291 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9968601
rs776879246
291 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA9968598
rs779024133
292 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1273553254
CA409786703
293 S>R No ClinGen
gnomAD
rs1209205319
COSM1413193
CA409786698
293 S>T large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1302343373
CA409786663
294 S>F No ClinGen
TOPMed
rs770925142
CA9968597
295 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA409786637
rs770925142
295 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs973903496
CA317536467
296 V>M No ClinGen
TOPMed
CA409786584
rs1241201014
297 P>L No ClinGen
TOPMed
gnomAD
CA409786546
rs1308737369
299 F>Y No ClinGen
gnomAD
rs568344981
CA317536466
301 P>L No ClinGen
gnomAD
rs1444810517
CA409786468
301 P>S No ClinGen
TOPMed
gnomAD
rs755620307
CA317536465
302 T>K No ClinGen
ExAC
gnomAD
rs755620307
CA9968594
302 T>M No ClinGen
ExAC
gnomAD
CA9968592
rs780850554
303 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA409786371
rs1568870712
304 G>A No ClinGen
Ensembl
rs1453797522
CA409786389
304 G>R No ClinGen
gnomAD
CA317536441
rs955236778
305 W>R No ClinGen
TOPMed
gnomAD
CA9968590
rs572744269
306 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9968589
rs572744269
306 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409786316
rs1455284130
306 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9968587
rs750939979
307 F>L No ClinGen
ExAC
gnomAD
CA9968586
rs372709020
309 S>N No ClinGen
ESP
ExAC
gnomAD
CA317536425
rs367796887
310 R>G No ClinGen
ESP
TOPMed
gnomAD
rs761933725
CA9968585
COSM724739
310 R>Q lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs776743072
CA9968584
311 D>N No ClinGen
ExAC
gnomAD
CA409786110
rs1459864704
312 S>T No ClinGen
TOPMed
rs1304640656
CA409786048
313 N>D No ClinGen
gnomAD
CA9968555
rs768146779
313 N>S No ClinGen
ExAC
gnomAD
rs1209735786
CA409777755
314 A>T No ClinGen
gnomAD
COSM1029180
CA9968554
rs370264129
314 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9968553
rs779661088
315 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA9968550
rs779293573
318 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs754383826
CA9968548
320 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9968547
rs778039092
321 A>S No ClinGen
ExAC
gnomAD
CA409777516
rs1355859527
321 A>V No ClinGen
gnomAD
CA9968546
rs138883147
322 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409777512
TCGA novel
rs138883147
322 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
TOPMed
gnomAD
NCI-TCGA
rs752989573
CA9968545
323 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs767805805
CA9968544
323 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs750171292
CA9968542
325 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs750171292
CA409777406
325 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA317525617
rs960489909
326 S>G No ClinGen
TOPMed
gnomAD
CA317525604
rs1049727656
327 R>Q No ClinGen
TOPMed
gnomAD
TCGA novel 332 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9968537
rs146382366
332 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs532051172
CA9968536
333 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA317525585
rs947472404
334 Y>H No ClinGen
gnomAD
rs771691203
CA9968535
335 A>S No ClinGen
ExAC
CA409777096
rs1322837001
335 A>V No ClinGen
gnomAD
CA9968534
rs746233351
336 Q>R No ClinGen
ExAC
gnomAD
rs1226050957
CA409777069
337 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9968533
rs779392769
339 E>K No ClinGen
ExAC
gnomAD
CA317525560
rs1053284443
341 L>I No ClinGen
gnomAD
rs1374433545
CA409776916
343 G>A No ClinGen
gnomAD
rs771196096
CA9968532
344 G>E No ClinGen
ExAC
gnomAD
rs1327670943
CA409776910
344 G>R No ClinGen
TOPMed
gnomAD
rs563024650
CA9968531
346 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778374383
CA9968530
346 A>V No ClinGen
ExAC
rs143804321
CA409776801
347 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143804321
CA9968529
347 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752756525
CA9968528
348 Y>S No ClinGen
ExAC
gnomAD
CA409776693
rs1439313913
352 P>T No ClinGen
gnomAD
COSM3693715
rs1249357017
CA409776671
353 L>I large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA409776657
rs1482572829
353 L>P No ClinGen
TOPMed
rs765116319
CA9968524
354 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs765116319
CA9968523
354 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs755282623
CA9968525
354 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA409776639
rs761577744
355 P>A No ClinGen
ExAC
gnomAD
rs761577744
CA9968522
355 P>S No ClinGen
ExAC
gnomAD
CA317525480
rs779513472
356 E>Q No ClinGen
Ensembl
rs1318246221
CA409776550
358 D>N No ClinGen
gnomAD
rs1239071162
CA409776536
359 D>H No ClinGen
gnomAD
rs1239071162
CA409776532
359 D>N No ClinGen
gnomAD
rs969351181
CA317525463
360 A>T No ClinGen
TOPMed
rs771470160
CA9968517
364 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA9968519
rs760183818
364 A>T No ClinGen
ExAC
gnomAD
CA9968518
rs771470160
364 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA409776394
rs1414033115
365 T>I No ClinGen
gnomAD
rs773852418
CA9968515
366 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs773852418
CA409776391
366 A>T No ClinGen
ExAC
TOPMed
gnomAD
COSM1029179
rs749061407
CA9968514
366 A>V Variant assessed as Somatic; 4.652e-05 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA317525405
rs199760343
368 A>D No ClinGen
1000Genomes
CA409776333
rs1159315215
369 N>S No ClinGen
TOPMed
gnomAD
rs1419343686
CA409776327
370 L>M No ClinGen
gnomAD
rs778427246
CA9968512
371 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1568855112
CA409776285
372 A>E No ClinGen
Ensembl
rs150437727
CA9968510
372 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150437727
CA409776294
372 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9968509
rs150437727
372 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754977085
CA9968508
373 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9968507
rs747309768
374 L>P No ClinGen
ExAC
gnomAD
TCGA novel 376 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409776176
rs1263349069
377 K>N No ClinGen
gnomAD
rs757077443
CA9968506
378 N>K No ClinGen
ExAC
gnomAD
rs1014723203
CA317525318
381 L>P No ClinGen
TOPMed
CA409776099
rs1568854995
382 S>L No ClinGen
Ensembl
rs758920988
CA317525293
386 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs767094923
COSM1413190
CA9968500
386 D>N large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1399435383
CA409775981
388 L>P No ClinGen
gnomAD
rs373564821
CA9968498
388 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409775963
rs1388902018
389 G>E No ClinGen
TOPMed
rs773767780
CA9968495
391 D>A No ClinGen
ExAC
gnomAD
CA409775896
rs1479098887
392 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1174385091
CA409775903
392 G>S No ClinGen
gnomAD
CA317525262
rs971905659
394 L>P No ClinGen
gnomAD
CA409775836
rs1365323799
395 L>V No ClinGen
TOPMed
CA9968492
rs377451070
396 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs965837850
CA317525243
397 E>K No ClinGen
TOPMed
rs1482722678
CA409775766
399 L>V No ClinGen
TOPMed
gnomAD
rs1254043299
CA409775744
401 R>K No ClinGen
gnomAD
TCGA novel 403 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409775695
rs1262699006
404 H>P No ClinGen
TOPMed
CA409775687
rs1601441322
405 S>A No ClinGen
Ensembl
CA409764514
rs1414391061
409 N>S No ClinGen
TOPMed
CA409764518
rs1414391061
409 N>T No ClinGen
TOPMed
CA317505259
rs945680748
410 E>G No ClinGen
TOPMed
rs970452525
CA317505247
415 R>K No ClinGen
TOPMed
gnomAD
rs561151958
CA9968459
416 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1601393344
CA409764224
419 K>E No ClinGen
Ensembl
CA409764150
rs1354668166
421 P>L No ClinGen
gnomAD
TCGA novel 421 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762247822
CA9968456
422 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs762247822
CA9968455
422 Y>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 426 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1228926199
CA409763967
427 A>V No ClinGen
TOPMed
rs1290036691
CA409763769
434 K>R No ClinGen
gnomAD
TCGA novel 436 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 444 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774559776
CA9968447
450 I>V No ClinGen
ExAC
gnomAD
TCGA novel 452 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1615882
CA409763179
rs1347626644
456 T>M liver [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 457 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1233226689
CA409763053
461 M>V No ClinGen
gnomAD
TCGA novel 463 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 463 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1166888008
CA409762812
466 L>R No ClinGen
gnomAD
rs1443010262
CA409759313
471 D>G No ClinGen
gnomAD
rs1443010262
CA409759309
471 D>V No ClinGen
gnomAD
CA409759237
rs1601379734
474 Y>D No ClinGen
Ensembl
CA9968404
rs767852736
475 V>M No ClinGen
ExAC
gnomAD
TCGA novel 476 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409759086
rs1404697448
480 S>N No ClinGen
TOPMed
CA317502464
rs973429591
481 R>C No ClinGen
TOPMed
gnomAD
CA409759056
rs1288522628
481 R>H No ClinGen
TOPMed
gnomAD
rs1355331630
CA409759042
482 V>I No ClinGen
TOPMed
gnomAD
CA317502450
rs914269908
486 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9968398
rs201024684
487 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs775485617
CA317502409
488 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs771992088
CA9968395
489 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA9968392
rs770370421
492 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs770370421
CA409758702
492 R>M No ClinGen
ExAC
TOPMed
gnomAD
CA9968390
rs777303570
497 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1245638275
CA409758538
497 R>H No ClinGen
TOPMed
gnomAD
rs1174135550
CA409758499
499 G>S No ClinGen
TOPMed
rs755309697
CA9968386
503 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs781576028
CA9968387
503 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA9968385
rs752079427
505 A>T No ClinGen
ExAC
gnomAD
rs1366751053
CA409758284
506 G>D No ClinGen
gnomAD
rs756039613
CA9968382
507 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1362717741
CA409758247
507 R>H No ClinGen
TOPMed
gnomAD
rs376393528
COSM1413189
CA9968380
508 G>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376393528
CA9968379
508 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376393528
CA9968378
508 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409758183
rs1343859857
510 A>T No ClinGen
gnomAD
CA9968376
rs560993615
CA9968377
511 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 512 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770842965
CA9968375
512 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA409757991
rs1568822670
516 G>V No ClinGen
Ensembl
rs202051760
CA9968372
517 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409757961
rs1210480636
518 G>A No ClinGen
gnomAD
rs148555106
CA409757966
CA9968370
518 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA317502344
rs139827825
520 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
rs759004681
CA9968366
521 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1381876271
CA409757806
522 G>A No ClinGen
TOPMed
gnomAD
rs1039263506
CA317502305
522 G>C No ClinGen
TOPMed
rs750893784
CA9968365
523 S>F No ClinGen
ExAC
gnomAD
CA409757764
rs1304989666
524 P>R No ClinGen
TOPMed
gnomAD
rs779093269
CA9968364
526 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372390018
CA9968362
527 L>R No ClinGen
ESP
ExAC
gnomAD
rs764373003
CA9968361
529 P>S No ClinGen
ExAC
gnomAD
CA9968359
rs751427133
531 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA409757564
rs1238455797
532 G>E No ClinGen
TOPMed
CA9968357
rs762988227
532 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1482834239
CA409757544
533 P>L No ClinGen
gnomAD
CA409757490
rs1261016243
535 L>P No ClinGen
gnomAD
rs1200512753
CA409757470
536 E>G No ClinGen
gnomAD
CA9968356
rs769312528
537 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA317502270
rs746141455
537 D>N No ClinGen
Ensembl
CA9968354
rs761268813
538 P>L No ClinGen
ExAC
gnomAD
CA409757418
rs928283523
538 P>S No ClinGen
TOPMed
gnomAD
rs928283523
CA317502259
538 P>T No ClinGen
TOPMed
gnomAD
rs1601378841
CA409757384
539 E>Q No ClinGen
Ensembl
rs1290756472
CA409757357
540 D>H No ClinGen
TOPMed
CA409757356
rs1290756472
540 D>Y No ClinGen
TOPMed
rs1029480379
CA317502253
541 P>L No ClinGen
gnomAD
rs768236929
CA9968352
542 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9968351
rs746631749
542 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1179436266
CA409757273
543 G>E No ClinGen
gnomAD
CA9968350
rs149916239
543 G>R No ClinGen
ESP
ExAC
gnomAD
CA409757274
rs149916239
543 G>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs139093108
CA9968349
545 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9968347
rs757444968
546 E>D No ClinGen
ExAC
gnomAD
CA409757167
rs1369770671
547 E>K No ClinGen
TOPMed
rs752830911
CA9968342
550 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs200784759
CA409757042
551 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1241054992
CA409757057
551 D>G No ClinGen
gnomAD
CA9968341
rs766244639
551 D>Y No ClinGen
ExAC
gnomAD
rs1337573539 552 D>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA9968337
rs141237065
552 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9968339
rs574717418
552 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA409756988
rs1193979001
553 E>K No ClinGen
TOPMed
gnomAD
rs1244040570
CA409756880
555 L>P No ClinGen
TOPMed
rs1313385337
CA409756858
556 A>D No ClinGen
gnomAD
CA9968335
rs763592791
558 E>G No ClinGen
ExAC
gnomAD
CA317502214
rs576880387
559 D>H No ClinGen
Ensembl
CA409756739
rs576880387
559 D>N No ClinGen
Ensembl
COSM724741
CA9968334
rs760419289
560 A>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9968332
rs772510202
561 L>P No ClinGen
ExAC
gnomAD
CA409756620
rs746178681
563 A>E No ClinGen
ExAC
gnomAD
rs746178681
CA9968331
563 A>V No ClinGen
ExAC
gnomAD
rs931172869
CA409756581
564 D>E No ClinGen
TOPMed
gnomAD
CA9968329
rs771507951
564 D>G No ClinGen
ExAC
gnomAD
CA409756609
rs1440129574
564 D>N No ClinGen
gnomAD
rs778037131
CA9968327
565 D>A No ClinGen
ExAC
gnomAD
COSM390190
rs368761209
CA9968328
565 D>N lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1385274109
CA409756548
566 K>E No ClinGen
TOPMed
gnomAD
CA9968325
rs748423594
567 D>V No ClinGen
ExAC
gnomAD
rs369691406
CA317502166
569 E>* No ClinGen
TOPMed
gnomAD
CA409756373
rs1327691482
569 E>D No ClinGen
gnomAD
rs1555834996
CA9968322
569 E>G No ClinGen
Ensembl
rs369691406
CA409756414
569 E>K No ClinGen
TOPMed
gnomAD
CA409756344
rs1461919044
570 D>E No ClinGen
TOPMed
rs1173013888
CA409756351
570 D>G No ClinGen
TOPMed
rs143711926
CA9968320
571 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9968317
rs201848046
572 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9968318
rs201848046
572 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200624508
CA9968315
573 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1363141728
CA409756315
573 R>W No ClinGen
TOPMed
gnomAD
CA9968313
rs775240676
574 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9968314
rs775240676
574 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs774914937
CA9968311
575 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs774914937
CA9968310
575 R>G No ClinGen
ExAC
gnomAD
rs771389256
CA9968309
575 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1264970204
CA409756268
576 S>R No ClinGen
TOPMed
CA409756243
rs749859657
577 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA9968307
rs549784698
577 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs749859657
CA9968308
577 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1266828449
CA409756229
578 P>A No ClinGen
gnomAD
rs536518455
CA317502121
578 P>L No ClinGen
1000Genomes
TOPMed
gnomAD
rs536518455
CA409756218
578 P>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA409756167
rs1447737572
580 G>D No ClinGen
gnomAD
rs1447737572
CA409756160
580 G>V No ClinGen
gnomAD
rs1465982672
CA409756112
582 D>H No ClinGen
TOPMed
CA409756082
rs1184484251
583 K>E No ClinGen
TOPMed
rs747229921
CA409755961
586 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs747229921
CA9968302
586 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs747229921
CA9968301
586 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9968300
rs778722251
586 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1389558798
CA409755938
587 W>R No ClinGen
TOPMed
rs757028105
CA9968299
588 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA409755899
rs757028105
588 L>I No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q86UZ6

8 regional properties for Q86UZ6

Type Name Position InterPro Accession
domain Krueppel-associated box 225 - 285 IPR001909
domain SCAN domain 52 - 162 IPR003309
domain Zinc finger C2H2-type 375 - 402 IPR013087-1
domain Zinc finger C2H2-type 403 - 430 IPR013087-2
domain Zinc finger C2H2-type 431 - 458 IPR013087-3
domain Zinc finger C2H2-type 459 - 486 IPR013087-4
domain Zinc finger C2H2-type 487 - 514 IPR013087-5
domain Zinc finger C2H2-type 515 - 542 IPR013087-6

Functions

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

2 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

5 GO annotations of molecular function

Name Definition
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription repressor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding Binding to a metal ion.
RNA polymerase II transcription regulatory region sequence-specific DNA binding Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
transcription cis-regulatory region binding Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

11 GO annotations of biological process

Name Definition
granulocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils.
macrophage differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage.
negative regulation of dendritic cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation.
negative regulation of granulocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation.
negative regulation of leukocyte activation Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation.
negative regulation of macrophage differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation.
negative regulation of monocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
plasmacytoid dendritic cell differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a plasmacytoid dendritic cell.
positive regulation of dendritic cell differentiation Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

177 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
P08151 GLI1 Zinc finger protein GLI1 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q8IZM8 ZNF654 Zinc finger protein 654 Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q9Y4E5 ZNF451 E3 SUMO-protein ligase ZNF451 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MNNRKEDMEI TSHYRHLLRE LNEQRQHGVL CDVCVVVEGK VFKAHKNVLL GSSRYFKTLY
70 80 90 100 110 120
CQVQKTSEQA TVTHLDIVTA QGFKAIIDFM YSAHLALTSR NVIEVMSAAS FLQMTDIVQA
130 140 150 160 170 180
CHDFIKAALD ISIKSDASDE LAEFEIGASS SSSTEALISA VMAGRSISPW LARRTSPANS
190 200 210 220 230 240
SGDSAIASCH DGGSSYGKED QEPKADGPDD VSSQPLWPGD VGYGPLRIKE EQVSPSQYGG
250 260 270 280 290 300
SELPSAKDGA VQNSFSEQSA GDAWQPTGRR KNRKNKETVR HITQQVEDDS RASSPVPSFL
310 320 330 340 350 360
PTSGWPFSSR DSNADLSVTE ASSSDSRGER AELYAQVEEG LLGGEASYLG PPLTPEKDDA
370 380 390 400 410 420
LHQATAVANL RAALMSKNSL LSLKADVLGD DGSLLFEYLP RGAHSLSLNE FTVIRKKFKC
430 440 450 460 470 480
PYCSFSAMHQ CILKRHMRSH TGERPYPCEI CGKKFTRREH MKRHTLVHSK DKKYVCKVCS
490 500 510 520 530 540
RVFMSAASVG IRHGSRRHGV CTDCAGRGMA GPLDHGGGGG EGSPEALFPG DGPYLEDPED
550 560 570 580
PRGEAEELGE DDEGLAPEDA LLADDKDEED SPRPRSPPGG PDKDFAWLS