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 Q96GY0

Entry ID Method Resolution Chain Position Source
AF-Q96GY0-F1 Predicted AlphaFoldDB

278 variants for Q96GY0

Variant ID(s) Position Change Description Diseaes Association Provenance
rs898680595
CA180189459
2 E>A No ClinGen
TOPMed
gnomAD
rs1433340531
CA371560559
2 E>Q No ClinGen
TOPMed
rs764372475
CA371560568
3 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs764372475
CA4788895
3 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs139794142
CA4788896
4 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1471149029
CA371560579
5 E>D No ClinGen
gnomAD
rs1010212735
CA371560574
5 E>K No ClinGen
TOPMed
gnomAD
rs1010212735
CA180189460
5 E>Q No ClinGen
TOPMed
gnomAD
rs901730759
CA371560803
CA180190518
6 E>D No ClinGen
TOPMed
gnomAD
rs762292847
CA4788897
6 E>Q No ClinGen
ExAC
gnomAD
rs939813919
CA180190520
7 N>S No ClinGen
Ensembl
CA180190519
rs997451545
7 N>Y No ClinGen
TOPMed
rs763567351
CA4788919
8 G>V No ClinGen
ExAC
gnomAD
CA371560832
rs1427392614
9 G>D No ClinGen
gnomAD
rs1212893275
CA371560837
10 V>I No ClinGen
gnomAD
CA4788921
rs370653445
12 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200718109
CA180190521
13 V>A No ClinGen
1000Genomes
TCGA novel 15 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1477363243
CA371560891
15 E>K No ClinGen
TOPMed
gnomAD
CA371560912
rs1194178239
16 L>F No ClinGen
gnomAD
CA371560906
rs1392015528
16 L>S No ClinGen
TOPMed
CA371560918
rs1477099319
17 L>S No ClinGen
TOPMed
gnomAD
TCGA novel 18 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA180190522
rs1036921787
18 P>L No ClinGen
Ensembl
TCGA novel 18 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 20 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4788923
rs767612703
20 K>R No ClinGen
ExAC
gnomAD
CA4788924
rs753007013
23 G>E No ClinGen
ExAC
gnomAD
CA371560990
rs1437169014
23 G>R No ClinGen
TOPMed
gnomAD
CA4788925
rs755827437
25 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA4788927
rs753704751
28 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs753704751
CA4788928
28 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1273770277
CA371561062
29 V>E No ClinGen
gnomAD
CA371561068
rs1347963459
30 A>T No ClinGen
gnomAD
TCGA novel
rs1420259001
CA371561211
33 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
rs779628800
CA4788949
33 K>T No ClinGen
ExAC
gnomAD
TCGA novel 35 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371561252
rs1410306123
39 Q>R No ClinGen
TOPMed
CA4788954
rs771464722
43 T>A No ClinGen
ExAC
gnomAD
rs538818172
CA4788956
43 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4788955
rs771464722
43 T>P No ClinGen
ExAC
gnomAD
CA4788957
rs771991442
44 K>E No ClinGen
ExAC
gnomAD
TCGA novel 45 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201638521
CA180190820
46 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs201638521
CA4788959
46 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs143922654
CA4788958
46 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA371561299
rs1309042394
47 K>R No ClinGen
gnomAD
rs151313589
CA371561316
49 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA371561322
rs1268027183
50 D>G No ClinGen
gnomAD
rs1274078756
CA371561318
50 D>N No ClinGen
gnomAD
rs776875828
CA4788961
53 R>K No ClinGen
ExAC
gnomAD
CA371561365
rs1205736267
56 A>G No ClinGen
TOPMed
rs1257552994
CA371561361
56 A>T No ClinGen
gnomAD
TCGA novel 56 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371561391
rs1202733283
60 D>G No ClinGen
gnomAD
rs761554974
CA4788962
61 I>T No ClinGen
ExAC
gnomAD
CA4788964
rs750302785
62 P>L No ClinGen
ExAC
gnomAD
CA371561402
rs1254602963
62 P>S No ClinGen
gnomAD
CA4788965
rs758360240
63 T>R No ClinGen
ExAC
gnomAD
CA4788966
rs139362657
66 P>L No ClinGen
ESP
ExAC
gnomAD
rs751067311
CA4788968
67 L>I No ClinGen
ExAC
rs780961934
CA4788971
68 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 68 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372195442
CA4788972
69 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371561445
rs372195442
69 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371561449
rs1412338111
70 R>K No ClinGen
gnomAD
rs759047775
CA4788998
71 P>S No ClinGen
ExAC
gnomAD
CA371559883
rs759047775
71 P>T No ClinGen
ExAC
gnomAD
CA371559894
rs1409614805
72 E>D No ClinGen
TOPMed
rs1349424260
CA371559897
73 P>A No ClinGen
TOPMed
CA371559903
rs1216524801
74 P>A No ClinGen
gnomAD
CA4788999
rs767161730
74 P>Q No ClinGen
ExAC
gnomAD
rs752341988
CA4789000
76 K>E No ClinGen
ExAC
gnomAD
rs777639391
CA4789002
77 P>L No ClinGen
ExAC
gnomAD
CA4789001
rs755837884
77 P>T No ClinGen
ExAC
gnomAD
CA371559951
rs1241182299
81 R>K No ClinGen
gnomAD
CA180191724
rs907607851
82 R>G No ClinGen
gnomAD
CA4789003
rs750774583
82 R>T No ClinGen
ExAC
TCGA novel 85 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs970757635
CA180191725
86 E>Q No ClinGen
TOPMed
rs1431370389
CA371559994
87 F>L No ClinGen
TOPMed
rs1235994926
CA371560004
88 I>T No ClinGen
gnomAD
rs780566556
CA4789005
89 A>T No ClinGen
ExAC
gnomAD
rs747490567
CA4789006
90 T>I No ClinGen
ExAC
gnomAD
rs1472138074
CA371560018
91 I>V No ClinGen
TOPMed
CA180191726
rs1040233560
92 R>K No ClinGen
Ensembl
rs150032736
CA4789007
94 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781253947
CA4789008
96 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1438650947
CA371560062
98 D>N No ClinGen
TOPMed
CA371560068
rs1178359896
99 Q>E No ClinGen
Ensembl
TCGA novel 99 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 100 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371560099
rs1198827290
103 E>G No ClinGen
TOPMed
rs1433232139
CA371560105
104 G>R No ClinGen
TOPMed
gnomAD
rs1433232139
CA371560104
104 G>S No ClinGen
TOPMed
gnomAD
CA371560120
rs1370358952
106 K>R No ClinGen
gnomAD
CA371560119
rs1370358952
COSM3835046
106 K>T Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA4789015
rs770664830
109 P>S No ClinGen
ExAC
gnomAD
CA4789016
rs774298819
110 P>L No ClinGen
ExAC
gnomAD
rs1050746454
CA180191727
110 P>S No ClinGen
Ensembl
rs1290638849
CA371560152
112 P>A No ClinGen
TOPMed
rs893160696
CA180191728
112 P>L No ClinGen
gnomAD
rs879262449
CA180191729
113 P>L No ClinGen
Ensembl
CA4789018
rs767072106
113 P>S No ClinGen
ExAC
gnomAD
CA4789020
rs145287590
117 P>S No ClinGen
ESP
ExAC
gnomAD
CA371560202
rs1167369115
118 D>G No ClinGen
gnomAD
rs753236294
CA4789047
121 Q>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4789049
rs777730540
122 C>S No ClinGen
ExAC
gnomAD
rs749463362
CA4789050
123 P>S No ClinGen
ExAC
gnomAD
CA4789052
rs779257641
126 Q>K No ClinGen
ExAC
CA371560283
rs1434157046
129 F>L No ClinGen
gnomAD
rs142420326
CA4789053
130 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 131 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1233582921
CA371560314
134 A>T No ClinGen
gnomAD
rs146492124
CA4789054
135 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371560327
rs1336884582
136 R>G No ClinGen
gnomAD
rs775516268
CA4789055
138 I>M No ClinGen
ExAC
gnomAD
CA371560351
rs1208603793
139 N>T No ClinGen
gnomAD
CA371560382
rs1485869868
143 E>Q No ClinGen
gnomAD
CA371560390
rs1428005701
144 Q>* No ClinGen
gnomAD
rs768143827
CA4789057
145 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1475136497
CA371560408
147 R>C No ClinGen
gnomAD
rs761443209
CA4789059
147 R>H No ClinGen
ExAC
gnomAD
CA4789060
rs147883140
148 I>L No ClinGen
ESP
ExAC
TOPMed
rs772891311
CA4789061
149 S>G No ClinGen
ExAC
gnomAD
rs141497872
CA4789062
149 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs17850447
VAR_031102
CA180192029
156 T>A No ClinGen
UniProt
Ensembl
dbSNP
rs146184464
CA4789064
156 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1416936620
CA371560481
158 T>A No ClinGen
TOPMed
gnomAD
CA4789066
rs764732047
158 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs764732047
CA371560483
158 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1324270053
CA371560495
160 G>R No ClinGen
gnomAD
rs200110247
CA4789068
163 T>I No ClinGen
ExAC
TOPMed
CA4789067
rs148270750
163 T>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4789070
rs200872378
165 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373208347
CA4789069
165 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs574401853
CA180192030
CA4789073
168 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1024344667
CA180192899
COSM3721707
169 Y>C upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
CA4789090
rs150344275
171 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4789092
rs751288773
172 P>L No ClinGen
ExAC
gnomAD
CA371560617
rs1390338258
172 P>S No ClinGen
gnomAD
rs138000597
CA4789094
173 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138000597
CA4789095
COSM196945
173 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1304707439
CA371560625
174 L>F No ClinGen
gnomAD
rs368633779
CA4789097
174 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1262738102
CA371560639
176 K>Q No ClinGen
gnomAD
rs930890359
CA180192900
177 S>P No ClinGen
TOPMed
CA180192901
rs776838149
178 N>D No ClinGen
Ensembl
rs760921799
CA4789101
179 S>F No ClinGen
ExAC
gnomAD
rs200096220
CA4789100
179 S>P No ClinGen
ExAC
TOPMed
gnomAD
COSM3779372
CA4789102
rs769083996
180 P>A Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA371560664
rs1366664604
180 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA371560662
rs769083996
180 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA371560668
rs1194602345
181 G>* No ClinGen
gnomAD
rs1250351364
CA371560671
181 G>V No ClinGen
gnomAD
rs776941860
CA4789103
182 T>A No ClinGen
ExAC
gnomAD
rs936698882
CA180192902
183 A>S No ClinGen
gnomAD
rs1416099361
CA371560681
183 A>V No ClinGen
gnomAD
CA371560704
rs1163740902
187 S>C No ClinGen
gnomAD
rs1563632409
CA371560700
187 S>T No ClinGen
Ensembl
CA371560711
rs1277775364
188 S>L No ClinGen
TOPMed
CA4789105
rs371962432
189 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4789106
rs765908988
191 P>L No ClinGen
ExAC
gnomAD
rs765908988
CA371560726
191 P>Q No ClinGen
ExAC
gnomAD
CA371560745
rs1391875317
194 S>N No ClinGen
TOPMed
gnomAD
rs914163193
CA180192904
195 G>V No ClinGen
Ensembl
rs201671046
CA180192905
196 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201671046
CA4789110
196 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201671046
CA4789109
196 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA180192906
rs944859318
196 A>V No ClinGen
TOPMed
rs867047499
CA180192907
197 G>D No ClinGen
Ensembl
rs761256249
CA4789111
199 T>A No ClinGen
ExAC
gnomAD
CA4789112
rs781044570
200 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1447050682
CA371560784
201 V>A No ClinGen
TOPMed
TCGA novel 202 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371560821
rs1458103060
202 G>V No ClinGen
TOPMed
gnomAD
CA4789131
rs752530643
205 S>L No ClinGen
ExAC
gnomAD
CA4789132
rs755939375
207 K>E No ClinGen
ExAC
gnomAD
CA4789133
rs755939375
207 K>Q No ClinGen
ExAC
gnomAD
CA371560893
rs1301908806
208 V>M No ClinGen
gnomAD
rs1370971115
CA371560919
209 S>F No ClinGen
TOPMed
gnomAD
rs142471753
CA4789134
210 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1308829728
CA371560944
211 S>N No ClinGen
TOPMed
rs1387170954
CA371561024
216 G>A No ClinGen
TOPMed
gnomAD
CA4789135
rs372896908
216 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1259715402
CA371561071
219 L>R No ClinGen
TOPMed
gnomAD
CA4789136
rs778502446
221 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA371561101
rs778502446
221 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1054283
CA371561108
222 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779614896
CA4789139
223 S>F No ClinGen
ExAC
gnomAD
CA4789140
rs748502580
224 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA180193012
rs893618094
228 G>R No ClinGen
Ensembl
CA4789141
rs770305802
229 I>T No ClinGen
ExAC
gnomAD
rs773815079
CA4789142
231 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA180193013
rs917551483
231 A>V No ClinGen
TOPMed
gnomAD
rs1345959075
CA371561167
232 P>L No ClinGen
gnomAD
TCGA novel 233 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4789144
rs375835069
234 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371561176
rs375835069
234 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4789145
rs376000246
234 A>V No ClinGen
ESP
ExAC
gnomAD
rs946923379
CA180194657
237 N>I No ClinGen
TOPMed
rs375752713
CA4789168
238 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371561488
rs1454058399
239 K>I No ClinGen
TOPMed
rs370156121
CA180194658
240 P>H No ClinGen
ESP
gnomAD
rs923645398
CA180194659
241 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs775645554
CA4789170
241 R>Q No ClinGen
ExAC
gnomAD
CA371561499
rs1298279505
242 N>H No ClinGen
gnomAD
rs374049698
CA371561506
242 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1430207737
CA371561507
243 S>P No ClinGen
Ensembl
CA180194660
rs111436520
244 T>A No ClinGen
Ensembl
CA180194661
rs905468861
244 T>I No ClinGen
TOPMed
CA4789173
rs776409753
246 P>R No ClinGen
ExAC
gnomAD
rs1231959724
CA371561524
246 P>S No ClinGen
gnomAD
CA4789174
rs761638942
247 S>G No ClinGen
ExAC
gnomAD
rs1202415415
CA371561535
248 L>M No ClinGen
gnomAD
CA180194662
rs139814140
252 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4789175
rs139814140
252 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs947886407
CA180194664
253 A>T No ClinGen
Ensembl
TCGA novel 254 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750351449
CA4789176
254 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs868658527
CA180194665
259 N>K No ClinGen
Ensembl
CA371561611
rs1229054678
260 K>R No ClinGen
TOPMed
CA180194667
rs746542150
261 R>K No ClinGen
Ensembl
CA180194669
rs1045115178
262 K>E No ClinGen
Ensembl
CA180194670
rs909283706
263 T>I No ClinGen
Ensembl
CA4789178
rs765810424
264 Y>H No ClinGen
ExAC
gnomAD
rs1016980682
CA180194671
265 T>A No ClinGen
TOPMed
CA371561645
rs1193555438
265 T>I No ClinGen
TOPMed
gnomAD
CA371561653
rs1328461209
266 E>D No ClinGen
TOPMed
rs1378579132
CA371561654
267 S>R No ClinGen
gnomAD
rs1479176834
CA371561679
270 A>S No ClinGen
gnomAD
TCGA novel 271 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371561704
rs1213632198
272 P>S No ClinGen
gnomAD
rs1213632198
CA371561702
272 P>T No ClinGen
gnomAD
rs776890062
CA371561709
273 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs761621155
CA4789191
273 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA4789190
rs776890062
273 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA371561714
rs1408593430
274 G>R No ClinGen
TOPMed
CA371561722
rs1180155040
275 D>Y No ClinGen
gnomAD
rs1363559314
CA371561729
276 C>R No ClinGen
gnomAD
rs77219198
CA371561752
279 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4789195
rs77219198
279 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751109108
CA4789196
280 L>F No ClinGen
ExAC
gnomAD
rs751109108
CA4789197
280 L>V No ClinGen
ExAC
gnomAD
rs767253867
CA4789198
281 N>T No ClinGen
ExAC
gnomAD
CA371561767
rs1400971480
282 G>D No ClinGen
TOPMed
rs1391416856
CA371561766
282 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4789199
rs752417374
285 I>F No ClinGen
ExAC
gnomAD
CA371561788
rs1170447225
285 I>M No ClinGen
TOPMed
CA4789200
rs757598027
285 I>T No ClinGen
ExAC
gnomAD
rs779146262
CA4789201
286 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA4789202
rs750862330
288 I>V No ClinGen
ExAC
gnomAD
CA371561818
rs1429447371
290 G>R No ClinGen
TOPMed
rs1054251539
CA180194899
291 H>R No ClinGen
TOPMed
gnomAD
rs375522431
CA4789203
292 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1234562122
CA371561836
293 P>S No ClinGen
TOPMed
CA371561865
rs1489781720
297 P>R No ClinGen
gnomAD
CA371561863
rs1266075647
297 P>T No ClinGen
gnomAD
CA371561896
rs1441638843
301 H>L No ClinGen
TOPMed
rs780581410
CA371561941
COSM3835047
307 Y>* breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1276766704
CA371561955
310 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1202460819
CA371561982
313 K>R No ClinGen
TOPMed
CA4789207
rs781353383
314 F>L No ClinGen
ExAC
gnomAD
TCGA novel 315 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4789208
rs748322481
316 C>S No ClinGen
ExAC
gnomAD
rs748322481
CA371562004
316 C>Y No ClinGen
ExAC
gnomAD
rs769574487
CA4789209
317 E>D No ClinGen
ExAC
gnomAD
TCGA novel 317 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 317 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4789210
rs772869260
318 C>Y No ClinGen
ExAC
gnomAD
CA4789212
rs770959996
321 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4789213
rs148584360
321 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4789214
rs759065173
322 R>K No ClinGen
ExAC
TCGA novel 323 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4789215
rs767163652
324 I>F No ClinGen
ExAC
gnomAD
rs1563642714
CA371562062
325 L>P No ClinGen
Ensembl
CA4789218
rs763877690
326 L>L No ClinGen
ExAC
TOPMed
gnomAD
rs760234371
CA4789217
326 L>R No ClinGen
ExAC
gnomAD

No associated diseases with Q96GY0

No regional properties for Q96GY0

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96GY0

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

1 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A4FUE7 ZC2HC1A Zinc finger C2HC domain-containing protein 1A Bos taurus (Bovine) PR
Q56XX3 At2g02148 Uncharacterized protein At2g02148 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MEGLEENGGV VQVGELLPCK ICGRTFFPVA LKKHGPICQK TATKKRKTFD SSRQRAEGTD
70 80 90 100 110 120
IPTVKPLKPR PEPPKKPSNW RRKHEEFIAT IRAAKGLDQA LKEGGKLPPP PPPSYDPDYI
130 140 150 160 170 180
QCPYCQRRFN ENAADRHINF CKEQAARISN KGKFSTDTKG KPTSRTQVYK PPALKKSNSP
190 200 210 220 230 240
GTASSGSSRL PQPSGAGKTV VGVPSGKVSS SSSSLGNKLQ TLSPSHKGIA APHAGANVKP
250 260 270 280 290 300
RNSTPPSLAR NPAPGVLTNK RKTYTESYIA RPDGDCASSL NGGNIKGIEG HSPGNLPKFC
310 320
HECGTKYPVE WAKFCCECGI RRMIL