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

4 structures for Q96C24

Entry ID Method Resolution Chain Position Source
2CSZ NMR - A 43-105 PDB
3FDW X-ray 220 A A/B 352-488 PDB
5X6T NMR - A 59-111 PDB
AF-Q96C24-F1 Predicted AlphaFoldDB

355 variants for Q96C24

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10470066
rs770845882
2 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs188841768
CA10470064
3 E>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA413947641
rs1569401232
6 D>N No ClinGen
Ensembl
TCGA novel 8 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 15 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 18 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1440002661
CA413947406
20 S>N No ClinGen
TOPMed
CA333075860
rs1054542770
20 S>R No ClinGen
TOPMed
CA413947348
COSM297781
rs1354556665
24 R>Q large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs757871951
CA10470063
26 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1034853457
CA333075853
27 E>V No ClinGen
TOPMed
CA10470062
rs747639533
28 V>I No ClinGen
ExAC
gnomAD
rs907276950
CA333075842
29 R>Q No ClinGen
TOPMed
gnomAD
rs754688395
CA10470060
29 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs750802165
CA10470059
31 A>V No ClinGen
ExAC
gnomAD
CA413947205
rs1484003229
CA413947206
32 D>E No ClinGen
gnomAD
rs902240182
CA333075826
33 E>D No ClinGen
TOPMed
CA333075823
rs140273472
36 I>F No ClinGen
ESP
TOPMed
gnomAD
rs1339792165
CA413947121
37 R>K No ClinGen
TOPMed
gnomAD
rs770756316
CA10470047
38 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10470046
rs757433666
40 K>T No ClinGen
ExAC
gnomAD
rs187695720
CA10470044
45 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA10470045
rs760809086
45 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs984971149
CA333075665
48 R>K No ClinGen
TOPMed
gnomAD
rs867431936
CA333075652
52 K>R No ClinGen
gnomAD
rs1221822775
CA413946755
53 R>K No ClinGen
TOPMed
gnomAD
rs747634215
CA10470043
54 G>D No ClinGen
ExAC
gnomAD
rs1331294391
CA413946746
54 G>S No ClinGen
gnomAD
CA413946605
rs1417146838
59 S>R No ClinGen
TOPMed
CA413946568
rs1349125465
61 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM3406698
rs151147513
CA10470042
COSM3406699
61 R>W central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201221018
CA10470041
65 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1304978704
CA413946498
65 R>W No ClinGen
TOPMed
gnomAD
rs748987113
CA10470040
68 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1331779348
CA413946396
69 S>R No ClinGen
gnomAD
CA10470039
rs142040580
COSM140901
72 R>C skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSM1126671
rs148610544
CA10470038
72 R>H Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413946320
rs148610544
72 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 73 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1375472413
CA413946286
74 S>N No ClinGen
gnomAD
CA413946133
rs1160802719
81 R>Q No ClinGen
gnomAD
CA10470036
rs764596164
81 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10470032
rs376514435
89 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10470034
rs765370816
89 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10470030
rs766615479
92 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs760447949
CA10470029
92 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA413945874
rs1315668006
93 I>K No ClinGen
gnomAD
rs759492462
CA10470028
93 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759492462
CA333075571
93 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1300548255
CA413945782
97 N>S No ClinGen
TOPMed
rs1315431601
CA413945766
98 G>S No ClinGen
gnomAD
rs868444355
CA333075562
99 T>I No ClinGen
Ensembl
TCGA novel 100 W>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1346545849
CA413945633
103 K>E No ClinGen
TOPMed
rs1229308793
CA413945612
103 K>N No ClinGen
TOPMed
gnomAD
rs761721670
CA10470026
106 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413945550
rs1436858943
106 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10470016
rs778945156
109 I>M No ClinGen
ExAC
gnomAD
TCGA novel 110 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10470015
rs755005339
115 T>I No ClinGen
ExAC
gnomAD
rs1461688224
CA413945288
117 D>Y No ClinGen
TOPMed
CA413945233
rs1294442024
118 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs766561436
CA10470013
120 Y>C No ClinGen
ExAC
gnomAD
rs760860818
CA10470012
123 K>T No ClinGen
ExAC
gnomAD
TCGA novel 124 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10470010
rs767254640
126 R>C No ClinGen
ExAC
gnomAD
CA10470011
rs767254640
126 R>G No ClinGen
ExAC
gnomAD
rs1457368761
CA413945042
126 R>L No ClinGen
gnomAD
CA10470009
rs761786623
130 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs368733554
CA10470008
130 R>H No ClinGen
ESP
ExAC
gnomAD
CA10470007
rs768745774
131 T>I No ClinGen
ExAC
gnomAD
rs1391082178
CA413944916
132 G>D No ClinGen
gnomAD
rs144860789
CA333075428
137 R>T No ClinGen
ESP
rs1205958866
CA413944789
138 M>I No ClinGen
gnomAD
rs974426994
CA333075416
140 L>V No ClinGen
Ensembl
CA10470005
rs770765299
141 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA413944745
COSM1636639
rs1269600130
141 R>H liver [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA413944722
rs1369610824
142 H>R No ClinGen
TOPMed
CA333075410
rs908392026
144 P>S No ClinGen
TOPMed
gnomAD
rs986866587
CA413944652
145 A>S No ClinGen
TOPMed
gnomAD
CA333075407
rs986866587
145 A>T No ClinGen
TOPMed
gnomAD
rs780062781
CA10469996
148 K>E No ClinGen
ExAC
gnomAD
TCGA novel 149 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10469995
rs372021399
150 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs865817612
CA333075306
153 G>* No ClinGen
Ensembl
TCGA novel 153 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 154 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413944396
rs1460670282
154 Q>R No ClinGen
gnomAD
rs1379519445
CA413944369
155 S>F No ClinGen
gnomAD
CA10469993
rs780830960
158 H>L No ClinGen
1000Genomes
ExAC
CA10469991
rs761660696
159 Q>E No ClinGen
ExAC
gnomAD
CA10469990
rs144908554
160 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768237203
CA10469989
162 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs548102581
CA333075269
COSM318094
166 W>* lung [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1054906993
CA333075265
167 P>S No ClinGen
Ensembl
rs759207635
CA10469985
171 I>V No ClinGen
ExAC
gnomAD
CA10469984
rs776102294
174 E>V No ClinGen
ExAC
gnomAD
rs779226209
CA413943946
175 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10469982
rs779226209
175 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10469983
rs770652822
175 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764998377
CA333075234
176 Q>K No ClinGen
Ensembl
rs147291556
CA10469981
180 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1411789495
CA413941402
183 F>S No ClinGen
gnomAD
CA333070089
rs143922155
186 P>T No ClinGen
ESP
gnomAD
CA10469971
rs758402972
193 S>N No ClinGen
ExAC
gnomAD
rs986109143
CA333070075
193 S>R No ClinGen
TOPMed
rs566866599
CA10469970
194 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA413941083
rs1459670660
198 E>D No ClinGen
gnomAD
rs765230684
CA10469969
199 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA10469968
CA333070030
rs758900268
200 E>D No ClinGen
ExAC
gnomAD
CA413940911
rs1328479591
206 T>K No ClinGen
gnomAD
COSM1126663
CA413940853
rs1246781328
209 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA413940836
rs1185896796
210 D>Y No ClinGen
TOPMed
rs760363498
CA10469965
212 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA10469952
rs745825779
214 R>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 216 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 217 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413940620
rs1243416470
221 S>P No ClinGen
gnomAD
CA10469950
rs754996341
230 M>I No ClinGen
ExAC
gnomAD
CA413940469
rs1602785100
231 S>F No ClinGen
Ensembl
CA10469948
rs765943937
232 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs760310179
CA10469947
233 P>L No ClinGen
ExAC
gnomAD
CA413940434
rs1365835965
234 K>R No ClinGen
TOPMed
TCGA novel 236 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413940361
rs1216197723
239 K>N No ClinGen
TOPMed
CA333069323
rs926356926
240 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs144599593
CA10469940
245 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs551180010
CA10469939
250 F>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs150825185
CA10469938
252 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 253 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778071562
TCGA novel
CA10469937
256 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
rs1268507477
CA413939602
257 I>L No ClinGen
gnomAD
TCGA novel 257 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10469936
rs772451038
259 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA333069285
rs373929720
264 K>I No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 265 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10469935
rs747878078
265 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs764306136
CA413939316
268 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA413939304
rs1372829389
268 P>L No ClinGen
gnomAD
rs764306136
CA10469934
268 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1569386375
CA413939297
269 S>A No ClinGen
Ensembl
rs1352806110
CA413939183
271 Y>C No ClinGen
gnomAD
CA10469922
rs369007373
272 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1347839620
CA413939092
276 I>L No ClinGen
TOPMed
rs1441925384
CA413939080
276 I>T No ClinGen
gnomAD
rs141441277
CA10469921
279 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375861902
CA10469920
279 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413938904
rs1404761236
284 V>A No ClinGen
gnomAD
CA333069090
rs372777624
286 E>D No ClinGen
ESP
rs1173574563
CA413938830
287 S>T No ClinGen
gnomAD
rs1473541948
CA413938813
288 G>C No ClinGen
gnomAD
CA10469918
rs748472710
293 R>K No ClinGen
ExAC
gnomAD
rs200772252
CA10469917
294 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775808649
CA10469916
296 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779928492
CA10469914
297 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1461901143
CA413938585
298 P>R No ClinGen
gnomAD
CA333069022
rs941097311
299 G>A No ClinGen
Ensembl
CA413938581
rs1393164142
299 G>S No ClinGen
TOPMed
CA10469913
rs756069824
300 L>V No ClinGen
ExAC
gnomAD
CA413938561
rs745360884
301 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs780720282
CA10469911
301 N>S No ClinGen
ExAC
gnomAD
CA10469912
rs745360884
301 N>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 304 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 304 M>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1212098809
CA413938514
305 E>D No ClinGen
gnomAD
rs774568147
CA10469897
315 H>Y No ClinGen
ExAC
gnomAD
rs768792635
CA10469896
318 K>Q No ClinGen
ExAC
gnomAD
rs749034988
CA10469895
321 R>C No ClinGen
ExAC
gnomAD
CA10469894
rs775314066
321 R>H No ClinGen
ExAC
gnomAD
TCGA novel 321 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1247094264
CA413938352
328 S>N No ClinGen
gnomAD
CA333068186
rs1041105107
329 M>V No ClinGen
Ensembl
CA413938338
rs1381681563
330 Q>E No ClinGen
gnomAD
TCGA novel 332 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1243849025
CA413938304
335 M>V No ClinGen
TOPMed
CA10469878
rs763203069
337 T>A No ClinGen
ExAC
gnomAD
CA413938000
rs769639083
337 T>K No ClinGen
gnomAD
COSM1559122
CA333067492
rs769639083
337 T>M lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA333067481
rs200707071
341 M>V No ClinGen
Ensembl
rs1404154527
CA413937957
343 S>N No ClinGen
gnomAD
TCGA novel 344 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1421871786
CA413937943
344 I>T No ClinGen
TOPMed
rs1363520415
CA413937925
346 S>G No ClinGen
gnomAD
rs745369696
CA10469874
352 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10469873
rs770803524
353 N>D No ClinGen
ExAC
gnomAD
rs767345850
CA333067466
354 I>L No ClinGen
Ensembl
CA10469871
rs777193426
360 I>V No ClinGen
ExAC
gnomAD
CA10469870
rs771850997
363 S>F No ClinGen
ExAC
gnomAD
TCGA novel 365 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413937591
rs1490314798
368 Q>* No ClinGen
gnomAD
CA10469869
rs747872392
372 S>T No ClinGen
ExAC
gnomAD
CA413937449
rs1296483634
375 V>A No ClinGen
TOPMed
rs778723827
CA10469868
379 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA10469866
rs750785416
385 Y>F No ClinGen
ExAC
gnomAD
CA413937180
rs1283326367
385 Y>H No ClinGen
TOPMed
gnomAD
CA10469865
rs781690454
387 D>N No ClinGen
ExAC
gnomAD
rs1377365044
CA413937110
387 D>V No ClinGen
TOPMed
CA10469864
rs367700683
389 A>T No ClinGen
ESP
ExAC
gnomAD
rs1397557140
CA413936989
391 K>R Variant assessed as Somatic; 6.271e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10469862
rs764146719
392 R>C No ClinGen
ExAC
TOPMed
rs748075948
CA10469861
392 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs748075948
CA333067411
392 R>L No ClinGen
ExAC
gnomAD
rs1177165020
CA413936934
393 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1360988625
CA413936945
393 S>P No ClinGen
gnomAD
CA413936864
COSM1469974
rs1203029035
395 P>L large_intestine Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1356550767
CA413936880
395 P>S No ClinGen
TOPMed
CA333067201
rs905904134
399 T>I No ClinGen
TOPMed
CA10469845
rs757779606
406 S>C No ClinGen
ExAC
gnomAD
CA10469844
rs752062501
407 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA333067198
rs58615372
411 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA10469842
rs142643452
417 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10469843
rs758559503
417 R>W No ClinGen
ExAC
gnomAD
rs966579210
CA333067190
418 D>G No ClinGen
Ensembl
rs2022039
CA413936106
420 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA413936096
rs1402864734
420 I>M No ClinGen
TOPMed
TCGA novel 420 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_016076
rs2022039
CA10469841
420 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel
rs753633649
CA10469838
426 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
TOPMed
gnomAD
rs766149390
COSM241831
CA10469837
427 T>M prostate [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs776508842
CA10469835
428 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA413933937
rs1417348271
430 Y>C No ClinGen
TOPMed
rs1417348271
CA413933935
430 Y>F No ClinGen
TOPMed
CA333066837
rs971330125
432 I>V No ClinGen
gnomAD
rs1290706977
CA413933834
433 P>L No ClinGen
gnomAD
CA333066816
rs1044441937
441 T>I No ClinGen
TOPMed
gnomAD
CA413933661
rs1227033878
443 Q>H No ClinGen
TOPMed
gnomAD
rs748202932
CA413933670
443 Q>L No ClinGen
ExAC
gnomAD
rs748202932
CA10469824
443 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs779000265
CA10469823
444 F>V No ClinGen
ExAC
gnomAD
CA333066800
rs1012664054
447 W>C No ClinGen
gnomAD
rs755219463
CA10469821
449 H>D No ClinGen
ExAC
TOPMed
gnomAD
rs753953306
CA10469820
449 H>R No ClinGen
ExAC
gnomAD
CA10469819
rs766632925
451 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA10469818
rs190102282
455 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA10469817
rs750268764
456 T>A No ClinGen
ExAC
gnomAD
rs767541931
CA10469816
458 L>I No ClinGen
ExAC
rs1168046085
CA413933221
458 L>P No ClinGen
gnomAD
TCGA novel 461 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761883829
CA10469815
462 E>A No ClinGen
ExAC
gnomAD
rs1371306124
CA413932995
464 Q>L No ClinGen
gnomAD
rs934736661
CA333066729
465 M>T No ClinGen
TOPMed
gnomAD
CA413932916
rs1201538981
466 D>H No ClinGen
gnomAD
rs1490478591
CA413932524
478 L>F No ClinGen
gnomAD
rs773994286
CA10469814
479 P>L No ClinGen
ExAC
gnomAD
rs185273284
CA333066713
COSM3944513
481 H>R lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
TOPMed
gnomAD
rs1275365188
CA413932448
482 G>R No ClinGen
gnomAD
rs1264657550
CA413930479
485 S>R No ClinGen
TOPMed
CA10469802
rs749418535
COSM1190593
485 S>T lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA413930434
rs1197087574
486 A>V No ClinGen
gnomAD
rs184576220
CA10469801
487 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA333063977
rs867077097
488 S>F No ClinGen
Ensembl
CA10469800
rs756408531
489 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs562068812
CA333063974
491 G>A No ClinGen
TOPMed
rs757247580
CA10469797
495 H>L No ClinGen
ExAC
gnomAD
rs747053500
CA10469798
495 H>Y No ClinGen
1000Genomes
ExAC
rs751483395
CA10469796
498 E>K No ClinGen
ExAC
gnomAD
CA10469795
rs111659690
500 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA10469791
rs759224777
505 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs370019475
CA10469792
505 Y>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10469790
rs773557143
514 G>* No ClinGen
ExAC
gnomAD
rs1338211801
CA413929275
514 G>E No ClinGen
gnomAD
rs1469858823
CA413929258
515 G>D No ClinGen
gnomAD
CA10469789
COSM166828
rs772480125
517 R>Q Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 518 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs900120012
CA333063865
519 K>N No ClinGen
gnomAD
TCGA novel 520 S>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413928659
rs1319191822
522 G>D No ClinGen
TOPMed
gnomAD
rs1319191822
CA413928655
522 G>V No ClinGen
TOPMed
gnomAD
rs140740598
CA10469783
524 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA333063111
rs955605409
525 G>A No ClinGen
TOPMed
gnomAD
CA10469782
rs746151730
526 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs941039264
CA333063107
526 G>R No ClinGen
Ensembl
TCGA novel 527 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413928392
rs1316693661
530 V>A No ClinGen
gnomAD
TCGA novel 531 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 535 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10469780
rs769237439
539 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA10469781
rs781579257
539 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1432828579
CA413928051
543 A>T No ClinGen
gnomAD
rs185265268
CA10469778
545 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1456810149
CA413928002
545 G>R No ClinGen
TOPMed
CA10469777
rs758409685
552 K>T No ClinGen
ExAC
gnomAD
CA10469776
rs752113372
553 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1569370965
CA413927546
554 Y>H No ClinGen
Ensembl
CA413927495
rs1232744977
555 L>F No ClinGen
TOPMed
rs769013325
CA10469767
557 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs775421517
CA10469765
558 M>T No ClinGen
ExAC
gnomAD
TCGA novel 559 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA333062770
rs895189954
561 K>E No ClinGen
TOPMed
rs769855816
CA10469764
561 K>R No ClinGen
ExAC
gnomAD
CA413927201
rs781522142
563 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA10469762
rs781522142
563 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA10469763
rs781522142
563 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA10469761
rs369394234
565 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746777604
CA10469760
565 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs758259732
CA10469759
566 K>R No ClinGen
ExAC
gnomAD
CA10469758
rs758259732
566 K>T No ClinGen
ExAC
gnomAD
rs777405794
CA333062726
567 T>P No ClinGen
Ensembl
TCGA novel 568 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10469756
rs755705478
572 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA10469755
rs77778840
574 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1186478789
CA413926667
580 H>D No ClinGen
gnomAD
CA413926627
rs1477102212
581 T>A No ClinGen
gnomAD
rs201705918
CA10469754
581 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201705918
CA333062712
581 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372078023
CA10469752
585 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10469751
rs751866118
585 N>S No ClinGen
ExAC
gnomAD
rs147721765
CA333062677
586 G>A No ClinGen
ESP
TCGA novel 588 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764577704
CA10469750
588 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 591 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10469749
rs763242388
595 M>V No ClinGen
ExAC
gnomAD
CA10469748
rs775999680
596 C>Y No ClinGen
ExAC
gnomAD
CA413925958
rs1322811578
600 T>I No ClinGen
TOPMed
CA10469747
rs765874299
602 W>G No ClinGen
ExAC
gnomAD
CA413925921
rs765874299
602 W>R No ClinGen
ExAC
gnomAD
CA10469746
rs759638251
604 R>Q No ClinGen
ExAC
gnomAD
rs1569370573
CA413925827
605 E>G No ClinGen
Ensembl
CA10469744
rs771246287
606 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10469745
rs776899422
COSM1736442
606 P>S central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1291973059
CA413925753
607 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 611 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1169760616
CA413925412
616 V>F No ClinGen
gnomAD
rs771840367
CA10469741
617 R>G No ClinGen
ExAC
gnomAD
rs771840367
CA413925397
617 R>W No ClinGen
ExAC
gnomAD
CA10469740
rs747928834
621 G>D No ClinGen
ExAC
gnomAD
CA10469739
rs778864041
622 T>I No ClinGen
ExAC
gnomAD
rs1480294319
CA413925277
622 T>P No ClinGen
gnomAD
TCGA novel 623 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1177823085
CA413923621
624 I>N No ClinGen
gnomAD
CA10469728
rs760160020
625 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1364699668
CA413923443
628 E>G No ClinGen
TOPMed
gnomAD
CA413923294
rs1355391189
632 W>R No ClinGen
TOPMed
CA10469727
rs776842282
635 S>A No ClinGen
ExAC
gnomAD
rs775187605
CA10469726
635 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1446574122
CA413923069
636 T>I No ClinGen
TOPMed
rs868291409
CA333061377
637 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA413923037
rs868291409
637 G>V No ClinGen
gnomAD
rs143469082
CA10469723
646 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1202985842
CA413922689
647 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10469722
rs747955441
647 R>Q No ClinGen
ExAC
CA10469719
rs749283202
650 P>L No ClinGen
ExAC
gnomAD
CA333061316
rs937097691
655 E>K No ClinGen
TOPMed
CA10469717
rs755586303
656 G>A No ClinGen
ExAC
gnomAD
rs755586303
CA413922267
656 G>V No ClinGen
ExAC
gnomAD
CA413922226
rs1441788401
657 T>I No ClinGen
TOPMed
rs926812087
CA333061290
658 L>P No ClinGen
TOPMed
rs780848178
CA10469715
659 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs745368437
CA10469714
661 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs139707843
CA10469713
661 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755524501
CA10469711
664 M>T No ClinGen
ExAC
gnomAD
CA413921723
rs1379344429
667 Q>K No ClinGen
gnomAD
CA413921645
COSM1715276
rs1156491667
670 G>D skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1156491667
CA413921635
670 G>V No ClinGen
gnomAD
TCGA novel 671 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q96C24

11 regional properties for Q96C24

Type Name Position InterPro Accession
domain C2 domain 356 - 479 IPR000008-1
domain C2 domain 507 - 633 IPR000008-2
domain Synaptotagmin 360 - 375 IPR001565-1
domain Synaptotagmin 375 - 388 IPR001565-2
domain Synaptotagmin 433 - 448 IPR001565-3
domain Synaptotagmin 453 - 463 IPR001565-4
domain Rab-binding domain 4 - 122 IPR010911
domain Synaptotagmin-like protein 4/5, C2A domain 357 - 481 IPR037303
domain FYVE-type zinc finger 9 - 122 IPR041282
domain Synaptotagmin-like 1-5, C2B domain 496 - 661 IPR043567
domain Synaptotagmin-like protein 4, FYVE-related domain 58 - 107 IPR044134

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Peripheral membrane protein
  • Cell membrane ; Peripheral membrane protein
  • Cytoplasmic vesicle, secretory vesicle membrane ; Peripheral membrane protein
  • Detected close to the plasma membrane and on secretory granules
  • In pancreas, interacts with insulin-containing vesicles (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
endosome A vacuole to which materials ingested by endocytosis are delivered.
exocytic vesicle A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis.
extrinsic component of membrane The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
platelet alpha granule membrane The lipid bilayer surrounding the platelet alpha granule.
transport vesicle membrane The lipid bilayer surrounding a transport vesicle.

4 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.
neurexin family protein binding Binding to a neurexin, a synaptic cell surface protein related to latrotoxin receptor, laminin and agrin. Neurexins act as cell recognition molecules at nerve terminals.
phospholipid binding Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.
small GTPase binding Binding to a small monomeric GTPase.

10 GO annotations of biological process

Name Definition
exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
insulin secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects.
intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
lysosome localization Any process in which a lysosome is transported to, and/or maintained in, a specific location.
multivesicular body sorting pathway A vesicle-mediated transport process in which transmembrane proteins are ubiquitylated to facilitate their entry into luminal vesicles of multivesicular bodies (MVBs); upon subsequent fusion of MVBs with lysosomes or vacuoles, the cargo proteins are degraded.
negative regulation of insulin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin.
plasma membrane repair The resealing of a cell plasma membrane after cellular wounding due to, for instance, mechanical stress.
positive regulation of exocytosis Any process that activates or increases the frequency, rate or extent of exocytosis.
positive regulation of protein secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell.
regulation of plasma membrane repair Any process that modulates the frequency, rate or extent of plasma membrane repair.

45 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P48018 SYT1 Synaptotagmin-1 Bos taurus (Bovine) PR
P21521 Syt1 Synaptotagmin 1 Drosophila melanogaster (Fruit fly) PR
Q7L8C5 SYT13 Synaptotagmin-13 Homo sapiens (Human) PR
Q6XYQ8 SYT10 Synaptotagmin-10 Homo sapiens (Human) PR
Q9H2B2 SYT4 Synaptotagmin-4 Homo sapiens (Human) PR
P21579 SYT1 Synaptotagmin-1 Homo sapiens (Human) PR
Q86XP0 PLA2G4D Cytosolic phospholipase A2 delta Homo sapiens (Human) PR
Q86SS6 SYT9 Synaptotagmin-9 Homo sapiens (Human) PR
Q9BQG1 SYT3 Synaptotagmin-3 Homo sapiens (Human) PR
O00445 SYT5 Synaptotagmin-5 Homo sapiens (Human) PR
Q9BT88 SYT11 Synaptotagmin-11 Homo sapiens (Human) PR
Q9BQS2 SYT15 Synaptotagmin-15 Homo sapiens (Human) PR
Q8N9U0 TC2N Tandem C2 domains nuclear protein Homo sapiens (Human) PR
O43581 SYT7 Synaptotagmin-7 Homo sapiens (Human) PR
Q5T7P8 SYT6 Synaptotagmin-6 Homo sapiens (Human) PR
Q8IYJ3 SYTL1 Synaptotagmin-like protein 1 Homo sapiens (Human) PR
Q9HCH5 SYTL2 Synaptotagmin-like protein 2 Homo sapiens (Human) PR
Q8TDW5 SYTL5 Synaptotagmin-like protein 5 Homo sapiens (Human) PR
P40749 Syt4 Synaptotagmin-4 Mus musculus (Mouse) PR
Q9EQT6 Syt13 Synaptotagmin-13 Mus musculus (Mouse) PR
Q9R0N4 Syt10 Synaptotagmin-10 Mus musculus (Mouse) PR
Q99N80 Sytl1 Synaptotagmin-like protein 1 Mus musculus (Mouse) PR
Q8C6N3 Syt15 Synaptotagmin-15 Mus musculus (Mouse) PR
Q920N7 Syt12 Synaptotagmin-12 Mus musculus (Mouse) PR
Q9R0N5 Syt5 Synaptotagmin-5 Mus musculus (Mouse) PR
Q9R0N9 Syt9 Synaptotagmin-9 Mus musculus (Mouse) PR
Q9R0N8 Syt6 Synaptotagmin-6 Mus musculus (Mouse) PR
Q50L43 Pla2g4d Cytosolic phospholipase A2 delta Mus musculus (Mouse) PR
P46096 Syt1 Synaptotagmin-1 Mus musculus (Mouse) PR
Q9R0N3 Syt11 Synaptotagmin-11 Mus musculus (Mouse) PR
O35681 Syt3 Synaptotagmin-3 Mus musculus (Mouse) PR
P46097 Syt2 Synaptotagmin-2 Mus musculus (Mouse) PR
Q91XT6 Tc2n Tandem C2 domains nuclear protein Mus musculus (Mouse) PR
Q80T23 Sytl5 Synaptotagmin-like protein 5 Mus musculus (Mouse) PR
Q9R0Q1 Sytl4 Synaptotagmin-like protein 4 Mus musculus (Mouse) PR
Q812E4 Sytl5 Synaptotagmin-like protein 5 Rattus norvegicus (Rat) PR
Q925B5 Syt13 Synaptotagmin-13 Rattus norvegicus (Rat) PR
O08625 Syt10 Synaptotagmin-10 Rattus norvegicus (Rat) PR
P47861 Syt5 Synaptotagmin-5 Rattus norvegicus (Rat) PR
Q62746 Syt6 Synaptotagmin-6 Rattus norvegicus (Rat) PR
P97610 Syt12 Synaptotagmin-12 Rattus norvegicus (Rat) PR
P40748 Syt3 Synaptotagmin-3 Rattus norvegicus (Rat) PR
Q925C0 Syt9 Synaptotagmin-9 Rattus norvegicus (Rat) PR
P59926 Syt15 Synaptotagmin-15 Rattus norvegicus (Rat) PR
P21707 Syt1 Synaptotagmin-1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MSELLDLSFL SEEEKDLILS VLQRDEEVRK ADEKRIRRLK NELLEIKRKG AKRGSQHYSD
70 80 90 100 110 120
RTCARCQESL GRLSPKTNTC RGCNHLVCRD CRIQESNGTW RCKVCAKEIE LKKATGDWFY
130 140 150 160 170 180
DQKVNRFAYR TGSEIIRMSL RHKPAVSKRE TVGQSLLHQT QMGDIWPGRK IIQERQKEPS
190 200 210 220 230 240
VLFEVPKLKS GKSALEAESE SLDSFTADSD STSRRDSLDK SGLFPEWKKM SAPKSQVEKE
250 260 270 280 290 300
TQPGGQNVVF VDEGEMIFKK NTRKILRPSE YTKSVIDLRP EDVVHESGSL GDRSKSVPGL
310 320 330 340 350 360
NVDMEEEEEE EDIDHLVKLH RQKLARSSMQ SGSSMSTIGS MMSIYSEAGD FGNIFVTGRI
370 380 390 400 410 420
AFSLKYEQQT QSLVVHVKEC HQLAYADEAK KRSNPYVKTY LLPDKSRQGK RKTSIKRDTI
430 440 450 460 470 480
NPLYDETLRY EIPESLLAQR TLQFSVWHHG RFGRNTFLGE AEIQMDSWKL DKKLDHCLPL
490 500 510 520 530 540
HGKISAESPT GLPSHKGELV VSLKYIPASK TPVGGDRKKS KGGEGGELQV WIKEAKNLTA
550 560 570 580 590 600
AKAGGTSDSF VKGYLLPMRN KASKRKTPVM KKTLNPHYNH TFVYNGVRLE DLQHMCLELT
610 620 630 640 650 660
VWDREPLASN DFLGGVRLGV GTGISNGEVV DWMDSTGEEV SLWQKMRQYP GSWAEGTLQL
670
RSSMAKQKLG L