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 Q96K37

Entry ID Method Resolution Chain Position Source
AF-Q96K37-F1 Predicted AlphaFoldDB

298 variants for Q96K37

Variant ID(s) Position Change Description Diseaes Association Provenance
CA404598003
rs1394995011
2 A>V No ClinGen
TOPMed
CA404597987
rs1393696965
4 A>S No ClinGen
TOPMed
CA404597930
rs1036482002
6 V>E No ClinGen
gnomAD
rs1036482002
CA305955970
6 V>G No ClinGen
gnomAD
CA404597949
rs1285447227
6 V>L No ClinGen
TOPMed
CA305955964
rs937268057
8 A>P No ClinGen
TOPMed
rs1205836570
CA404597888
9 G>C No ClinGen
TOPMed
rs1267555839
CA404597873
10 H>R No ClinGen
TOPMed
CA404597843
rs1201050401
12 A>V No ClinGen
TOPMed
CA404597840
rs1434071608
13 G>R No ClinGen
TOPMed
CA305955963
rs928533552
14 G>A No ClinGen
TOPMed
gnomAD
CA404597803
rs928533552
14 G>D No ClinGen
TOPMed
gnomAD
CA404597814
rs1466819378
14 G>S No ClinGen
TOPMed
gnomAD
rs1395432468
CA404597791
15 P>L No ClinGen
gnomAD
CA305955962
rs981702692
15 P>S No ClinGen
TOPMed
gnomAD
CA9280301
rs775722955
17 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1403187197
CA404597725
20 S>N No ClinGen
TOPMed
rs1412993153
CA404597712
21 S>G No ClinGen
gnomAD
CA404597709
rs1305145017
21 S>N No ClinGen
TOPMed
rs1381917744
CA404597620
25 R>H No ClinGen
TOPMed
TCGA novel 26 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404597604
rs989936448
26 E>K No ClinGen
TOPMed
gnomAD
rs989936448
CA305955926
26 E>Q No ClinGen
TOPMed
gnomAD
CA404597535
rs1468657889
28 A>T No ClinGen
gnomAD
CA305955924
rs957099444
28 A>V No ClinGen
TOPMed
gnomAD
CA9280300
rs770045689
33 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs868497946
CA305955913
34 C>F No ClinGen
Ensembl
CA305955900
rs953628264
37 W>C No ClinGen
TOPMed
CA404597270
rs1342064193
39 A>S No ClinGen
gnomAD
rs1372008165
CA404597218
42 A>P No ClinGen
gnomAD
CA404597188
rs1220846427
44 G>A No ClinGen
TOPMed
gnomAD
CA305955877
rs866698867
46 V>L No ClinGen
gnomAD
rs866698867
CA404597160
46 V>M No ClinGen
gnomAD
CA404597135
rs1349438765
47 V>A No ClinGen
gnomAD
CA305955873
rs898016411
47 V>I No ClinGen
TOPMed
gnomAD
CA404596921
rs1388189629
60 T>I No ClinGen
gnomAD
rs865863690
CA305955868
60 T>P No ClinGen
Ensembl
rs1396518959
CA404596898
61 V>E No ClinGen
gnomAD
CA404596900
rs1454498406
CA404596907
61 V>L No ClinGen
gnomAD
rs1015505617
CA305955837
65 H>Q No ClinGen
TOPMed
CA9280298
rs781026728
66 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA404596755
rs1440088763
69 L>V No ClinGen
gnomAD
CA404596730
rs1204910983
71 A>T No ClinGen
TOPMed
gnomAD
CA305955814
rs77915538
73 L>P No ClinGen
Ensembl
CA305955810
rs887829336
74 P>L No ClinGen
TOPMed
TCGA novel 74 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1248132587
CA404596641
75 P>R No ClinGen
TOPMed
CA404596602
rs1174911220
78 R>S No ClinGen
Ensembl
CA404596587
rs1599324204
79 A>T No ClinGen
Ensembl
rs1402810083
CA404596527
81 R>G No ClinGen
gnomAD
CA404596481
rs1315871221
83 P>S No ClinGen
TOPMed
rs1568276177
CA404596450
85 A>T No ClinGen
Ensembl
CA404596360
rs1307273813
89 S>L No ClinGen
gnomAD
rs201579767
CA305955799
90 G>R No ClinGen
TOPMed
gnomAD
CA305955797
rs201579767
90 G>S No ClinGen
TOPMed
gnomAD
CA404596350
rs1045679673
91 P>A No ClinGen
TOPMed
gnomAD
CA305955791
rs1045679673
91 P>S No ClinGen
TOPMed
gnomAD
CA404596328
rs1408212762
92 G>* No ClinGen
TOPMed
gnomAD
rs577323650
CA9280296
92 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA404596329
CA404596333
rs1408212762
92 G>R No ClinGen
TOPMed
gnomAD
rs1250410859
CA404596315
93 P>H No ClinGen
gnomAD
CA404596318
rs1468106450
93 P>S No ClinGen
gnomAD
rs1486266504
CA404596306
94 S>G No ClinGen
gnomAD
TCGA novel 94 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404596268
rs1157137898
95 P>L No ClinGen
TOPMed
rs1458007330
CA404596264
96 H>D No ClinGen
TOPMed
CA404596259
rs557296600
96 H>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA404596260
rs557296600
96 H>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9280295
rs557296600
96 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9280294
rs757953755
98 S>L No ClinGen
ExAC
gnomAD
rs1284722091
CA404596225
98 S>P No ClinGen
TOPMed
CA9280293
rs752186866
99 S>F No ClinGen
ExAC
gnomAD
CA404596163
rs1308635655
101 P>L No ClinGen
TOPMed
rs1348768467
CA404596179
101 P>T No ClinGen
gnomAD
CA404596154
rs1178907900
102 L>Q No ClinGen
TOPMed
gnomAD
CA404596100
rs1300902325
105 P>L No ClinGen
TOPMed
gnomAD
CA404596097
rs1300902325
105 P>Q No ClinGen
TOPMed
gnomAD
CA404596098
rs1300902325
105 P>R No ClinGen
TOPMed
gnomAD
rs935736929
CA305955781
106 R>C No ClinGen
TOPMed
CA404596091
rs1480028056
106 R>H No ClinGen
Ensembl
CA404596071
rs1465301555
107 F>S No ClinGen
gnomAD
rs764959391
CA9280292
108 Y>S No ClinGen
ExAC
gnomAD
rs1160913186
CA404595974
112 V>M No ClinGen
gnomAD
rs1410634210
CA404595937
114 P>L No ClinGen
TOPMed
gnomAD
rs750812338
TCGA novel
CA9280290
117 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
CA404595870
rs1258822687
118 G>C No ClinGen
gnomAD
CA404595809
rs1180483745
121 F>V No ClinGen
gnomAD
TCGA novel 125 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs575018623
CA9280288
128 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1218262910
CA404595701
129 S>G No ClinGen
gnomAD
TCGA novel 130 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404595660
rs1327316575
131 W>R No ClinGen
gnomAD
CA305955748
rs1029722751
133 V>A No ClinGen
TOPMed
CA404595602
rs1176049737
133 V>L No ClinGen
TOPMed
rs868723130
CA404595584
134 P>S No ClinGen
gnomAD
CA305955742
rs868723130
134 P>T No ClinGen
gnomAD
rs1336869370
CA404595500
141 V>I No ClinGen
gnomAD
rs778572274
CA9280273
144 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA404593564
rs1170883231
145 M>V No ClinGen
gnomAD
rs1389934325
CA404593535
149 V>M No ClinGen
TOPMed
gnomAD
CA9280270
rs767971575
151 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9280269
rs757679561
151 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1480934382
CA404593509
153 S>F No ClinGen
gnomAD
CA404593508
rs1202779639
154 R>G No ClinGen
gnomAD
rs1000093968
CA305955413
155 I>T No ClinGen
TOPMed
CA9280266
rs763380382
155 I>V No ClinGen
ExAC
gnomAD
rs1236091088
CA404593473
159 E>Q No ClinGen
gnomAD
rs775477901
CA9280265
161 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA404593449
rs1230819695
162 S>C No ClinGen
TOPMed
TCGA novel 162 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA305955410
rs889661925
162 S>N No ClinGen
TOPMed
rs944747722
CA404593445
162 S>R No ClinGen
gnomAD
TCGA novel 163 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404635295
rs1381595141
165 V>I No ClinGen
gnomAD
rs753256934
CA9280247
166 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA306011182
rs745802741
171 P>A No ClinGen
Ensembl
rs759576353
CA9280245
173 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA9280242
rs760813611
175 G>D No ClinGen
ExAC
gnomAD
rs766567404
CA9280243
175 G>S No ClinGen
ExAC
gnomAD
CA404635206
rs1414332355
179 A>V No ClinGen
gnomAD
rs774469202
CA9280238
181 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 186 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404635159
rs1255216463
187 D>N No ClinGen
gnomAD
rs941557153
CA306011147
188 M>T No ClinGen
TOPMed
gnomAD
CA9280233
rs745571318
188 M>V No ClinGen
ExAC
gnomAD
TCGA novel 189 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 189 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404635129
rs1568274955
191 L>F No ClinGen
Ensembl
CA404635122
rs138285196
192 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9280231
rs138285196
192 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404635117
rs1450796743
193 S>G No ClinGen
gnomAD
rs779346314
CA9280229
194 A>T No ClinGen
ExAC
gnomAD
TCGA novel 194 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1383036699
CA404635103
195 L>F No ClinGen
gnomAD
TCGA novel 195 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753890960
CA9280227
196 A>T No ClinGen
ExAC
gnomAD
CA306011135
rs1055547975
196 A>V No ClinGen
gnomAD
CA9280225
rs561883745
197 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1471754015
CA404635086
198 T>M No ClinGen
gnomAD
rs1568274926
CA404635067
201 F>C No ClinGen
Ensembl
CA306011106
rs201684397
205 N>S No ClinGen
1000Genomes
CA9280220
rs764064028
206 I>M No ClinGen
ExAC
gnomAD
TCGA novel 210 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1207567731
CA404635004
210 K>R No ClinGen
gnomAD
CA9280203
rs764043868
213 R>* No ClinGen
ExAC
gnomAD
rs762967076
CA9280202
213 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1167704168
CA404634961
215 S>L No ClinGen
gnomAD
rs758925004
CA9280199
216 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765255227
CA9280200
216 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9280198
rs776222129
221 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1183587950
CA404634909
224 N>S No ClinGen
gnomAD
CA306010239
rs377141552
228 C>F No ClinGen
ESP
rs967033576
CA306010241
228 C>R No ClinGen
Ensembl
rs769059037
CA9280194
230 A>T No ClinGen
ExAC
gnomAD
CA306010217
rs201250256
231 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201250256
CA9280192
231 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs540729933
CA9280191
232 F>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1344481248
CA404634851
233 F>L No ClinGen
gnomAD
rs1289028995
CA404634848
234 M>V No ClinGen
gnomAD
rs1411639337
CA404634824
237 T>I No ClinGen
gnomAD
CA404634819
rs1348502642
238 W>G No ClinGen
gnomAD
CA404634821
rs1348502642
238 W>R No ClinGen
gnomAD
rs745876227
CA9280190
240 L>V No ClinGen
ExAC
gnomAD
rs909031994
CA306010203
241 V>M No ClinGen
TOPMed
CA404634780
rs1448411460
244 S>* No ClinGen
TOPMed
gnomAD
rs1448411460
CA404634778
244 S>L No ClinGen
TOPMed
gnomAD
TCGA novel 245 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1407253136
CA404634767
246 F>S No ClinGen
TOPMed
CA9280188
rs375432387
248 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9280187
rs375432387
248 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404634751
rs1412133109
249 S>N No ClinGen
gnomAD
rs752563576
CA9280184
251 D>E No ClinGen
ExAC
gnomAD
rs140736951
CA9280185
251 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765030120
CA9280183
252 L>F No ClinGen
ExAC
gnomAD
CA404634321
rs1599315696
253 T>P No ClinGen
Ensembl
rs984010174
CA404634302
254 Y>C No ClinGen
TOPMed
gnomAD
CA404634300
rs984010174
254 Y>F No ClinGen
TOPMed
gnomAD
CA306003168
rs984010174
254 Y>S No ClinGen
TOPMed
gnomAD
rs1208955573
CA404634289
255 V>A No ClinGen
gnomAD
rs768784190
CA9280129
255 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146779841
CA9280128
256 Y>S No ClinGen
ESP
ExAC
TOPMed
CA404634265
rs1465918768
257 Q>* No ClinGen
TOPMed
gnomAD
rs1203940628
CA404634245
258 W>S No ClinGen
gnomAD
rs374298006
CA9280126
260 W>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745863119
CA9280125
261 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA9280123
rs756830191
266 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA306003119
rs749199081
269 G>S No ClinGen
gnomAD
CA9280120
rs758132299
271 C>F No ClinGen
ExAC
gnomAD
CA404634087
rs758132299
271 C>Y No ClinGen
ExAC
gnomAD
rs754254923
CA9280119
272 N>K No ClinGen
ExAC
rs766910485
CA9280118
274 A>S No ClinGen
ExAC
gnomAD
rs1271241992
CA404634041
274 A>V No ClinGen
TOPMed
CA404633990
rs1194595309
278 I>T No ClinGen
gnomAD
rs761244145
CA9280117
279 A>T No ClinGen
ExAC
gnomAD
rs1204827085
CA404633954
281 S>G No ClinGen
TOPMed
CA306003078
rs994565393
281 S>I No ClinGen
Ensembl
rs1204827085
CA404633955
281 S>R No ClinGen
TOPMed
CA9280115
rs376995220
284 N>S No ClinGen
ESP
ExAC
gnomAD
CA306003070
rs1020101948
286 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA404633755
rs1212138092
292 S>L No ClinGen
gnomAD
CA9280110
rs775250515
293 V>I No ClinGen
ExAC
gnomAD
rs745759492
CA9280108
294 A>T No ClinGen
ExAC
CA9280107
rs140984339
295 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA306003037
rs1053924837
296 A>T No ClinGen
Ensembl
CA404633707
rs1268498851
300 I>T No ClinGen
gnomAD
rs369825827
CA9280106
301 M>I No ClinGen
ESP
ExAC
gnomAD
rs1331745237
CA404633700
301 M>T No ClinGen
gnomAD
rs1430039744
CA404633703
301 M>V No ClinGen
gnomAD
rs1422637654
CA404633694
302 V>I No ClinGen
gnomAD
CA9280105
rs200023824
304 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA9280102
rs752449991
309 M>T No ClinGen
ExAC
gnomAD
CA9280101
rs780536619
311 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs202071873
CA9280100
311 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA404633630
rs1232047973
312 N>K No ClinGen
TOPMed
CA404633624
rs1295184311
313 P>L No ClinGen
TOPMed
rs1201696533
CA404633622
314 V>F No ClinGen
gnomAD
rs762230581
CA9280097
316 S>R No ClinGen
ExAC
gnomAD
CA9280098
rs768011105
316 S>T No ClinGen
ExAC
gnomAD
CA9280096
rs751654477
317 T>I No ClinGen
ExAC
gnomAD
rs1408146172
CA404633592
319 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1056820937
CA306002960
329 V>F No ClinGen
TOPMed
rs1056820937
CA404633526
329 V>I No ClinGen
TOPMed
rs937057026
CA306002945
333 N>K No ClinGen
gnomAD
rs747605523
CA9280065
338 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA9280066
rs772157979
338 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA9280064
rs778572398
340 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA9280063
rs768348529
342 Q>R No ClinGen
ExAC
gnomAD
rs1290710883
CA404633416
343 A>T No ClinGen
Ensembl
rs748949658
CA9280062
343 A>V No ClinGen
ExAC
gnomAD
CA9280061
rs151052094
344 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1455830780
CA404633403
345 K>R No ClinGen
gnomAD
rs1568270602
CA404633386
347 L>P No ClinGen
Ensembl
CA9280058
rs778199028
350 V>I No ClinGen
ExAC
gnomAD
CA306001677
rs971046024
351 T>A No ClinGen
TOPMed
rs1439827641
CA404633363
351 T>I No ClinGen
gnomAD
rs376710881
CA9280057
352 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404633354
rs1313440234
353 A>E No ClinGen
TOPMed
gnomAD
TCGA novel 353 A>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148657007
CA9280056
354 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404633343
rs1248748307
355 L>V No ClinGen
gnomAD
rs1188317152
CA404633336
356 S>N No ClinGen
TOPMed
gnomAD
CA9280053
rs754052000
359 E>D No ClinGen
ExAC
gnomAD
rs552232039
CA9280054
359 E>K No ClinGen
ExAC
gnomAD
CA9280052
rs372456978
360 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9280051
rs200335570
360 R>H Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404633303
rs1289293305
361 H>Y No ClinGen
gnomAD
CA9280049
rs147619010
362 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs565590794
CA9280050
362 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1379971348
CA404633292
363 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs375491945
CA9280048
363 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9280047
rs773984481
365 L>P No ClinGen
ExAC
gnomAD
CA404633261
rs1288867280
368 P>T No ClinGen
gnomAD
rs748938583
CA9280045
369 H>P No ClinGen
ExAC
gnomAD
rs768099647
CA9280046
369 H>Y No ClinGen
ExAC
gnomAD
rs1390957595
CA404633239
371 G>D No ClinGen
TOPMed
gnomAD
CA9280043
rs145285238
371 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404633237
rs1390957595
371 G>V No ClinGen
TOPMed
gnomAD
rs372899866
CA9280041
372 L>R No ClinGen
ESP
ExAC
gnomAD
CA404633233
rs1170698223
372 L>V No ClinGen
TOPMed
rs758896013
CA9280040
373 L>V No ClinGen
ExAC
rs901860363
CA306001507
377 H>P No ClinGen
TOPMed
gnomAD
CA9280035
rs147350311
378 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1599761520
CA404633146
379 D>N No ClinGen
Ensembl
rs750240068
CA9280033
380 Y>C No ClinGen
ExAC
gnomAD
rs767476586
CA9280032
382 Y>H No ClinGen
ExAC
gnomAD
CA404633085
rs1568270524
383 G>D No ClinGen
Ensembl
CA9280031
rs562290843
383 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199865548
CA9280030
384 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1347898165
CA404633076
384 R>H No ClinGen
gnomAD
CA9280029
rs199865548
384 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404633064
rs1273531715
385 N>S No ClinGen
TOPMed
rs1347822399
CA404633055
386 N>D No ClinGen
TOPMed
rs1219885092
CA404633050
386 N>S No ClinGen
TOPMed
rs762318321
CA404632996
390 D>A No ClinGen
ExAC
gnomAD
rs762318321
CA9280028
390 D>V No ClinGen
ExAC
gnomAD
CA404632984
rs1599761488
391 H>P No ClinGen
Ensembl
CA404632937
rs1365562281
394 Y>* No ClinGen
Ensembl
CA404632943
rs1200700853
394 Y>C No ClinGen
TOPMed
CA306001378
rs371174699
396 R>Q No ClinGen
ESP
TOPMed
gnomAD
rs775075153
CA9280027
396 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1372597813
CA404632902
397 Q>* No ClinGen
gnomAD
TCGA novel 398 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1176828102
CA404632853
400 P>S No ClinGen
gnomAD
CA404632840
rs1568270496
401 N>D No ClinGen
Ensembl
CA306001365
rs867649677
402 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA9280023
rs761910310
403 Y>* No ClinGen
ESP
ExAC
TOPMed
CA404632803
rs1427049535
403 Y>C No ClinGen
gnomAD
CA9280024
rs773546820
404 S>N No ClinGen
ExAC
CA9280022
rs772468571
405 L>W No ClinGen
ExAC
TOPMed
gnomAD
CA9280021
rs368062600
407 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9280020
rs779242527
407 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA404632724
rs1193767953
408 Y>C No ClinGen
TOPMed
gnomAD
rs1466761433
CA404632730
408 Y>H No ClinGen
TOPMed
CA9280018
rs749260441
409 D>H No ClinGen
ExAC
gnomAD
CA9280019
rs749260441
409 D>N No ClinGen
ExAC
gnomAD
CA9280016
rs756393413
410 V>A No ClinGen
ExAC
gnomAD
CA9280017
rs780249386
410 V>L No ClinGen
ExAC
gnomAD
CA404632677
rs1393300747
411 V>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed

No associated diseases with Q96K37

1 regional properties for Q96K37

Type Name Position InterPro Accession
domain Sugar phosphate transporter domain 29 - 333 IPR004853

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name Definition
antiporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out).

No GO annotations of biological process

Name Definition
No GO annotations for biological process

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P0CK97 SLC35E2A Solute carrier family 35 member E2A Homo sapiens (Human) PR
P0CK96 SLC35E2B Solute carrier family 35 member E2B Homo sapiens (Human) PR
Q8C811 Slc35e2a Solute carrier family 35 member E2A Mus musculus (Mouse) PR
Q8CD26 Slc35e1 Solute carrier family 35 member E1 Mus musculus (Mouse) PR
Q8RXL8 UXT3 UDP-xylose transporter 3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SRE4 URGT1 UDP-rhamnose/UDP-galactose transporter 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SS40 At3g10290 Probable sugar phosphate/phosphate translocator At3g10290 Arabidopsis thaliana (Mouse-ear cress) PR
Q8H0T6 PPT2 Phosphoenolpyruvate/phosphate translocator 2, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MAAAAVGAGH GAGGPGAASS SGGAREGARV AALCLLWYAL SAGGNVVNKV ILSAFPFPVT
70 80 90 100 110 120
VSLCHILALC AGLPPLLRAW RVPPAPPVSG PGPSPHPSSG PLLPPRFYPR YVLPLAFGKY
130 140 150 160 170 180
FASVSAHVSI WKVPVSYAHT VKATMPIWVV LLSRIIMKEK QSTKVYLSLI PIISGVLLAT
190 200 210 220 230 240
VTELSFDMWG LVSALAATLC FSLQNIFSKK VLRDSRIHHL RLLNILGCHA VFFMIPTWVL
250 260 270 280 290 300
VDLSAFLVSS DLTYVYQWPW TLLLLAVSGF CNFAQNVIAF SILNLVSPLS YSVANATKRI
310 320 330 340 350 360
MVITVSLIML RNPVTSTNVL GMMTAILGVF LYNKTKYDAN QQARKHLLPV TTADLSSKER
370 380 390 400
HRSPLEKPHN GLLFPQHGDY QYGRNNILTD HFQYSRQSYP NSYSLNRYDV