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

2 structures for O75791

Entry ID Method Resolution Chain Position Source
5GJH X-ray 120 A A/C 58-155 PDB
AF-O75791-F1 Predicted AlphaFoldDB

270 variants for O75791

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 2 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370483056
CA10245658
3 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411968558
rs1428210175
4 V>I No ClinGen
gnomAD
rs1478495061
CA411968575
6 K>M No ClinGen
TOPMed
TCGA novel 6 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1569207663
CA411968585
7 F>L No ClinGen
Ensembl
rs1473852918
CA411968593
8 D>E No ClinGen
TOPMed
rs1180492684
CA411968586
8 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1366703601
CA411968590
8 D>V No ClinGen
gnomAD
rs758775230
CA10245660
10 T>S No ClinGen
ExAC
gnomAD
rs1569207682
CA411968614
12 S>A No ClinGen
Ensembl
rs1253255216
CA411968623
13 G>D No ClinGen
TOPMed
CA411968626
rs1209490927
14 E>K No ClinGen
TOPMed
rs1320961295
CA411968700
23 D>G No ClinGen
gnomAD
CA10245661
rs150476109
26 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs975696602
CA324155358
30 N>S No ClinGen
TOPMed
CA411969478
rs1463675269
31 Q>K No ClinGen
gnomAD
CA411969496
rs1204390225
32 E>K No ClinGen
TOPMed
CA411969578
rs1266490232
36 K>R No ClinGen
TOPMed
CA10245686
rs371786533
37 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775175089
CA10245688
40 G>E No ClinGen
ExAC
gnomAD
CA324155385
rs138281457
41 S>G No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 42 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1159751923
CA411969672
42 Q>R No ClinGen
gnomAD
rs768481077
CA10245690
51 I>M No ClinGen
ExAC
gnomAD
TCGA novel 52 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1408106492
CA411969849
54 Q>* No ClinGen
gnomAD
CA10245691
rs776445271
54 Q>L No ClinGen
ExAC
gnomAD
TCGA novel 55 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10245692
rs761669779
56 P>A No ClinGen
ExAC
gnomAD
CA10245693
rs765331882
56 P>R No ClinGen
ExAC
gnomAD
CA411970335
rs1296442281
61 E>G No ClinGen
TOPMed
rs138713668
CA10245709
61 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1283251921
CA411970342
62 G>C No ClinGen
gnomAD
CA411970349
rs1255710073
62 G>V No ClinGen
gnomAD
rs1207999000
CA411970357
63 L>F No ClinGen
gnomAD
rs1273085785
CA411970360
63 L>H No ClinGen
gnomAD
rs748105252
CA10245711
64 S>C No ClinGen
ExAC
gnomAD
COSM3939657
CA324158531
rs974232489
65 R>* oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs769770976
CA10245712
66 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 67 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411970428
rs1431039150
68 A>S No ClinGen
gnomAD
rs1353740845
CA411970460
70 N>S No ClinGen
gnomAD
rs918935168
CA324158543
71 L>F No ClinGen
TOPMed
gnomAD
rs1431387135
CA411970478
71 L>S No ClinGen
TOPMed
gnomAD
rs1166694576
CA411970486
72 L>F No ClinGen
TOPMed
gnomAD
CA411970485
rs1166694576
72 L>V No ClinGen
TOPMed
gnomAD
CA411970551
rs1429219429
75 K>N No ClinGen
gnomAD
rs1370013563
CA411970562
76 E>G No ClinGen
gnomAD
rs1294137329
CA411970555
76 E>K No ClinGen
gnomAD
CA411970604
rs1420483012
79 F>C No ClinGen
TOPMed
CA10245715
rs770988005
82 I>T No ClinGen
ExAC
gnomAD
CA411970662
rs1488265097
83 R>P No ClinGen
TOPMed
rs774442868
CA10245716
84 A>G No ClinGen
ExAC
gnomAD
rs759767093
CA10245717
86 Q>E No ClinGen
ExAC
rs767798258
CA10245718
89 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs753165418
CA10245719
90 G>A No ClinGen
ExAC
gnomAD
CA10245720
rs540420303
91 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411970782
rs1217363736
91 D>V No ClinGen
TOPMed
CA411970820
rs1288778423
94 I>V No ClinGen
TOPMed
TCGA novel 99 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465935051
CA411972118
100 D>G No ClinGen
gnomAD
CA411972114
rs1260977466
100 D>N No ClinGen
gnomAD
CA10245738
rs764493218
102 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1194310792
CA411972136
103 Q>* No ClinGen
Ensembl
rs1183583196
CA411972183
109 R>* No ClinGen
gnomAD
CA10245739
rs754398099
109 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1164117471
CA411972190
110 D>G No ClinGen
gnomAD
rs372740629
CA10245740
112 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411972219
rs1458959115
114 N>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs765826788
CA10245741
114 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs765826788
CA324163204
114 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs751130456
CA10245742
116 F>L No ClinGen
ExAC
gnomAD
TCGA novel 117 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1305153200
CA411972297
118 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs780881602
CA10245744
120 E>G No ClinGen
ExAC
gnomAD
rs1216928522
CA411972363
122 F>L No ClinGen
TOPMed
CA10245746
rs755910417
123 P>L No ClinGen
ExAC
gnomAD
CA324163261
rs866441319
124 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs367728516
CA324163288
126 N>D No ClinGen
ESP
gnomAD
CA411972445
rs1324058465
127 K>N No ClinGen
gnomAD
rs749209183
CA10245748
128 L>P No ClinGen
ExAC
gnomAD
CA411972450
rs1601743187
128 L>V No ClinGen
Ensembl
rs1322329825
CA411972497
131 Y>C No ClinGen
TOPMed
rs778689725
CA10245750
131 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1181361069
CA411972504
132 Y>H No ClinGen
gnomAD
TCGA novel 133 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1252720987
CA411972512
133 R>K No ClinGen
gnomAD
TCGA novel 133 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371510448
CA10245751
134 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA324163328
rs763676052
135 N>I No ClinGen
Ensembl
TCGA novel 135 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775865688
CA10245753
136 S>C No ClinGen
ExAC
gnomAD
CA411972555
rs1178625972
140 Q>E No ClinGen
TOPMed
gnomAD
CA411972576
CA411972577
rs1372275780
142 Q>H No ClinGen
gnomAD
rs1357940059
CA411972581
143 I>T No ClinGen
TOPMed
gnomAD
CA411972587
rs1447856000
144 F>V No ClinGen
TOPMed
gnomAD
rs1309166584
CA411972594
145 L>V No ClinGen
gnomAD
rs267606253
CA324163354
146 R>K No ClinGen
Ensembl
CA10245755
rs769173032
147 D>H No ClinGen
ExAC
gnomAD
rs769173032
CA10245756
147 D>N No ClinGen
ExAC
gnomAD
rs139269286
CA10245758
149 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10245757
rs139269286
149 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1009685469
CA324163373
150 R>* No ClinGen
TOPMed
CA10245759
rs140074469
150 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411972627
rs1426952536
151 E>K No ClinGen
TOPMed
TCGA novel 152 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1569217901
CA411972782
154 G>D No ClinGen
Ensembl
CA10245789
rs370853756
154 G>R No ClinGen
ESP
ExAC
gnomAD
CA411972795
rs976111985
156 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA411972794
rs976111985
156 R>P No ClinGen
TOPMed
gnomAD
rs976111985
CA324164357
156 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs141126223
CA10245790
RCV000898353
156 R>W No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10245792
rs576735893
157 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA411972810
rs1357197292
159 S>G No ClinGen
gnomAD
rs146304501
CA10245793
159 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10245794
rs748252804
159 S>R No ClinGen
ExAC
rs376190713
CA411972828
162 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374041033
CA10245798
162 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10245797
rs376190713
162 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA324164400
rs1051439606
165 Q>H No ClinGen
TOPMed
rs989288073
CA411972848
165 Q>L No ClinGen
TOPMed
CA324164390
rs989288073
165 Q>P No ClinGen
TOPMed
CA411972853
rs1193162313
166 G>E No ClinGen
gnomAD
rs915124071
CA324164403
167 G>S No ClinGen
Ensembl
CA10245800
rs527418663
168 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs767989135
CA10245801
169 H>Q No ClinGen
ExAC
gnomAD
rs1160900890
CA411972875
170 L>F No ClinGen
gnomAD
rs1412636409
CA411972880
171 S>G No ClinGen
gnomAD
CA10245802
rs776346724
171 S>N No ClinGen
ExAC
gnomAD
CA411972890
rs1160919232
172 G>A No ClinGen
gnomAD
rs1166412928
CA411972892
173 A>T No ClinGen
gnomAD
rs1042322372
CA324164440
178 I>F No ClinGen
Ensembl
CA10245805
rs750290967
179 R>* No ClinGen
ExAC
gnomAD
CA10245807
rs61752259
179 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10245806
rs61752259
RCV000880182
179 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA411972936
rs1374099406
180 P>A No ClinGen
TOPMed
CA324164451
rs939398261
181 S>A No ClinGen
Ensembl
rs865901367
CA324164460
181 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA10245810
rs781093092
184 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10245809
COSM187308
rs755090425
184 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10245811
rs142712265
187 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142712265
CA324164500
187 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411972984
rs1257514391
188 D>H No ClinGen
TOPMed
gnomAD
rs919680021
CA324164517
189 H>P No ClinGen
Ensembl
CA10245813
rs778028089
189 H>Q No ClinGen
ExAC
gnomAD
CA10245814
rs749722464
190 P>T No ClinGen
ExAC
gnomAD
CA411973006
rs1256270930
191 P>L No ClinGen
gnomAD
TCGA novel 191 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 192 T>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs929679285
CA324164541
192 T>P No ClinGen
Ensembl
rs1569218199
CA411973012
193 L>I No ClinGen
Ensembl
CA411973020
rs1412376096
194 P>S No ClinGen
TOPMed
rs994976457
CA324164578
196 Q>* No ClinGen
TOPMed
CA411973047
rs1473614207
198 H>P No ClinGen
TOPMed
rs912252231
CA324164596
200 H>P No ClinGen
gnomAD
CA411973066
rs1456532185
200 H>Q No ClinGen
TOPMed
gnomAD
rs746302435
CA10245818
204 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1172894325
CA411973089
204 P>T No ClinGen
gnomAD
rs768241861
CA10245819
COSM98280
205 P>L upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1300259602
CA411973103
206 Q>R No ClinGen
TOPMed
gnomAD
rs769370836
CA10245822
207 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1290478351
CA411973122
209 P>S No ClinGen
gnomAD
CA411973131
rs1348805658
210 A>V No ClinGen
TOPMed
gnomAD
CA10245826
rs751579805
213 Q>R No ClinGen
ExAC
gnomAD
rs1347573041
CA411973175
217 P>A No ClinGen
gnomAD
rs1338843312
CA411973179
217 P>L No ClinGen
TOPMed
rs1347573041
CA411973176
217 P>S No ClinGen
gnomAD
rs1347573041
CA411973174
217 P>T No ClinGen
gnomAD
rs752763135
CA10245829
218 P>L No ClinGen
ExAC
gnomAD
CA10245828
rs767469099
218 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs867768593
CA324164623
219 Q>* No ClinGen
Ensembl
rs35158049 219 Q>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1183659328
CA411973193
220 Q>* No ClinGen
gnomAD
CA10245831
COSM3424191
rs180677935
221 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA324164653
rs1019235957
221 R>Q No ClinGen
gnomAD
CA10245833
rs757618890
222 Y>F No ClinGen
ExAC
gnomAD
rs754006096
CA10245832
222 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA411973236
rs1172982555
226 H>Q No ClinGen
gnomAD
rs746394148
CA10245835
227 H>Y No ClinGen
ExAC
gnomAD
CA324164671
rs893663722
229 H>Y No ClinGen
TOPMed
CA10245856
rs780482218
231 E>D No ClinGen
ExAC
gnomAD
rs747491505
CA10245857
232 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10245858
rs755717282
232 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1385472101
CA411973404
233 R>* No ClinGen
gnomAD
rs777370081
CA10245859
233 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1366560121
CA411973411
234 G>A No ClinGen
gnomAD
rs1387536267
CA411973446
239 I>M No ClinGen
TOPMed
gnomAD
CA10245860
rs748786613
239 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA10245862
rs774145468
243 H>Y No ClinGen
ExAC
gnomAD
rs374782136
CA10245864
244 C>G No ClinGen
ExAC
gnomAD
CA10245865
rs775298849
245 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA10245866
rs760617301
246 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs114611169
CA10245868
RCV000882788
247 G>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA324165624
rs935020882
250 S>G No ClinGen
Ensembl
rs761847486
CA10245869
250 S>N No ClinGen
ExAC
gnomAD
CA411973516
rs1601747189
250 S>R No ClinGen
Ensembl
TCGA novel 251 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750643624
COSM388161
CA10245871
254 A>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA411973563
rs1333275986
257 M>T No ClinGen
gnomAD
rs766700141
CA10245873
258 H>R No ClinGen
ExAC
gnomAD
CA411973577
rs1164470654
259 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA411973589
rs1601747254
261 H>Y No ClinGen
Ensembl
TCGA novel 263 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1389906842
CA411973617
265 V>L No ClinGen
gnomAD
rs752029569
CA10245874
267 L>R No ClinGen
ExAC
gnomAD
CA411973640
rs1396121729
268 Q>H No ClinGen
gnomAD
CA10245878
rs775800288
269 A>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10245877
rs775800288
269 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA10245881
rs771799019
270 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1268342773
CA411973656
271 G>V No ClinGen
gnomAD
rs781122629
CA10245902
272 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10245903
rs748013074
272 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10245905
rs544908309
273 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs774420692
CA10245908
274 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10245907
rs187816875
274 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1335478207
CA411973690
276 A>P No ClinGen
TOPMed
rs202203713
CA10245911
277 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149718626
CA10245910
277 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761211125
CA10245912
278 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1017228119
CA324166872
281 D>A No ClinGen
Ensembl
CA411973730
rs1278574705
282 F>L No ClinGen
gnomAD
CA411973739
rs1368091637
284 A>T No ClinGen
gnomAD
rs1346989363
CA411973756
286 E>D No ClinGen
gnomAD
CA411973760
rs1569220158
287 D>Y No ClinGen
Ensembl
rs751156654
CA411973771
288 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs267606254
CA324166934
288 D>N No ClinGen
Ensembl
CA411973773
rs1275531139
289 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs993197979
CA324166960
292 F>C No ClinGen
Ensembl
CA411973792
rs1202758094
292 F>L No ClinGen
gnomAD
CA324166968
rs891660620
293 H>R No ClinGen
TOPMed
gnomAD
rs568523300
CA10245919
293 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs777566631
CA10245922
295 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1169777491
CA411973839
296 E>A No ClinGen
gnomAD
rs1440716177
CA411973838
296 E>Q No ClinGen
TOPMed
CA324166983
rs904451886
297 V>M No ClinGen
TOPMed
CA10245923
rs749440958
298 V>M No ClinGen
ExAC
gnomAD
rs1230594443
CA411973866
300 V>A No ClinGen
TOPMed
CA411973862
rs770856671
300 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA10245924
rs770856671
300 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1293157995
CA411973898
305 N>S No ClinGen
TOPMed
CA10245927
rs772583525
307 S>P No ClinGen
ExAC
gnomAD
TCGA novel 308 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776051445
CA10245928
308 W>S No ClinGen
ExAC
gnomAD
rs547943039
CA324167046
309 W>* No ClinGen
1000Genomes
gnomAD
rs1299709569
CA411973932
310 T>N No ClinGen
TOPMed
gnomAD
rs1212836804
CA411973935
311 G>S No ClinGen
gnomAD
rs147808667
CA10245930
312 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10245931
rs201778964
COSM1535447
312 R>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201778964
CA324167082
312 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs147808667
CA411973942
COSM726245
312 R>S lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 314 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10245933
rs765742549
315 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1250405073
CA411973980
318 G>D No ClinGen
gnomAD
VAR_012079
CA324167118
rs12759
319 L>F No ClinGen
UniProt
Ensembl
dbSNP
CA10245936
rs767126287
320 F>L No ClinGen
ExAC
gnomAD
CA411974006
rs1166748581
322 A>V No ClinGen
gnomAD
CA10245937
rs752554043
323 N>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 323 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755847534
CA10245938
324 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1393524015
CA411974021
325 V>M No ClinGen
TOPMed
gnomAD
CA324167134
rs191967755
326 A>S No ClinGen
1000Genomes
CA10245941
rs757386785
327 P>T No ClinGen
ExAC
gnomAD
CA324167158
rs778341181
328 M>I No ClinGen
TOPMed
gnomAD
rs1428734954
CA411974039
328 M>K No ClinGen
TOPMed
gnomAD
CA411974040
rs1428734954
328 M>T No ClinGen
TOPMed
gnomAD
rs745916151
CA10245943
328 M>V No ClinGen
ExAC
gnomAD
CA10245944
rs772467549
330 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA10245945
rs775853641
330 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10245946
rs747468628
331 R>K No ClinGen
ExAC
gnomAD

No associated diseases with O75791

4 regional properties for O75791

Type Name Position InterPro Accession
domain SH2 domain 56 - 149 IPR000980
domain SH3 domain 1 - 56 IPR001452-1
domain SH3 domain 271 - 330 IPR001452-2
domain GRAP2, C-terminal SH3 domain 275 - 327 IPR035646

Functions

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

6 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endosome A vacuole to which materials ingested by endocytosis are delivered.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name Definition
phosphotyrosine residue binding Binding to a phosphorylated tyrosine residue within a protein.

4 GO annotations of biological process

Name Definition
cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
Ras protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A6QLK6 GRAP GRB2-related adapter protein Bos taurus (Bovine) PR
Q07883 GRB2 Growth factor receptor-bound protein 2 Gallus gallus (Chicken) PR
O89100 Grap2 GRB2-related adaptor protein 2 Mus musculus (Mouse) PR
10 20 30 40 50 60
MEAVAKFDFT ASGEDELSFH TGDVLKILSN QEEWFKAELG SQEGYVPKNF IDIQFPKWFH
70 80 90 100 110 120
EGLSRHQAEN LLMGKEVGFF IIRASQSSPG DFSISVRHED DVQHFKVMRD NKGNYFLWTE
130 140 150 160 170 180
KFPSLNKLVD YYRTNSISRQ KQIFLRDRTR EDQGHRGNSL DRRSQGGPHL SGAVGEEIRP
190 200 210 220 230 240
SMNRKLSDHP PTLPLQQHQH QPQPPQYAPA PQQLQQPPQQ RYLQHHHFHQ ERRGGSLDIN
250 260 270 280 290 300
DGHCGTGLGS EMNAALMHRR HTDPVQLQAA GRVRWARALY DFEALEDDEL GFHSGEVVEV
310 320
LDSSNPSWWT GRLHNKLGLF PANYVAPMTR