O75791
Gene name |
GRAP2 (GADS, GRB2L, GRID) |
Protein name |
GRB2-related adapter protein 2 |
Names |
Adapter protein GRID, GRB-2-like protein, GRB2L, GRBLG, GRBX, Grf40 adapter protein, Grf-40, Growth factor receptor-binding protein, Hematopoietic cell-associated adapter protein GrpL, P38, Protein GADS, SH3-SH2-SH3 adapter Mona |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9402 |
EC number |
|
Protein Class |
|
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 |
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. |
| 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 |