Q15057
PR
Gene name |
ACAP2 (CENTB2, KIAA0041) |
Protein name |
Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 |
Names |
Centaurin-beta-2, Cnt-b2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23527 |
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 Q15057
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6IF3 | X-ray | 150 A | A | 601-770 | PDB |
| AF-Q15057-F1 | Predicted | AlphaFoldDB |
436 variants for Q15057
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753325938 CA91185138 CA2764987 |
3 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426008854 CA355875372 |
5 | V>L | No |
ClinGen TOPMed |
|
|
rs1323822261 CA355875344 |
8 | E>D | No |
ClinGen gnomAD |
|
|
CA355875351 rs1402566458 |
8 | E>K | No |
ClinGen TOPMed |
|
|
CA355875301 rs1363243971 |
14 | S>* | No |
ClinGen gnomAD |
|
|
rs1363243971 CA355875303 |
14 | S>L | No |
ClinGen gnomAD |
|
|
CA91185122 rs868461253 |
15 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 16 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 16 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367373253 CA355835251 |
19 | A>E | No |
ClinGen TOPMed |
|
|
rs1577404344 CA355835226 |
23 | E>A | No |
ClinGen Ensembl |
|
|
rs1290455312 CA355835207 |
26 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs529687746 CA90713742 |
32 | E>* | No |
ClinGen Ensembl |
|
|
CA355835159 rs1577404294 |
33 | L>I | No |
ClinGen Ensembl |
|
|
CA355835144 rs1240702097 |
35 | L>F | No |
ClinGen TOPMed |
|
|
CA355835142 rs1238696490 |
35 | L>P | No |
ClinGen gnomAD |
|
|
CA355832850 rs1173829078 |
39 | V>L | No |
ClinGen gnomAD |
|
|
rs779522997 CA2764920 |
42 | C>Y | No |
ClinGen ExAC TOPMed |
|
|
CA2764919 rs758098905 |
43 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA355832822 rs1478508392 |
43 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2764918 rs750685148 |
44 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765712897 CA2764917 |
46 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1434287896 CA355832798 |
46 | I>T | No |
ClinGen TOPMed |
|
|
rs1258898233 CA355832776 |
50 | K>E | No |
ClinGen gnomAD |
|
|
CA355832773 rs1292707698 |
50 | K>R | No |
ClinGen TOPMed |
|
|
CA2764916 rs201703930 |
51 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1461159328 CA355832752 |
52 | F>L | No |
ClinGen gnomAD |
|
|
rs1220771251 CA355832733 |
53 | C>W | No |
ClinGen TOPMed |
|
|
CA2764915 rs754463526 |
54 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1414478957 CA355832614 |
60 | M>I | No |
ClinGen gnomAD |
|
|
rs1560309364 CA355832621 |
60 | M>T | No |
ClinGen Ensembl |
|
|
rs760720158 CA2764913 |
61 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2764911 rs767598111 |
63 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM446210 rs759811991 CA355832562 |
64 | R>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759811991 CA2764910 |
64 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355832557 COSM278573 rs1405156868 |
64 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA355832538 rs1334278081 |
65 | D>E | No |
ClinGen gnomAD |
|
|
rs1287626844 CA355832533 |
66 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 68 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356453754 CA355832506 |
68 | Q>H | No |
ClinGen TOPMed |
|
|
rs772975846 CA2764909 |
69 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA90705355 rs926495940 |
73 | D>G | No |
ClinGen TOPMed |
|
|
CA355832405 rs1166755034 |
75 | V>L | No |
ClinGen gnomAD |
|
|
rs200358208 CA2764907 |
76 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2764906 rs777353687 |
77 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2764887 rs761546967 |
78 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs774414351 CA90704928 |
81 | T>A | No |
ClinGen Ensembl |
|
|
rs776440650 CA2764886 |
81 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1291527574 CA355832319 |
86 | S>N | No |
ClinGen gnomAD |
|
|
rs1278589362 CA355832303 |
88 | Q>L | No |
ClinGen gnomAD |
|
|
CA90704923 rs141761176 COSM1421821 |
89 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
CA355832274 rs1346825393 |
92 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA355824576 rs1242571290 |
96 | I>N | No |
ClinGen TOPMed |
|
|
rs1304979204 CA355824396 |
103 | R>K | No |
ClinGen gnomAD |
|
|
rs1405660586 CA355824359 |
104 | S>* | No |
ClinGen gnomAD |
|
|
rs750725697 CA2764845 |
105 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1371250867 CA355824278 |
107 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1461351216 CA355824266 |
108 | Q>K | No |
ClinGen TOPMed |
|
|
CA2764844 rs763767566 |
111 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752473835 CA2764822 |
115 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1428039712 CA355823221 |
122 | D>G | No |
ClinGen gnomAD |
|
|
rs1430761970 CA355823201 |
124 | K>* | No |
ClinGen gnomAD |
|
|
rs751616683 CA2764819 |
127 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761386232 CA2764814 |
137 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA90680567 rs932931080 |
141 | N>S | No |
ClinGen Ensembl |
|
|
CA355823025 rs1383918461 |
148 | K>E | No |
ClinGen gnomAD |
|
|
rs1376784717 CA355823009 |
150 | H>Y | No |
ClinGen TOPMed |
|
|
CA355822990 rs1293579977 |
152 | V>A | No |
ClinGen TOPMed |
|
|
CA355822994 rs1413904390 |
152 | V>F | No |
ClinGen TOPMed |
|
|
rs776027773 CA2764810 |
155 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA90680559 rs944415401 |
155 | A>T | No |
ClinGen Ensembl |
|
|
CA355822963 rs1170252575 |
156 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772590607 CA2764809 |
157 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs199909122 CA90680550 |
158 | I>F | No |
ClinGen 1000Genomes |
|
|
rs148058534 CA2764808 |
161 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193166900 CA355822934 |
161 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778867636 CA2764807 |
164 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90680538 rs897760774 |
167 | R>* | No |
ClinGen TOPMed |
|
|
CA355822896 rs1245396911 |
167 | R>P | No |
ClinGen gnomAD |
|
|
rs1245396911 CA355822895 |
167 | R>Q | No |
ClinGen gnomAD |
|
|
CA2764806 rs757446403 |
169 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355822881 COSM4149767 rs1407874806 |
169 | I>T | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1461009952 CA355822884 |
169 | I>V | No |
ClinGen gnomAD |
|
|
CA90680531 rs991117468 |
170 | A>T | No |
ClinGen Ensembl |
|
|
rs1251813082 COSM1421818 CA355822866 |
172 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA355822858 rs1227625674 |
173 | Y>N | No |
ClinGen gnomAD |
|
|
CA355822847 rs1362742677 |
174 | V>G | No |
ClinGen gnomAD |
|
|
CA355822837 rs1168157238 |
176 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1464364400 CA355822834 |
176 | Q>R | No |
ClinGen gnomAD |
|
|
CA2764782 rs746730390 |
178 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 180 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780007006 CA2764781 |
183 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1197025885 CA355821878 |
189 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1322081177 CA355820978 |
196 | M>I | No |
ClinGen TOPMed |
|
|
rs1445659114 CA355820984 |
196 | M>L | No |
ClinGen gnomAD |
|
|
CA355820980 rs1447425970 |
196 | M>T | No |
ClinGen gnomAD |
|
|
rs183214752 CA90676799 |
198 | A>V | No |
ClinGen 1000Genomes |
|
|
CA2764756 rs750950926 |
199 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2764754 rs748730443 |
202 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1293604831 CA355820934 |
203 | F>L | No |
ClinGen TOPMed |
|
|
CA2764753 rs777278779 |
204 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA355820645 rs1218164984 |
205 | Q>R | No |
ClinGen gnomAD |
|
|
rs1272441198 CA355820627 |
207 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1272441198 CA355820628 |
207 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2764750 rs755350870 |
209 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270296224 CA355820608 |
210 | F>Y | No |
ClinGen TOPMed |
|
|
rs765479196 CA2764744 |
215 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768081979 CA355820562 |
217 | M>L | No |
ClinGen gnomAD |
|
|
CA90676768 rs768081979 |
217 | M>V | No |
ClinGen gnomAD |
|
|
CA90676767 rs762416946 |
219 | D>A | No |
ClinGen gnomAD |
|
|
CA355820545 rs1213206568 |
219 | D>H | No |
ClinGen TOPMed |
|
|
CA355834278 rs1273111986 |
226 | R>* | No |
ClinGen gnomAD |
|
|
rs1232089082 COSM1042772 CA355834277 |
226 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1043631067 CA90712847 |
230 | D>N | No |
ClinGen Ensembl |
|
|
rs764157270 CA2764724 |
232 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760965824 CA2764723 COSM1042771 |
234 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1226870287 CA355834224 |
235 | K>Q | No |
ClinGen gnomAD |
|
|
CA355834221 rs1238894013 |
235 | K>T | No |
ClinGen gnomAD |
|
|
CA2764722 rs774005395 |
237 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770782815 CA2764721 |
239 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2764719 rs773186552 |
245 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355833206 rs1201050143 |
254 | D>N | No |
ClinGen gnomAD |
|
|
rs1458346290 CA355833155 |
257 | L>V | No |
ClinGen TOPMed |
|
|
CA355833107 rs1344473319 |
260 | N>I | No |
ClinGen gnomAD |
|
|
CA2764688 rs371958084 |
260 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs536667513 CA2764687 |
261 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA90707911 rs1020264470 |
262 | D>E | No |
ClinGen TOPMed |
|
|
rs771881722 CA2764686 |
262 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs746169741 CA355833051 |
265 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2764685 rs746169741 |
265 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355833047 rs1415745453 |
265 | N>S | No |
ClinGen TOPMed |
|
|
CA2764684 rs779433917 |
266 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs754436022 CA2764682 |
267 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs757693507 CA2764683 |
267 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777687187 CA2764681 |
268 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1684913 CA2764680 rs756269231 |
269 | M>I | soft_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 270 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752746824 CA2764679 |
271 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1391355271 CA355832970 |
272 | Y>C | No |
ClinGen gnomAD |
|
|
CA355832944 rs1168274084 |
276 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1169426128 CA355832933 |
278 | S>G | No |
ClinGen TOPMed |
|
|
CA355832922 rs1560239672 |
279 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 282 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 286 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282078543 CA355831163 |
287 | R>C | No |
ClinGen gnomAD |
|
|
rs1229683210 CA355831161 |
287 | R>H | Variant assessed as Somatic; 4.65e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs755186805 CA2764656 |
293 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA355831102 rs1472625170 |
295 | Q>R | No |
ClinGen TOPMed |
|
|
CA355831095 rs1182656680 |
296 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 299 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759881424 CA90699271 |
302 | F>C | No |
ClinGen Ensembl |
|
|
rs1045333391 CA90699294 |
302 | F>I | No |
ClinGen Ensembl |
|
|
CA355831023 rs1388216467 |
304 | D>G | No |
ClinGen gnomAD |
|
|
rs753611302 CA2764634 |
306 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2764633 rs763853925 |
306 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2764630 rs371594921 |
313 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 316 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751150138 CA2764628 |
320 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778252067 CA90698410 |
322 | E>D | No |
ClinGen Ensembl |
|
|
rs1192902382 CA355830890 |
324 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2764626 rs762567847 |
324 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355830887 rs1414751472 |
324 | I>T | No |
ClinGen TOPMed |
|
|
rs913184994 CA90698404 |
326 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770092508 CA90698380 |
332 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770092508 CA2764624 |
332 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs762283121 CA2764623 |
334 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1456274860 CA355830814 |
336 | T>A | No |
ClinGen TOPMed |
|
|
CA2764622 rs777072233 |
337 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1309850569 CA355830787 |
338 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 341 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs946827218 CA90697981 |
343 | A>S | No |
ClinGen TOPMed |
|
|
rs1425149592 CA355830743 |
344 | D>A | No |
ClinGen gnomAD |
|
|
rs191369990 CA2764594 |
346 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1430719740 CA355830715 |
348 | L>Q | No |
ClinGen gnomAD |
|
|
CA355830710 rs1254584476 |
349 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM209355 CA2764593 rs779591643 |
349 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2764592 rs757795576 |
350 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224278279 CA355830652 |
357 | Q>H | No |
ClinGen gnomAD |
|
|
rs756915759 CA2764589 |
359 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2764588 rs754188141 |
360 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs775912047 CA2764585 |
368 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs200377540 CA2764584 |
369 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1254608266 CA355830569 |
370 | E>K | No |
ClinGen Ensembl |
|
|
rs1005497727 CA90697881 |
372 | E>D | No |
ClinGen Ensembl |
|
|
CA2764557 rs764421378 |
373 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355829744 rs1346810819 |
375 | D>E | No |
ClinGen TOPMed |
|
|
rs1421292145 CA355829746 |
375 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1560218855 CA355829750 |
375 | D>Y | No |
ClinGen Ensembl |
|
|
CA2764556 rs756386507 |
376 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA355829715 rs1167246020 |
378 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2764555 rs753139746 |
379 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs767848095 CA2764554 |
381 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1281976066 CA355829677 |
382 | T>A | No |
ClinGen TOPMed |
|
|
CA2764553 rs760106242 |
384 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952709813 CA90694696 |
387 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA90694688 rs773390044 |
388 | G>V | No |
ClinGen Ensembl |
|
|
rs1235384947 CA355829604 |
389 | N>S | No |
ClinGen gnomAD |
|
|
CA355829592 rs1312723103 |
390 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA355829591 rs1312723103 |
390 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA355829519 rs1211617075 |
395 | L>F | No |
ClinGen Ensembl |
|
|
CA355829469 rs1251534406 |
400 | S>G | No |
ClinGen TOPMed |
|
|
CA90694658 rs372969639 |
401 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2764549 COSM1421815 rs773516430 |
401 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA355829434 rs1304103741 |
403 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1382206109 CA355829440 |
403 | Q>P | No |
ClinGen gnomAD |
|
|
CA2764547 rs746713541 |
404 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466971128 CA355829430 |
404 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA355829425 rs1356184702 |
405 | V>I | No |
ClinGen Ensembl |
|
|
rs1158470856 CA355829408 |
406 | Q>R | No |
ClinGen TOPMed |
|
|
CA355829367 rs1432822733 |
410 | G>S | No |
ClinGen TOPMed |
|
|
CA355829356 rs1323732359 |
411 | N>S | No |
ClinGen TOPMed |
|
|
CA355829258 rs1441297647 |
421 | D>E | No |
ClinGen TOPMed |
|
|
rs771889164 CA2764545 |
421 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1460563433 CA355829255 |
422 | P>S | No |
ClinGen gnomAD |
|
|
rs778364213 CA2764543 |
423 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2764544 rs745884671 |
423 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA355829247 rs1374154879 |
424 | W>G | No |
ClinGen TOPMed |
|
|
CA355829248 rs1374154879 |
424 | W>R | No |
ClinGen TOPMed |
|
|
rs1222778650 CA355829230 |
426 | S>N | No |
ClinGen TOPMed |
|
|
rs755798211 CA2764539 |
430 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA355829179 rs1243350120 |
434 | C>R | No |
ClinGen gnomAD |
|
|
rs781665213 CA355829165 |
436 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781665213 CA2764537 |
436 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 439 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372230587 CA2764535 |
439 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2764534 rs566100558 |
440 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1396124846 CA355829129 |
441 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 441 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355829124 rs1311661102 |
442 | R>Q | No |
ClinGen gnomAD |
|
|
CA2764533 rs763083198 |
442 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376425446 CA2764507 |
451 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355829047 rs1180810926 |
452 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA90694154 rs146660675 |
458 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA2764505 rs146660675 |
458 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1210110319 CA355828986 |
461 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1056792854 CA90694148 |
463 | L>F | No |
ClinGen gnomAD |
|
|
CA355828970 rs1577260797 |
463 | L>R | No |
ClinGen Ensembl |
|
|
rs1009979335 CA90694143 |
464 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 467 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161438810 CA355828376 |
467 | M>T | No |
ClinGen gnomAD |
|
|
rs773148966 CA2764472 |
467 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs761349305 CA355828328 |
473 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1426823333 CA355828305 |
477 | R>G | No |
ClinGen TOPMed |
|
|
rs367842609 CA2764469 |
478 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355828293 rs1385383033 |
479 | Y>D | No |
ClinGen gnomAD |
|
| TCGA novel | 486 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560212919 CA355828242 |
486 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 486 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2764468 rs768403126 |
488 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1055688331 CA90691201 |
488 | I>V | No |
ClinGen TOPMed |
|
|
rs868279849 CA90691197 |
491 | P>L | No |
ClinGen Ensembl |
|
|
rs1300073842 CA355828199 |
492 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 496 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 501 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355828073 rs1293808565 |
508 | V>M | No |
ClinGen gnomAD |
|
|
CA2764452 rs750220470 |
510 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1421812 rs140610018 CA2764451 |
511 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs761707480 CA2764450 |
514 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA355828020 rs1353553777 |
515 | K>T | No |
ClinGen gnomAD |
|
|
CA2764449 rs776177485 |
516 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA355828007 COSM384054 rs763765218 |
517 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA355828006 rs763765218 |
517 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs763765218 CA2764448 |
517 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1417884562 CA355828004 |
518 | I>V | No |
ClinGen gnomAD |
|
|
rs1254615820 CA355827975 |
522 | P>L | No |
ClinGen gnomAD |
|
|
CA2764447 rs760391141 |
522 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355827978 rs760391141 |
522 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 524 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1560211584 | 528 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2764445 rs753677703 |
528 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355827918 rs1335765759 |
530 | V>A | No |
ClinGen gnomAD |
|
|
CA2764443 rs774599513 |
530 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355827913 rs1423597254 |
531 | S>Y | No |
ClinGen TOPMed |
|
|
CA2764440 rs777821919 |
533 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 534 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332570105 CA355827885 |
535 | E>G | No |
ClinGen gnomAD |
|
|
CA90690377 rs200135680 |
536 | E>G | No |
ClinGen Ensembl |
|
|
CA90690376 rs554348705 |
538 | R>M | No |
ClinGen 1000Genomes |
|
|
rs1290207233 CA355827852 |
540 | S>N | No |
ClinGen gnomAD |
|
|
CA355827847 rs1391725454 |
541 | I>V | No |
ClinGen gnomAD |
|
|
CA355827838 rs1372407379 |
542 | S>A | No |
ClinGen gnomAD |
|
|
CA355827822 rs1296259512 |
544 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2764439 rs769915926 |
545 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA355827811 rs1330799292 |
546 | P>S | No |
ClinGen TOPMed |
|
|
CA2764438 rs748235819 |
548 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA355827799 rs1401081211 |
548 | D>Y | No |
ClinGen TOPMed |
|
|
CA90690358 rs373602058 |
550 | V>F | No |
ClinGen ESP |
|
|
CA355827760 rs1459469323 |
551 | R>G | No |
ClinGen gnomAD |
|
|
rs781355411 CA90690352 |
552 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2764437 rs781355411 |
552 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA355827709 rs1442633842 |
554 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs750212148 CA2764435 |
555 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA2764434 rs778614539 |
557 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1193290814 CA355827659 |
558 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355827438 rs1165790279 |
563 | S>G | No |
ClinGen gnomAD |
|
|
rs1475456896 CA355827434 |
563 | S>N | No |
ClinGen gnomAD |
|
|
CA90689738 rs17855020 |
564 | G>E | No |
ClinGen gnomAD |
|
|
CA90689760 rs17855020 |
564 | G>V | No |
ClinGen gnomAD |
|
|
CA2764403 rs776689471 |
568 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2764402 rs768677851 |
568 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1250764891 CA355827272 |
571 | D>V | No |
ClinGen gnomAD |
|
|
rs747126092 CA2764401 |
572 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2764400 rs775509285 |
573 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1233379693 CA355827197 |
575 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs199880858 CA90689694 |
575 | S>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1577249531 CA355827187 |
576 | L>F | No |
ClinGen Ensembl |
|
|
CA355827191 rs1486015702 |
576 | L>S | No |
ClinGen TOPMed |
|
|
CA2764399 rs139056381 |
579 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1444779514 CA355827151 |
580 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355827153 rs1444779514 |
580 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA355827134 rs1560210080 |
581 | S>* | No |
ClinGen Ensembl |
|
|
rs558456301 CA2764395 |
583 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1577249438 CA355827068 |
586 | Y>* | No |
ClinGen Ensembl |
|
|
CA90689633 rs915549814 |
586 | Y>F | No |
ClinGen Ensembl |
|
|
rs1455923653 CA355827034 |
589 | E>K | No |
ClinGen TOPMed |
|
|
rs754969698 CA2764373 |
590 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs146659946 CA2764371 |
591 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355826926 rs1453447611 |
594 | D>A | No |
ClinGen gnomAD |
|
|
CA2764370 rs779657743 |
595 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355826908 rs1448023833 |
597 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758044240 CA2764368 |
600 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs143295502 CA2764366 |
601 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750135305 CA2764367 |
601 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs143295502 CA355826879 |
601 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2764363 rs202209364 |
603 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754262005 CA2764364 |
603 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs139865523 CA2764362 |
605 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355826837 rs1209804156 |
608 | L>F | No |
ClinGen TOPMed |
|
|
rs144083320 CA2764361 |
609 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1264279102 CA355826830 |
609 | Q>R | No |
ClinGen TOPMed |
|
|
CA355826816 rs1285115394 |
611 | Y>C | No |
ClinGen gnomAD |
|
|
rs1431724933 CA355826819 |
611 | Y>H | No |
ClinGen TOPMed |
|
|
CA2764360 rs767771029 |
612 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs149500040 CA355826803 |
613 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149500040 CA2764359 |
613 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761656805 CA2764356 |
617 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2764354 rs112375796 |
618 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2764355 rs112375796 |
618 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747036309 CA2764353 |
620 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 622 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 624 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2764352 rs779418878 |
625 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1288942884 CA355826724 |
625 | A>T | No |
ClinGen gnomAD |
|
|
rs571392066 CA90687605 |
628 | H>Y | No |
ClinGen 1000Genomes |
|
| TCGA novel | 630 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771514397 CA355826664 |
631 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90687595 rs1046428099 |
632 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs773723643 CA90687592 |
635 | A>V | No |
ClinGen Ensembl |
|
|
rs771923352 CA355826593 |
637 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs771923352 CA2764350 |
637 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2764349 rs546719175 COSM73548 |
642 | A>V | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs370854165 CA2764347 |
644 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1332423094 CA355826486 |
646 | I>L | No |
ClinGen TOPMed |
|
|
rs1215210433 CA355826477 |
646 | I>T | No |
ClinGen gnomAD |
|
|
rs1332423094 CA355826485 |
646 | I>V | No |
ClinGen TOPMed |
|
|
CA355826348 rs539598045 |
652 | G>A | No |
ClinGen gnomAD |
|
|
rs539598045 CA90687264 |
652 | G>V | No |
ClinGen gnomAD |
|
|
rs150790981 CA2764325 |
656 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777709903 CA2764323 |
658 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560206404 CA355826266 |
664 | G>D | No |
ClinGen Ensembl |
|
|
rs766637433 CA2764321 |
667 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224245512 CA355826249 |
667 | V>I | No |
ClinGen TOPMed |
|
|
CA2764320 rs763075303 |
668 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90687199 rs1024831861 |
669 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 671 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308798437 CA355826214 |
672 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2764319 rs750603565 |
673 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs760480509 CA2764317 |
675 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2764318 rs765383587 |
675 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs879132555 CA90687173 |
676 | G>A | No |
ClinGen Ensembl |
|
|
CA2764316 rs775287461 |
679 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA2764315 rs767420965 |
679 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA355826173 rs1324675215 |
679 | H>Y | No |
ClinGen gnomAD |
|
|
CA355826129 rs143018690 |
683 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2764313 rs143018690 |
683 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs888367247 | 688 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2764289 rs777124456 |
690 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2764287 rs371627874 |
693 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 697 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780570592 CA2764286 |
699 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355825379 rs1415849657 |
700 | Q>H | No |
ClinGen gnomAD |
|
|
CA355825374 rs1577239037 |
701 | H>D | No |
ClinGen Ensembl |
|
|
rs139073809 CA2764285 |
704 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461941589 CA355825308 |
706 | E>K | No |
ClinGen gnomAD |
|
|
CA2764284 rs745940118 |
707 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs778900639 CA2764283 |
708 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA355825270 rs1577238975 |
709 | D>A | No |
ClinGen Ensembl |
|
|
rs944651047 CA90685436 |
710 | P>S | No |
ClinGen TOPMed |
|
|
CA355825222 rs1317812823 |
716 | E>D | No |
ClinGen TOPMed |
|
|
CA2764282 rs757495309 |
717 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1215496559 CA355825210 |
718 | A>V | No |
ClinGen TOPMed |
|
|
CA2764281 rs754114645 |
719 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2764280 rs777983830 |
722 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1189795535 CA355825136 |
724 | T>S | No |
ClinGen gnomAD |
|
|
CA355824492 rs1197419362 |
727 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 727 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA90682958 rs561098631 |
730 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2764260 rs561098631 |
730 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355824353 rs1214818848 |
736 | R>Q | No |
ClinGen gnomAD |
|
|
rs867497776 CA90682950 |
736 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA355824280 rs1356269294 |
741 | L>P | No |
ClinGen gnomAD |
|
|
rs1241701860 CA355824265 |
742 | Y>F | No |
ClinGen gnomAD |
|
|
rs1577232879 CA355824274 |
742 | Y>H | No |
ClinGen Ensembl |
|
|
rs1577232859 CA355824223 |
745 | P>Q | No |
ClinGen Ensembl |
|
|
CA355824219 rs1442216895 |
746 | G>S | No |
ClinGen TOPMed |
|
|
CA355823587 rs1435931966 |
746 | G>V | No |
ClinGen gnomAD |
|
|
CA2764242 rs775919980 |
755 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2764240 rs371113193 |
755 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2764241 rs371113193 |
755 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355823513 rs775919980 |
755 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355823492 rs1560193445 |
757 | F>I | No |
ClinGen Ensembl |
|
|
CA355823451 COSM1537398 rs1157829462 |
760 | M>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 761 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 763 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373402885 CA2764239 |
763 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771459124 CA2764238 |
764 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 766 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355823382 rs1437523798 |
766 | E>G | No |
ClinGen TOPMed |
|
|
CA355823359 rs1047818610 |
768 | L>P | No |
ClinGen gnomAD |
|
|
rs1047818610 CA90680848 |
768 | L>Q | No |
ClinGen gnomAD |
|
|
CA355823343 rs1245463540 |
770 | R>C | No |
ClinGen gnomAD |
|
|
rs147239672 COSM4149765 CA2764235 |
770 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA355823341 rs1245463540 |
770 | R>S | No |
ClinGen gnomAD |
|
|
rs899292995 CA355823322 |
771 | F>C | No |
ClinGen gnomAD |
|
|
rs899292995 CA90680843 |
771 | F>Y | No |
ClinGen gnomAD |
|
|
CA355823307 rs1445408987 |
772 | Q>H | No |
ClinGen gnomAD |
|
|
rs78454707 CA90680836 |
774 | D>Y | No |
ClinGen Ensembl |
|
|
CA2764234 rs748383339 |
777 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA355823222 rs1214977875 |
778 | F>L | No |
ClinGen gnomAD |
|
|
rs531675265 CA90680829 |
778 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 779 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q15057
5 regional properties for Q15057
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Arf GTPase activating protein | 399 - 520 | IPR001164 |
| domain | Pleckstrin homology domain | 266 - 363 | IPR001849 |
| repeat | Ankyrin repeat | 610 - 705 | IPR002110-1 |
| repeat | Ankyrin repeat | 706 - 735 | IPR002110-2 |
| domain | BAR domain | 5 - 238 | IPR004148 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endosome membrane | The lipid bilayer surrounding an endosome. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| metal ion binding | Binding to a metal ion. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament-based process | Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. |
| cellular response to nerve growth factor stimulus | A process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nerve growth factor stimulus. |
| endocytic recycling | The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A5PK26 | ACAP1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Bos taurus (Bovine) | SS |
| O97902 | ASAP1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Bos taurus (Bovine) | SS |
| A1Z7A6 | Asap | ArfGAP with SH3 domain, ANK repeat and PH domain-containing protein | Drosophila melanogaster (Fruit fly) | SS |
| O43150 | ASAP2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | Homo sapiens (Human) | SS |
| Q8TDY4 | ASAP3 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 | Homo sapiens (Human) | SS |
| Q9ULH1 | ASAP1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Homo sapiens (Human) | EV |
| Q15027 | ACAP1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Homo sapiens (Human) | EV |
| Q5U464 | Asap3 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 | Mus musculus (Mouse) | SS |
| Q7SIG6 | Asap2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | SS |
| Q9QWY8 | Asap1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q8K2H4 | Acap1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q6ZQK5 | Acap2 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | PR |
| Q1AAU6 | Asap1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Rattus norvegicus (Rat) | SS |
| Q9C6C3 | AGD2 | ADP-ribosylation factor GTPase-activating protein AGD2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SMX5 | AGD4 | ADP-ribosylation factor GTPase-activating protein AGD4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKMTVDFEEC | LKDSPRFRAA | LEEVEGDVAE | LELKLDKLVK | LCIAMIDTGK | AFCVANKQFM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NGIRDLAQYS | SNDAVVETSL | TKFSDSLQEM | INFHTILFDQ | TQRSIKAQLQ | NFVKEDLRKF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KDAKKQFEKV | SEEKENALVK | NAQVQRNKQH | EVEEATNILT | ATRKCFRHIA | LDYVLQINVL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QSKRRSEILK | SMLSFMYAHL | AFFHQGYDLF | SELGPYMKDL | GAQLDRLVVD | AAKEKREMEQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KHSTIQQKDF | SSDDSKLEYN | VDAANGIVME | GYLFKRASNA | FKTWNRRWFS | IQNNQLVYQK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KFKDNPTVVV | EDLRLCTVKH | CEDIERRFCF | EVVSPTKSCM | LQADSEKLRQ | AWIKAVQTSI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ATAYREKGDE | SEKLDKKSSP | STGSLDSGNE | SKEKLLKGES | ALQRVQCIPG | NASCCDCGLA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DPRWASINLG | ITLCIECSGI | HRSLGVHFSK | VRSLTLDTWE | PELLKLMCEL | GNDVINRVYE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ANVEKMGIKK | PQPGQRQEKE | AYIRAKYVER | KFVDKYSISL | SPPEQQKKFV | SKSSEEKRLS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ISKFGPGDQV | RASAQSSVRS | NDSGIQQSSD | DGRESLPSTV | SANSLYEPEG | ERQDSSMFLD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SKHLNPGLQL | YRASYEKNLP | KMAEALAHGA | DVNWANSEEN | KATPLIQAVL | GGSLVTCEFL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LQNGANVNQR | DVQGRGPLHH | ATVLGHTGQV | CLFLKRGANQ | HATDEEGKDP | LSIAVEAANA |
| 730 | 740 | 750 | 760 | 770 | |
| DIVTLLRLAR | MNEEMRESEG | LYGQPGDETY | QDIFRDFSQM | ASNNPEKLNR | FQQDSQKF |