O75122
Gene name |
CLASP2 (KIAA0627) |
Protein name |
CLIP-associating protein 2 |
Names |
Cytoplasmic linker-associated protein 2, Protein Orbit homolog 2, hOrbit2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23122 |
EC number |
|
Protein Class |
CLASP (PTHR21567) |

Descriptions
CLASPs, major microtubule-stabilizing factors in interphase and mitosis, prevent microtubule from switching form growth to shortening by stabilizing growing microtubule ends, and thus suppress microtubule catastrophes. CLASP2a consists of three TOG-like domains (termed TOG1, 2, and 3) and a C-terminal domain, CLIP-interacting domain (CLIP-ID) responsible for interaction with CLIP-170 and other partners. CLASP2a TOG2 is necessary and sufficient for catastrophe inhibition. The inhibition function is suppressed by the C-terminal domain CLIP-ID while the TOG1 domain or the CLIP-ID partner binding to CLIP-ID can release the autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
647-885 (TOG2 domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure

3 structures for O75122
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
3WOY | X-ray | 210 A | A | 60-310 | PDB |
5NR4 | X-ray | 120 A | A/B | 1111-1275 | PDB |
AF-O75122-F1 | Predicted | AlphaFoldDB |
679 variants for O75122
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA2303154 rs757571044 |
3 | M>V | No |
ClinGen ExAC gnomAD |
|
CA352304172 rs1241673891 |
5 | D>E | No |
ClinGen gnomAD |
|
rs1207470392 CA352030581 |
6 | D>V | No |
ClinGen TOPMed |
|
CA2303126 rs371694459 |
9 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs867247245 CA72754865 |
11 | D>Y | No |
ClinGen Ensembl |
|
CA352030536 rs1379398655 |
12 | E>G | No |
ClinGen gnomAD |
|
CA352030527 rs1465420591 |
13 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA2303125 rs765153363 |
13 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA2303124 rs368155880 |
15 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs776443036 CA2303123 |
16 | D>G | No |
ClinGen ExAC gnomAD |
|
CA352030514 rs1174788989 |
16 | D>Y | No |
ClinGen gnomAD |
|
rs1452107033 CA352030482 |
20 | P>L | No |
ClinGen gnomAD |
|
rs749923775 CA72754841 |
23 | A>G | No |
ClinGen Ensembl |
|
rs368159421 CA72754836 |
24 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs368159421 CA352030463 |
24 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA2303120 rs374632684 |
24 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs771193783 CA2303119 |
26 | A>T | No |
ClinGen ExAC gnomAD |
|
CA352030443 rs1455403549 |
27 | F>C | No |
ClinGen TOPMed |
|
rs1575197140 CA352030433 |
28 | K>N | No |
ClinGen Ensembl |
|
rs1272453710 CA352030436 |
28 | K>R | No |
ClinGen gnomAD |
|
rs1345643464 CA352030431 |
29 | V>L | No |
ClinGen gnomAD |
|
CA72754785 rs959577768 |
32 | P>L | No |
ClinGen Ensembl |
|
rs1431754285 CA352030401 |
34 | T>P | No |
ClinGen Ensembl |
|
CA2303118 rs749536394 |
36 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1316940201 CA352030371 |
38 | P>L | No |
ClinGen TOPMed |
|
CA352030370 rs1310222949 |
39 | A>P | No |
ClinGen gnomAD |
|
CA72754743 rs978086763 |
41 | S>N | No |
ClinGen TOPMed |
|
rs748487007 CA2303115 |
43 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1318270540 CA352030330 |
44 | K>N | No |
ClinGen TOPMed |
|
rs781615494 CA2303114 |
51 | P>S | No |
ClinGen ExAC gnomAD |
|
rs566010531 CA2303112 |
52 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs755478813 CA2303113 |
52 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1559464799 CA352029120 |
55 | G>D | No |
ClinGen Ensembl |
|
CA2303090 rs745354490 |
56 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1342975907 CA352029097 |
57 | S>Y | No |
ClinGen gnomAD |
|
CA72744524 rs964314164 |
61 | G>S | No |
ClinGen TOPMed |
|
COSM4915616 COSM4915614 rs1174055064 COSM4915615 CA352029043 |
62 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs1405620358 CA352029033 |
62 | A>V | No |
ClinGen gnomAD |
|
CA352029007 rs1162536220 |
65 | V>I | No |
ClinGen gnomAD |
|
CA2303088 rs756907900 |
68 | D>G | No |
ClinGen ExAC gnomAD |
|
CA72744517 rs914492550 |
71 | I>M | No |
ClinGen gnomAD |
|
rs1192920835 CA352028824 |
78 | P>R | No |
ClinGen gnomAD |
|
rs753628605 CA2303087 |
80 | I>L | No |
ClinGen ExAC gnomAD |
|
rs1248556708 CA352028792 |
81 | Q>R | No |
ClinGen gnomAD |
|
rs749004043 CA2303063 |
82 | I>V | No |
ClinGen ExAC gnomAD |
|
rs976613437 CA72740283 |
84 | S>C | No |
ClinGen Ensembl |
|
rs1305930247 CA352027852 |
89 | E>K | No |
ClinGen gnomAD |
|
CA352027839 rs1415483360 |
90 | E>V | No |
ClinGen TOPMed |
|
CA72740268 rs546215585 |
91 | T>R | No |
ClinGen 1000Genomes |
|
rs755952130 CA2303061 |
95 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1577400562 CA352027716 |
107 | D>Y | No |
ClinGen Ensembl |
|
rs754887404 CA2303058 |
110 | A>T | No |
ClinGen ExAC gnomAD |
|
CA2303056 rs79585335 |
111 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA352027637 rs1456850477 |
112 | A>V | No |
ClinGen gnomAD |
|
rs1393129626 CA352026141 |
122 | A>T | No |
ClinGen TOPMed |
|
CA2303040 rs769327926 |
122 | A>V | No |
ClinGen ExAC gnomAD |
|
rs747984696 CA2303039 |
124 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1460264982 CA352026062 |
126 | Q>R | No |
ClinGen gnomAD |
|
rs559091295 CA2303037 |
127 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA352025934 rs1341557805 |
129 | C>G | No |
ClinGen TOPMed |
|
CA352025747 rs1428561036 |
134 | L>S | No |
ClinGen gnomAD |
|
CA2303033 rs753854739 |
141 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1230429564 CA352025520 |
143 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA2303032 rs764414007 |
143 | L>H | No |
ClinGen ExAC gnomAD |
|
CA72736736 rs901622387 |
145 | A>T | No |
ClinGen TOPMed |
|
CA352025321 rs1259879101 |
152 | V>A | No |
ClinGen gnomAD |
|
rs752922489 CA2303030 |
161 | A>V | No |
ClinGen ExAC gnomAD |
|
CA352024533 rs1391254967 |
162 | H>N | No |
ClinGen gnomAD |
|
CA352024438 rs1325737427 |
165 | T>A | No |
ClinGen gnomAD |
|
CA2303011 rs767793432 |
166 | V>L | No |
ClinGen ExAC gnomAD |
|
rs865951508 CA72734903 |
168 | G>* | No |
ClinGen Ensembl |
|
rs1181603301 CA352024403 |
168 | G>A | No |
ClinGen TOPMed |
|
CA352024393 rs1559410901 |
169 | N>Y | No |
ClinGen Ensembl |
|
rs763390842 CA352024288 |
175 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2303007 rs763390842 |
175 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA72734856 rs868790455 |
177 | A>V | No |
ClinGen Ensembl |
|
rs1381860069 CA352024199 |
180 | P>H | No |
ClinGen gnomAD |
|
CA72734849 rs963434755 |
182 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs370502005 CA2303002 |
186 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
CA72734818 rs868656871 |
187 | P>T | No |
ClinGen Ensembl |
|
rs1360504420 CA352024064 |
188 | N>S | No |
ClinGen TOPMed |
|
rs1279735854 CA352023949 |
195 | T>A | No |
ClinGen gnomAD |
|
CA72734816 rs1012467186 |
196 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs1232293745 CA352023891 |
197 | G>A | No |
ClinGen gnomAD |
|
rs1301996216 CA352023834 |
199 | A>V | No |
ClinGen TOPMed |
|
rs1056110549 CA72734804 |
200 | A>V | No |
ClinGen TOPMed |
|
rs377648606 CA72734787 |
201 | I>V | No |
ClinGen ESP gnomAD |
|
CA352023723 rs1334394669 |
204 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA352023696 rs1315388584 |
205 | I>V | No |
ClinGen gnomAD |
|
rs1375457974 CA352023674 |
206 | R>Q | No |
ClinGen gnomAD |
|
rs1397144928 CA352023677 |
206 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA352021456 rs1164787405 |
208 | T>S | No |
ClinGen gnomAD |
|
CA72729274 rs765604762 |
209 | H>R | No |
ClinGen Ensembl |
|
CA72729268 rs944770084 |
214 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA72729260 rs930840568 |
217 | I>V | No |
ClinGen gnomAD |
|
rs774491582 CA2302977 |
218 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755067579 CA2302973 |
228 | V>M | No |
ClinGen ExAC gnomAD |
|
CA2302948 rs746275758 |
231 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302947 rs779268624 |
233 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1174447608 CA352020438 |
234 | E>K | No |
ClinGen gnomAD |
|
rs1220044146 CA352020417 |
235 | F>V | No |
ClinGen TOPMed gnomAD |
|
CA72727734 rs909528559 |
237 | D>G | No |
ClinGen Ensembl |
|
CA352020373 rs1374798663 |
237 | D>Y | No |
ClinGen TOPMed |
|
rs778196993 CA352020324 |
238 | L>F | No |
ClinGen ExAC gnomAD |
|
CA2302943 rs558837241 |
242 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752250877 CA2302942 |
245 | T>S | No |
ClinGen ExAC gnomAD |
|
CA352020100 rs1559363216 |
249 | E>K | No |
ClinGen Ensembl |
|
CA2302925 rs756614560 |
251 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA2302922 rs751268788 |
252 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780778763 CA2302923 |
252 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780778763 CA2302924 |
252 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751268788 CA2302921 |
252 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370720523 CA2302918 |
254 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765132307 CA2302917 |
259 | I>V | No |
ClinGen ExAC gnomAD |
|
rs374242633 CA2302916 |
263 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
COSM1154137 rs1196556763 CA352019011 COSM1043773 |
264 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs776390048 CA2302915 |
267 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1013537237 CA72726982 |
268 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1013537237 CA72726984 |
268 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs759558003 CA2302913 |
269 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1360404789 CA352018917 |
270 | A>G | No |
ClinGen gnomAD |
|
CA352018890 rs1176230654 |
272 | V>L | No |
ClinGen gnomAD |
|
CA2302911 rs771142357 |
274 | A>T | No |
ClinGen ExAC gnomAD |
|
CA352018733 rs1467079440 |
279 | M>I | No |
ClinGen gnomAD |
|
rs1560279806 CA352018746 |
279 | M>V | No |
ClinGen Ensembl |
|
rs1253065344 CA352018715 |
280 | G>A | No |
ClinGen TOPMed gnomAD |
|
CA352018717 rs1253065344 |
280 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1577103889 CA352018695 |
282 | R>G | No |
ClinGen Ensembl |
|
rs1217868995 CA352018675 |
283 | N>D | No |
ClinGen TOPMed |
|
rs1577103806 CA916867108 |
284 | H>LT* | No |
ClinGen Ensembl |
|
rs1265933589 CA352018638 |
284 | H>Q | No |
ClinGen TOPMed |
|
rs763927614 CA2302894 |
285 | F>L | No |
ClinGen ExAC gnomAD |
|
rs774386519 CA2302892 |
286 | P>A | No |
ClinGen ExAC gnomAD |
|
CA352018605 rs1236795116 |
286 | P>L | No |
ClinGen gnomAD |
|
rs774386519 CA72726703 |
286 | P>S | No |
ClinGen ExAC gnomAD |
|
rs766638013 CA2302891 |
287 | G>C | No |
ClinGen ExAC gnomAD |
|
rs1325661085 CA352018597 |
287 | G>D | No |
ClinGen gnomAD |
|
CA352018574 rs1439250810 |
288 | E>D | No |
ClinGen gnomAD |
|
CA352018560 rs1487631325 |
289 | A>V | No |
ClinGen TOPMed |
|
CA352018527 rs1190379219 |
291 | T>I | No |
ClinGen TOPMed |
|
rs1560279155 CA352018471 |
295 | S>F | No |
ClinGen Ensembl |
|
CA72726686 rs928793982 |
296 | L>V | No |
ClinGen Ensembl |
|
CA2302887 rs372430834 |
299 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2302885 rs769254869 |
305 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA352018317 rs1192760819 |
306 | T>I | No |
ClinGen gnomAD |
|
rs1431274484 CA352018307 |
307 | Y>C | No |
ClinGen gnomAD |
|
rs1252535258 CA352018249 |
309 | K>N | No |
ClinGen gnomAD |
|
CA2302882 rs757938141 |
311 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778369057 CA2302880 |
312 | G>D | No |
ClinGen ExAC gnomAD |
|
CA2302878 rs753573345 |
313 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1232523497 CA352018165 |
314 | V>I | No |
ClinGen gnomAD |
|
CA2302877 rs777731757 |
318 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352017963 rs1577102244 |
326 | S>G | No |
ClinGen Ensembl |
|
rs1305633067 CA352017887 |
330 | S>G | No |
ClinGen gnomAD |
|
rs778696774 CA2302862 |
333 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1331423082 CA352017491 |
339 | W>C | No |
ClinGen TOPMed |
|
CA72725517 rs989750283 |
341 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs1167067440 CA352017473 |
341 | T>I | No |
ClinGen gnomAD |
|
rs867903898 CA72725513 |
342 | A>E | No |
ClinGen Ensembl |
|
rs770462470 CA2302861 |
343 | N>S | No |
ClinGen ExAC gnomAD |
|
CA72725506 rs1020032312 |
346 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs1185619871 CA352017366 |
347 | V>M | No |
ClinGen gnomAD |
|
rs1448951033 CA352017342 |
348 | A>T | No |
ClinGen gnomAD |
|
CA72725502 rs867062218 |
348 | A>V | No |
ClinGen Ensembl |
|
CA352017294 rs1262763880 |
349 | G>E | No |
ClinGen gnomAD |
|
rs749160482 CA2302860 |
350 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs371576065 CA2302843 |
353 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2302842 rs748925105 |
354 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs566311938 CA2302840 |
355 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA352016018 rs1321549919 |
358 | A>V | No |
ClinGen gnomAD |
|
rs979158877 CA72724947 |
359 | S>G | No |
ClinGen gnomAD |
|
rs979158877 CA352016015 |
359 | S>R | No |
ClinGen gnomAD |
|
rs1313375624 CA352016012 |
359 | S>T | No |
ClinGen gnomAD |
|
rs1397326377 CA352015991 |
362 | P>L | No |
ClinGen gnomAD |
|
CA2302839 rs747926848 |
363 | G>A | No |
ClinGen ExAC gnomAD |
|
rs117166070 CA2302838 |
364 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2302837 rs754847355 |
365 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1454149289 CA352015967 |
366 | Q>H | No |
ClinGen TOPMed gnomAD |
|
COSM1201267 COSM1201266 CA2302833 rs754123905 |
369 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1007994485 CA72724915 |
371 | D>V | No |
ClinGen Ensembl |
|
rs764395392 CA2302832 |
373 | D>G | No |
ClinGen ExAC gnomAD |
|
CA352015812 rs1234708793 |
382 | A>V | No |
ClinGen gnomAD |
|
CA2302828 rs759987017 |
383 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1577059518 CA352015788 |
384 | H>R | No |
ClinGen Ensembl |
|
CA352015780 rs1444305120 |
385 | A>T | No |
ClinGen gnomAD |
|
rs200748001 CA352015721 |
390 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200748001 CA2302827 |
390 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs199696785 CA2302825 |
391 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1377483421 CA352015698 |
392 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA2302823 rs776348001 |
393 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA2302821 rs371555607 |
394 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2302822 rs371555607 |
394 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA72724863 rs943890442 |
394 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA352015672 rs371555607 |
394 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA352015659 rs1470802152 |
395 | L>V | No |
ClinGen gnomAD |
|
CA352015646 rs1276741959 |
396 | G>R | No |
ClinGen TOPMed |
|
rs768458478 CA2302820 |
397 | A>T | No |
ClinGen ExAC gnomAD |
|
rs779980704 CA2302818 |
398 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302819 rs779980704 |
398 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302817 rs757335504 |
399 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1481809464 CA352015611 |
399 | A>T | No |
ClinGen gnomAD |
|
CA352015596 rs1311330073 |
400 | L>V | No |
ClinGen gnomAD |
|
CA352015552 rs1225316008 |
403 | G>D | No |
ClinGen gnomAD |
|
rs376410378 CA2302816 |
405 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1736243 COSM1736241 CA2302815 COSM1736242 rs778183956 |
406 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
CA2302813 rs752922345 |
408 | L>R | No |
ClinGen ExAC gnomAD |
|
CA352012538 rs1247062204 |
410 | D>V | No |
ClinGen TOPMed |
|
CA72720330 rs868651277 |
417 | G>* | No |
ClinGen Ensembl |
|
CA352011444 rs1397285719 |
419 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA352011446 rs1397285719 |
419 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1477986645 CA352011427 |
420 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs1164952127 CA352011389 |
424 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs774491937 CA2302711 |
424 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1259573321 CA352011374 |
427 | A>T | No |
ClinGen TOPMed |
|
rs925310510 CA72717060 |
427 | A>V | No |
ClinGen TOPMed |
|
CA2302709 rs201388522 |
430 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA72717035 rs900282191 |
432 | P>L | No |
ClinGen TOPMed |
|
rs1449892152 CA352011342 |
432 | P>S | No |
ClinGen gnomAD |
|
rs748326148 CA72717012 |
435 | G>D | No |
ClinGen Ensembl |
|
COSM4116983 rs773840527 COSM4116984 CA2302708 COSM4116982 |
436 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
CA72716984 rs923179774 |
438 | N>Y | No |
ClinGen TOPMed |
|
rs770174015 CA352011301 |
439 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770174015 CA2302707 |
439 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747713025 CA2302706 |
440 | K>R | No |
ClinGen ExAC gnomAD |
|
CA352011271 rs780874039 |
443 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302705 rs780874039 |
443 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768212793 CA2302704 |
447 | S>R | No |
ClinGen ExAC gnomAD |
|
CA72716965 rs572553856 |
447 | S>T | No |
ClinGen 1000Genomes |
|
COSM2984527 CA2302703 rs554149266 COSM3823695 COSM2984528 |
448 | R>Q | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs779555760 CA2302702 |
449 | T>R | No |
ClinGen ExAC gnomAD |
|
CA352011230 rs1398293357 |
450 | K>I | No |
ClinGen TOPMed |
|
CA72716925 rs758276495 CA2302701 |
451 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1047647670 CA72716931 |
451 | M>L | No |
ClinGen Ensembl |
|
rs1201399275 CA352011224 |
451 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA352011186 rs778958119 |
457 | P>A | No |
ClinGen ExAC gnomAD |
|
rs778958119 CA2302699 |
457 | P>S | No |
ClinGen ExAC gnomAD |
|
CA2302677 rs751564793 |
460 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs755117690 CA2302678 |
460 | R>W | No |
ClinGen ExAC gnomAD |
|
rs763108253 CA2302675 |
470 | T>I | No |
ClinGen ExAC gnomAD |
|
CA2302674 rs750621692 |
471 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352028182 COSM4116979 rs1576785703 COSM4116980 COSM4116981 |
472 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl |
CA352028152 rs1456729794 |
477 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA352028151 rs1382903949 |
477 | S>N | No |
ClinGen gnomAD |
|
rs762251812 CA2302672 |
478 | S>P | No |
ClinGen ExAC gnomAD |
|
CA352028141 rs1374021174 |
479 | G>S | No |
ClinGen TOPMed |
|
CA2302671 rs777340686 |
480 | V>I | No |
ClinGen ExAC gnomAD |
|
CA2302670 rs767546200 |
484 | L>M | No |
ClinGen ExAC gnomAD |
|
rs938232578 CA72723105 |
486 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA352028066 rs1281517976 |
491 | Q>* | No |
ClinGen gnomAD |
|
rs770770692 CA2302664 |
492 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA2302663 rs749078873 |
492 | K>T | No |
ClinGen ExAC gnomAD |
|
COSM3774938 COSM3774937 COSM3774936 CA352028054 rs777731869 |
493 | R>G | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA2302661 rs756027315 |
495 | K>N | No |
ClinGen ExAC gnomAD |
|
CA352028017 rs1429946321 |
498 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs780032238 CA2302659 |
498 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352027999 rs1560158913 |
501 | G>S | No |
ClinGen Ensembl |
|
CA2302658 rs758442813 |
502 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302657 rs750666804 |
506 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302656 rs765548402 |
507 | S>N | No |
ClinGen ExAC gnomAD |
|
rs757733632 CA2302655 |
507 | S>R | No |
ClinGen ExAC gnomAD |
|
CA352027943 rs1391171236 |
509 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs931437554 CA72723051 |
513 | V>G | No |
ClinGen Ensembl |
|
rs374516433 CA2302613 |
514 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA352027443 rs1322814619 |
516 | S>N | No |
ClinGen gnomAD |
|
rs776469505 CA2302612 |
518 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA2302611 rs776469505 |
518 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768612053 CA2302609 |
521 | R>* | No |
ClinGen ExAC gnomAD |
|
rs572837521 CA72721738 |
521 | R>L | No |
ClinGen Ensembl |
|
CA72721735 rs899577497 |
524 | V>A | No |
ClinGen TOPMed |
|
CA352027257 rs1431125084 |
530 | R>W | No |
ClinGen gnomAD |
|
rs746871079 CA2302608 |
531 | E>K | No |
ClinGen ExAC gnomAD |
|
CA352027235 rs1419554254 |
532 | A>T | No |
ClinGen gnomAD |
|
CA352027181 rs1369924707 |
534 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
COSM5069051 CA352027184 rs1404612941 |
534 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
CA352027053 rs1173607941 |
539 | D>E | No |
ClinGen gnomAD |
|
rs779165122 CA2302607 |
540 | T>A | No |
ClinGen ExAC gnomAD |
|
rs779165122 CA352027048 |
540 | T>P | No |
ClinGen ExAC gnomAD |
|
rs749533648 CA2302605 |
544 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs749533648 CA352026991 |
544 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302604 rs778128977 |
544 | R>H | No |
ClinGen ExAC gnomAD |
|
CA2302602 rs753074704 |
545 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352026951 rs1460799052 |
547 | Q>H | No |
ClinGen gnomAD |
|
rs1454257914 CA352026946 |
548 | P>H | No |
ClinGen TOPMed |
|
CA352026939 rs1210625315 |
549 | L>F | No |
ClinGen gnomAD |
|
CA2302600 rs755535036 |
549 | L>H | No |
ClinGen ExAC gnomAD |
|
CA352026928 rs530462971 |
550 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA72721713 rs530462971 |
550 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
CA352026036 rs1170328627 |
550 | A>V | No |
ClinGen gnomAD |
|
CA2302580 rs780531961 |
553 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1421275106 CA352026000 |
553 | H>Y | No |
ClinGen TOPMed |
|
rs757941650 CA2302579 |
554 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA2302578 rs749908038 |
556 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352025912 rs1222047263 |
557 | S>* | No |
ClinGen gnomAD |
|
CA352025916 rs1247463802 |
557 | S>P | No |
ClinGen gnomAD |
|
CA352025901 rs1277192034 |
558 | T>I | No |
ClinGen gnomAD |
|
CA2302577 rs764598812 |
560 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756965077 CA2302575 |
561 | L>F | No |
ClinGen ExAC gnomAD |
|
CA352025814 rs558277186 |
562 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2302573 rs763963352 |
562 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs775636718 CA2302571 |
563 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767531678 CA2302570 |
564 | P>L | No |
ClinGen ExAC gnomAD |
|
rs767531678 CA72719693 |
564 | P>R | No |
ClinGen ExAC gnomAD |
|
CA2302568 rs773366139 |
565 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352025750 rs769725395 |
566 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769725395 CA2302567 |
566 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302565 rs776663409 |
567 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA2302549 rs761789213 |
572 | P>R | No |
ClinGen ExAC gnomAD |
|
CA2302547 rs768840323 |
575 | G>E | No |
ClinGen ExAC gnomAD |
|
rs992834931 CA72719376 |
576 | I>M | No |
ClinGen Ensembl |
|
rs917342028 CA72719382 |
576 | I>T | No |
ClinGen Ensembl |
|
rs1436126681 CA352025262 |
578 | Q>R | No |
ClinGen gnomAD |
|
CA2302545 rs775860244 |
579 | S>P | No |
ClinGen ExAC |
|
rs772354706 CA352025202 |
581 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772354706 CA2302544 |
581 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746397949 CA2302543 |
582 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770540550 CA2302541 |
583 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352025093 rs1336038451 |
588 | A>T | No |
ClinGen gnomAD |
|
rs781141777 CA2302535 |
590 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373710625 CA72719290 |
594 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
rs1362320183 CA352025023 |
595 | G>V | No |
ClinGen gnomAD |
|
rs1445640111 CA352025013 |
597 | D>G | No |
ClinGen gnomAD |
|
CA2302533 rs751576709 |
597 | D>H | No |
ClinGen ExAC gnomAD |
|
rs1243026672 CA352025008 |
598 | V>M | No |
ClinGen gnomAD |
|
rs1459542277 CA352024984 |
601 | A>V | No |
ClinGen gnomAD |
|
CA72719277 rs75005449 |
603 | A>G | No |
ClinGen Ensembl |
|
rs761998947 CA2302531 |
603 | A>T | No |
ClinGen ExAC gnomAD |
|
rs753881504 CA352024967 |
604 | D>G | No |
ClinGen ExAC gnomAD |
|
CA2302530 rs753881504 |
604 | D>V | No |
ClinGen ExAC gnomAD |
|
CA352024964 rs1281211293 |
605 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs755187415 CA2302488 |
609 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA352024627 rs1322924892 |
611 | R>G | No |
ClinGen gnomAD |
|
CA2302487 rs760251835 |
611 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs556081832 CA2302485 |
614 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA352024592 rs1479861584 |
614 | Y>H | No |
ClinGen TOPMed |
|
rs762357764 CA2302482 |
617 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1337994914 CA352024524 |
619 | M>L | No |
ClinGen gnomAD |
|
rs1452642721 CA352024521 |
619 | M>R | No |
ClinGen gnomAD |
|
rs776307662 CA352024495 |
620 | H>L | No |
ClinGen ExAC gnomAD |
|
rs1173411820 CA352024493 |
620 | H>Q | No |
ClinGen gnomAD |
|
rs776307662 CA2302481 |
620 | H>R | No |
ClinGen ExAC gnomAD |
|
CA2302479 rs746652162 |
625 | A>T | No |
ClinGen ExAC gnomAD |
|
CA2302478 rs775193571 |
629 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1576615755 CA352024320 |
633 | C>Y | No |
ClinGen Ensembl |
|
rs1460863047 CA352024293 |
636 | R>C | No |
ClinGen gnomAD |
|
CA2302476 rs184615866 |
636 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2302475 rs778871201 |
637 | S>T | No |
ClinGen ExAC gnomAD |
|
CA2302474 rs757208245 |
637 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs938089501 CA72717869 |
638 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs749185193 CA2302473 |
641 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1362042788 CA352024251 |
641 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA352024248 rs1316274783 |
642 | N>H | No |
ClinGen gnomAD |
|
COSM3592538 COSM3592539 COSM3592540 CA2302471 rs755029277 |
649 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1432340688 CA352024148 |
650 | R>T | No |
ClinGen gnomAD |
|
rs1307113994 CA352024140 |
651 | Q>E | No |
ClinGen TOPMed |
|
rs751789762 CA2302470 |
652 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352024050 rs1386850200 |
659 | L>F | No |
ClinGen gnomAD |
|
CA352024040 rs1443899300 |
660 | N>D | No |
ClinGen gnomAD |
|
rs982286211 CA72717848 |
660 | N>S | No |
ClinGen Ensembl |
|
rs998187639 CA72717836 |
661 | R>K | No |
ClinGen TOPMed |
|
rs1215309981 CA352024016 |
661 | R>S | No |
ClinGen TOPMed |
|
CA2302466 rs765653655 |
663 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1486252830 CA352023987 |
664 | S>C | No |
ClinGen gnomAD |
|
CA352023982 rs1560097535 |
664 | S>T | No |
ClinGen Ensembl |
|
rs762410958 CA2302465 |
666 | N>S | No |
ClinGen ExAC gnomAD |
|
rs763568275 CA2302463 |
668 | S>A | No |
ClinGen ExAC gnomAD |
|
rs760226798 CA2302462 |
675 | L>V | No |
ClinGen ExAC gnomAD |
|
CA2302461 rs775043156 |
680 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352023689 rs1269998869 |
682 | K>R | No |
ClinGen TOPMed |
|
CA2302460 rs771732253 |
684 | Q>* | No |
ClinGen ExAC |
|
CA352023636 rs368363195 |
684 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA352023630 rs1362065184 |
685 | R>K | No |
ClinGen gnomAD |
|
rs1431723388 CA352022907 |
690 | V>A | No |
ClinGen gnomAD |
|
CA352022898 rs1295126239 |
691 | E>* | No |
ClinGen TOPMed |
|
CA352022900 rs1295126239 |
691 | E>Q | No |
ClinGen TOPMed |
|
CA72716539 rs75825648 |
693 | K>* | No |
ClinGen Ensembl |
|
rs1038012014 CA72716515 |
694 | R>K | No |
ClinGen Ensembl |
|
rs1232692530 CA352022793 |
694 | R>S | No |
ClinGen TOPMed |
|
CA72716508 rs867184637 |
702 | M>V | No |
ClinGen Ensembl |
|
rs774761519 CA2302411 CA2302410 |
714 | M>L | No |
ClinGen ExAC gnomAD |
|
CA72711260 rs915933392 |
714 | M>T | No |
ClinGen Ensembl |
|
CA2302408 rs749430986 |
717 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1464677548 CA352020737 |
718 | T>S | No |
ClinGen gnomAD |
|
CA352020667 rs1439469049 |
723 | I>M | No |
ClinGen gnomAD |
|
CA2302404 rs781663448 |
723 | I>V | No |
ClinGen ExAC gnomAD |
|
CA2302403 rs754525665 |
724 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs528292583 CA2302402 |
724 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs758104918 CA2302400 |
725 | V>I | No |
ClinGen ExAC gnomAD |
|
CA72711235 rs948461159 |
726 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA2302397 rs761505252 |
728 | D>G | No |
ClinGen ExAC gnomAD |
|
CA2302399 rs144079580 |
728 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2302398 rs144079580 |
728 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1487260841 CA352020604 |
729 | D>Y | No |
ClinGen TOPMed |
|
rs764098967 CA2302395 |
734 | L>V | No |
ClinGen ExAC gnomAD |
|
CA352020447 rs1338213373 |
738 | L>Q | No |
ClinGen gnomAD |
|
rs77805662 CA72711180 |
744 | K>N | No |
ClinGen Ensembl |
|
CA72711160 rs77213021 |
745 | M>I | No |
ClinGen gnomAD |
|
CA72711172 rs76701586 |
745 | M>K | No |
ClinGen ESP TOPMed gnomAD |
|
CA72711164 rs76701586 |
745 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
rs373215296 CA2302392 COSM5006144 COSM5006146 COSM5006145 |
747 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA gnomAD |
CA2302391 rs770848847 |
751 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302389 rs773294266 |
753 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1456431952 CA352020034 |
760 | A>G | No |
ClinGen gnomAD |
|
rs938773650 CA72711143 |
763 | V>I | No |
ClinGen Ensembl |
|
CA72710359 rs898026717 |
766 | E>V | No |
ClinGen TOPMed |
|
CA352019881 rs1334855480 |
767 | S>Y | No |
ClinGen TOPMed |
|
rs375735857 CA2302370 |
769 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs780398129 CA2302366 |
775 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1055374428 CA72710344 |
776 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA2302365 rs771682974 |
779 | R>T | No |
ClinGen ExAC gnomAD |
|
CA352019638 rs1404752760 |
781 | T>A | No |
ClinGen gnomAD |
|
rs778430865 CA2302363 |
786 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA2302362 rs756866089 |
789 | S>N | No |
ClinGen ExAC gnomAD |
|
rs753502235 CA2302361 |
790 | L>S | No |
ClinGen ExAC gnomAD |
|
rs765250670 CA2302336 |
795 | A>V | No |
ClinGen ExAC gnomAD |
|
CA352017735 rs1443466410 |
796 | I>V | No |
ClinGen TOPMed |
|
rs544056188 CA72705624 |
800 | I>M | No |
ClinGen Ensembl |
|
rs374578698 CA72705626 |
800 | I>T | No |
ClinGen ESP TOPMed |
|
rs368913164 CA2302335 |
800 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA352017652 rs1158044444 |
808 | D>N | No |
ClinGen TOPMed |
|
CA72705618 rs1010617258 |
811 | D>G | No |
ClinGen TOPMed |
|
CA352017591 rs1403101210 |
815 | S>A | No |
ClinGen gnomAD |
|
rs1302501097 CA352017574 |
816 | S>R | No |
ClinGen gnomAD |
|
rs764290497 CA2302333 |
819 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA72705609 rs935002973 |
819 | R>H | No |
ClinGen TOPMed |
|
CA72705602 rs935002973 |
819 | R>L | No |
ClinGen TOPMed |
|
rs1576316570 CA352017521 |
821 | A>V | No |
ClinGen Ensembl |
|
rs1008099635 CA72705564 |
824 | R>Q | No |
ClinGen TOPMed |
|
rs889596999 CA72705562 |
829 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs1279696199 CA352017399 |
831 | E>K | No |
ClinGen TOPMed |
|
rs775724211 CA2302331 |
838 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs759914127 CA2302310 |
842 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA2302309 rs774785600 |
843 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770355634 CA72702248 |
845 | L>Q | No |
ClinGen gnomAD |
|
rs769385672 CA2302305 |
847 | S>* | No |
ClinGen ExAC gnomAD |
|
rs769385672 CA2302306 |
847 | S>L | No |
ClinGen ExAC gnomAD |
|
rs763493957 CA2302307 |
847 | S>T | No |
ClinGen ExAC gnomAD |
|
CA2302302 rs200353593 |
850 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA352015759 rs1576217378 |
851 | L>H | No |
ClinGen Ensembl |
|
rs1412577805 CA352015749 |
852 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA72702221 rs370718492 |
856 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA352015699 rs1424610640 |
856 | F>L | No |
ClinGen TOPMed |
|
rs779769335 CA2302300 |
858 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1387826003 CA352015631 |
861 | G>E | No |
ClinGen gnomAD |
|
CA2302298 rs745767300 |
869 | D>N | No |
ClinGen ExAC gnomAD |
|
rs776709778 CA72702159 |
870 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs776709778 CA352015519 |
870 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA352015514 rs1455960117 |
871 | A>T | No |
ClinGen gnomAD |
|
CA352015483 rs1425258753 |
873 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA352015486 rs1286605175 |
873 | K>R | No |
ClinGen TOPMed |
|
CA2302297 rs777854408 |
874 | L>R | No |
ClinGen ExAC gnomAD |
|
CA352015455 rs1477330434 |
875 | L>I | No |
ClinGen gnomAD |
|
CA2302296 rs756197761 |
876 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1396226812 CA352015391 |
878 | H>Y | No |
ClinGen TOPMed |
|
CA352015353 rs1338439175 |
880 | R>* | No |
ClinGen TOPMed |
|
CA2302295 rs550618048 |
880 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2302294 rs781471511 |
882 | T>A | No |
ClinGen ExAC gnomAD |
|
CA352015317 rs755355195 |
882 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755355195 CA2302293 |
882 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302292 rs751984268 |
883 | G>S | No |
ClinGen ExAC gnomAD |
|
rs949057256 CA72702134 |
884 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA2302291 rs539122583 |
884 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1273512073 CA352015108 |
890 | M>L | No |
ClinGen TOPMed gnomAD |
|
CA352015104 rs1453184299 |
890 | M>T | No |
ClinGen TOPMed |
|
rs1242912252 CA352015055 |
892 | S>T | No |
ClinGen gnomAD |
|
rs1309299486 CA352015036 |
893 | P>L | No |
ClinGen gnomAD |
|
CA2302277 rs748245697 |
893 | P>S | No |
ClinGen ExAC gnomAD |
|
CA2302276 rs781072953 |
894 | L>F | No |
ClinGen ExAC gnomAD |
|
CA2302275 rs187113660 |
895 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1576197224 CA352015004 |
896 | R>S | No |
ClinGen Ensembl |
|
rs1245092464 CA352014971 |
898 | T>I | No |
ClinGen TOPMed |
|
CA352014977 rs1335798047 |
898 | T>S | No |
ClinGen gnomAD |
|
rs1414736606 CA352014964 |
899 | P>R | No |
ClinGen gnomAD |
|
CA72701641 rs940696009 |
899 | P>S | No |
ClinGen Ensembl |
|
COSM3408607 CA352014955 COSM3408608 COSM3408606 rs1350668772 |
900 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
CA2302274 rs777152959 |
900 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777152959 CA2302273 |
900 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777152959 CA72701638 |
900 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1284463344 CA352014951 |
901 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA352014952 rs1284463344 |
901 | S>T | No |
ClinGen TOPMed gnomAD |
|
rs1483699101 CA352014912 |
902 | P>Q | No |
ClinGen TOPMed |
|
CA352014935 rs1260424501 |
902 | P>S | No |
ClinGen TOPMed |
|
rs758808715 CA2302272 |
906 | S>P | No |
ClinGen ExAC gnomAD |
|
CA2302271 rs751003564 |
907 | S>G | No |
ClinGen ExAC gnomAD |
|
rs765764765 CA2302270 |
907 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1206015278 CA352014799 |
908 | P>L | No |
ClinGen TOPMed |
|
rs753395553 CA2302268 |
910 | T>S | No |
ClinGen ExAC gnomAD |
|
CA352014657 rs1248291582 |
914 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs771894699 CA2302264 |
917 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs759323024 CA2302263 |
921 | S>P | No |
ClinGen ExAC gnomAD |
|
CA2302241 rs768196398 |
924 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352013743 rs768196398 |
924 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1268746231 CA352013673 |
928 | D>N | No |
ClinGen TOPMed |
|
rs1340880942 CA352013648 |
929 | T>I | No |
ClinGen gnomAD |
|
rs369566274 CA2302240 |
932 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1340472046 CA352013616 |
932 | M>V | No |
ClinGen TOPMed |
|
CA72699246 rs868261938 |
933 | N>S | No |
ClinGen Ensembl |
|
CA2302239 rs775657093 |
934 | S>T | No |
ClinGen ExAC gnomAD |
|
CA2302237 rs746050621 |
938 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1242332188 CA352013366 |
945 | T>A | No |
ClinGen gnomAD |
|
CA352013250 rs1336387642 |
953 | F>L | No |
ClinGen TOPMed |
|
COSM5934724 rs1017768054 COSM5934725 COSM5934723 CA72699225 |
954 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
CA2302234 rs376323807 |
954 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs778138302 CA2302233 |
956 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1260827989 CA352013199 |
957 | E>G | No |
ClinGen TOPMed |
|
CA2302232 rs755679336 |
957 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1221576500 CA352013175 |
959 | M>V | No |
ClinGen gnomAD |
|
CA352013134 rs1450551177 |
960 | N>S | No |
ClinGen gnomAD |
|
rs752216479 CA2302231 |
965 | R>G | No |
ClinGen ExAC gnomAD |
|
CA352013042 rs1318217362 |
966 | D>N | No |
ClinGen gnomAD |
|
rs766946802 CA2302230 |
968 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1037357574 CA72699214 |
969 | K>T | No |
ClinGen Ensembl |
|
CA352012947 rs1185608512 |
970 | D>Y | No |
ClinGen Ensembl |
|
rs751122925 CA2302228 |
971 | D>N | No |
ClinGen ExAC gnomAD |
|
rs773262799 CA2302225 |
972 | G>D | No |
ClinGen ExAC gnomAD |
|
rs762622458 CA2302226 |
972 | G>S | No |
ClinGen ExAC gnomAD |
|
rs201682138 CA2302223 |
973 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2302209 rs371559460 |
977 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
rs1364872511 CA352012230 |
979 | P>L | No |
ClinGen gnomAD |
|
CA72697181 rs931145377 |
979 | P>S | No |
ClinGen Ensembl |
|
rs1576047396 CA916866828 |
980 | G>E | No |
ClinGen Ensembl |
|
rs894342619 CA72697179 |
981 | M>I | No |
ClinGen Ensembl |
|
CA352012198 rs1467825911 |
982 | S>T | No |
ClinGen gnomAD |
|
rs758268206 CA2302208 |
983 | D>H | No |
ClinGen ExAC gnomAD |
|
rs1165991085 CA352012163 |
985 | R>G | No |
ClinGen TOPMed |
|
rs1576047054 CA352012161 |
985 | R>K | No |
ClinGen Ensembl |
|
rs765088254 CA2302206 |
986 | A>G | No |
ClinGen ExAC gnomAD |
|
rs750193897 CA2302207 |
986 | A>T | No |
ClinGen ExAC gnomAD |
|
rs753808173 CA2302204 |
987 | G>R | No |
ClinGen ExAC gnomAD |
|
rs990493314 CA72697133 |
989 | D>N | No |
ClinGen TOPMed |
|
CA72697126 rs938636647 |
991 | T>N | No |
ClinGen Ensembl |
|
rs200647324 CA72697119 |
993 | S>P | No |
ClinGen Ensembl |
|
CA352012089 rs1425300548 |
996 | T>I | No |
ClinGen TOPMed |
|
rs1249278679 CA352012084 |
997 | A>G | No |
ClinGen gnomAD |
|
rs1439791528 CA352012088 |
997 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs767746519 CA2302203 |
998 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA72697114 rs376656899 |
999 | D>Y | No |
ClinGen Ensembl |
|
rs1256342894 CA352012049 |
1002 | A>V | No |
ClinGen gnomAD |
|
rs1386219298 CA352012047 |
1003 | S>P | No |
ClinGen TOPMed |
|
CA2302201 rs774692902 |
1005 | L>P | No |
ClinGen ExAC gnomAD |
|
CA2302200 rs771073324 |
1006 | H>R | No |
ClinGen ExAC gnomAD |
|
CA72697104 rs928560904 |
1006 | H>Y | No |
ClinGen Ensembl |
|
rs200273295 CA2302199 |
1008 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA352012006 rs1328469760 |
1009 | P>H | No |
ClinGen TOPMed |
|
CA2302198 rs773597901 |
1009 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1419848041 CA352011997 |
1011 | H>Y | No |
ClinGen gnomAD |
|
CA2302197 rs537339494 |
1012 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA352011981 rs1397974088 |
1013 | S>F | No |
ClinGen gnomAD |
|
rs370607793 CA2302195 |
1014 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1413328554 CA352011973 |
1015 | R>C | No |
ClinGen gnomAD |
|
rs746484508 CA2302193 |
1015 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs750046209 CA2302190 |
1016 | S>F | No |
ClinGen ExAC gnomAD |
|
rs201766506 CA2302191 |
1016 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs778905362 CA2302189 |
1017 | R>Q | No |
ClinGen ExAC |
|
rs570365071 CA2302188 |
1019 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA352011935 rs1576045224 |
1021 | P>L | No |
ClinGen Ensembl |
|
rs375078809 CA2302187 |
1022 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1256456184 CA352011910 |
1023 | N>T | No |
ClinGen gnomAD |
|
CA352011894 COSM1645861 rs1576045087 COSM1137016 |
1024 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl |
rs1190074905 CA352011885 |
1025 | S>T | No |
ClinGen TOPMed |
|
rs764115456 CA2302186 |
1026 | D>G | No |
ClinGen ExAC gnomAD |
|
rs748204669 CA352011854 |
1027 | S>G | No |
ClinGen gnomAD |
|
rs760605050 CA2302185 |
1027 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748204669 CA72696976 |
1027 | S>R | No |
ClinGen gnomAD |
|
CA72696922 rs751593894 |
1028 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352011827 rs1444956816 |
1029 | S>R | No |
ClinGen TOPMed |
|
CA72696894 rs998347063 |
1032 | N>H | No |
ClinGen TOPMed |
|
rs778888055 CA72696890 |
1033 | K>R | No |
ClinGen gnomAD |
|
CA352011726 rs1312298151 |
1036 | L>F | No |
ClinGen gnomAD |
|
rs1363598492 CA352011679 |
1039 | A>V | No |
ClinGen TOPMed |
|
CA2302178 rs777178306 |
1045 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352011537 rs1202025769 |
1047 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA2302177 rs769053975 |
1049 | P>S | No |
ClinGen ExAC gnomAD |
|
rs908164925 CA72711435 |
1054 | L>P | No |
ClinGen Ensembl |
|
CA72711428 rs930768824 |
1056 | H>R | No |
ClinGen TOPMed |
|
rs1233635039 CA352029066 |
1070 | H>Y | No |
ClinGen TOPMed |
|
rs1575743793 CA352029030 |
1072 | E>Q | No |
ClinGen Ensembl |
|
CA352029023 rs1274983986 |
1072 | E>V | No |
ClinGen TOPMed |
|
rs1559820490 CA352029013 |
1073 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA2302158 rs560504448 |
1073 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2302155 rs771551971 |
1076 | E>G | No |
ClinGen ExAC gnomAD |
|
rs745358591 CA2302154 |
1078 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302153 rs548789620 |
1080 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2302152 rs183373873 |
1082 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2302151 rs748907521 |
1084 | L>F | No |
ClinGen ExAC gnomAD |
|
CA72711334 rs966520046 |
1085 | M>I | No |
ClinGen Ensembl |
|
rs777450082 CA2302150 |
1085 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1370971265 CA352028787 |
1089 | Q>R | No |
ClinGen gnomAD |
|
rs748075075 CA2302148 |
1093 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748075075 CA352028750 |
1093 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1461362862 CA352028721 |
1097 | D>A | No |
ClinGen TOPMed |
|
rs1010819205 CA72711318 |
1097 | D>N | No |
ClinGen TOPMed |
|
rs758462310 CA2302146 |
1100 | F>L | No |
ClinGen ExAC gnomAD |
|
CA2302145 rs750512970 |
1103 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352028664 rs1383368994 |
1105 | L>F | No |
ClinGen TOPMed |
|
rs200758119 CA2302143 |
1110 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352028572 rs1239462320 |
1117 | T>A | No |
ClinGen gnomAD |
|
rs769544334 CA2302130 |
1118 | I>V | No |
ClinGen ExAC gnomAD |
|
CA352028553 rs1485542441 |
1120 | A>T | No |
ClinGen gnomAD |
|
CA352028541 rs1219396742 |
1122 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA352028520 rs1274073871 |
1125 | V>L | No |
ClinGen TOPMed |
|
CA352028511 rs1354550338 |
1126 | L>S | No |
ClinGen TOPMed gnomAD |
|
rs746905410 CA2302126 |
1132 | H>R | No |
ClinGen ExAC gnomAD |
|
CA352028457 rs1463788477 |
1134 | P>S | No |
ClinGen gnomAD |
|
CA352028428 rs1233582638 |
1138 | K>R | No |
ClinGen gnomAD |
|
rs1026798841 CA72710901 |
1139 | N>S | No |
ClinGen gnomAD |
|
rs561251841 CA2302124 |
1140 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA72710900 rs995043967 |
1140 | Y>N | No |
ClinGen Ensembl |
|
CA352028410 rs1401742026 |
1141 | A>T | No |
ClinGen gnomAD |
|
rs1345737125 CA352028405 |
1141 | A>V | No |
ClinGen gnomAD |
|
CA2302121 rs756233257 |
1153 | K>E | No |
ClinGen ExAC gnomAD |
|
CA352028283 rs1575730994 |
1155 | P>S | No |
ClinGen Ensembl |
|
rs1006079166 CA72708313 |
1164 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA352026540 rs1443901787 |
1166 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1193639018 CA352026530 |
1166 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs781723103 CA2302100 |
1167 | A>T | No |
ClinGen ExAC gnomAD |
|
CA72708296 rs531815234 |
1167 | A>V | No |
ClinGen 1000Genomes |
|
CA352026473 rs1480783733 |
1169 | V>A | No |
ClinGen gnomAD |
|
rs766979627 CA2302097 |
1170 | L>W | No |
ClinGen ExAC gnomAD |
|
CA352026449 rs1313819585 |
1171 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA352026430 rs1575662982 |
1172 | T>I | No |
ClinGen Ensembl |
|
CA352026425 rs1280977436 |
1173 | S>P | No |
ClinGen gnomAD |
|
CA352026410 rs377235240 |
1174 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs749950134 CA2302095 |
1174 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302096 rs377235240 |
1174 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs906936375 CA72708267 |
1176 | P>S | No |
ClinGen TOPMed |
|
CA352026393 rs906936375 |
1176 | P>T | No |
ClinGen TOPMed |
|
rs1392160914 CA352026359 |
1180 | I>M | No |
ClinGen gnomAD |
|
CA352026355 rs1372903789 |
1181 | K>T | No |
ClinGen gnomAD |
|
rs1296773047 CA352026343 |
1182 | V>L | No |
ClinGen gnomAD |
|
rs1450641539 CA352026290 |
1184 | C>S | No |
ClinGen TOPMed gnomAD |
|
rs564748894 CA2302094 |
1186 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2302092 rs776118648 |
1189 | T>S | No |
ClinGen ExAC gnomAD |
|
CA352026155 rs1392697482 |
1190 | A>T | No |
ClinGen gnomAD |
|
rs953040113 COSM4931304 COSM4931303 CA72708210 |
1191 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs572141479 CA2302090 |
1194 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA352026010 rs1406793687 |
1195 | N>I | No |
ClinGen gnomAD |
|
CA2302089 rs775211679 |
1195 | N>K | No |
ClinGen ExAC gnomAD |
|
CA352025792 rs1258051710 |
1201 | M>I | No |
ClinGen gnomAD |
|
CA352025729 rs1409347463 |
1204 | K>E | No |
ClinGen gnomAD |
|
rs560162561 CA2302087 |
1204 | K>I | No |
ClinGen 1000Genomes ExAC |
|
rs773366100 CA2302086 |
1206 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2302084 rs748441736 |
1208 | R>S | No |
ClinGen ExAC gnomAD |
|
rs374687770 CA2302083 |
1211 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2302082 rs755451718 |
1213 | T>I | No |
ClinGen ExAC gnomAD |
|
CA352025297 rs1289975062 |
1220 | E>G | No |
ClinGen TOPMed |
|
rs1413421350 CA352025141 |
1224 | G>D | No |
ClinGen gnomAD |
|
CA72703320 rs960256852 |
1230 | D>V | No |
ClinGen TOPMed |
|
rs777225350 CA2302055 |
1235 | S>G | No |
ClinGen ExAC gnomAD |
|
CA2302054 rs755787230 |
1236 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1376498494 CA352022823 |
1239 | A>T | No |
ClinGen gnomAD |
|
CA352022806 rs1179018551 |
1240 | C>S | No |
ClinGen TOPMed |
|
rs1478148861 CA352022589 |
1246 | A>T | No |
ClinGen TOPMed |
|
CA352022546 rs1371204354 |
1247 | V>F | No |
ClinGen gnomAD |
|
CA2302051 rs759245006 |
1248 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA2302050 rs200365117 |
1249 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA352022499 rs200365117 |
1249 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2302047 rs369552604 |
1250 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
rs1168304019 CA352022489 |
1250 | V>I | No |
ClinGen gnomAD |
|
rs1371269369 CA352022460 |
1251 | I>V | No |
ClinGen gnomAD |
|
rs1308592631 CA352022421 |
1252 | G>R | No |
ClinGen TOPMed |
|
CA2302046 rs768804970 |
1253 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1454751305 CA352022355 |
1254 | E>K | No |
ClinGen gnomAD |
|
CA2302044 rs775853317 |
1257 | P>Q | No |
ClinGen ExAC gnomAD |
|
rs772549060 CA2302043 |
1258 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1389801514 CA352022284 |
1259 | L>I | No |
ClinGen TOPMed |
|
CA352022275 rs1306348881 |
1260 | S>G | No |
ClinGen TOPMed |
|
CA2302018 rs780686778 |
1267 | M>I | No |
ClinGen ExAC gnomAD |
|
CA352021059 rs1415275245 |
1267 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs754614136 CA2302017 |
1275 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1385836021 CA352020795 |
1277 | A>S | No |
ClinGen gnomAD |
|
rs746620473 CA2302016 |
1281 | S>P | No |
ClinGen ExAC gnomAD |
|
rs758234415 CA352020720 |
1282 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758234415 CA2302014 |
1282 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779760245 CA2302015 |
1282 | G>R | No |
ClinGen ExAC gnomAD |
|
CA72701636 rs902138980 |
1283 | G>E | No |
ClinGen TOPMed |
|
rs765282276 CA2302012 |
1284 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs372110144 CA72701631 |
1286 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
rs1380611073 CA352020655 |
1288 | T>A | No |
ClinGen TOPMed |
|
CA352020536 rs1421459814 |
1295 | S>L | No |
ClinGen TOPMed |
No associated diseases with O75122
No regional properties for O75122
Type | Name | Position | InterPro Accession |
---|---|---|---|
No domain, repeats, and functional sites for O75122 |
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR21567 | CLASP |
PANTHER Subfamily | PTHR21567:SF30 | CLIP-ASSOCIATING PROTEIN 2 |
PANTHER Protein Class | non-motor microtubule binding protein | |
PANTHER Pathway Category | No pathway information available |
18 GO annotations of cellular component
Name | Definition |
---|---|
axonal growth cone | The migrating motile tip of a growing nerve cell axon. |
basal cortex | The region that lies just beneath the plasma membrane on the basal edge of a cell. |
cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
cell leading edge | The area of a motile cell closest to the direction of movement. |
cortical microtubule plus-end | The plus-end of a cortical microtubule. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytoplasmic microtubule | Any microtubule in the cytoplasm of a cell. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
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. |
kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
kinetochore microtubule | Any of the spindle microtubules that attach to the kinetochores of chromosomes by their plus ends, and maneuver the chromosomes during mitotic or meiotic chromosome segregation. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
spindle microtubule | Any microtubule that is part of a mitotic or meiotic spindle; anchored at one spindle pole. |
trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
5 GO annotations of molecular function
Name | Definition |
---|---|
actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
dystroglycan binding | Binding to dystroglycan, a glycoprotein found in non-muscle tissues as well as in muscle tissues, often in association with dystrophin. The native dystroglycan cleaved into two non-covalently associated subunits, alpha (N-terminal) and beta (C-terminal). |
microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
microtubule plus-end binding | Binding to the plus end of a microtubule. |
protein tyrosine kinase binding | Binding to protein tyrosine kinase. |
29 GO annotations of biological process
Name | Definition |
---|---|
cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
establishment of mitotic spindle localization | The cell cycle process in which the directed movement of the mitotic spindle to a specific location in the cell occurs. |
establishment or maintenance of cell polarity | Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. |
exit from mitosis | The cell cycle transition where a cell leaves M phase and enters a new G1 phase. M phase is the part of the mitotic cell cycle during which mitosis and cytokinesis take place. |
Golgi organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus. |
microtubule anchoring | Any process in which a microtubule is maintained in a specific location in a cell. |
microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
microtubule nucleation | The process in which tubulin alpha-beta heterodimers begin aggregation to form an oligomeric tubulin structure (a microtubule seed). Microtubule nucleation is the initiating step in the formation of a microtubule in the absence of any existing microtubules ('de novo' microtubule formation). |
microtubule organizing center organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a microtubule organizing center, a structure from which microtubules grow. |
mitotic spindle assembly | Mitotic bipolar spindle assembly begins with spindle microtubule nucleation from the separated spindle pole body, includes spindle elongation during prometaphase, and is complete when all kinetochores are stably attached the spindle, and the spindle assembly checkpoint is satisfied. |
mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
negative regulation of focal adhesion assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions. |
negative regulation of microtubule depolymerization | Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol. |
negative regulation of stress fiber assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
negative regulation of wound healing, spreading of epidermal cells | Any process that stops, prevents or reduces the frequency, rate or extent of wound healing, spreading of epidermal cells. |
platelet-derived growth factor receptor-beta signaling pathway | The series of molecular signals initiated by the binding of a ligand to a beta-type platelet-derived growth factor receptor (PDGFbeta) on the surface of a signal-receiving cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
positive regulation of basement membrane assembly involved in embryonic body morphogenesis | Any process that activates or increases the frequency, rate or extent of basement membrane assembly involved in embryonic body morphogenesis. |
positive regulation of epithelial cell migration | Any process that activates or increases the frequency, rate or extent of epithelial cell migration. |
positive regulation of exocytosis | Any process that activates or increases the frequency, rate or extent of exocytosis. |
positive regulation of extracellular matrix disassembly | Any process that increases the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix. |
protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
regulation of actin cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
regulation of axon extension | Any process that modulates the rate, direction or extent of axon extension. |
regulation of epithelial to mesenchymal transition | Any process that modulates the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
regulation of gastrulation | Any process that modulates the rate or extent of gastrulation. Gastrulation is the complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. |
regulation of microtubule polymerization | Any process that modulates the frequency, rate or extent of microtubule polymerization. |
regulation of microtubule polymerization or depolymerization | Any process that modulates the frequency, rate or extent of microtubule polymerization or depolymerization by the addition or removal of tubulin heterodimers from a microtubule. |
regulation of microtubule-based process | Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton. |
vesicle targeting | The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. |
7 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P38198 | STU1 | Protein STU1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
Q9NBD7 | chb | CLIP-associating protein | Drosophila melanogaster (Fruit fly) | SS |
Q7Z460 | CLASP1 | CLIP-associating protein 1 | Homo sapiens (Human) | SS |
Q80TV8 | Clasp1 | CLIP-associating protein 1 | Mus musculus (Mouse) | SS |
Q8BRT1 | Clasp2 | CLIP-associating protein 2 | Mus musculus (Mouse) | SS |
Q99JD4 | Clasp2 | CLIP-associating protein 2 | Rattus norvegicus (Rat) | SS |
Q6NYW6 | clasp2 | CLIP-associating protein 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MAMGDDKSFD | DEESVDGNRP | SSAASAFKVP | APKTSGNPAN | SARKPGSAGG | PKVGGASKEG |
70 | 80 | 90 | 100 | 110 | 120 |
GAGAVDEDDF | IKAFTDVPSI | QIYSSRELEE | TLNKIREILS | DDKHDWDQRA | NALKKIRSLL |
130 | 140 | 150 | 160 | 170 | 180 |
VAGAAQYDCF | FQHLRLLDGA | LKLSAKDLRS | QVVREACITV | AHLSTVLGNK | FDHGAEAIVP |
190 | 200 | 210 | 220 | 230 | 240 |
TLFNLVPNSA | KVMATSGCAA | IRFIIRHTHV | PRLIPLITSN | CTSKSVPVRR | RSFEFLDLLL |
250 | 260 | 270 | 280 | 290 | 300 |
QEWQTHSLER | HAAVLVETIK | KGIHDADAEA | RVEARKTYMG | LRNHFPGEAE | TLYNSLEPSY |
310 | 320 | 330 | 340 | 350 | 360 |
QKSLQTYLKS | SGSVASLPQS | DRSSSSSQES | LNRPFSSKWS | TANPSTVAGR | VSAGSSKASS |
370 | 380 | 390 | 400 | 410 | 420 |
LPGSLQRSRS | DIDVNAAAGA | KAHHAAGQSV | RSGRLGAGAL | NAGSYASLED | TSDKLDGTAS |
430 | 440 | 450 | 460 | 470 | 480 |
EDGRVRAKLS | APLAGMGNAK | ADSRGRSRTK | MVSQSQPGSR | SGSPGRVLTT | TALSTVSSGV |
490 | 500 | 510 | 520 | 530 | 540 |
QRVLVNSASA | QKRSKIPRSQ | GCSREASPSR | LSVARSSRIP | RPSVSQGCSR | EASRESSRDT |
550 | 560 | 570 | 580 | 590 | 600 |
SPVRSFQPLA | SRHHSRSTGA | LYAPEVYGAS | GPGYGISQSS | RLSSSVSAMR | VLNTGSDVEE |
610 | 620 | 630 | 640 | 650 | 660 |
AVADALKKPA | RRRYESYGMH | SDDDANSDAS | SACSERSYSS | RNGSIPTYMR | QTEDVAEVLN |
670 | 680 | 690 | 700 | 710 | 720 |
RCASSNWSER | KEGLLGLQNL | LKNQRTLSRV | ELKRLCEIFT | RMFADPHGKR | VFSMFLETLV |
730 | 740 | 750 | 760 | 770 | 780 |
DFIQVHKDDL | QDWLFVLLTQ | LLKKMGADLL | GSVQAKVQKA | LDVTRESFPN | DLQFNILMRF |
790 | 800 | 810 | 820 | 830 | 840 |
TVDQTQTPSL | KVKVAILKYI | ETLAKQMDPG | DFINSSETRL | AVSRVITWTT | EPKSSDVRKA |
850 | 860 | 870 | 880 | 890 | 900 |
AQSVLISLFE | LNTPEFTMLL | GALPKTFQDG | ATKLLHNHLR | NTGNGTQSSM | GSPLTRPTPR |
910 | 920 | 930 | 940 | 950 | 960 |
SPANWSSPLT | SPTNTSQNTL | SPSAFDYDTE | NMNSEDIYSS | LRGVTEAIQN | FSFRSQEDMN |
970 | 980 | 990 | 1000 | 1010 | 1020 |
EPLKRDSKKD | DGDSMCGGPG | MSDPRAGGDA | TDSSQTALDN | KASLLHSMPT | HSSPRSRDYN |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
PYNYSDSISP | FNKSALKEAM | FDDDADQFPD | DLSLDHSDLV | AELLKELSNH | NERVEERKIA |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
LYELMKLTQE | ESFSVWDEHF | KTILLLLLET | LGDKEPTIRA | LALKVLREIL | RHQPARFKNY |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
AELTVMKTLE | AHKDPHKEVV | RSAEEAASVL | ATSISPEQCI | KVLCPIIQTA | DYPINLAAIK |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
MQTKVIERVS | KETLNLLLPE | IMPGLIQGYD | NSESSVRKAC | VFCLVAVHAV | IGDELKPHLS |
1270 | 1280 | 1290 | |||
QLTGSKMKLL | NLYIKRAQTG | SGGADPTTDV | SGQS |