P21127
Gene name |
CDK11B (CDC2L1, CDK11, PITSLREA, PK58) |
Protein name |
Cyclin-dependent kinase 11B |
Names |
Cell division cycle 2-like protein kinase 1, CLK-1, Cell division protein kinase 11B, Galactosyltransferase-associated protein kinase p58/GTA, PITSLRE serine/threonine-protein kinase CDC2L1, p58 CLK-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:984 |
EC number |
2.7.11.22: Protein-serine/threonine kinases |
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
579-602 (Activation loop from InterPro)
Target domain |
438-723 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

2 structures for P21127
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
7UKZ | X-ray | 260 A | A/B/C/D/E/F | 428-736 | PDB |
AF-P21127-F1 | Predicted | AlphaFoldDB |
520 variants for P21127
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
TCGA novel | 2 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 5 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1306776210 CA337897894 |
6 | D>E | No |
ClinGen gnomAD |
|
rs111987770 CA16790104 |
16 | I>V | No |
ClinGen Ensembl |
|
TCGA novel | 22 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1429250619 CA337897548 |
23 | R>K | No |
ClinGen TOPMed |
|
rs1456532562 CA337897526 |
25 | E>K | No |
ClinGen gnomAD |
|
CA529487 rs761815656 |
27 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337897476 rs761815656 |
27 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA337897464 rs1182195538 |
27 | E>V | No |
ClinGen gnomAD |
|
CA337897434 rs1249490619 |
29 | K>R | No |
ClinGen gnomAD |
|
CA529484 rs763206919 |
32 | I>R | No |
ClinGen ExAC gnomAD |
|
rs763206919 CA529483 |
32 | I>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 33 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1207552906 CA337897355 |
33 | K>R | No |
ClinGen gnomAD |
|
rs1355162260 CA337897336 |
34 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs775810981 CA529482 |
34 | R>H | No |
ClinGen ExAC gnomAD |
|
CA337897267 rs1229375743 |
37 | N>H | No |
ClinGen gnomAD |
|
TCGA novel | 37 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 37 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1207358214 CA337896751 |
38 | S>F | No |
ClinGen gnomAD |
|
CA529433 rs144413330 |
38 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1207358214 CA337896753 |
38 | S>Y | No |
ClinGen gnomAD |
|
rs1553165542 RCV000626811 CA337896738 |
40 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs756005151 CA337896734 |
41 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756005151 CA529432 |
41 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1274189920 CA337896722 |
43 | S>P | No |
ClinGen gnomAD |
|
CA337896689 rs1282147202 |
45 | R>Q | No |
ClinGen gnomAD |
|
rs1381635294 CA337896694 |
45 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA337896687 rs1461840614 |
46 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA337896628 rs1359507487 |
50 | E>* | No |
ClinGen TOPMed |
|
CA529429 rs781122852 |
51 | G>R | No |
ClinGen ExAC gnomAD |
|
CA16789331 rs866980379 |
53 | L>V | No |
ClinGen Ensembl |
|
rs1294942464 CA337896576 |
55 | D>H | No |
ClinGen TOPMed |
|
rs758430961 CA529428 |
56 | H>Q | No |
ClinGen ExAC gnomAD |
|
VAR_041958 CA529427 rs752740049 |
57 | R>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 62 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA529426 rs765350101 |
62 | I>V | No |
ClinGen ExAC gnomAD |
|
CA337896466 rs1350866229 |
63 | R>K | No |
ClinGen TOPMed |
|
CA337896458 rs1325594545 |
64 | N>H | No |
ClinGen TOPMed |
|
rs755140664 CA529425 |
64 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337896444 rs1411218541 |
65 | S>P | No |
ClinGen gnomAD |
|
rs1475114736 CA337896416 |
67 | Y>C | No |
ClinGen gnomAD |
|
CA529423 rs369063477 |
70 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA337896378 rs1482109985 |
70 | E>D | No |
ClinGen gnomAD |
|
rs1222407831 CA337896351 |
72 | S>C | No |
ClinGen gnomAD |
|
CA529420 rs768172239 |
73 | M>V | No |
ClinGen ExAC gnomAD |
|
CA337896314 rs1227497560 |
75 | D>H | No |
ClinGen gnomAD |
|
CA337895298 rs1463952954 |
79 | E>D | No |
ClinGen TOPMed |
|
rs1200345107 CA337895076 |
93 | R>Q | No |
ClinGen TOPMed |
|
VAR_057775 rs1059831 |
93 | R>W | No |
UniProt dbSNP |
|
rs1059830 VAR_062199 CA530655 |
109 | R>C | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
rs1490138549 CA890510055 |
109 | R>H | No |
ClinGen TOPMed |
|
rs1289281189 CA890510054 |
112 | R>H | No |
ClinGen TOPMed |
|
rs1339974096 CA337894958 |
116 | A>T | No |
ClinGen TOPMed |
|
rs1250630063 CA337894952 |
116 | A>V | No |
ClinGen TOPMed |
|
CA337894930 rs1332282385 |
118 | G>R | No |
ClinGen TOPMed |
|
rs1283555117 CA337894918 |
118 | G>V | No |
ClinGen TOPMed |
|
rs1301675317 CA337894909 |
119 | G>R | No |
ClinGen TOPMed |
|
rs1252661600 CA890508372 |
122 | A>T | No |
ClinGen TOPMed |
|
rs1204480273 CA890508357 |
128 | E>D | No |
ClinGen TOPMed |
|
CA890508350 rs1298828898 |
133 | R>H | No |
ClinGen TOPMed |
|
CA890508348 rs1230160650 |
134 | R>Q | No |
ClinGen TOPMed |
|
rs1350981089 CA997716521 |
136 | R>W | No |
ClinGen TOPMed |
|
rs1407417723 CA890508343 |
138 | R>* | No |
ClinGen TOPMed |
|
CA890508340 rs1303063468 |
138 | R>P | No |
ClinGen TOPMed |
|
rs1303063468 CA890508341 |
138 | R>Q | No |
ClinGen TOPMed |
|
rs1465175604 CA890508339 |
143 | K>E | No |
ClinGen TOPMed |
|
CA890508336 rs1377437836 |
145 | R>C | No |
ClinGen TOPMed |
|
rs1473878201 CA890508334 |
145 | R>H | No |
ClinGen TOPMed |
|
CA890508333 rs1473878201 |
145 | R>L | No |
ClinGen TOPMed |
|
CA890508331 rs1181616728 |
146 | R>Q | No |
ClinGen TOPMed |
|
rs1570173314 CA997716516 |
146 | R>W | No |
ClinGen Ensembl |
|
CA890508330 rs1436136818 |
151 | Q>H | No |
ClinGen TOPMed |
|
CA890508323 rs1483013369 |
156 | M>I | No |
ClinGen TOPMed |
|
CA890508322 rs1210317328 |
157 | A>P | No |
ClinGen TOPMed |
|
CA890508321 rs1210317328 |
157 | A>S | No |
ClinGen TOPMed |
|
CA337888739 rs1174653196 |
166 | D>Y | No |
ClinGen gnomAD |
|
CA337888728 rs1339724000 |
167 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA337888727 rs1339724000 |
167 | R>P | No |
ClinGen TOPMed gnomAD |
|
CA529101 rs773495263 |
168 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337888716 rs1377552420 |
169 | E>A | No |
ClinGen gnomAD |
|
rs767819308 CA529100 |
171 | L>S | No |
ClinGen ExAC gnomAD |
|
rs1293507267 CA337888693 |
172 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA529097 rs774737300 |
174 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769130614 CA529095 |
177 | R>W | No |
ClinGen ExAC gnomAD |
|
rs749864489 CA529093 |
178 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1270568313 CA337888649 |
179 | R>C | No |
ClinGen gnomAD |
|
rs774860795 CA529092 |
179 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1276985518 CA337888630 |
181 | M>I | No |
ClinGen gnomAD |
|
rs1570117644 CA337888634 |
181 | M>T | No |
ClinGen Ensembl |
|
rs1446527171 CA337888629 |
182 | R>G | No |
ClinGen gnomAD |
|
CA337888619 rs1331864720 |
183 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs745455961 CA529089 |
183 | E>K | No |
ClinGen ExAC gnomAD |
|
CA337888613 rs746773384 |
184 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781016922 CA529088 |
184 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA529087 rs757081958 |
184 | Q>P | No |
ClinGen ExAC |
|
rs1338035736 CA337888607 |
185 | Q>R | No |
ClinGen gnomAD |
|
rs777765880 CA337888603 |
186 | K>E | No |
ClinGen ExAC TOPMed |
|
rs777765880 CA529085 |
186 | K>Q | No |
ClinGen ExAC TOPMed |
|
rs758400906 CA529084 |
188 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs752682015 CA337888581 |
189 | R>G | No |
ClinGen ExAC gnomAD |
|
CA337888579 rs1245402769 |
189 | R>P | No |
ClinGen TOPMed |
|
CA337888580 rs1245402769 |
189 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA529083 rs752682015 |
189 | R>W | No |
ClinGen ExAC gnomAD |
|
CA16784153 rs1038411084 |
191 | Q>* | No |
ClinGen TOPMed gnomAD |
|
rs1442085216 CA337888548 |
193 | E>D | No |
ClinGen gnomAD |
|
CA337888544 rs1273399302 |
194 | R>C | No |
ClinGen gnomAD |
|
rs1557687409 CA337888543 |
194 | R>P | No |
ClinGen Ensembl |
|
rs766308868 CA529077 |
195 | E>K | No |
ClinGen ExAC gnomAD |
|
rs756238735 CA529076 |
196 | R>Q | No |
ClinGen ExAC |
|
CA337888532 rs941349586 |
196 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA337888529 rs1321091565 |
197 | R>W | No |
ClinGen TOPMed |
|
CA529073 rs762070251 |
199 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA337888483 rs1281936866 |
201 | R>Q | No |
ClinGen gnomAD |
|
rs1557687207 VAR_041959 CA337888489 |
201 | R>W | No |
ClinGen UniProt Ensembl dbSNP |
|
CA529071 rs751909295 |
202 | R>S | No |
ClinGen ExAC gnomAD |
|
CA337888460 rs1557687041 |
203 | K>E | No |
ClinGen Ensembl |
|
CA529069 rs764511274 |
203 | K>R | No |
ClinGen ExAC gnomAD |
|
rs763302908 CA529068 |
204 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1462441459 CA337888416 |
205 | R>L | No |
ClinGen gnomAD |
|
rs1462441459 CA337888420 |
205 | R>Q | No |
ClinGen gnomAD |
|
CA337888423 rs1170511382 |
205 | R>W | No |
ClinGen gnomAD |
|
rs1472575491 CA337888374 |
208 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA337888378 rs1472575491 |
208 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs1233715782 CA337888370 |
208 | R>H | No |
ClinGen gnomAD |
|
CA337888356 rs1180261446 |
210 | E>K | No |
ClinGen gnomAD |
|
rs1456327163 CA337888331 |
211 | V>M | No |
ClinGen gnomAD |
|
rs1254451635 CA337888146 |
214 | H>R | No |
ClinGen TOPMed |
|
CA337886452 rs1194056744 |
215 | H>R | No |
ClinGen gnomAD |
|
rs1489402875 CA337886439 |
216 | R>* | No |
ClinGen TOPMed gnomAD |
|
CA16783411 rs1017192386 |
216 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1017192386 CA337886432 |
216 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1361634214 CA337886297 |
220 | E>G | No |
ClinGen TOPMed |
|
CA337886269 rs1284884868 |
221 | D>E | No |
ClinGen TOPMed |
|
rs1243906393 CA337886166 |
223 | S>N | No |
ClinGen TOPMed |
|
rs1447013785 CA337886142 |
223 | S>R | No |
ClinGen gnomAD |
|
CA337886111 rs1287563199 |
224 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA337886072 rs1319964780 |
225 | K>N | No |
ClinGen TOPMed |
|
CA337885839 rs1308950435 |
233 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1235539064 CA337885835 |
233 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA337885769 rs1292362553 |
235 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1367228995 CA337885711 |
237 | R>Q | No |
ClinGen TOPMed |
|
rs1345803144 CA337885741 |
237 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA337885697 rs1300140364 |
238 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA337885668 rs1303407692 |
239 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA337885642 rs1209325457 |
240 | R>Q | No |
ClinGen TOPMed |
|
rs1418049739 CA337885657 |
240 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA337885624 rs1354421198 |
241 | E>Q | No |
ClinGen TOPMed |
|
CA337885594 rs1174004818 |
242 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1434744269 CA337885557 |
244 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA337885501 rs1322730373 |
245 | L>F | No |
ClinGen gnomAD |
|
rs1422809295 CA337885444 |
248 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1475715948 CA337885415 |
249 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA337885417 rs1190497380 |
249 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA16783404 rs984320513 |
253 | E>D | No |
ClinGen TOPMed |
|
CA337885315 rs1170112862 |
254 | A>T | No |
ClinGen TOPMed |
|
rs1264662623 CA337885268 |
256 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA337885251 rs1213878582 |
257 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA337885210 rs1430186658 |
259 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA337885209 rs1430186658 |
259 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA337885102 rs1317244941 |
263 | A>G | No |
ClinGen TOPMed |
|
rs1477205786 CA337885112 |
263 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA337885085 rs1255856740 |
264 | Q>H | No |
ClinGen TOPMed |
|
TCGA novel | 264 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 268 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1280134060 CA337884932 |
270 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs1192689926 CA337884865 |
274 | D>G | No |
ClinGen TOPMed |
|
rs759121244 CA529065 |
275 | L>V | No |
ClinGen ExAC gnomAD |
|
CA337884813 rs1244504220 |
278 | D>N | No |
ClinGen TOPMed |
|
rs1557679291 CA337884779 |
280 | Q>* | No |
ClinGen Ensembl |
|
CA337884700 rs1357168041 |
284 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA337884664 rs1429020925 |
286 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1425752604 CA337884560 |
291 | S>A | No |
ClinGen gnomAD |
|
rs770690340 CA529063 |
291 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337884524 rs1169970382 |
293 | E>G | No |
ClinGen TOPMed |
|
rs1183180806 CA337884529 |
293 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1463857018 CA337884512 |
294 | S>A | No |
ClinGen TOPMed |
|
CA337884508 rs1482083687 |
294 | S>F | No |
ClinGen gnomAD |
|
rs572321697 CA16783318 |
295 | S>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA529062 rs746722072 |
296 | S>L | No |
ClinGen ExAC gnomAD |
|
CA337884406 rs1417877699 |
297 | A>V | No |
ClinGen TOPMed |
|
rs1039813692 CA16783299 |
300 | G>R | No |
ClinGen TOPMed |
|
CA337884219 rs1247150802 |
304 | E>D | No |
ClinGen gnomAD |
|
CA337884217 rs1320129526 |
305 | E>K | No |
ClinGen gnomAD |
|
rs1354450751 CA337884108 |
308 | E>G | No |
ClinGen TOPMed |
|
rs1431640583 CA337884069 |
310 | E>G | No |
ClinGen gnomAD |
|
rs1313433763 CA337883932 |
315 | E>V | No |
ClinGen TOPMed |
|
CA337883831 rs1156320622 |
320 | S>G | No |
ClinGen TOPMed |
|
rs1455980297 CA337883738 |
324 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs1570085118 CA337883571 |
330 | E>K | No |
ClinGen Ensembl |
|
rs1268736511 CA337883329 |
336 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA337883341 rs1457697050 |
336 | E>G | No |
ClinGen gnomAD |
|
rs1570084592 CA337883328 |
337 | T>P | No |
ClinGen Ensembl |
|
rs1487509362 CA337883315 |
338 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA337883300 rs1487509362 |
338 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA337883095 rs984392575 |
343 | E>A | No |
ClinGen TOPMed |
|
CA16783260 rs984392575 |
343 | E>V | No |
ClinGen TOPMed |
|
rs1264953898 CA337883070 |
344 | A>S | No |
ClinGen gnomAD |
|
CA337883042 rs1457859985 |
346 | E>K | No |
ClinGen TOPMed |
|
CA337883028 rs1457859985 |
346 | E>Q | No |
ClinGen TOPMed |
|
rs951578924 CA16783258 |
348 | S>A | No |
ClinGen TOPMed |
|
CA337882931 rs1356159584 |
350 | E>K | No |
ClinGen gnomAD |
|
CA337882610 rs1478879731 |
351 | E>V | No |
ClinGen gnomAD |
|
rs1261125314 CA337882583 |
352 | V>I | No |
ClinGen gnomAD |
|
rs1279664552 CA337882556 |
353 | S>G | No |
ClinGen TOPMed |
|
rs747942866 CA337882356 |
360 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA529041 rs747942866 |
360 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA337882314 rs1198569829 |
361 | E>V | No |
ClinGen gnomAD |
|
CA337882284 rs1344206965 |
363 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs778622403 CA529040 |
363 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1461219235 CA337882174 |
369 | L>F | No |
ClinGen TOPMed |
|
rs1277046603 CA337882127 |
370 | L>F | No |
ClinGen gnomAD |
|
CA337881931 rs1361466218 |
372 | V>G | No |
ClinGen gnomAD |
|
CA529001 rs769701760 |
373 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA337881910 rs1436737357 |
374 | E>K | No |
ClinGen TOPMed |
|
rs540718028 CA529000 |
375 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA528999 rs773272740 |
376 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA337881873 rs1191642385 |
376 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs748349947 CA528997 |
378 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1287801341 CA337881835 |
379 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA528995 rs377732366 |
379 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA528994 rs749647213 |
380 | D>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 382 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA528992 rs200227742 |
382 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337881781 rs1273133831 |
383 | E>G | No |
ClinGen gnomAD |
|
rs750899653 CA528991 |
383 | E>K | No |
ClinGen ExAC gnomAD |
|
rs756741517 CA528989 |
385 | E>* | No |
ClinGen ExAC |
|
rs976711816 CA16782299 |
386 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA337881693 rs1344336261 |
388 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1418110685 CA337881697 |
388 | E>G | No |
ClinGen gnomAD |
|
CA337881686 rs371344302 |
389 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371344302 CA528987 |
389 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1416067608 CA337881657 |
391 | V>G | No |
ClinGen gnomAD |
|
rs1198063869 CA337881645 |
392 | G>D | No |
ClinGen gnomAD |
|
TCGA novel | 394 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA16782267 rs376460943 |
395 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
rs759406847 CA528983 |
396 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1367855230 CA337881542 |
398 | S>R | No |
ClinGen gnomAD |
|
CA337881537 rs1292215621 |
398 | S>T | No |
ClinGen gnomAD |
|
rs761764777 CA528980 |
400 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1223441158 CA337881499 |
401 | L>V | No |
ClinGen gnomAD |
|
rs1398340470 CA337881458 |
402 | T>I | No |
ClinGen gnomAD |
|
CA528978 rs768985113 |
402 | T>S | No |
ClinGen ExAC gnomAD |
|
rs780499738 CA528976 |
405 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201923408 CA528975 |
406 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1473303388 CA337881367 |
406 | Y>D | No |
ClinGen gnomAD |
|
rs1357220714 CA337881339 |
407 | V>A | No |
ClinGen gnomAD |
|
rs375622928 CA528973 |
409 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA528972 rs757824725 |
410 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs751014233 CA337881286 |
411 | P>H | No |
ClinGen ExAC gnomAD |
|
rs751014233 CA528971 |
411 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1409812261 CA337881248 |
412 | A>V | No |
ClinGen TOPMed |
|
CA528968 rs752355633 |
413 | L>V | No |
ClinGen ExAC gnomAD |
|
VAR_041960 CA337881209 rs1241694892 |
414 | S>L | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
CA528966 rs759277726 |
415 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337881156 rs1441181585 |
416 | I>M | No |
ClinGen TOPMed |
|
CA528965 rs200966225 |
416 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs766202713 CA528964 |
417 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA528963 rs760722578 |
418 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1269189922 CA337881115 |
419 | K>E | No |
ClinGen gnomAD |
|
rs1447391391 CA337881037 |
423 | P>L | No |
ClinGen gnomAD |
|
CA337881007 rs1570061156 |
425 | Y>S | No |
ClinGen Ensembl |
|
TCGA novel | 426 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs369699548 CA16782121 |
426 | L>V | No |
ClinGen ESP |
|
rs1402438913 CA337880979 |
427 | P>L | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 428 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA337880535 rs1157234581 |
433 | R>L | No |
ClinGen gnomAD |
|
CA337880542 rs1157234581 |
433 | R>Q | No |
ClinGen gnomAD |
|
CA528939 rs765357030 |
433 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA528937 rs776858200 |
435 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1268283770 CA337880430 |
438 | F>L | No |
ClinGen gnomAD |
|
CA528935 rs747420978 |
441 | L>P | No |
ClinGen ExAC gnomAD |
|
CA528933 rs772604810 |
445 | E>K | No |
ClinGen ExAC gnomAD |
|
rs747632761 CA528932 |
448 | T>A | No |
ClinGen ExAC gnomAD |
|
CA337880239 rs1322153382 |
448 | T>I | No |
ClinGen gnomAD |
|
CA337880235 rs1570034859 |
449 | Y>C | No |
ClinGen Ensembl |
|
VAR_045577 | 452 | V>A | No | UniProt | |
rs1316669460 CA337880186 |
453 | Y>H | No |
ClinGen gnomAD |
|
rs1432408391 CA337880163 |
454 | R>I | No |
ClinGen TOPMed gnomAD |
|
CA528929 rs748973415 |
457 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748973415 CA337880133 |
457 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA528928 rs779656126 |
458 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1435691040 CA337880085 |
460 | T>R | No |
ClinGen TOPMed |
|
rs1466638149 CA337931837 |
461 | D>G | No |
ClinGen TOPMed |
|
CA337880074 rs1476500609 |
461 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA337931832 rs1358437732 |
462 | E>K | No |
ClinGen TOPMed |
|
rs745607448 CA528906 |
463 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_041961 | 463 | I>V | No | UniProt | |
rs1367752921 CA337931810 |
464 | V>M | No |
ClinGen gnomAD |
|
CA337931772 rs1423693273 |
468 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1170462648 CA337931736 |
472 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs1557662466 | 473 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs778841263 CA528901 |
479 | P>L | No |
ClinGen ExAC |
|
CA337931637 rs1482647669 |
481 | T>M | No |
ClinGen TOPMed |
|
rs977110041 CA16848682 |
482 | S>* | No |
ClinGen Ensembl |
|
TCGA novel | 482 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762295562 CA528894 |
485 | E>D | No |
ClinGen ExAC gnomAD |
|
CA337931595 rs886688865 |
487 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs886688865 CA16848647 |
487 | N>T | No |
ClinGen TOPMed gnomAD |
|
rs1225944289 CA337931582 |
488 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs774972708 CA528893 |
489 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1347476518 CA337931561 |
491 | K>Q | No |
ClinGen gnomAD |
|
rs1301467630 CA337931556 |
491 | K>T | No |
ClinGen gnomAD |
|
rs762484910 CA528891 |
495 | P>R | No |
ClinGen ExAC gnomAD |
|
CA528887 rs781127365 |
498 | V>I | No |
ClinGen ExAC gnomAD |
|
CA528884 rs777730613 |
500 | V>I | No |
ClinGen ExAC |
|
CA337931455 rs1266168455 |
501 | R>G | No |
ClinGen gnomAD |
|
rs760252594 CA528849 |
502 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389425879 CA337931396 |
503 | I>L | No |
ClinGen gnomAD |
|
CA528848 rs773057444 |
503 | I>T | No |
ClinGen ExAC gnomAD |
|
VAR_045578 | 506 | G>S | No | UniProt | |
CA337931348 rs1473778680 |
508 | N>T | No |
ClinGen gnomAD |
|
CA528842 rs781262255 |
509 | M>I | No |
ClinGen ExAC |
|
rs745898300 CA528843 |
509 | M>T | No |
ClinGen ExAC gnomAD |
|
rs768611687 CA528844 |
509 | M>V | No |
ClinGen ExAC gnomAD |
|
CA528841 rs757431996 |
510 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1380316890 CA337931310 |
511 | K>R | No |
ClinGen gnomAD |
|
CA337931299 rs1557660593 |
512 | I>M | No |
ClinGen Ensembl |
|
CA528840 rs747259510 |
514 | I>V | No |
ClinGen ExAC gnomAD |
|
rs753220778 CA528837 |
515 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs753220778 CA528838 |
515 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA337931262 rs1186999203 |
516 | M>T | No |
ClinGen gnomAD |
|
CA528836 rs370329622 |
518 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370329622 CA337931237 |
518 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1383791147 CA337931192 |
522 | D>N | No |
ClinGen gnomAD |
|
CA528832 rs760363996 |
525 | S>N | No |
ClinGen ExAC gnomAD |
|
CA528830 rs767313483 |
528 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1300593168 CA337931112 |
529 | T>I | No |
ClinGen TOPMed |
|
CA16848012 rs202208701 |
531 | K>Q | No |
ClinGen Ensembl |
|
CA528826 rs776685455 |
532 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs564859169 CA16847963 |
536 | P>R | No |
ClinGen Ensembl |
|
CA337930998 rs1187750677 |
537 | G>E | No |
ClinGen gnomAD |
|
CA337930982 rs1570009624 |
539 | V>G | No |
ClinGen Ensembl |
|
rs753866422 CA528769 |
540 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1460447094 CA337930969 |
541 | T>I | No |
ClinGen gnomAD |
|
rs555805101 CA528767 |
542 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA528765 rs764354479 |
543 | M>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 544 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1271422192 CA337930947 |
545 | Q>* | No |
ClinGen TOPMed |
|
rs1451121916 CA337930934 |
547 | L>P | No |
ClinGen gnomAD |
|
rs1339904146 CA337930929 |
548 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1339904146 CA337930930 |
548 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs770250152 CA528762 |
548 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1394679088 CA337930923 |
549 | G>A | No |
ClinGen gnomAD |
|
rs1391651825 CA337930899 |
552 | H>Q | No |
ClinGen TOPMed |
|
rs1172247765 CA337930894 |
553 | L>P | No |
ClinGen TOPMed |
|
CA528759 CA337930887 rs746469679 |
554 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 555 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1425004481 CA337930886 |
555 | D>N | No |
ClinGen TOPMed |
|
CA528756 rs758045840 |
556 | N>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 558 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1183434157 CA337930814 |
561 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs778552932 CA528754 |
561 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA337930794 rs1222782510 |
563 | L>F | No |
ClinGen gnomAD |
|
rs780093115 CA528751 |
565 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764335905 CA528748 |
567 | N>S | No |
ClinGen ExAC gnomAD |
|
rs763073129 CA528747 |
571 | S>N | No |
ClinGen ExAC gnomAD |
|
CA528745 rs202189602 |
573 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs771365504 CA528742 |
574 | G>D | No |
ClinGen ExAC gnomAD |
|
CA528743 rs777000516 |
574 | G>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel rs1570007532 CA337930654 |
577 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
rs750812716 CA528705 |
578 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337930568 rs375742587 |
581 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1420640807 CA337930576 |
581 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs773909896 CA528702 |
582 | G>V | No |
ClinGen ExAC gnomAD |
|
CA337930547 rs1462668002 |
584 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs769600864 CA528698 |
585 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1277215727 CA337930539 |
585 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA337930541 rs769600864 |
585 | R>W | No |
ClinGen ExAC gnomAD |
|
CA528697 rs745605505 |
586 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1570004109 CA337930519 |
587 | Y>D | No |
ClinGen Ensembl |
|
CA337930509 rs1225987760 |
588 | G>R | No |
ClinGen gnomAD |
|
rs1364199097 CA337930491 |
589 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA16846834 rs948513727 |
590 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1294459593 CA337930487 |
590 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs779031774 CA528693 |
595 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA528692 rs755056478 |
595 | T>I | No |
ClinGen ExAC gnomAD |
|
rs537877586 CA528689 |
597 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200190129 CA528685 VAR_041962 |
601 | L>Q | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA337930364 rs1481080808 |
603 | Y>C | No |
ClinGen gnomAD |
|
rs1203299811 CA337930356 |
604 | R>C | No |
ClinGen gnomAD |
|
CA528684 rs542159780 |
604 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA337930353 rs542159780 |
604 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759262305 CA528681 |
605 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA528680 rs759262305 |
605 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1308982194 CA337930344 |
605 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1557656551 CA337930334 |
606 | P>L | No |
ClinGen Ensembl |
|
rs776479657 CA528679 |
606 | P>S | No |
ClinGen ExAC gnomAD |
|
CA337930332 rs1374890801 |
607 | E>* | No |
ClinGen gnomAD |
|
CA528676 rs772985283 |
611 | G>S | No |
ClinGen ExAC gnomAD |
|
rs576381801 CA528675 |
612 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 612 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 613 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA528632 rs776784906 |
615 | Y>* | No |
ClinGen ExAC gnomAD |
|
CA528631 rs574549646 |
617 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA528630 rs747318216 |
617 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337930192 rs574549646 |
617 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA337930185 rs773696333 |
618 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773696333 CA528629 |
618 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772610257 CA528628 |
619 | V>L | No |
ClinGen ExAC gnomAD |
|
rs772610257 CA337930176 |
619 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1557655576 CA337930166 |
620 | D>N | No |
ClinGen Ensembl |
|
rs1295978790 CA337930152 |
621 | M>L | No |
ClinGen TOPMed gnomAD |
|
CA528626 rs779515788 |
621 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1295978790 CA337930154 |
621 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA337930133 rs1557655509 |
622 | W>C | No |
ClinGen Ensembl |
|
CA337930118 rs1383571103 |
624 | V>A | No |
ClinGen gnomAD |
|
CA337930122 rs1302968235 |
624 | V>L | No |
ClinGen TOPMed |
|
rs375402811 CA528623 |
627 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1473407271 CA337930072 |
629 | G>R | No |
ClinGen gnomAD |
|
rs750126951 CA337930053 |
631 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1445209438 CA337930004 |
636 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA337930002 rs1445209438 |
636 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA528618 rs373048979 |
638 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA16846270 rs934264822 |
639 | P>L | No |
ClinGen TOPMed |
|
rs867526990 CA16846284 |
639 | P>S | No |
ClinGen Ensembl |
|
CA528615 CA528614 rs766534863 |
640 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1470035005 CA337929969 |
641 | K>E | No |
ClinGen TOPMed |
|
rs1231675499 CA337929965 |
641 | K>M | No |
ClinGen TOPMed |
|
CA528612 VAR_041963 rs1059815 |
641 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
TCGA novel | 642 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs368684206 CA528609 |
643 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA528610 rs748468119 |
643 | E>K | No |
ClinGen ExAC gnomAD |
|
rs749864472 CA528607 |
645 | D>N | No |
ClinGen ExAC gnomAD |
|
CA337929925 rs375076568 |
646 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
CA16846201 rs375076568 |
646 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
rs1230454139 CA337929921 |
646 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA337929919 rs1329733028 |
647 | I>L | No |
ClinGen TOPMed gnomAD |
|
rs779410025 CA528606 |
647 | I>M | No |
ClinGen ExAC gnomAD |
|
CA337929918 rs1329733028 |
647 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA337929904 rs1306698051 |
649 | K>E | No |
ClinGen gnomAD |
|
rs17424311 CA337929899 |
649 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA337929901 rs1368437160 |
649 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1374588001 CA337929897 |
650 | V>L | No |
ClinGen TOPMed |
|
rs150949339 CA337929857 CA528568 |
653 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1189900905 CA337929849 |
655 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA337929845 rs1249125779 |
656 | T>P | No |
ClinGen gnomAD |
|
rs746631092 CA528564 |
658 | S>G | No |
ClinGen ExAC |
|
rs777440368 CA528562 |
659 | E>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 659 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1211054274 CA337929818 |
660 | K>E | No |
ClinGen gnomAD |
|
rs1382257865 CA337929812 |
660 | K>N | No |
ClinGen gnomAD |
|
rs1314221225 CA337929805 |
661 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs1193802370 CA337929807 |
661 | I>T | No |
ClinGen TOPMed |
|
CA528561 rs771639524 |
663 | P>R | No |
ClinGen ExAC gnomAD |
|
CA16845837 rs370926382 |
663 | P>S | No |
ClinGen ESP TOPMed |
|
rs1239138600 CA337929789 |
664 | G>D | No |
ClinGen TOPMed |
|
rs377152408 CA528559 |
664 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA337929770 rs1306894881 |
667 | E>K | No |
ClinGen TOPMed |
|
CA528556 rs781390964 |
669 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1059811 VAR_041964 CA528554 |
670 | A>V | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 671 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs764317861 CA528553 |
671 | V>G | No |
ClinGen ExAC |
|
CA528549 rs544476560 |
673 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1363358102 CA337929664 |
674 | M>I | No |
ClinGen TOPMed |
|
CA337929671 rs1454387502 |
674 | M>T | No |
ClinGen TOPMed |
|
rs1182586795 CA337929575 |
678 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs772605268 CA528545 |
679 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772605268 CA337929542 |
679 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772605268 CA528544 |
679 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337929529 rs771754680 |
680 | P>H | No |
ClinGen ExAC gnomAD |
|
rs771754680 CA528543 |
680 | P>R | No |
ClinGen ExAC gnomAD |
|
CA337929515 rs1276563976 |
681 | Y>C | No |
ClinGen gnomAD |
|
CA337929488 rs1349322374 |
683 | N>D | No |
ClinGen TOPMed |
|
rs1312805373 CA337929467 |
684 | L>F | No |
ClinGen gnomAD |
|
CA337929469 rs1312805373 |
684 | L>V | No |
ClinGen gnomAD |
|
rs1376368167 CA337929448 |
685 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1376368167 CA337929446 |
685 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs749127161 CA528539 |
686 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1557652895 CA337929419 |
687 | R>C | No |
ClinGen Ensembl |
|
CA528538 rs369695164 |
687 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1390024579 CA337929394 |
689 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA337929401 rs1428375413 |
689 | G>R | No |
ClinGen gnomAD |
|
rs1425585204 CA337929387 |
690 | A>T | No |
ClinGen gnomAD |
|
CA528535 rs558444447 |
692 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs558444447 CA337929363 |
692 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA337929337 rs1482609380 |
694 | D>N | No |
ClinGen gnomAD |
|
CA337928697 rs1223716962 |
696 | G>S | No |
ClinGen gnomAD |
|
CA528531 rs765551155 |
698 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA528529 rs754220811 |
699 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337928633 rs1317097195 |
700 | M>L | No |
ClinGen TOPMed gnomAD |
|
CA528527 rs761155518 |
700 | M>T | No |
ClinGen ExAC gnomAD |
|
CA337928630 rs1317097195 |
700 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA337928601 rs1193412235 |
701 | N>K | No |
ClinGen TOPMed |
|
rs1245715314 CA337928508 |
704 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA337928506 rs1245715314 |
704 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs1223130557 CA337928491 |
706 | Y>H | No |
ClinGen TOPMed |
|
CA337928437 rs1370933393 |
710 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA337928385 rs1432548296 |
714 | A>P | No |
ClinGen TOPMed |
|
rs1569983299 CA337928302 |
720 | H>N | No |
ClinGen Ensembl |
|
rs1235798629 CA337928248 |
724 | R>C | No |
ClinGen gnomAD |
|
rs1310825098 CA337928243 |
724 | R>L | No |
ClinGen gnomAD |
|
CA337928240 rs1167488059 |
725 | E>K | No |
ClinGen TOPMed |
|
CA337928216 rs1475726841 |
726 | T>I | No |
ClinGen TOPMed |
|
CA337928228 rs1569982956 |
726 | T>P | No |
ClinGen Ensembl |
|
rs1569982722 CA337928198 |
728 | L>P | No |
ClinGen Ensembl |
|
CA337928199 rs1436512563 |
728 | L>V | No |
ClinGen gnomAD |
|
CA16845484 rs888686909 |
729 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA337928181 rs888686909 |
729 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1318687184 CA337928176 |
730 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA337928157 rs1208187954 |
731 | D>H | No |
ClinGen TOPMed |
|
CA337928136 rs1403094020 |
732 | P>H | No |
ClinGen gnomAD |
|
CA337928129 rs1569982357 |
733 | S>P | No |
ClinGen Ensembl |
|
rs1463454727 CA337928113 |
734 | M>V | No |
ClinGen TOPMed |
|
rs1569982248 CA337928092 |
735 | F>S | No |
ClinGen Ensembl |
|
rs1274995966 CA337928076 |
737 | T>M | No |
ClinGen TOPMed |
|
rs1569982069 CA337928065 |
738 | W>* | No |
ClinGen Ensembl |
|
rs1394287812 CA337928011 |
742 | S>G | No |
ClinGen gnomAD |
|
rs1169112508 CA337927936 |
746 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1215906723 CA337927930 |
746 | R>H | No |
ClinGen TOPMed |
|
rs1362233771 CA337927889 |
748 | K>N | No |
ClinGen TOPMed |
|
rs1287743213 CA337927873 |
749 | R>Q | No |
ClinGen TOPMed |
|
rs1387775314 CA337927782 |
755 | P>S | No |
ClinGen gnomAD |
|
CA337927631 rs1328479117 |
763 | S>G | No |
ClinGen TOPMed |
|
CA337927628 rs1553156055 |
763 | S>N | No |
ClinGen Ensembl |
|
rs1569980453 CA337927570 |
766 | G>D | No |
ClinGen Ensembl |
|
CA337927458 rs1303580057 |
773 | T>M | No |
ClinGen TOPMed |
|
rs1292105702 CA337927324 |
787 | A>T | No |
ClinGen TOPMed |
|
CA337927298 rs1168198221 |
790 | G>S | No |
ClinGen TOPMed |
No associated diseases with P21127
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.22 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
2 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
6 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
cyclin-dependent protein serine/threonine kinase activity | Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
RNA binding | Binding to an RNA molecule or a portion thereof. |
10 GO annotations of biological process
Name | Definition |
---|---|
apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
regulation of centrosome cycle | Any process that modulates the frequency, rate or extent of the centrosome cycle, the processes of centrosome duplication and separation. |
regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
regulation of mRNA processing | Any process that modulates the frequency, rate or extent of mRNA processing, those processes involved in the conversion of a primary mRNA transcript into a mature mRNA prior to its translation into polypeptide. |
18 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q2TBL8 | CDK10 | Cyclin-dependent kinase 10 | Bos taurus (Bovine) | PR |
Q15131 | CDK10 | Cyclin-dependent kinase 10 | Homo sapiens (Human) | PR |
Q9UQ88 | CDK11A | Cyclin-dependent kinase 11A | Homo sapiens (Human) | PR |
Q00526 | CDK3 | Cyclin-dependent kinase 3 | Homo sapiens (Human) | PR |
Q96Q40 | CDK15 | Cyclin-dependent kinase 15 | Homo sapiens (Human) | PR |
O94921 | CDK14 | Cyclin-dependent kinase 14 | Homo sapiens (Human) | PR |
Q00537 | CDK17 | Cyclin-dependent kinase 17 | Homo sapiens (Human) | PR |
P49336 | CDK8 | Cyclin-dependent kinase 8 | Homo sapiens (Human) | PR |
Q9BWU1 | CDK19 | Cyclin-dependent kinase 19 | Homo sapiens (Human) | PR |
P50750 | CDK9 | Cyclin-dependent kinase 9 | Homo sapiens (Human) | PR |
Q5MAI5 | CDKL4 | Cyclin-dependent kinase-like 4 | Homo sapiens (Human) | PR |
Q00532 | CDKL1 | Cyclin-dependent kinase-like 1 | Homo sapiens (Human) | PR |
Q92772 | CDKL2 | Cyclin-dependent kinase-like 2 | Homo sapiens (Human) | PR |
Q8IZL9 | CDK20 | Cyclin-dependent kinase 20 | Homo sapiens (Human) | PR |
Q3UMM4 | Cdk10 | Cyclin-dependent kinase 10 | Mus musculus (Mouse) | PR |
Q4KM47 | Cdk10 | Cyclin-dependent kinase 10 | Rattus norvegicus (Rat) | PR |
Q09437 | cdk-11.1 | Cyclin-dependent kinase 11.1 | Caenorhabditis elegans | PR |
Q9FGW5 | CDKG1 | Cyclin-dependent kinase G1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MGDEKDSWKV | KTLDEILQEK | KRRKEQEEKA | EIKRLKNSDD | RDSKRDSLEE | GELRDHRMEI |
70 | 80 | 90 | 100 | 110 | 120 |
TIRNSPYRRE | DSMEDRGEED | DSLAIKPPQQ | MSRKEKAHHR | KDEKRKEKRR | HRSHSAEGGK |
130 | 140 | 150 | 160 | 170 | 180 |
HARVKEKERE | HERRKRHREE | QDKARREWER | QKRREMAREH | SRRERDRLEQ | LERKRERERK |
190 | 200 | 210 | 220 | 230 | 240 |
MREQQKEQRE | QKERERRAEE | RRKEREARRE | VSAHHRTMRE | DYSDKVKASH | WSRSPPRPPR |
250 | 260 | 270 | 280 | 290 | 300 |
ERFELGDGRK | PGEARPAPAQ | KPAQLKEEKM | EERDLLSDLQ | DISDSERKTS | SAESSSAESG |
310 | 320 | 330 | 340 | 350 | 360 |
SGSEEEEEEE | EEEEEEGSTS | EESEEEEEEE | EEEEEETGSN | SEEASEQSAE | EVSEEEMSED |
370 | 380 | 390 | 400 | 410 | 420 |
EERENENHLL | VVPESRFDRD | SGESEEAEEE | VGEGTPQSSA | LTEGDYVPDS | PALSPIELKQ |
430 | 440 | 450 | 460 | 470 | 480 |
ELPKYLPALQ | GCRSVEEFQC | LNRIEEGTYG | VVYRAKDKKT | DEIVALKRLK | MEKEKEGFPI |
490 | 500 | 510 | 520 | 530 | 540 |
TSLREINTIL | KAQHPNIVTV | REIVVGSNMD | KIYIVMNYVE | HDLKSLMETM | KQPFLPGEVK |
550 | 560 | 570 | 580 | 590 | 600 |
TLMIQLLRGV | KHLHDNWILH | RDLKTSNLLL | SHAGILKVGD | FGLAREYGSP | LKAYTPVVVT |
610 | 620 | 630 | 640 | 650 | 660 |
LWYRAPELLL | GAKEYSTAVD | MWSVGCIFGE | LLTQKPLFPG | KSEIDQINKV | FKDLGTPSEK |
670 | 680 | 690 | 700 | 710 | 720 |
IWPGYSELPA | VKKMTFSEHP | YNNLRKRFGA | LLSDQGFDLM | NKFLTYFPGR | RISAEDGLKH |
730 | 740 | 750 | 760 | 770 | 780 |
EYFRETPLPI | DPSMFPTWPA | KSEQQRVKRG | TSPRPPEGGL | GYSQLGDDDL | KETGFHLTTT |
790 | |||||
NQGASAAGPG | FSLKF |