Q16513
Gene name |
PKN2 (PRK2, PRKCL2) |
Protein name |
Serine/threonine-protein kinase N2 |
Names |
PKN gamma, Protein kinase C-like 2, Protein-kinase C-related kinase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5586 |
EC number |
2.7.11.13: Protein-serine/threonine kinases |
Protein Class |
SERINE/THREONINE-PROTEIN KINASE (PTHR24356) |

Descriptions
Serine/threonine-protein kinase N2 (PKN2) is a PKC-related serine/threonine protein kinase involved in specific signal transduction responses such as regulation of the intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion and transcription regulation in cells. Its kinase activity is enhanced by fatty acids such as arachidonic acid and small GTP-binding protein Rho in a GTP-dependent manner. The residues 455-511 of PKN selectively inhibits the kinase activity of the catalytic fragment of PKN2. Arachidonic acid relieves the catalytic activity of wild-type PKN from autoinhibition by residues 455-511 of PKN.
Autoinhibitory domains (AIDs)
Target domain |
657-916 (Protein kinase domain) |
Relief mechanism |
Ligand binding, PTM |
Assay |
Split protein assay, Mutagenesis experiment |
Accessory elements
799-822 (Activation loop from InterPro)
Target domain |
657-916 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Yoshinaga C et al. (1999) "Mutational analysis of the regulatory mechanism of PKN: the regulatory region of PKN contains an arachidonic acid-sensitive autoinhibitory domain", Journal of biochemistry, 126, 475-84
- Huang X et al. (2003) "Crystal structure of an inactive Akt2 kinase domain", Structure (London, England : 1993), 11, 21-30
- Truebestein L et al. (2021) "Structure of autoinhibited Akt1 reveals mechanism of PIP(3)-mediated activation", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Lučić I et al. (2018) "Conformational sampling of membranes by Akt controls its activation and inactivation", Proceedings of the National Academy of Sciences of the United States of America, 115, E3940-E3949
Autoinhibited structure

Activated structure

5 structures for Q16513
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
4CRS | X-ray | 275 A | A | 646-984 | PDB |
4RRV | X-ray | 141 A | B | 969-983 | PDB |
6CCY | X-ray | 218 A | A | 969-983 | PDB |
6GBE | NMR | - | B | 973-984 | PDB |
AF-Q16513-F1 | Predicted | AlphaFoldDB |
496 variants for Q16513
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA26731417 rs868244289 |
2 | A>E | No |
ClinGen Ensembl |
|
CA937274 rs780577542 |
5 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1445438865 CA341133635 |
6 | E>Q | No |
ClinGen gnomAD |
|
CA937276 rs557475072 |
7 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs557475072 CA937275 |
7 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA341133644 rs557475072 |
7 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1309924103 CA341133643 |
7 | R>W | No |
ClinGen TOPMed |
|
CA341133646 rs1225868815 |
8 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA341133655 rs1570468657 |
9 | E>G | No |
ClinGen Ensembl |
|
rs771648470 CA937279 |
12 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA341133674 rs1469287048 |
12 | L>P | No |
ClinGen gnomAD |
|
CA341133680 rs1212178684 |
13 | T>R | No |
ClinGen TOPMed gnomAD |
|
CA937295 rs755439353 |
17 | G>E | No |
ClinGen ExAC gnomAD |
|
CA340984376 rs1438871655 |
18 | D>N | No |
ClinGen gnomAD |
|
CA937297 rs748752260 |
19 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM912874 CA937298 COSM912873 rs369171613 |
20 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs370072062 CA937299 |
21 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA937300 rs569991850 |
21 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1272545321 CA340984488 |
22 | L>F | No |
ClinGen gnomAD |
|
rs1195000769 CA340984497 |
22 | L>P | No |
ClinGen TOPMed |
|
rs375306359 CA937301 |
23 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1396549478 CA340984510 |
23 | P>S | No |
ClinGen gnomAD |
|
rs1283083806 CA340984547 |
25 | S>P | No |
ClinGen TOPMed |
|
CA937303 rs759296341 |
27 | N>I | No |
ClinGen ExAC gnomAD |
|
rs554901372 CA26506316 |
28 | V>G | No |
ClinGen Ensembl |
|
rs1349403027 CA340984676 |
30 | A>V | No |
ClinGen TOPMed |
|
rs762961632 CA937306 |
31 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1232940683 CA340984782 |
35 | D>G | No |
ClinGen TOPMed |
|
CA937309 rs756239015 |
38 | D>G | No |
ClinGen ExAC gnomAD |
|
rs199689449 CA937310 |
40 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA937311 rs754148816 |
47 | D>V | No |
ClinGen ExAC gnomAD |
|
CA937312 rs755386338 |
49 | K>R | No |
ClinGen ExAC gnomAD |
|
CA340985282 rs1273606227 |
50 | D>H | No |
ClinGen TOPMed |
|
CA937313 rs200490316 |
51 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA340985866 COSM1627236 COSM1627235 rs1319573010 |
70 | R>K | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs758978121 CA937315 |
70 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1277593226 CA340985958 |
75 | D>N | No |
ClinGen gnomAD |
|
CA340986046 rs1353970790 |
78 | S>N | No |
ClinGen gnomAD |
|
rs534807987 CA26506319 |
79 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA937319 rs776261877 |
79 | L>S | No |
ClinGen ExAC gnomAD |
|
CA937318 rs534807987 |
79 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs745577228 CA937320 |
82 | V>I | No |
ClinGen ExAC gnomAD |
|
rs775357803 CA937323 |
84 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1048925205 CA26506321 |
88 | K>T | No |
ClinGen Ensembl |
|
rs1159473611 CA340986277 |
90 | N>D | No |
ClinGen gnomAD |
|
CA340986359 rs1363032285 |
92 | K>I | No |
ClinGen TOPMed gnomAD |
|
rs12039846 CA937324 VAR_050562 |
94 | E>D | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs774201827 CA937326 |
98 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA340986558 rs1570562056 |
101 | Q>L | No |
ClinGen Ensembl |
|
CA937328 rs766629280 |
104 | N>S | No |
ClinGen ExAC gnomAD |
|
CA340986663 rs1355827893 |
106 | H>R | No |
ClinGen gnomAD |
|
CA26506322 rs1004026198 |
108 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA340986713 rs1183033418 |
108 | V>I | No |
ClinGen gnomAD |
|
rs372785607 CA937333 |
112 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA937334 rs372785607 |
112 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA937335 rs778314261 |
114 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1309968358 CA340986846 |
115 | I>T | No |
ClinGen TOPMed |
|
rs763373764 CA937355 |
119 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1557592857 CA340992308 |
119 | P>L | No |
ClinGen Ensembl |
|
CA26508453 rs988476536 |
121 | T>A | No |
ClinGen Ensembl |
|
CA26508455 rs201995133 |
121 | T>I | No |
ClinGen gnomAD |
|
CA26508454 rs201995133 |
121 | T>S | No |
ClinGen gnomAD |
|
rs764424876 CA937356 |
123 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA340992402 rs1444853186 |
124 | T>A | No |
ClinGen TOPMed |
|
rs965419009 CA26508456 |
124 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA937357 rs752005316 |
125 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1368280462 CA340992482 |
127 | N>D | No |
ClinGen gnomAD |
|
rs757765901 CA937358 |
128 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1298647721 CA340992533 |
129 | P>A | No |
ClinGen TOPMed gnomAD |
|
rs1311087412 CA340992545 |
129 | P>L | No |
ClinGen gnomAD |
|
rs1298647721 CA340992535 |
129 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs780638510 CA937359 |
130 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA937360 rs749956821 |
130 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA937361 rs755666862 |
131 | C>G | No |
ClinGen ExAC gnomAD |
|
rs779723190 CA937362 |
132 | S>C | No |
ClinGen ExAC gnomAD |
|
CA937363 rs748955934 |
133 | T>A | No |
ClinGen ExAC gnomAD |
|
rs976482831 CA26508457 |
136 | N>S | No |
ClinGen Ensembl |
|
rs369178376 CA937365 |
137 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
rs1267206495 CA340992857 |
139 | K>E | No |
ClinGen gnomAD |
|
CA937366 rs748061161 |
140 | A>T | No |
ClinGen ExAC gnomAD |
|
CA340992897 rs430600 |
141 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA340992900 rs430600 |
141 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA340992922 rs1421789734 |
142 | Q>K | No |
ClinGen gnomAD |
|
CA340992966 rs1360363280 |
144 | Q>R | No |
ClinGen TOPMed |
|
rs769831827 CA340994055 |
153 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA26508458 rs894421519 |
159 | I>L | No |
ClinGen TOPMed |
|
CA937396 rs768782342 |
170 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1284048661 CA340996330 |
170 | R>W | No |
ClinGen gnomAD |
|
rs774604515 CA937397 |
174 | G>A | No |
ClinGen ExAC gnomAD |
|
rs376874389 CA26509533 |
176 | A>T | No |
ClinGen ESP TOPMed |
|
rs1471903688 CA340996534 |
180 | L>H | No |
ClinGen gnomAD |
|
rs1303947081 CA340996548 |
181 | Q>* | No |
ClinGen TOPMed |
|
rs767932381 CA937399 |
181 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1384345143 CA340996568 |
182 | D>N | No |
ClinGen gnomAD |
|
CA340996595 rs1440312239 |
183 | S>G | No |
ClinGen gnomAD |
|
rs1160369095 CA340996625 |
184 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs202004408 CA26509534 |
185 | T>I | No |
ClinGen Ensembl |
|
rs1358475710 CA340996677 |
187 | I>V | No |
ClinGen gnomAD |
|
rs1418597625 CA340996707 |
189 | V>I | No |
ClinGen gnomAD |
|
CA340996729 rs1334192780 |
191 | R>Q | No |
ClinGen gnomAD |
|
CA937400 rs773693781 |
195 | L>P | No |
ClinGen ExAC gnomAD |
|
rs35207128 CA937401 VAR_050563 |
197 | A>E | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1458913018 CA340996774 |
198 | V>I | No |
ClinGen TOPMed |
|
rs1570603286 CA340996798 |
201 | N>S | No |
ClinGen Ensembl |
|
CA340996817 rs1242701866 |
203 | L>M | No |
ClinGen gnomAD |
|
CA340996838 rs1316205175 |
204 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA937403 rs753313275 |
205 | F>S | No |
ClinGen ExAC gnomAD |
|
CA340996862 rs1353560507 |
206 | D>N | No |
ClinGen gnomAD |
|
CA937404 rs754570164 |
207 | N>D | No |
ClinGen ExAC |
|
rs554689332 CA937426 |
209 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs554689332 CA340997137 |
209 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA340997156 rs1169033224 |
210 | P>L | No |
ClinGen gnomAD |
|
rs762700932 CA937427 |
210 | P>S | No |
ClinGen ExAC gnomAD |
|
rs960420027 CA26509641 |
212 | I>M | No |
ClinGen Ensembl |
|
CA937428 rs763943376 |
212 | I>V | No |
ClinGen ExAC gnomAD |
|
CA340997214 rs1387917850 |
214 | P>S | No |
ClinGen gnomAD |
|
rs1232666178 CA340997266 |
218 | R>Q | No |
ClinGen TOPMed |
|
rs1329787510 CA340997292 |
219 | M>I | No |
ClinGen gnomAD |
|
rs751331530 CA937429 |
219 | M>L | No |
ClinGen ExAC gnomAD |
|
CA937430 rs751331530 |
219 | M>V | No |
ClinGen ExAC gnomAD |
|
rs780960176 CA937431 |
220 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA937432 rs750438603 |
223 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1342657045 CA340997352 |
227 | R>G | No |
ClinGen gnomAD |
|
rs755033620 CA937433 |
227 | R>S | No |
ClinGen ExAC gnomAD |
|
CA340997423 rs1255986406 |
237 | K>R | No |
ClinGen gnomAD |
|
rs778975507 CA937434 |
240 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1570605376 CA340997461 |
242 | L>* | No |
ClinGen Ensembl |
|
rs1570605376 CA340997460 |
242 | L>S | No |
ClinGen Ensembl |
|
rs772307376 CA340997499 |
248 | V>A | No |
ClinGen ExAC TOPMed |
|
rs772307376 CA937436 |
248 | V>E | No |
ClinGen ExAC TOPMed |
|
CA340997501 rs1570605478 |
249 | T>P | No |
ClinGen Ensembl |
|
CA340997515 rs1442594975 |
251 | R>G | No |
ClinGen TOPMed |
|
CA340997577 rs1488991897 |
258 | Q>R | No |
ClinGen gnomAD |
|
CA937454 rs375574349 |
259 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1236124411 CA340997601 |
261 | F>L | No |
ClinGen TOPMed |
|
CA937458 rs148288884 |
273 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA340997713 rs1362936396 |
277 | Q>E | No |
ClinGen gnomAD |
|
rs1320896682 CA340997722 |
278 | R>K | No |
ClinGen TOPMed |
|
rs770448851 CA937460 |
279 | L>* | No |
ClinGen ExAC gnomAD |
|
CA340997729 rs770448851 |
279 | L>* | No |
ClinGen ExAC gnomAD |
|
CA937461 rs776187067 |
280 | N>H | No |
ClinGen ExAC gnomAD |
|
rs373700833 CA340997739 |
280 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA937463 rs768278690 |
281 | E>K | No |
ClinGen ExAC gnomAD |
|
CA937464 rs773858363 |
282 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1013798837 CA26509647 |
285 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA340997777 rs1244901789 |
286 | H>Y | No |
ClinGen gnomAD |
|
rs767148393 CA937466 |
289 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767148393 CA26509648 |
289 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773087811 CA937467 |
290 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1557600290 CA340997817 |
292 | I>V | No |
ClinGen Ensembl |
|
rs371630794 CA937468 |
293 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1570605926 CA340997825 |
293 | I>V | No |
ClinGen Ensembl |
|
CA937469 rs766275815 |
295 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA26509649 rs925388968 |
296 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA937470 rs753843579 |
297 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1179604608 CA340997864 |
299 | V>A | No |
ClinGen gnomAD |
|
CA340997883 rs1348179159 |
302 | S>L | No |
ClinGen TOPMed |
|
CA340997895 rs1158531736 COSM1344703 COSM1344702 |
304 | T>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs757532415 CA937474 |
306 | S>N | No |
ClinGen ExAC gnomAD |
|
CA937475 rs781364161 |
308 | R>C | No |
ClinGen ExAC gnomAD |
|
CA340997916 rs1405538644 |
308 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA26509650 rs540997930 |
309 | Q>H | No |
ClinGen TOPMed |
|
rs373232178 CA937476 |
310 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs749868011 CA937479 |
312 | I>M | No |
ClinGen ExAC gnomAD |
|
rs780702051 CA937478 |
312 | I>T | No |
ClinGen ExAC gnomAD |
|
CA937477 rs756585615 |
312 | I>V | No |
ClinGen ExAC gnomAD |
|
rs767989088 CA937480 |
313 | S>F | No |
ClinGen ExAC gnomAD |
|
CA26509652 rs756389305 |
313 | S>P | No |
ClinGen Ensembl |
|
rs773912328 CA937481 |
314 | T>A | No |
ClinGen ExAC |
|
COSM912890 rs540999973 CA937482 COSM912889 |
314 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs778328965 CA26509653 |
315 | Q>R | No |
ClinGen Ensembl |
|
CA26509654 rs111704755 |
316 | N>S | No |
ClinGen Ensembl |
|
CA937486 rs559326247 |
317 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759522341 CA937488 |
318 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764041928 CA937489 |
319 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1231810798 CA340997982 |
319 | S>R | No |
ClinGen Ensembl |
|
CA340998047 rs9651072 |
327 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1299447136 CA341000622 |
334 | R>C | No |
ClinGen gnomAD |
|
rs755344967 CA937516 |
334 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779473256 CA341000642 |
336 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779473256 CA937517 |
336 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA341000688 rs1303851116 |
338 | C>Y | No |
ClinGen gnomAD |
|
CA937518 rs201111346 |
341 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1244152921 CA341000775 |
342 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA341000797 rs1354985553 |
344 | N>H | No |
ClinGen gnomAD |
|
CA341000876 rs770594472 |
348 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1253742289 CA341001003 |
354 | V>F | No |
ClinGen TOPMed |
|
rs1253742289 CA341000995 |
354 | V>I | No |
ClinGen TOPMed |
|
CA937524 rs745647473 |
355 | A>P | No |
ClinGen ExAC gnomAD |
|
CA341001028 rs1346631601 |
355 | A>V | No |
ClinGen Ensembl |
|
rs1246895158 CA341001066 |
357 | P>R | No |
ClinGen TOPMed |
|
CA937526 rs368676500 |
361 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762811155 CA341001189 |
362 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA937527 rs762811155 |
362 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1159838605 CA341001201 |
362 | S>I | No |
ClinGen gnomAD |
|
rs200726637 CA937528 |
364 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs773453237 CA937529 |
365 | R>G | No |
ClinGen ExAC |
|
CA937530 rs760928465 |
366 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1483139351 CA341001349 |
368 | F>S | No |
ClinGen TOPMed |
|
CA26511384 rs187178031 |
371 | R>K | No |
ClinGen 1000Genomes |
|
rs1230908264 CA341001497 |
373 | S>G | No |
ClinGen TOPMed |
|
CA341001501 rs1343128107 |
373 | S>T | No |
ClinGen TOPMed |
|
CA937533 rs759934764 |
374 | K>R | No |
ClinGen ExAC gnomAD |
|
rs373814749 CA937534 |
376 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758934826 CA937537 |
378 | G>R | No |
ClinGen ExAC TOPMed |
|
CA26511395 rs964069976 |
380 | S>R | No |
ClinGen Ensembl |
|
rs371274223 CA937538 |
381 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA341001728 rs1373396584 |
383 | L>I | No |
ClinGen TOPMed |
|
CA937540 rs751048428 |
383 | L>R | No |
ClinGen ExAC gnomAD |
|
rs756803089 CA937541 |
387 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA341002305 rs1437138217 |
391 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs775740473 CA937555 |
393 | V>I | No |
ClinGen ExAC gnomAD |
|
CA341002409 rs1297309250 |
400 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs764555959 CA937557 |
400 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373098773 CA937558 |
402 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA937560 rs766948314 |
404 | V>I | No |
ClinGen ExAC |
|
CA341002459 rs1396476418 |
405 | G>S | No |
ClinGen gnomAD |
|
rs750024116 CA937561 |
406 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs755753660 CA937562 |
408 | S>T | No |
ClinGen ExAC gnomAD |
|
CA937563 rs779845851 |
414 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA341002581 rs1453428827 |
415 | Q>* | No |
ClinGen TOPMed |
|
CA937564 rs377562198 |
416 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA341002649 rs1279115011 |
420 | K>R | No |
ClinGen gnomAD |
|
rs754858176 CA937565 |
422 | T>I | No |
ClinGen ExAC gnomAD |
|
CA937566 rs778983224 |
427 | R>K | No |
ClinGen ExAC gnomAD |
|
CA340983079 rs1443383929 |
436 | Y>F | No |
ClinGen gnomAD |
|
rs1185759125 CA340983083 |
437 | W>R | No |
ClinGen gnomAD |
|
rs777820496 CA937593 |
438 | R>C | No |
ClinGen ExAC gnomAD |
|
CA937594 rs745908714 |
438 | R>H | No |
ClinGen ExAC gnomAD |
|
CA340983109 rs1570656013 |
440 | W>* | No |
ClinGen Ensembl |
|
CA340983107 rs1203928414 |
440 | W>* | No |
ClinGen Ensembl |
|
rs769986492 CA937595 |
441 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769986492 CA937596 |
441 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA26511520 rs868792109 |
441 | R>W | No |
ClinGen TOPMed |
|
CA340983147 rs1451645400 |
444 | C>S | No |
ClinGen gnomAD |
|
rs1158212770 CA340983154 |
445 | A>T | No |
ClinGen gnomAD |
|
rs1403134535 CA340983357 |
456 | D>N | No |
ClinGen gnomAD |
|
rs768938701 CA937598 |
458 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1318213165 CA340983554 |
469 | Q>R | No |
ClinGen gnomAD |
|
CA937601 rs772436207 |
471 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1331689756 CA340983586 |
473 | F>L | No |
ClinGen TOPMed |
|
CA340983594 rs1323777614 |
474 | A>T | No |
ClinGen gnomAD |
|
CA937616 rs780109890 |
479 | F>S | No |
ClinGen ExAC gnomAD |
|
rs1280904429 CA340983682 |
483 | I>T | No |
ClinGen gnomAD |
|
rs768885163 CA937618 |
500 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1360331036 CA340985240 |
511 | N>S | No |
ClinGen gnomAD |
|
CA937649 rs762669040 |
512 | I>N | No |
ClinGen ExAC gnomAD |
|
COSM465052 rs775227507 COSM465053 CA937648 |
512 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA340985272 rs1362160424 |
513 | N>D | No |
ClinGen gnomAD |
|
CA26511790 rs777239793 |
520 | L>P | No |
ClinGen Ensembl |
|
CA340985506 rs1570657843 |
522 | R>T | No |
ClinGen Ensembl |
|
CA340985518 rs1291126930 |
523 | R>G | No |
ClinGen gnomAD |
|
CA340985526 rs1166640828 |
523 | R>K | No |
ClinGen TOPMed |
|
CA340985545 rs1317807269 |
523 | R>S | No |
ClinGen gnomAD |
|
rs1218225852 CA340985549 |
524 | A>T | No |
ClinGen gnomAD |
|
CA937650 rs763753464 |
525 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA937652 rs761558099 |
526 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1446341218 CA340985689 |
528 | V>A | No |
ClinGen gnomAD |
|
rs368860135 CA26511795 |
531 | S>Y | No |
ClinGen ESP TOPMed |
|
CA26511797 rs979679980 |
533 | T>S | No |
ClinGen TOPMed |
|
CA340985887 rs1443021169 |
536 | P>A | No |
ClinGen TOPMed |
|
rs1570657965 CA340985895 |
536 | P>H | No |
ClinGen Ensembl |
|
CA26511798 rs921539670 |
538 | A>V | No |
ClinGen TOPMed |
|
CA937657 rs201149414 |
541 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201149414 CA937656 |
541 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758670147 CA937658 |
542 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758670147 CA26511800 |
542 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA937659 rs376245572 |
543 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs747369115 CA937660 |
543 | T>I | No |
ClinGen ExAC gnomAD |
|
CA340986025 rs747369115 |
543 | T>K | No |
ClinGen ExAC gnomAD |
|
rs369266668 CA937661 |
544 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs746393394 CA937663 |
547 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376747132 CA937666 |
548 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA937664 rs373758248 |
548 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA937668 rs768329747 |
550 | R>C | No |
ClinGen ExAC gnomAD |
|
COSM3741419 COSM3741418 rs761591652 CA937669 |
550 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA937667 rs768329747 |
550 | R>S | No |
ClinGen ExAC gnomAD |
|
CA26511815 rs1049801507 |
551 | I>T | No |
ClinGen Ensembl |
|
rs771912831 CA340986207 |
553 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA937671 rs369398098 |
554 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs786906 CA340987308 |
559 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1280246737 CA340987328 |
560 | D>V | No |
ClinGen TOPMed |
|
CA937706 rs779923779 |
562 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA937707 rs770693244 |
564 | T>S | No |
ClinGen ExAC gnomAD |
|
rs776578015 CA937708 |
565 | K>R | No |
ClinGen ExAC gnomAD |
|
CA937709 rs745800453 |
569 | D>H | No |
ClinGen ExAC gnomAD |
|
rs1386410735 CA340987541 |
570 | L>F | No |
ClinGen gnomAD |
|
rs1570658738 CA340987605 |
573 | E>D | No |
ClinGen Ensembl |
|
rs954278016 CA26511972 |
575 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA937712 rs762030874 |
578 | P>L | No |
ClinGen ExAC gnomAD |
|
rs373655576 CA937711 |
578 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs767813616 CA937713 |
579 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1159144376 CA340987713 |
580 | R>* | No |
ClinGen gnomAD |
|
rs377246617 CA937714 |
580 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377246617 CA26511984 COSM912898 |
580 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs761087281 CA937715 |
582 | S>A | No |
ClinGen ExAC gnomAD |
|
CA340987821 rs1261919285 |
586 | E>K | No |
ClinGen gnomAD |
|
CA937716 rs766666908 |
589 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA26511991 rs986931132 |
594 | R>G | No |
ClinGen TOPMed |
|
rs1248004938 CA340988017 COSM1748640 |
594 | R>T | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA26511995 rs911280628 |
600 | G>E | No |
ClinGen TOPMed |
|
CA340988205 rs1267603870 |
602 | D>G | No |
ClinGen TOPMed |
|
CA340988195 rs1486279148 |
602 | D>N | No |
ClinGen TOPMed |
|
CA340988248 rs1267889958 |
605 | T>A | No |
ClinGen gnomAD |
|
CA340988267 rs1461998910 |
606 | V>A | No |
ClinGen gnomAD |
|
rs769594034 CA937727 |
607 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA340988304 rs1241790761 |
609 | I>L | No |
ClinGen gnomAD |
|
CA340988360 rs1325626930 |
612 | D>N | No |
ClinGen TOPMed |
|
rs1211691466 CA340988378 |
613 | R>G | No |
ClinGen gnomAD |
|
CA26512851 rs983007353 |
617 | L>F | No |
ClinGen Ensembl |
|
CA340988456 rs1423339098 |
618 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs772333395 CA937730 |
623 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1156752845 CA340988621 |
624 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA340988602 rs1230801475 |
624 | Y>N | No |
ClinGen TOPMed gnomAD |
|
rs1470066131 CA340988716 |
628 | T>I | No |
ClinGen gnomAD |
|
CA340988698 rs1387655808 |
628 | T>S | No |
ClinGen gnomAD |
|
rs368473517 CA937732 |
629 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
CA937733 rs766724728 |
632 | G>V | No |
ClinGen ExAC gnomAD |
|
CA937734 rs371912104 |
635 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759987617 CA937735 |
638 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA340989725 rs1557625591 |
641 | L>F | No |
ClinGen Ensembl |
|
rs1173659133 CA340989737 |
643 | D>N | No |
ClinGen TOPMed |
|
rs753261243 CA937737 |
644 | R>G | No |
ClinGen ExAC gnomAD |
|
rs757849741 CA937738 |
644 | R>T | No |
ClinGen ExAC gnomAD |
|
rs373058309 CA937763 |
646 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA937764 rs543625646 |
646 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA340989779 rs1427313267 |
647 | Q>H | No |
ClinGen gnomAD |
|
CA26513058 rs1027330042 |
649 | R>M | No |
ClinGen Ensembl |
|
CA340989794 rs1406378056 |
649 | R>S | No |
ClinGen gnomAD |
|
rs12085658 VAR_050564 CA937767 |
655 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA937769 rs373212914 |
656 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA937770 rs376189560 |
657 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA937771 rs781216106 |
658 | R>G | No |
ClinGen ExAC gnomAD |
|
CA937772 rs746109655 |
658 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1292588892 CA340989950 |
658 | R>T | No |
ClinGen gnomAD |
|
rs1272121284 CA340989965 |
659 | C>R | No |
ClinGen TOPMed |
|
CA340989996 rs1219664976 |
660 | C>S | No |
ClinGen gnomAD |
|
rs1265040340 CA340990016 |
660 | C>W | No |
ClinGen gnomAD |
|
CA340990039 rs559447625 |
661 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs770106331 CA937773 |
661 | A>T | No |
ClinGen ExAC gnomAD |
|
rs559447625 CA937774 |
661 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA340990048 rs1247725230 |
662 | V>I | No |
ClinGen TOPMed |
|
rs200476994 CA937783 |
672 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA340990488 rs1161901805 |
676 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs537574477 CA937784 |
677 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1456985864 CA340990515 |
677 | K>R | No |
ClinGen gnomAD |
|
rs527828717 CA937786 |
680 | N>H | No |
ClinGen ExAC gnomAD |
|
CA340990691 rs1253381552 |
682 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs1445959210 CA340990670 |
682 | M>V | No |
ClinGen gnomAD |
|
rs778702394 CA937787 |
684 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752696183 CA937788 |
685 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1286611110 CA340990920 |
687 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1249369191 CA340990988 |
689 | K>R | No |
ClinGen TOPMed |
|
rs1227504888 CA340991034 |
692 | D>E | No |
ClinGen gnomAD |
|
CA340991031 rs1484365654 |
692 | D>G | No |
ClinGen gnomAD |
|
CA937789 rs757217967 |
693 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1207495832 CA340991047 |
695 | A>T | No |
ClinGen gnomAD |
|
CA937792 rs756311106 |
696 | R>P | No |
ClinGen ExAC gnomAD |
|
CA937793 rs756311106 |
696 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1570662411 CA340991076 |
699 | V>G | No |
ClinGen Ensembl |
|
rs371052905 CA937795 |
699 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA26513220 rs902226854 |
700 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA937822 rs770578016 |
703 | M>I | No |
ClinGen ExAC gnomAD |
|
CA937823 rs770578016 |
703 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1570670588 CA340993256 |
707 | R>I | No |
ClinGen Ensembl |
|
CA340993268 rs1271838633 |
708 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs371286273 CA26517064 |
710 | E>G | No |
ClinGen Ensembl |
|
rs1340765745 CA340993331 |
711 | T>A | No |
ClinGen gnomAD |
|
CA340993346 rs1372507976 |
711 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA340993363 rs1222773849 |
712 | V>A | No |
ClinGen gnomAD |
|
rs1450260161 CA340993376 |
713 | N>D | No |
ClinGen gnomAD |
|
rs1198569288 CA340993391 |
713 | N>K | No |
ClinGen gnomAD |
|
rs1333499772 CA340993385 |
713 | N>T | No |
ClinGen gnomAD |
|
CA937826 rs375403448 |
715 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375403448 CA937827 |
715 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557630068 CA340993592 |
723 | L>F | No |
ClinGen Ensembl |
|
rs1165253894 CA340993596 |
723 | L>H | No |
ClinGen gnomAD |
|
CA340993723 rs1424066184 |
729 | T>I | No |
ClinGen TOPMed |
|
CA340993731 rs1474371890 |
730 | K>E | No |
ClinGen TOPMed |
|
rs1322644227 CA340993751 |
731 | E>Q | No |
ClinGen gnomAD |
|
rs1557630135 CA340993871 |
737 | M>I | No |
ClinGen Ensembl |
|
rs754016442 CA937832 |
741 | A>P | No |
ClinGen ExAC gnomAD |
|
rs1285643093 CA340993973 |
742 | G>D | No |
ClinGen gnomAD |
|
CA340993965 rs1246008778 |
742 | G>S | No |
ClinGen gnomAD |
|
CA340994130 rs1444218188 |
751 | T>A | No |
ClinGen TOPMed |
|
CA937838 rs747523531 |
757 | P>R | No |
ClinGen ExAC gnomAD |
|
rs780873749 CA937840 |
760 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1367003563 CA524694719 |
761 | F>K | No |
ClinGen gnomAD |
|
CA937863 rs748894392 |
765 | C>S | No |
ClinGen ExAC gnomAD |
|
CA340996363 rs1375814312 |
766 | V>L | No |
ClinGen gnomAD |
|
rs768396536 CA340996402 |
767 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA937864 rs768396536 |
767 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754877895 CA937865 |
769 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754877895 CA340996434 |
769 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771964322 CA937867 |
776 | H>R | No |
ClinGen ExAC gnomAD |
|
rs773089379 CA937868 |
777 | K>E | No |
ClinGen ExAC gnomAD |
|
rs955947651 CA26523505 |
777 | K>R | No |
ClinGen gnomAD |
|
rs1388838532 CA340996674 |
779 | V>I | No |
ClinGen gnomAD |
|
rs780243341 CA937888 |
784 | K>I | No |
ClinGen ExAC |
|
CA340996993 rs1570688526 |
788 | L>F | No |
ClinGen Ensembl |
|
rs771912894 CA937891 |
789 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1425171956 CA340997050 |
792 | T>A | No |
ClinGen gnomAD |
|
CA26525012 rs373246980 |
797 | K>E | No |
ClinGen Ensembl |
|
rs766955935 CA937904 |
807 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753253980 CA937905 |
809 | G>R | No |
ClinGen ExAC gnomAD |
|
rs754548194 CA937906 |
810 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA340998107 rs1279195169 |
812 | D>G | No |
ClinGen gnomAD |
|
CA340998099 rs1223152007 |
812 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA937907 rs549143118 |
821 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs747812169 CA340998526 |
833 | S>C | No |
ClinGen ExAC gnomAD |
|
CA937908 rs747812169 |
833 | S>F | No |
ClinGen ExAC gnomAD |
|
rs777452279 CA937910 |
837 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369061418 CA937911 |
843 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA937914 rs749368391 |
850 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1389244485 CA341000032 |
860 | D>G | No |
ClinGen gnomAD |
|
rs1268303501 CA341000114 |
864 | E>D | No |
ClinGen gnomAD |
|
rs993285599 CA26529462 |
867 | D>E | No |
ClinGen TOPMed |
|
CA937943 rs529717698 |
872 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA341000290 rs1354714458 |
878 | R>G | No |
ClinGen gnomAD |
|
CA937945 rs760058873 |
882 | T>A | No |
ClinGen ExAC gnomAD |
|
CA937946 rs765783936 |
883 | E>K | No |
ClinGen ExAC gnomAD |
|
CA937947 rs370637742 |
887 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs548272772 CA937948 |
888 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs763668194 CA937966 |
894 | R>G | No |
ClinGen ExAC gnomAD |
|
CA341000554 rs1173805917 |
896 | P>T | No |
ClinGen gnomAD |
|
CA341000591 rs1392961527 |
898 | R>Q | No |
ClinGen TOPMed |
|
CA26529666 rs924904381 COSM426787 |
898 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA937968 rs374663309 |
899 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
CA341000607 rs1308196149 |
899 | R>H | No |
ClinGen gnomAD |
|
rs1172812441 CA341000641 |
902 | A>T | No |
ClinGen TOPMed |
|
rs1352735528 CA341000673 |
903 | S>N | No |
ClinGen gnomAD |
|
CA937970 rs571156003 |
904 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA341000714 rs1332170076 |
905 | K>* | No |
ClinGen gnomAD |
|
rs750215404 CA341000721 |
905 | K>N | No |
ClinGen ExAC gnomAD |
|
CA341000751 rs1301347895 |
907 | A>S | No |
ClinGen gnomAD |
|
CA341000760 rs1391923175 |
907 | A>V | No |
ClinGen TOPMed |
|
rs201403675 CA341000787 |
909 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs201403675 CA937972 |
909 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs370300406 CA26529702 |
910 | V>I | No |
ClinGen ESP gnomAD |
|
CA937973 rs766407679 |
911 | K>R | No |
ClinGen ExAC gnomAD |
|
rs753829610 CA937974 |
912 | K>R | No |
ClinGen ExAC gnomAD |
|
CA26529711 rs867620344 |
913 | H>N | No |
ClinGen Ensembl |
|
CA937975 rs758343619 |
914 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA937977 rs188265897 |
917 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA937976 rs777940241 |
917 | R>W | No |
ClinGen ExAC gnomAD |
|
COSM912907 CA937996 rs765126182 |
923 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs557444302 CA937997 |
923 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1570701203 CA341001210 |
924 | L>V | No |
ClinGen Ensembl |
|
CA341001310 rs1271245559 |
927 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1334071427 CA341001380 |
929 | V>A | No |
ClinGen gnomAD |
|
rs910467616 CA26529865 |
931 | P>A | No |
ClinGen TOPMed |
|
CA341001461 rs1553160536 |
932 | P>S | No |
ClinGen Ensembl |
|
CA937999 rs781331012 |
934 | I>M | No |
ClinGen ExAC gnomAD |
|
CA937998 rs575369896 |
934 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs746091445 CA938000 |
935 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1190349629 CA341001562 |
936 | T>I | No |
ClinGen Ensembl |
|
CA938001 rs543193317 |
937 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA341001609 rs1206823557 |
938 | R>S | No |
ClinGen Ensembl |
|
rs749668259 CA938003 |
939 | G>E | No |
ClinGen ExAC gnomAD |
|
CA938002 rs780486404 |
939 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1417855819 COSM1602755 CA341001632 |
940 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1417855819 CA341001629 |
940 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA938004 rs769178347 |
940 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA938005 rs200518024 |
948 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA938006 rs368185560 |
951 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA341001895 rs1204354896 |
952 | S>L | No |
ClinGen TOPMed |
|
CA341001935 rs1416464537 |
954 | A>T | No |
ClinGen gnomAD |
|
rs772933738 CA938008 |
955 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1289909072 CA341001957 |
956 | I>S | No |
ClinGen TOPMed |
|
CA938009 rs760435988 |
959 | P>L | No |
ClinGen ExAC gnomAD |
|
CA938010 rs770800677 |
960 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1314658560 CA341001981 COSM197959 |
961 | R>* | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA341001982 rs776454578 |
961 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776454578 CA938011 |
961 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1292289982 CA341001996 |
963 | P>L | No |
ClinGen TOPMed |
|
CA938016 rs761812508 |
964 | R>K | No |
ClinGen ExAC gnomAD |
|
rs761812508 CA938015 |
964 | R>T | No |
ClinGen ExAC gnomAD |
|
rs756302912 CA938018 |
965 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750590810 CA938017 |
965 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3806048 rs200905692 CA938019 |
967 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA341002018 rs200905692 |
967 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1400238899 CA341002040 |
970 | E>V | No |
ClinGen gnomAD |
|
rs1360903011 CA341002051 |
972 | E>K | No |
ClinGen gnomAD |
|
CA938023 rs779420119 |
973 | M>I | No |
ClinGen ExAC gnomAD |
|
rs779420119 CA938022 |
973 | M>I | No |
ClinGen ExAC gnomAD |
|
CA341002063 rs1433113248 |
973 | M>T | No |
ClinGen gnomAD |
|
rs1374660522 CA341002074 |
975 | R>G | No |
ClinGen gnomAD |
|
rs771669324 CA938024 |
976 | D>A | No |
ClinGen ExAC gnomAD |
|
rs1281262714 CA341002105 |
979 | Y>H | No |
ClinGen gnomAD |
|
CA341002115 rs1222774819 |
980 | I>T | No |
ClinGen gnomAD |
|
CA938025 rs777447363 |
980 | I>V | No |
ClinGen ExAC gnomAD |
|
rs746556962 CA938026 |
981 | A>T | No |
ClinGen ExAC gnomAD |
|
CA341002125 rs1349340841 |
982 | D>N | No |
ClinGen gnomAD |
|
rs1183089997 CA341002136 |
983 | W>* | No |
ClinGen TOPMed |
|
CA938027 rs184754507 |
983 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA341002141 rs1473696683 |
984 | C>R | No |
ClinGen TOPMed |
No associated diseases with Q16513
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.13 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | PTHR24356 | SERINE/THREONINE-PROTEIN KINASE |
PANTHER Subfamily | PTHR24356:SF322 | SERINE_THREONINE-PROTEIN KINASE N2 |
PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
PANTHER Pathway Category |
Alzheimer disease-amyloid secretase pathway PKC Muscarinic acetylcholine receptor 1 and 3 signaling pathway PKC PDGF signaling pathway PKC |
14 GO annotations of cellular component
Name | Definition |
---|---|
apical junction complex | A functional unit located near the cell apex at the points of contact between epithelial cells, which in vertebrates is composed of the tight junction, the zonula adherens, and desmosomes and in some invertebrates, such as Drosophila, is composed of the subapical complex (SAC), the zonula adherens and the septate junction. Functions in the regulation of cell polarity, tissue integrity and intercellular adhesion and permeability. |
centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
intermediate filament cytoskeleton | Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. |
lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
12 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
calcium-dependent protein kinase C activity | Calcium-dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. |
histone deacetylase binding | Binding to histone deacetylase. |
kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
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. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
RNA binding | Binding to an RNA molecule or a portion thereof. |
RNA polymerase binding | Binding to an RNA polymerase molecule or complex. |
small GTPase binding | Binding to a small monomeric GTPase. |
15 GO annotations of biological process
Name | Definition |
---|---|
apical junction assembly | The formation of an apical junction, a functional unit located near the cell apex at the points of contact between epithelial cells composed of the tight junction, the zonula adherens junction and the desmosomes, by the aggregation, arrangement and bonding together of its constituents. |
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. |
cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
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. |
cell projection organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. |
epithelial cell migration | The orderly movement of an epithelial cell from one site to another, often during the development of a multicellular organism. |
intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
positive regulation of cytokinesis | Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells. |
positive regulation of mitotic cell cycle | Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. |
positive regulation of viral genome replication | Any process that activates or increases the frequency, rate or extent of viral genome replication. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of cell motility | Any process that modulates the frequency, rate or extent of cell motility. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
40 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P24583 | PKC1 | Protein kinase C-like 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
A1A4I4 | PKN1 | Serine/threonine-protein kinase N1 | Bos taurus (Bovine) | SS |
P83099 | Pkcdelta | Putative protein kinase C delta type homolog | Drosophila melanogaster (Fruit fly) | PR |
A1Z7T0 | Pkn | Serine/threonine-protein kinase N | Drosophila melanogaster (Fruit fly) | SS |
Q96LW2 | RSKR | Ribosomal protein S6 kinase-related protein | Homo sapiens (Human) | PR |
O15530 | PDPK1 | 3-phosphoinositide-dependent protein kinase 1 | Homo sapiens (Human) | EV |
Q05513 | PRKCZ | Protein kinase C zeta type | Homo sapiens (Human) | SS |
P41743 | PRKCI | Protein kinase C iota type | Homo sapiens (Human) | EV |
Q16512 | PKN1 | Serine/threonine-protein kinase N1 | Homo sapiens (Human) | EV |
Q6P5Z2 | PKN3 | Serine/threonine-protein kinase N3 | Homo sapiens (Human) | SS |
P24723 | PRKCH | Protein kinase C eta type | Homo sapiens (Human) | SS |
Q02156 | PRKCE | Protein kinase C epsilon type | Homo sapiens (Human) | SS |
Q04759 | PRKCQ | Protein kinase C theta type | Homo sapiens (Human) | PR |
Q05655 | PRKCD | Protein kinase C delta type | Homo sapiens (Human) | SS |
P17252 | PRKCA | Protein kinase C alpha type | Homo sapiens (Human) | EV |
P05129 | PRKCG | Protein kinase C gamma type | Homo sapiens (Human) | SS |
P05771 | PRKCB | Protein kinase C beta type | Homo sapiens (Human) | SS |
P31751 | AKT2 | RAC-beta serine/threonine-protein kinase | Homo sapiens (Human) | EV SS |
P31749 | AKT1 | RAC-alpha serine/threonine-protein kinase | Homo sapiens (Human) | EV |
Q9Y243 | AKT3 | RAC-gamma serine/threonine-protein kinase | Homo sapiens (Human) | SS |
Q96BR1 | SGK3 | Serine/threonine-protein kinase Sgk3 | Homo sapiens (Human) | SS |
Q9HBY8 | SGK2 | Serine/threonine-protein kinase Sgk2 | Homo sapiens (Human) | SS |
O00141 | SGK1 | Serine/threonine-protein kinase Sgk1 | Homo sapiens (Human) | PR |
Q15208 | STK38 | Serine/threonine-protein kinase 38 | Homo sapiens (Human) | EV |
Q9Y2H1 | STK38L | Serine/threonine-protein kinase 38-like | Homo sapiens (Human) | EV |
Q6A1A2 | PDPK2P | Putative 3-phosphoinositide-dependent protein kinase 2 | Homo sapiens (Human) | PR |
P23298 | Prkch | Protein kinase C eta type | Mus musculus (Mouse) | PR |
Q02111 | Prkcq | Protein kinase C theta type | Mus musculus (Mouse) | PR |
P16054 | Prkce | Protein kinase C epsilon type | Mus musculus (Mouse) | PR |
P28867 | Prkcd | Protein kinase C delta type | Mus musculus (Mouse) | PR |
P70268 | Pkn1 | Serine/threonine-protein kinase N1 | Mus musculus (Mouse) | SS |
Q8K045 | Pkn3 | Serine/threonine-protein kinase N3 | Mus musculus (Mouse) | SS |
Q8BWW9 | Pkn2 | Serine/threonine-protein kinase N2 | Mus musculus (Mouse) | SS |
Q63433 | Pkn1 | Serine/threonine-protein kinase N1 | Rattus norvegicus (Rat) | SS |
Q64617 | Prkch | Protein kinase C eta type | Rattus norvegicus (Rat) | PR |
P09216 | Prkce | Protein kinase C epsilon type | Rattus norvegicus (Rat) | PR |
P09215 | Prkcd | Protein kinase C delta type | Rattus norvegicus (Rat) | PR |
O08874 | Pkn2 | Serine/threonine-protein kinase N2 | Rattus norvegicus (Rat) | SS |
P34722 | tpa-1 | Protein kinase C-like 1 | Caenorhabditis elegans | PR |
A7MBL8 | pkn2 | Serine/threonine-protein kinase N2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MASNPERGEI | LLTELQGDSR | SLPFSENVSA | VQKLDFSDTM | VQQKLDDIKD | RIKREIRKEL |
70 | 80 | 90 | 100 | 110 | 120 |
KIKEGAENLR | KVTTDKKSLA | YVDNILKKSN | KKLEELHHKL | QELNAHIVVS | DPEDITDCPR |
130 | 140 | 150 | 160 | 170 | 180 |
TPDTPNNDPR | CSTSNNRLKA | LQKQLDIELK | VKQGAENMIQ | MYSNGSSKDR | KLHGTAQQLL |
190 | 200 | 210 | 220 | 230 | 240 |
QDSKTKIEVI | RMQILQAVQT | NELAFDNAKP | VISPLELRME | ELRHHFRIEF | AVAEGAKNVM |
250 | 260 | 270 | 280 | 290 | 300 |
KLLGSGKVTD | RKALSEAQAR | FNESSQKLDL | LKYSLEQRLN | EVPKNHPKSR | IIIEELSLVA |
310 | 320 | 330 | 340 | 350 | 360 |
ASPTLSPRQS | MISTQNQYST | LSKPAALTGT | LEVRLMGCQD | ILENVPGRSK | ATSVALPGWS |
370 | 380 | 390 | 400 | 410 | 420 |
PSETRSSFMS | RTSKSKSGSS | RNLLKTDDLS | NDVCAVLKLD | NTVVGQTSWK | PISNQSWDQK |
430 | 440 | 450 | 460 | 470 | 480 |
FTLELDRSRE | LEISVYWRDW | RSLCAVKFLR | LEDFLDNQRH | GMCLYLEPQG | TLFAEVTFFN |
490 | 500 | 510 | 520 | 530 | 540 |
PVIERRPKLQ | RQKKIFSKQQ | GKTFLRAPQM | NINIATWGRL | VRRAIPTVNH | SGTFSPQAPV |
550 | 560 | 570 | 580 | 590 | 600 |
PTTVPVVDVR | IPQLAPPASD | STVTKLDFDL | EPEPPPAPPR | ASSLGEIDES | SELRVLDIPG |
610 | 620 | 630 | 640 | 650 | 660 |
QDSETVFDIQ | NDRNSILPKS | QSEYKPDTPQ | SGLEYSGIQE | LEDRRSQQRF | QFNLQDFRCC |
670 | 680 | 690 | 700 | 710 | 720 |
AVLGRGHFGK | VLLAEYKNTN | EMFAIKALKK | GDIVARDEVD | SLMCEKRIFE | TVNSVRHPFL |
730 | 740 | 750 | 760 | 770 | 780 |
VNLFACFQTK | EHVCFVMEYA | AGGDLMMHIH | TDVFSEPRAV | FYAACVVLGL | QYLHEHKIVY |
790 | 800 | 810 | 820 | 830 | 840 |
RDLKLDNLLL | DTEGFVKIAD | FGLCKEGMGY | GDRTSTFCGT | PEFLAPEVLT | ETSYTRAVDW |
850 | 860 | 870 | 880 | 890 | 900 |
WGLGVLIYEM | LVGESPFPGD | DEEEVFDSIV | NDEVRYPRFL | STEAISIMRR | LLRRNPERRL |
910 | 920 | 930 | 940 | 950 | 960 |
GASEKDAEDV | KKHPFFRLID | WSALMDKKVK | PPFIPTIRGR | EDVSNFDDEF | TSEAPILTPP |
970 | 980 | ||||
REPRILSEEE | QEMFRDFDYI | ADWC |