Q14680
Gene name |
MELK (KIAA0175) |
Protein name |
Maternal embryonic leucine zipper kinase |
Names |
hMELK, Protein kinase Eg3, pEg3 kinase, Protein kinase PK38, hPK38, Tyrosine-protein kinase MELK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9833 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
MAP/MICROTUBULE AFFINITY-REGULATING KINASE (PTHR24346) |

Descriptions
Maternal embryonic leucine zipper kinase (hMELK) is a protein Ser/Thr kinase that has been implicated in stem cell renewal, cell cycle progression, and pre-mRNA splicing. The activity of MELK is regulated by a C-terminal KA1 domain as autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
11-263 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment |
Accessory elements
149-173 (Activation loop from InterPro)
Target domain |
11-263 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

32 structures for Q14680
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
4BKY | X-ray | 183 A | A | 2-340 | PDB |
4BKZ | X-ray | 220 A | A | 2-340 | PDB |
4BL1 | X-ray | 260 A | A | 2-340 | PDB |
4D2P | X-ray | 255 A | A/B/C/D | 1-336 | PDB |
4D2T | X-ray | 270 A | A/B/C/D | 1-336 | PDB |
4D2V | X-ray | 245 A | A/B/C/D | 1-336 | PDB |
4D2W | X-ray | 192 A | A/B/C/D | 1-336 | PDB |
4IXP | X-ray | 275 A | A | 1-340 | PDB |
4UMP | X-ray | 230 A | A/B/C/D | 1-336 | PDB |
4UMQ | X-ray | 260 A | A | 1-336 | PDB |
4UMR | X-ray | 300 A | A | 1-336 | PDB |
4UMT | X-ray | 198 A | A | 1-336 | PDB |
4UMU | X-ray | 202 A | A | 1-336 | PDB |
5IH8 | X-ray | 185 A | A | 3-330 | PDB |
5IH9 | X-ray | 179 A | A | 3-330 | PDB |
5IHA | X-ray | 196 A | A | 3-330 | PDB |
5IHC | X-ray | 214 A | A | 3-330 | PDB |
5K00 | X-ray | 177 A | A | 3-330 | PDB |
5M5A | X-ray | 190 A | A | 2-340 | PDB |
5MAF | X-ray | 280 A | A | 2-340 | PDB |
5MAG | X-ray | 235 A | A | 2-340 | PDB |
5MAH | X-ray | 200 A | A | 2-340 | PDB |
5MAI | X-ray | 215 A | A | 2-340 | PDB |
5TVT | X-ray | 228 A | A | 2-333 | PDB |
5TWL | X-ray | 242 A | A | 2-340 | PDB |
5TWU | X-ray | 260 A | A/B | 1-340 | PDB |
5TWY | X-ray | 291 A | A/B | 2-340 | PDB |
5TWZ | X-ray | 263 A | A | 2-340 | PDB |
5TX3 | X-ray | 290 A | A/B | 1-340 | PDB |
6GVX | X-ray | 224 A | A/B | 1-340 | PDB |
6VXR | X-ray | 210 A | A | 1-338 | PDB |
AF-Q14680-F1 | Predicted | AlphaFoldDB |
492 variants for Q14680
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1564118296 CA373435635 |
3 | D>Y | No |
ClinGen Ensembl |
|
rs762250293 CA5057356 |
11 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA5057357 rs371313222 |
12 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373435731 rs1157461127 |
14 | H>R | No |
ClinGen gnomAD |
|
CA5057359 rs763351882 |
17 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1273998661 CA373435771 |
19 | T>A | No |
ClinGen gnomAD |
|
rs776843063 CA373435794 |
20 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776843063 CA5057377 |
20 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1227315194 CA373435796 |
21 | G>S | No |
ClinGen TOPMed |
|
CA373435831 rs1587320233 |
26 | K>E | No |
ClinGen Ensembl |
|
RCV000960045 CA5057378 rs114617403 |
26 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5057379 rs770248208 |
28 | A>P | No |
ClinGen ExAC gnomAD |
|
CA5057381 rs763553481 |
29 | C>S | No |
ClinGen ExAC gnomAD |
|
rs763553481 CA373435851 |
29 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs767018563 CA373435864 |
31 | I>F | No |
ClinGen ExAC gnomAD |
|
CA5057384 rs760270294 |
31 | I>M | No |
ClinGen ExAC |
|
rs774943512 CA373435866 |
31 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774943512 CA5057383 |
31 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767018563 CA5057382 |
31 | I>V | No |
ClinGen ExAC gnomAD |
|
rs763697533 CA5057385 |
32 | L>F | No |
ClinGen ExAC gnomAD |
|
rs753584662 CA5057386 |
34 | G>R | No |
ClinGen ExAC gnomAD |
|
rs13440297 CA192873606 |
35 | E>* | No |
ClinGen Ensembl |
|
rs199697478 CA5057388 |
36 | M>I | No |
ClinGen 1000Genomes ExAC |
|
rs953917183 CA192873608 |
36 | M>L | No |
ClinGen TOPMed gnomAD |
|
CA5057387 rs540286432 |
36 | M>R | No |
ClinGen 1000Genomes ExAC |
|
CA5057390 rs758161923 |
37 | V>A | No |
ClinGen ExAC gnomAD |
|
rs750218598 CA5057389 |
37 | V>L | No |
ClinGen ExAC gnomAD |
|
CA192873626 rs755001911 |
39 | I>V | No |
ClinGen Ensembl |
|
CA5057392 rs779979550 |
41 | I>M | No |
ClinGen ExAC gnomAD |
|
rs1356602897 CA373435938 |
43 | D>G | No |
ClinGen TOPMed |
|
rs746880889 CA373435935 |
43 | D>N | No |
ClinGen ExAC gnomAD |
|
CA5057393 rs746880889 |
43 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA5057394 rs755117441 |
45 | N>K | No |
ClinGen ExAC gnomAD |
|
CA192873655 rs966272252 |
47 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs530956522 CA5057412 |
49 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs751551349 CA5057413 |
51 | L>S | No |
ClinGen ExAC gnomAD |
|
CA5057415 rs781286890 |
52 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781286890 CA5057417 |
52 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781286890 CA5057416 |
52 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754883604 CA5057414 |
52 | P>S | No |
ClinGen ExAC gnomAD |
|
CA5057419 rs749522568 |
53 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs544701960 CA5057418 |
53 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs35233455 VAR_040794 CA5057422 |
56 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1322505698 CA373436461 |
60 | A>V | No |
ClinGen TOPMed |
|
CA373436466 rs1317643805 |
61 | L>S | No |
ClinGen gnomAD |
|
rs200697039 CA192875587 |
63 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200697039 CA5057425 |
63 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5057424 rs746421630 |
63 | N>S | No |
ClinGen ExAC gnomAD |
|
CA5057428 rs769278274 |
64 | L>P | No |
ClinGen ExAC gnomAD |
|
rs761241091 CA5057427 |
64 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057430 rs772803585 |
68 | H>D | No |
ClinGen ExAC gnomAD |
|
rs1587346929 CA373436512 |
68 | H>R | No |
ClinGen Ensembl |
|
CA5057431 rs762576629 |
69 | I>L | No |
ClinGen ExAC gnomAD |
|
CA373436532 rs1259420854 |
71 | Q>* | No |
ClinGen gnomAD |
|
CA192875612 rs575137753 |
74 | H>R | No |
ClinGen Ensembl |
|
CA5057434 rs147513197 |
75 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751324243 CA5057433 |
75 | V>M | No |
ClinGen ExAC gnomAD |
|
CA5057436 rs752614797 |
77 | E>* | No |
ClinGen ExAC gnomAD |
|
rs115531852 CA5057437 |
78 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA192875628 rs1000485883 |
83 | F>L | No |
ClinGen gnomAD |
|
CA5057438 rs777895527 |
84 | M>L | No |
ClinGen ExAC gnomAD |
|
CA373436702 rs777895527 |
84 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1416147604 CA373436714 |
85 | V>I | No |
ClinGen gnomAD |
|
CA373437392 rs1441995840 |
93 | E>K | No |
ClinGen gnomAD |
|
rs1255817156 CA373437448 |
97 | Y>C | No |
ClinGen TOPMed |
|
rs1232092185 CA373437440 |
97 | Y>H | No |
ClinGen gnomAD |
|
CA192877250 rs370732572 |
98 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
CA5057455 rs764124417 |
98 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5057456 rs754005792 |
101 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373437523 rs1435853016 COSM327854 |
103 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA5057457 rs757367254 COSM1108932 |
103 | R>H | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs963263698 CA192877260 |
106 | E>K | No |
ClinGen Ensembl |
|
CA5057458 rs765573002 |
107 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1393986319 CA373437610 |
110 | R>L | No |
ClinGen gnomAD |
|
rs1393986319 CA373437613 |
110 | R>Q | No |
ClinGen gnomAD |
|
rs150500682 CA5057459 |
110 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758752489 CA5057460 |
111 | V>A | No |
ClinGen ExAC gnomAD |
|
CA373437625 rs1169260004 |
112 | V>I | No |
ClinGen gnomAD |
|
rs1408541660 CA373437641 |
113 | F>S | No |
ClinGen TOPMed |
|
CA5057461 rs780449748 |
114 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370963407 CA5057462 |
114 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1326999891 CA373437676 |
116 | I>V | No |
ClinGen gnomAD |
|
rs1397234133 CA373437724 |
120 | V>I | No |
ClinGen TOPMed |
|
CA373437738 rs1169745297 |
121 | A>T | No |
ClinGen TOPMed |
|
CA373437753 rs1397250292 |
122 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs781634266 CA5057464 |
123 | V>M | No |
ClinGen ExAC gnomAD |
|
CA5057466 rs770367929 |
125 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373437808 rs1587363978 |
126 | Q>R | No |
ClinGen Ensembl |
|
rs1268638331 CA373437821 |
127 | G>V | No |
ClinGen gnomAD |
|
CA5057467 rs774059266 |
130 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA373437880 rs1587364041 |
132 | D>A | No |
ClinGen Ensembl |
|
rs745507803 CA5057468 |
132 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057469 rs771813183 |
133 | L>H | No |
ClinGen ExAC gnomAD |
|
rs1274436447 CA373437900 |
134 | K>E | No |
ClinGen TOPMed |
|
rs768271265 CA5057493 |
137 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192878267 rs1002724071 |
138 | L>M | No |
ClinGen TOPMed |
|
CA373438629 rs1409151511 COSM186681 |
139 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA192878270 rs1008019121 |
140 | F>S | No |
ClinGen TOPMed gnomAD |
|
rs1412624185 CA373438672 |
142 | E>V | No |
ClinGen gnomAD |
|
rs1317392900 CA373438688 |
143 | Y>C | No |
ClinGen gnomAD |
|
rs770039323 CA5057497 |
144 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs762901190 CA5057499 |
145 | K>N | No |
ClinGen ExAC gnomAD |
|
rs773390114 CA5057498 |
145 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs766645313 CA5057501 |
147 | K>M | No |
ClinGen ExAC gnomAD |
|
rs1035556541 CA192878302 |
149 | I>L | No |
ClinGen Ensembl |
|
rs1330685481 CA373438766 |
150 | D>H | No |
ClinGen TOPMed |
|
rs767856840 CA5057504 |
154 | C>S | No |
ClinGen ExAC gnomAD |
|
CA192878314 rs1019102992 |
155 | A>T | No |
ClinGen TOPMed |
|
rs961060342 CA192878319 |
156 | K>N | No |
ClinGen Ensembl |
|
rs547460338 CA5057525 |
159 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA192879071 rs199834356 |
160 | N>D | No |
ClinGen gnomAD |
|
CA5057527 rs754234154 |
160 | N>K | No |
ClinGen ExAC gnomAD |
|
CA5057529 rs779414890 |
161 | K>N | No |
ClinGen ExAC |
|
CA5057528 rs757996498 |
161 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751271828 CA5057530 |
162 | D>E | No |
ClinGen ExAC |
|
rs887126454 CA192879081 |
162 | D>N | No |
ClinGen Ensembl |
|
CA373439050 rs1406688806 |
165 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs1381224766 CA373439056 |
166 | Q>* | No |
ClinGen TOPMed |
|
rs1587382570 CA373439091 |
171 | S>G | No |
ClinGen Ensembl |
|
rs1587382588 CA373439097 |
171 | S>R | No |
ClinGen Ensembl |
|
rs780947778 CA5057532 |
172 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1454635644 CA373439112 |
174 | Y>C | No |
ClinGen gnomAD |
|
rs542804397 CA192879119 |
175 | A>T | No |
ClinGen Ensembl |
|
CA192879121 rs1017019441 |
176 | A>T | No |
ClinGen Ensembl |
|
CA5057534 rs769654094 |
177 | P>S | No |
ClinGen ExAC gnomAD |
|
CA5057535 rs149686898 |
178 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
CA5057536 rs570619247 |
178 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5057537 rs771092591 |
180 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs115586289 CA373439150 |
181 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs115586289 CA192879134 |
181 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs115586289 CA5057539 |
181 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5057540 rs772303710 |
183 | K>N | No |
ClinGen ExAC gnomAD |
|
rs199880240 CA192881935 |
191 | D>H | No |
ClinGen 1000Genomes TOPMed |
|
CA373439532 rs374075415 |
193 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5057561 rs374075415 |
193 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs772076783 CA5057560 |
193 | W>G | No |
ClinGen ExAC gnomAD |
|
CA5057562 rs146709588 |
195 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146709588 CA373439548 |
195 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373439544 rs1411456516 |
195 | M>V | No |
ClinGen gnomAD |
|
rs769110780 CA5057563 |
196 | G>V | No |
ClinGen ExAC gnomAD |
|
CA373439556 rs1376320612 |
197 | I>L | No |
ClinGen TOPMed gnomAD |
|
rs1376320612 CA373439555 |
197 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA5057565 rs762194617 |
198 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA373439568 rs1297185065 |
199 | L>S | No |
ClinGen gnomAD |
|
COSM1497058 rs1220796077 CA373439574 |
200 | Y>H | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA192881968 rs369063583 |
203 | M>T | No |
ClinGen ESP |
|
rs765681502 CA5057566 |
203 | M>V | No |
ClinGen ExAC gnomAD |
|
CA373439613 rs1416948918 |
205 | G>E | No |
ClinGen gnomAD |
|
rs773796566 CA5057567 |
209 | F>C | No |
ClinGen ExAC gnomAD |
|
CA373439660 rs1356216039 |
212 | D>G | No |
ClinGen gnomAD |
|
rs1224801421 CA373439677 |
214 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1315191230 CA373439688 |
216 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1315191230 CA373439687 |
216 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA192881976 rs1013525650 |
218 | Y>* | No |
ClinGen Ensembl |
|
CA373439708 rs1216065000 |
219 | K>E | No |
ClinGen gnomAD |
|
CA373439707 rs1216065000 |
219 | K>Q | No |
ClinGen gnomAD |
|
CA5057569 rs35142210 VAR_040795 |
219 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5057583 rs748471471 |
227 | D>H | No |
ClinGen ExAC gnomAD |
|
CA373436035 rs1391272623 |
230 | K>* | No |
ClinGen TOPMed |
|
CA192878284 rs1049660735 |
230 | K>R | No |
ClinGen gnomAD |
|
rs770129579 CA5057584 |
231 | W>* | No |
ClinGen ExAC TOPMed |
|
CA5057585 rs770129579 |
231 | W>C | No |
ClinGen ExAC TOPMed |
|
CA373436040 rs1371576447 |
231 | W>G | No |
ClinGen TOPMed |
|
CA5057586 rs763538947 |
232 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373436057 rs1365177589 |
233 | S>F | No |
ClinGen TOPMed |
|
rs775172480 CA5057589 |
234 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1410813175 CA373436064 |
235 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs376164595 CA5057592 |
236 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376164595 CA5057591 |
236 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1468499533 CA373436103 |
241 | Q>* | No |
ClinGen gnomAD |
|
rs1362089488 CA373436110 |
242 | Q>E | No |
ClinGen TOPMed |
|
rs1274480816 CA373436123 |
243 | M>I | No |
ClinGen gnomAD |
|
rs1274480816 CA373436124 |
243 | M>I | No |
ClinGen gnomAD |
|
rs112003774 CA192878363 |
243 | M>T | No |
ClinGen Ensembl |
|
rs1340340647 CA373436132 |
245 | Q>* | No |
ClinGen gnomAD |
|
CA5057595 rs750413067 |
245 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA373436153 rs1461466085 |
246 | V>G | No |
ClinGen TOPMed |
|
rs751443564 CA5057618 |
246 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373436150 rs751443564 |
246 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767622049 CA5057620 |
247 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA373436175 COSM167557 rs1420590272 |
249 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1163232021 CA373436182 |
250 | K>N | No |
ClinGen gnomAD |
|
rs549358592 CA5057621 |
250 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA373436184 rs1384057506 |
251 | R>Q | No |
ClinGen gnomAD |
|
CA5057622 rs758392144 |
251 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192880331 rs1047692436 |
252 | I>N | No |
ClinGen gnomAD |
|
CA5057624 rs201211316 |
253 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146486300 CA5057625 |
254 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1249045304 CA373436245 |
260 | H>R | No |
ClinGen TOPMed |
|
rs1045775545 CA192880377 |
260 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA5057626 rs779634205 |
261 | P>L | No |
ClinGen ExAC gnomAD |
|
rs746375465 CA5057627 |
262 | W>C | No |
ClinGen ExAC |
|
CA373436267 rs1350748600 |
263 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs768103782 CA5057628 |
263 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5057629 rs776178978 |
264 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1364583583 CA373436269 |
264 | M>V | No |
ClinGen gnomAD |
|
rs557988412 CA5057630 RCV000930724 |
265 | Q>* | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1207174245 CA373436281 |
265 | Q>H | No |
ClinGen TOPMed |
|
rs1189044826 CA373436313 |
268 | N>K | No |
ClinGen gnomAD |
|
rs769455465 CA5057631 |
268 | N>S | No |
ClinGen ExAC gnomAD |
|
CA5057632 rs772791136 |
270 | P>T | No |
ClinGen ExAC |
|
rs934766353 CA192880415 |
275 | S>N | No |
ClinGen TOPMed |
|
CA5057635 rs766156695 |
276 | K>E | No |
ClinGen ExAC gnomAD |
|
CA5057636 rs774211922 |
276 | K>N | No |
ClinGen ExAC gnomAD |
|
rs759495589 CA5057637 |
277 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1271799778 CA373436447 |
278 | P>R | No |
ClinGen gnomAD |
|
rs746406905 CA373438158 |
279 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746406905 CA5057649 |
279 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1251804149 CA373438174 |
280 | I>F | No |
ClinGen gnomAD |
|
rs780373461 CA5057652 |
282 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1420463762 CA373438225 |
283 | D>E | No |
ClinGen TOPMed |
|
CA5057654 rs769224721 |
283 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1319501930 CA373438240 |
284 | D>E | No |
ClinGen gnomAD |
|
rs1405264657 CA373438236 |
284 | D>G | No |
ClinGen gnomAD |
|
rs772912540 CA5057655 |
284 | D>N | No |
ClinGen ExAC gnomAD |
|
CA5057656 rs748924633 |
285 | D>G | No |
ClinGen ExAC gnomAD |
|
CA373438263 rs1382258226 |
286 | C>Y | No |
ClinGen TOPMed |
|
COSM3722513 RCV000902511 CA5057658 rs374744271 |
287 | V>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
CA5057659 rs759203954 |
289 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373438316 rs1329287322 |
290 | L>V | No |
ClinGen gnomAD |
|
rs1234471786 CA373438328 |
291 | S>P | No |
ClinGen gnomAD |
|
rs775697597 CA192888137 |
292 | V>I | No |
ClinGen Ensembl |
|
CA5057661 rs775226736 |
294 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA5057663 rs764260106 |
296 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs547127565 CA5057664 |
299 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1344977542 CA373438465 |
301 | M>T | No |
ClinGen TOPMed |
|
rs1197275603 CA373438473 |
302 | E>K | No |
ClinGen gnomAD |
|
rs761052927 CA373438534 |
306 | S>* | No |
ClinGen gnomAD |
|
rs761052927 CA192888169 |
306 | S>L | No |
ClinGen gnomAD |
|
CA192888187 rs903607623 |
307 | L>V | No |
ClinGen TOPMed |
|
CA5057681 rs768899369 |
308 | W>* | No |
ClinGen ExAC gnomAD |
|
CA5057682 rs776886956 |
309 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373439257 rs1587570988 |
312 | H>P | No |
ClinGen Ensembl |
|
CA5057684 rs116620621 |
314 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs116620621 CA5057685 |
314 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5057687 rs766636533 |
315 | A>D | No |
ClinGen ExAC gnomAD |
|
CA373439287 rs1321196120 |
317 | Y>* | No |
ClinGen TOPMed gnomAD |
|
rs755444724 CA5057689 |
317 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057690 rs781634477 |
318 | L>P | No |
ClinGen ExAC gnomAD |
|
CA373439317 rs1487445346 |
323 | K>E | No |
ClinGen gnomAD |
|
CA5057692 rs756655630 |
325 | A>S | No |
ClinGen ExAC gnomAD |
|
CA5057694 rs148081976 |
326 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146185715 CA5057695 |
326 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148081976 CA5057693 |
326 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779966054 CA5057696 |
327 | G>E | No |
ClinGen ExAC gnomAD |
|
CA192892890 rs140963190 |
331 | R>C | No |
ClinGen ESP gnomAD |
|
CA192892888 rs140963190 |
331 | R>G | No |
ClinGen ESP gnomAD |
|
CA5057697 rs146537035 |
331 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs34655121 CA5057698 VAR_040796 RCV000956716 |
333 | R>K | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1251352244 CA373439382 |
334 | L>F | No |
ClinGen TOPMed |
|
CA5057700 rs761984042 |
336 | S>F | No |
ClinGen ExAC gnomAD |
|
CA373439403 rs1360097388 |
337 | F>L | No |
ClinGen gnomAD |
|
CA373439409 rs1450719235 |
338 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs1450719235 CA373439410 |
338 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA373439417 rs773538066 |
339 | C>* | No |
ClinGen ExAC gnomAD |
|
rs773538066 CA5057702 |
339 | C>W | No |
ClinGen ExAC gnomAD |
|
rs763062811 CA5057703 |
340 | G>E | No |
ClinGen ExAC gnomAD |
|
rs766804647 CA5057704 |
341 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774729093 CA5057705 |
341 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1216141019 CA373439436 |
343 | S>G | No |
ClinGen gnomAD |
|
rs1281378877 CA373439447 |
344 | A>G | No |
ClinGen gnomAD |
|
CA373439454 rs1211975447 |
345 | T>I | No |
ClinGen gnomAD |
|
CA373439470 rs1472438544 |
348 | T>A | No |
ClinGen gnomAD |
|
CA5057706 VAR_040797 RCV000965104 rs55845414 |
348 | T>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs369940373 CA5057709 |
351 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs369940373 CA373439492 |
351 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5057728 rs764624849 |
353 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs147502395 CA5057729 |
354 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138281295 CA5057731 |
354 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373439767 rs147502395 |
354 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1333012659 CA373439775 |
355 | W>* | No |
ClinGen gnomAD |
|
CA373439782 rs1434544239 |
356 | S>N | No |
ClinGen gnomAD |
|
rs543114583 CA5057732 |
357 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057733 rs754874504 |
357 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373439802 rs1587590993 |
359 | D>V | No |
ClinGen Ensembl |
|
CA5057734 rs781109217 |
360 | V>M | No |
ClinGen ExAC gnomAD |
|
rs377133091 CA5057737 |
362 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373439824 rs1474519897 |
363 | S>N | No |
ClinGen TOPMed |
|
CA373439825 rs1474519897 |
363 | S>T | No |
ClinGen TOPMed |
|
CA373439850 rs1587591180 |
366 | N>K | No |
ClinGen Ensembl |
|
rs749341508 CA5057738 |
366 | N>S | No |
ClinGen ExAC gnomAD |
|
CA373439848 rs749341508 |
366 | N>T | No |
ClinGen ExAC gnomAD |
|
CA5057739 rs370552987 COSM3699683 |
369 | A>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs370552987 CA5057740 COSM1462379 |
369 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA5057742 rs144405877 |
370 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775750782 CA5057743 |
373 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057746 rs761054743 |
374 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1587591363 CA373439920 |
377 | C>G | No |
ClinGen Ensembl |
|
rs1164383231 CA373439947 |
380 | D>G | No |
ClinGen gnomAD |
|
rs559946050 CA192895847 |
380 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs777133008 CA5057748 |
381 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192895862 rs964712181 |
383 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs765970263 CA5057750 |
383 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373439993 rs1226570789 |
388 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA5057752 rs759231335 |
389 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057753 rs147684393 |
389 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA373440001 rs1290514305 |
390 | T>A | No |
ClinGen gnomAD |
|
rs1432334695 CA373440004 |
390 | T>I | No |
ClinGen TOPMed |
|
rs1173589599 CA373440019 |
392 | Q>H | No |
ClinGen TOPMed |
|
CA373440046 rs1157072746 |
394 | T>I | No |
ClinGen gnomAD |
|
CA373440043 rs1441682935 |
394 | T>S | No |
ClinGen gnomAD |
|
CA373440048 rs1379918110 |
395 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA373440052 rs1452717393 |
395 | K>R | No |
ClinGen gnomAD |
|
CA5057783 rs778775531 |
397 | W>* | No |
ClinGen ExAC gnomAD |
|
rs757220131 CA5057782 |
397 | W>L | No |
ClinGen ExAC gnomAD |
|
rs753760464 CA5057781 |
397 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057784 rs750518953 |
398 | T>P | No |
ClinGen ExAC |
|
RCV000999169 rs1587616430 |
399 | E>missing | No |
ClinVar dbSNP |
|
CA192901409 rs867907627 |
400 | S>L | No |
ClinGen Ensembl |
|
CA5057786 rs780212191 |
400 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747238174 CA5057787 |
402 | G>E | No |
ClinGen ExAC gnomAD |
|
CA373440116 rs1315989678 |
405 | S>Y | No |
ClinGen gnomAD |
|
CA373440130 rs1258099925 |
407 | S>* | No |
ClinGen gnomAD |
|
rs748481989 CA5057790 |
408 | L>S | No |
ClinGen ExAC gnomAD |
|
CA192901430 rs776639034 |
411 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA192901441 rs931549512 |
419 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs745374927 CA373440224 |
421 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1350732774 CA373440244 |
424 | E>* | No |
ClinGen TOPMed |
|
rs775055106 CA5057795 |
424 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1327848862 CA373440249 |
425 | N>H | No |
ClinGen TOPMed |
|
CA5057797 rs548729347 |
426 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA373440260 rs548729347 |
426 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs760345453 CA5057796 |
426 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1198076957 CA373440268 |
427 | Y>* | No |
ClinGen gnomAD |
|
CA373440280 rs1303323281 |
429 | P>L | No |
ClinGen TOPMed |
|
CA192901502 rs954971762 |
432 | A>T | No |
ClinGen gnomAD |
|
CA5057800 rs765168138 |
433 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750360100 CA5057801 |
434 | K>R | No |
ClinGen ExAC gnomAD |
|
rs374730094 CA5057803 |
436 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5057804 rs139147189 |
437 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373440352 rs1587617096 |
440 | M>V | No |
ClinGen Ensembl |
|
CA5057807 rs533788949 |
445 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5057809 rs756479355 |
453 | H>N | No |
ClinGen ExAC gnomAD |
|
rs1488877953 CA373440456 |
454 | K>R | No |
ClinGen gnomAD |
|
CA373440474 rs1265618449 |
456 | E>D | No |
ClinGen gnomAD |
|
CA373440467 rs1193124922 |
456 | E>K | No |
ClinGen gnomAD |
|
rs778490625 CA5057811 |
459 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778490625 CA373440492 |
459 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144052967 VAR_040798 CA5057812 COSM20677 |
460 | T>M | an ovarian mucinous carcinoma sample; somatic mutation kidney ovary [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
rs1168295776 CA373440498 |
461 | P>T | No |
ClinGen gnomAD |
|
rs775097745 CA5057814 |
462 | N>D | No |
ClinGen ExAC gnomAD |
|
CA5057815 rs554033223 |
463 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1294849935 CA373440513 |
463 | R>H | No |
ClinGen gnomAD |
|
rs1028670606 CA192901646 |
464 | Y>* | No |
ClinGen TOPMed |
|
rs1169751874 CA373440531 |
466 | T>A | No |
ClinGen Ensembl |
|
rs776202476 CA5057817 |
466 | T>I | No |
ClinGen ExAC gnomAD |
|
CA373440539 rs1329308756 |
467 | P>L | No |
ClinGen TOPMed |
|
CA373440587 rs1587629432 |
472 | N>K | No |
ClinGen Ensembl |
|
rs756604222 CA5057830 |
473 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs756604222 CA5057831 |
473 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs150974354 CA192905115 |
474 | C>F | No |
ClinGen ESP TOPMed gnomAD |
|
rs749628951 CA5057832 |
475 | L>P | No |
ClinGen ExAC |
|
CA192905130 rs878996483 |
477 | E>V | No |
ClinGen Ensembl |
|
rs779228039 CA5057834 |
480 | I>F | No |
ClinGen ExAC gnomAD |
|
rs779228039 CA373440634 |
480 | I>V | No |
ClinGen ExAC gnomAD |
|
CA373440640 rs1292832950 |
481 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs1380548557 CA373440653 |
482 | I>M | No |
ClinGen gnomAD |
|
CA373440648 rs1288732518 |
482 | I>V | No |
ClinGen gnomAD |
|
rs1230062691 CA373440655 |
483 | P>T | No |
ClinGen gnomAD |
|
CA192905208 rs972040202 |
485 | N>S | No |
ClinGen TOPMed |
|
rs780877310 CA5057839 |
487 | T>A | No |
ClinGen ExAC gnomAD |
|
CA373440683 rs1288503990 |
487 | T>I | No |
ClinGen gnomAD |
|
rs1313765283 CA373440688 |
488 | G>A | No |
ClinGen TOPMed |
|
rs959603695 CA192905245 |
489 | T>P | No |
ClinGen Ensembl |
|
rs1414498282 CA373440702 |
490 | D>E | No |
ClinGen TOPMed |
|
CA373440717 rs145670187 |
492 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA373440711 rs1300515345 |
492 | L>I | No |
ClinGen TOPMed |
|
rs773025164 CA5057842 |
493 | M>I | No |
ClinGen ExAC gnomAD |
|
CA5057843 rs762610218 |
495 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762610218 CA373440732 |
495 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373440751 rs1369812218 |
498 | S>G | No |
ClinGen TOPMed |
|
CA373440756 rs774091322 |
498 | S>R | No |
ClinGen ExAC gnomAD |
|
CA5057845 rs774091322 |
498 | S>R | No |
ClinGen ExAC gnomAD |
|
CA373440769 rs1165218838 |
500 | E>D | No |
ClinGen TOPMed |
|
CA373440770 rs1165218838 |
500 | E>D | No |
ClinGen TOPMed |
|
CA373440773 rs1336971450 |
501 | R>K | No |
ClinGen gnomAD |
|
rs951939924 CA5057849 |
502 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs148905986 CA5057847 |
502 | R>W | No |
ClinGen ESP TOPMed |
|
CA5057862 rs200746617 COSM186702 |
504 | R>C | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs769461815 CA5057863 |
504 | R>H | No |
ClinGen ExAC gnomAD |
|
CA373440800 rs200746617 |
504 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1426295174 CA373440814 |
506 | V>A | No |
ClinGen gnomAD |
|
rs2068826 CA192906857 |
507 | E>* | No |
ClinGen gnomAD |
|
CA5057864 rs777350999 |
507 | E>A | No |
ClinGen ExAC gnomAD |
|
rs2068826 CA373440816 |
507 | E>K | No |
ClinGen gnomAD |
|
CA373440831 rs1205367675 |
509 | D>A | No |
ClinGen TOPMed |
|
CA5057866 rs770629729 |
509 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1333477296 CA373440844 |
511 | N>Y | No |
ClinGen gnomAD |
|
CA373440859 rs1234945625 |
513 | A>P | No |
ClinGen TOPMed |
|
rs375073240 CA192906892 |
515 | M>T | No |
ClinGen gnomAD |
|
rs772094570 CA5057869 |
519 | P>S | No |
ClinGen ExAC gnomAD |
|
CA192906913 rs779630366 |
520 | K>N | No |
ClinGen TOPMed |
|
rs1261115725 CA373440918 |
521 | R>I | No |
ClinGen gnomAD |
|
CA5057870 rs202227041 |
523 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057871 rs760777461 |
524 | A>G | No |
ClinGen ExAC gnomAD |
|
rs753998985 CA5057873 |
529 | S>C | No |
ClinGen ExAC gnomAD |
|
rs762292893 CA5057874 |
530 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1400337198 CA373440989 |
532 | R>K | No |
ClinGen TOPMed |
|
CA5057876 rs750982765 |
533 | G>E | No |
ClinGen ExAC gnomAD |
|
rs765492864 CA5057875 |
533 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750982765 CA5057877 |
533 | G>V | No |
ClinGen ExAC gnomAD |
|
CA373441009 rs559265487 |
535 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs752218840 CA5057879 |
535 | D>N | No |
ClinGen ExAC gnomAD |
|
rs777550738 CA5057881 |
537 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748880215 CA5057882 |
538 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373441025 rs1406492602 |
538 | I>V | No |
ClinGen TOPMed gnomAD |
|
RCV000972797 CA5057883 rs62637654 |
540 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA373441036 rs1357607497 |
540 | V>M | No |
ClinGen gnomAD |
|
CA5057885 rs745626982 |
541 | L>P | No |
ClinGen ExAC gnomAD |
|
rs772147603 CA5057886 |
542 | T>S | No |
ClinGen ExAC |
|
CA192907070 rs950944093 |
545 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA5057889 rs147882939 |
545 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5057888 rs147882939 |
545 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5057890 rs776957298 |
547 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1478388216 CA373441088 |
548 | G>D | No |
ClinGen gnomAD |
|
rs765463389 CA5057892 |
549 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057893 rs141614983 |
550 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA192907121 rs868229295 |
550 | A>V | No |
ClinGen Ensembl |
|
CA5057894 rs574362937 |
551 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs766879169 CA5057895 |
551 | R>K | No |
ClinGen ExAC gnomAD |
|
rs115242044 CA192907148 |
552 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs370307671 CA5057898 |
553 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5057897 rs370307671 |
553 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1364726683 CA373441118 |
554 | P>S | No |
ClinGen gnomAD |
|
CA192907156 rs921796646 |
556 | R>T | No |
ClinGen Ensembl |
|
CA373441454 rs1201522619 |
559 | L>F | No |
ClinGen gnomAD |
|
CA373441459 rs1337939441 |
559 | L>P | No |
ClinGen TOPMed |
|
CA192910080 rs947774243 |
561 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA192910086 rs906033420 |
563 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs753300807 CA5057918 |
564 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373441530 rs1587645230 |
564 | T>I | No |
ClinGen Ensembl |
|
rs1421068911 CA373441537 |
565 | T>A | No |
ClinGen gnomAD |
|
CA373441551 rs1361833915 |
566 | T>N | No |
ClinGen gnomAD |
|
rs1173026495 CA373441589 |
569 | V>G | No |
ClinGen gnomAD |
|
rs764863651 CA5057920 |
569 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1408234242 CA373441617 |
571 | P>L | No |
ClinGen gnomAD |
|
rs1335535593 CA373441633 |
572 | D>E | No |
ClinGen gnomAD |
|
CA5057921 rs750084683 |
572 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758314348 CA373441642 |
573 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057922 rs758314348 |
573 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057924 rs751356487 |
575 | L>F | No |
ClinGen ExAC |
|
CA587801480 rs1564239335 |
576 | N>D | No |
ClinGen Ensembl |
|
CA5057925 rs754898159 |
576 | N>D | No |
ClinGen ExAC gnomAD |
|
rs781130506 CA5057926 |
577 | E>* | No |
ClinGen ExAC gnomAD |
|
rs897387671 CA373441722 |
578 | I>M | No |
ClinGen gnomAD |
|
CA5057928 rs748183359 |
578 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057929 rs117713820 |
581 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141986091 CA5057930 |
583 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs952851652 CA192910200 |
584 | K>R | No |
ClinGen Ensembl |
|
CA192910205 rs1001633150 |
585 | K>N | No |
ClinGen TOPMed |
|
rs1564239437 CA373441798 |
586 | H>D | No |
ClinGen Ensembl |
|
rs749491516 CA5057931 |
590 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199547857 CA5057933 |
591 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150268458 CA192910219 |
592 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA192910228 rs766786487 |
593 | G>S | No |
ClinGen Ensembl |
|
rs756200115 CA5057947 |
595 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1289908106 CA373441888 |
597 | K>N | No |
ClinGen gnomAD |
|
CA373441890 rs1402379156 |
598 | C>R | No |
ClinGen TOPMed |
|
rs997128159 CA192911995 |
599 | Q>* | No |
ClinGen TOPMed |
|
rs1212844520 CA373441920 |
602 | S>A | No |
ClinGen gnomAD |
|
CA5057951 rs749328178 |
602 | S>L | No |
ClinGen ExAC gnomAD |
|
rs779040914 CA5057953 |
603 | D>E | No |
ClinGen ExAC gnomAD |
|
CA5057952 rs771154763 |
603 | D>N | No |
ClinGen ExAC gnomAD |
|
CA373441933 rs1481302828 |
604 | F>S | No |
ClinGen TOPMed gnomAD |
|
rs1289953901 CA373441958 |
608 | T>A | No |
ClinGen gnomAD |
|
rs539841275 CA5057954 |
609 | M>I | No |
ClinGen ExAC gnomAD |
|
CA373441972 rs1421664244 |
610 | Q>* | No |
ClinGen TOPMed |
|
CA5057955 rs772468153 |
610 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs775907942 CA373442013 |
615 | V>A | No |
ClinGen ExAC gnomAD |
|
rs775907942 CA5057956 |
615 | V>G | No |
ClinGen ExAC gnomAD |
|
rs200440363 CA192912048 |
616 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761210411 CA5057957 |
616 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1444783320 CA373442025 |
617 | Q>H | No |
ClinGen gnomAD |
|
CA192912058 rs751020991 |
617 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs762498744 CA5057960 |
620 | K>N | No |
ClinGen ExAC gnomAD |
|
CA373442050 rs1424372582 |
621 | P>S | No |
ClinGen gnomAD |
|
CA5057962 rs751254508 |
622 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1288856837 CA373442129 |
626 | I>S | No |
ClinGen gnomAD |
|
rs1259248372 CA373442120 |
626 | I>V | No |
ClinGen TOPMed |
|
rs767323630 CA5057965 |
629 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA5057967 rs557719031 |
630 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752618361 CA5057966 |
630 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5057969 rs544001717 |
634 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs757324107 CA5057971 |
636 | W>* | No |
ClinGen ExAC gnomAD |
|
CA192912215 rs1027998064 |
639 | K>E | No |
ClinGen TOPMed |
|
CA192912218 rs955254978 |
639 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs779162176 CA5057972 |
644 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs113044021 CA192912255 |
649 | C>G | No |
ClinGen ESP |
|
CA192912253 rs113044021 |
649 | C>R | No |
ClinGen ESP |
|
CA192912274 rs1005897614 |
649 | C>W | No |
ClinGen Ensembl |
|
rs758725930 CA5057974 |
649 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA5057976 rs138922465 |
651 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
1 associated diseases with Q14680
Without disease ID
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | PTHR24346 | MAP/MICROTUBULE AFFINITY-REGULATING KINASE |
PANTHER Subfamily | PTHR24346:SF30 | MATERNAL EMBRYONIC LEUCINE ZIPPER KINASE |
PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
PANTHER Pathway Category | No pathway information available |
3 GO annotations of cellular component
Name | Definition |
---|---|
cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
calcium ion binding | Binding to a calcium ion (Ca2+). |
lipid binding | Binding to a lipid. |
non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein. |
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. |
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. |
cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
G2/M transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex. |
hemopoiesis | The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
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. |
intrinsic apoptotic signaling pathway in response to oxidative stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, and ends when the execution phase of apoptosis is triggered. |
neural precursor cell proliferation | The multiplication or reproduction of neural precursor cells, resulting in the expansion of a cell population. A neural precursor cell is either a nervous system stem cell or a nervous system progenitor cell. |
positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
69 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q02066 | Abscisic acid-inducible protein kinase | Triticum aestivum (Wheat) | PR | |
Q5GLH2 | TRIB2 | Tribbles homolog 2 | Bos taurus (Bovine) | SS |
Q0VCE3 | TRIB3 | Tribbles homolog 3 | Bos taurus (Bovine) | SS |
Q3SZW1 | TSSK1B | Testis-specific serine/threonine-protein kinase 1 | Bos taurus (Bovine) | PR |
Q92519 | TRIB2 | Tribbles homolog 2 | Homo sapiens (Human) | SS |
Q96RU7 | TRIB3 | Tribbles homolog 3 | Homo sapiens (Human) | PR |
Q96RU8 | TRIB1 | Tribbles homolog 1 | Homo sapiens (Human) | EV |
Q15831 | STK11 | Serine/threonine-protein kinase STK11 | Homo sapiens (Human) | PR |
Q96RG2 | PASK | PAS domain-containing serine/threonine-protein kinase | Homo sapiens (Human) | EV |
O14757 | CHEK1 | Serine/threonine-protein kinase Chk1 | Homo sapiens (Human) | EV |
Q8IWQ3 | BRSK2 | Serine/threonine-protein kinase BRSK2 | Homo sapiens (Human) | PR |
Q8TDC3 | BRSK1 | Serine/threonine-protein kinase BRSK1 | Homo sapiens (Human) | SS |
P57059 | SIK1 | Serine/threonine-protein kinase SIK1 | Homo sapiens (Human) | PR |
Q9NRH2 | SNRK | SNF-related serine/threonine-protein kinase | Homo sapiens (Human) | SS |
Q9BXA7 | TSSK1B | Testis-specific serine/threonine-protein kinase 1 | Homo sapiens (Human) | PR |
O60285 | NUAK1 | NUAK family SNF1-like kinase 1 | Homo sapiens (Human) | PR |
Q13131 | PRKAA1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Homo sapiens (Human) | EV |
P54646 | PRKAA2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Homo sapiens (Human) | EV |
Q8K4K3 | Trib2 | Tribbles homolog 2 | Mus musculus (Mouse) | SS |
Q61241 | Tssk1b | Testis-specific serine/threonine-protein kinase 1 | Mus musculus (Mouse) | PR |
Q8K4K2 | Trib3 | Tribbles homolog 3 | Mus musculus (Mouse) | SS |
O54863 | Tssk2 | Testis-specific serine/threonine-protein kinase 2 | Mus musculus (Mouse) | PR |
Q8K4K4 | Trib1 | Tribbles homolog 1 | Mus musculus (Mouse) | SS |
Q5EG47 | Prkaa1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Mus musculus (Mouse) | SS |
Q8BRK8 | Prkaa2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Mus musculus (Mouse) | SS |
Q61846 | Melk | Maternal embryonic leucine zipper kinase | Mus musculus (Mouse) | PR |
Q28948 | PRKAA2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Sus scrofa (Pig) | SS |
Q9WTQ6 | Trib3 | Tribbles homolog 3 | Rattus norvegicus (Rat) | SS |
P54645 | Prkaa1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Rattus norvegicus (Rat) | EV |
Q09137 | Prkaa2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Rattus norvegicus (Rat) | EV |
Q5QNM6 | CIPK13 | Putative CBL-interacting protein kinase 13 | Oryza sativa subsp japonica (Rice) | PR |
Q5JLQ9 | CIPK30 | CBL-interacting protein kinase 30 | Oryza sativa subsp japonica (Rice) | PR |
Q5N942 | SAPK4 | Serine/threonine-protein kinase SAPK4 | Oryza sativa subsp japonica (Rice) | PR |
Q852Q0 | OSK3 | Serine/threonine protein kinase OSK3 | Oryza sativa subsp. japonica (Rice) | SS |
Q75LR7 | SAPK1 | Serine/threonine-protein kinase SAPK1 | Oryza sativa subsp japonica (Rice) | PR |
Q75H77 | SAPK10 | Serine/threonine-protein kinase SAPK10 | Oryza sativa subsp japonica (Rice) | PR |
Q7Y0B9 | SAPK8 | Serine/threonine-protein kinase SAPK8 | Oryza sativa subsp japonica (Rice) | PR |
Q7XQP4 | SAPK7 | Serine/threonine-protein kinase SAPK7 | Oryza sativa subsp japonica (Rice) | PR |
Q852Q2 | OSK1 | Serine/threonine protein kinase OSK1 | Oryza sativa subsp. japonica (Rice) | SS |
Q6ZLP5 | CIPK23 | CBL-interacting protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
Q0D4J7 | SAPK2 | Serine/threonine-protein kinase SAPK2 | Oryza sativa subsp japonica (Rice) | PR |
Q8LIG4 | CIPK3 | CBL-interacting protein kinase 3 | Oryza sativa subsp japonica (Rice) | PR |
Q852Q1 | OSK4 | Serine/threonine protein kinase OSK4 | Oryza sativa subsp. japonica (Rice) | SS |
Q6ERS4 | CIPK16 | CBL-interacting protein kinase 16 | Oryza sativa subsp japonica (Rice) | PR |
P0C5D6 | SAPK3 | Serine/threonine-protein kinase SAPK3 | Oryza sativa subsp japonica (Rice) | PR |
Q2RAX3 | CIPK33 | CBL-interacting protein kinase 33 | Oryza sativa subsp japonica (Rice) | PR |
Q75V57 | SAPK9 | Serine/threonine-protein kinase SAPK9 | Oryza sativa subsp japonica (Rice) | PR |
Q21017 | kin-29 | Serine/threonine-protein kinase kin-29 | Caenorhabditis elegans | SS |
P45894 | aak-1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Caenorhabditis elegans | SS |
Q95ZQ4 | aak-2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Caenorhabditis elegans | SS |
P43291 | SRK2A | Serine/threonine-protein kinase SRK2A | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q93VD3 | CIPK23 | CBL-interacting serine/threonine-protein kinase 23 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9C958 | SRK2B | Serine/threonine-protein kinase SRK2B | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9M9E9 | SRK2C | Serine/threonine-protein kinase SRK2C | Arabidopsis thaliana (Mouse-ear cress) | PR |
O64812 | SRK2J | Serine/threonine-protein kinase SRK2J | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q2V452 | CIPK3 | CBL-interacting serine/threonine-protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
O22971 | CIPK13 | CBL-interacting serine/threonine-protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q38997 | KIN10 | SNF1-related protein kinase catalytic subunit alpha KIN10 | Arabidopsis thaliana (Mouse-ear cress) | SS |
P92958 | KIN11 | SNF1-related protein kinase catalytic subunit alpha KIN11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q39192 | SRK2D | Serine/threonine-protein kinase SRK2D | Arabidopsis thaliana (Mouse-ear cress) | PR |
O65554 | CIPK6 | CBL-interacting serine/threonine-protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q940H6 | SRK2E | Serine/threonine-protein kinase SRK2E | Arabidopsis thaliana (Mouse-ear cress) | PR |
P43292 | SRK2G | Serine/threonine-protein kinase SRK2G | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LDI3 | CIPK24 | CBL-interacting serine/threonine-protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FJ54 | CIPK20 | CBL-interacting serine/threonine-protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q94CG0 | CIPK21 | CBL-interacting serine/threonine-protein kinase 21 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FFP9 | SRK2H | Serine/threonine-protein kinase SRK2H | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q39193 | SRK2I | Serine/threonine-protein kinase SRK2I | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FLZ3 | KIN12 | SNF1-related protein kinase catalytic subunit alpha KIN12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MKDYDELLKY | YELHETIGTG | GFAKVKLACH | ILTGEMVAIK | IMDKNTLGSD | LPRIKTEIEA |
70 | 80 | 90 | 100 | 110 | 120 |
LKNLRHQHIC | QLYHVLETAN | KIFMVLEYCP | GGELFDYIIS | QDRLSEEETR | VVFRQIVSAV |
130 | 140 | 150 | 160 | 170 | 180 |
AYVHSQGYAH | RDLKPENLLF | DEYHKLKLID | FGLCAKPKGN | KDYHLQTCCG | SLAYAAPELI |
190 | 200 | 210 | 220 | 230 | 240 |
QGKSYLGSEA | DVWSMGILLY | VLMCGFLPFD | DDNVMALYKK | IMRGKYDVPK | WLSPSSILLL |
250 | 260 | 270 | 280 | 290 | 300 |
QQMLQVDPKK | RISMKNLLNH | PWIMQDYNYP | VEWQSKNPFI | HLDDDCVTEL | SVHHRNNRQT |
310 | 320 | 330 | 340 | 350 | 360 |
MEDLISLWQY | DHLTATYLLL | LAKKARGKPV | RLRLSSFSCG | QASATPFTDI | KSNNWSLEDV |
370 | 380 | 390 | 400 | 410 | 420 |
TASDKNYVAG | LIDYDWCEDD | LSTGAATPRT | SQFTKYWTES | NGVESKSLTP | ALCRTPANKL |
430 | 440 | 450 | 460 | 470 | 480 |
KNKENVYTPK | SAVKNEEYFM | FPEPKTPVNK | NQHKREILTT | PNRYTTPSKA | RNQCLKETPI |
490 | 500 | 510 | 520 | 530 | 540 |
KIPVNSTGTD | KLMTGVISPE | RRCRSVELDL | NQAHMEETPK | RKGAKVFGSL | ERGLDKVITV |
550 | 560 | 570 | 580 | 590 | 600 |
LTRSKRKGSA | RDGPRRLKLH | YNVTTTRLVN | PDQLLNEIMS | ILPKKHVDFV | QKGYTLKCQT |
610 | 620 | 630 | 640 | 650 | |
QSDFGKVTMQ | FELEVCQLQK | PDVVGIRRQR | LKGDAWVYKR | LVEDILSSCK | V |