Q7KZI7
SS
Gene name |
MARK2 (EMK1) |
Protein name |
Serine/threonine-protein kinase MARK2 |
Names |
EC 2.7.11.1 , EC 2.7.11.26 , ELKL motif kinase 1 , EMK-1 , MAP/microtubule affinity-regulating kinase 2 , PAR1 homolog , PAR1 homolog b , Par-1b , Par1b |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2011 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
MARK1 is a Ser/Thr protein kinase involved in various cellular processes. It is part of the CAMK-like kinase family and has roles in diseases like Alzheimer’s and cancer. The kinase’s autoinhibition is mediated by its C-terminal KA1 domain, which interacts with the kinase domain to prevent substrate binding and activation. The KA1 domain binds to the αD-helix, blocking the peptide substrate binding site and inhibiting the kinase. This autoinhibition is alleviated by the binding of anionic phospholipid membranes to the KA1 domain, which reverses MARK1 autoinhibition and stimulates kinase activity.
Autoinhibitory domains (AIDs)
Target domain |
53-304 (Protein kinase domain) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
192-214 (Activation loop from InterPro)
Target domain |
53-304 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
404 variants for Q7KZI7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA381034040 rs1445547030 |
6 | T>I | No |
ClinGen TOPMed |
|
|
CA381034033 rs1590945919 |
6 | T>P | No |
ClinGen Ensembl |
|
|
CA381034063 rs1353752849 |
9 | P>A | No |
ClinGen TOPMed |
|
|
rs1400261438 CA381034069 |
9 | P>L | No |
ClinGen gnomAD |
|
|
CA381034083 rs1395653554 |
11 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6065220 rs529371529 CA381034097 |
12 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1379537077 CA381034112 |
14 | R>K | No |
ClinGen gnomAD |
|
|
rs1565087747 CA381034120 |
15 | D>N | No |
ClinGen Ensembl |
|
|
CA381034174 rs1309105541 |
17 | E>D | No |
ClinGen gnomAD |
|
|
CA381034181 rs1352379758 |
18 | Q>E | No |
ClinGen gnomAD |
|
|
CA223800923 rs751154646 |
20 | T>I | No |
ClinGen TOPMed |
|
|
rs1050929076 CA223800947 |
22 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381044479 rs1246150634 |
23 | H>R | No |
ClinGen TOPMed |
|
|
rs1304282965 CA381044501 |
26 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1304282965 CA381044502 |
26 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1208478703 CA381044514 |
28 | P>L | No |
ClinGen TOPMed |
|
|
rs780529224 CA381044512 |
28 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6065325 rs780529224 |
28 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381044531 rs1233551529 |
30 | S>R | No |
ClinGen gnomAD |
|
|
CA6065326 rs749972779 |
32 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs911955113 CA223800952 |
33 | N>K | No |
ClinGen gnomAD |
|
|
rs1302966306 CA381044553 |
34 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6065328 rs779959531 |
36 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6065327 COSM1355579 rs755618580 |
36 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565133435 CA381044572 |
37 | G>C | No |
ClinGen Ensembl |
|
| TCGA novel | 37 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943455648 CA223800965 |
38 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6065329 rs749281261 |
38 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381044594 rs1433800381 |
40 | S>L | No |
ClinGen gnomAD |
|
|
CA6065330 rs768381834 |
42 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA381044612 rs1270241022 |
44 | A>T | No |
ClinGen TOPMed |
|
|
CA223801033 rs893834000 |
47 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469468542 CA381044648 |
49 | H>Y | No |
ClinGen gnomAD |
|
|
CA6065333 rs373015711 |
50 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs141830377 CA6065332 |
50 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760780052 CA6065335 |
52 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924286394 CA223801075 |
55 | L>I | No |
ClinGen TOPMed |
|
|
CA381044728 rs1343319522 |
61 | K>R | No |
ClinGen gnomAD |
|
|
rs1590665842 CA381044760 |
66 | K>Q | No |
ClinGen Ensembl |
|
|
rs866451148 CA223801078 |
70 | A>V | No |
ClinGen Ensembl |
|
|
rs868032104 CA223801094 |
71 | R>* | No |
ClinGen Ensembl |
|
|
CA6065337 rs777269235 |
71 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381044815 rs1202389003 |
74 | L>P | No |
ClinGen gnomAD |
|
|
rs1449043730 CA381044914 |
87 | T>S | No |
ClinGen gnomAD |
|
|
rs1411876910 CA381044942 |
91 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 93 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751422215 CA6065396 |
99 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 101 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6065399 rs781534420 |
106 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6065398 rs781534420 |
106 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6065401 rs780001701 |
112 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6065418 rs779459837 |
120 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs753836487 CA6065419 |
124 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381045665 rs1394829882 |
125 | L>F | No |
ClinGen TOPMed |
|
|
rs1246749865 CA381045673 |
126 | Y>C | No |
ClinGen gnomAD |
|
|
CA381045687 rs1168209651 |
128 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 132 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381045725 rs1481250883 |
133 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6065435 rs773162629 |
145 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA381045992 rs1225368156 |
153 | R>P | No |
ClinGen gnomAD |
|
|
CA381045988 COSM689775 rs1225368156 |
153 | R>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6065439 COSM1704187 rs571160900 COSM1704188 |
157 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
rs1163051177 CA381046122 |
159 | I>L | No |
ClinGen gnomAD |
|
|
rs1452364750 CA381046135 |
160 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA223804498 rs879130652 |
161 | S>C | No |
ClinGen Ensembl |
|
|
CA223804501 rs62621187 |
162 | A>P | No |
ClinGen Ensembl |
|
|
CA381046169 rs1455591524 |
163 | V>L | No |
ClinGen gnomAD |
|
|
CA381046275 rs1221325228 |
170 | F>L | No |
ClinGen gnomAD |
|
|
rs1468450094 CA381046289 |
171 | I>L | No |
ClinGen TOPMed |
|
|
CA6065459 rs776661467 |
173 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA381046589 rs1334844776 |
189 | I>V | No |
ClinGen gnomAD |
|
|
rs1321077319 CA381046640 |
192 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001261929 rs1940729976 |
194 | F>S | No |
ClinVar dbSNP |
|
|
rs149589768 CA6065474 |
201 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381047017 rs1480921733 |
224 | K>N | No |
ClinGen gnomAD |
|
|
CA6065476 rs770568484 |
224 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 227 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6065478 rs759709414 |
230 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1476842866 CA381047076 |
233 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 238 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381047245 rs1222619572 |
255 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6065504 rs751037676 |
261 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 271 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 272 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 285 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6065508 rs758102754 |
286 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 292 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6065510 rs751059089 |
294 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1029890877 CA223805832 |
295 | L>S | No |
ClinGen TOPMed |
|
|
rs1234113859 CA381047568 |
298 | I>M | No |
ClinGen gnomAD |
|
|
RCV001261928 rs1468332923 |
302 | R>* | No |
ClinVar dbSNP |
|
|
rs1468332923 CA381047594 |
302 | R>G | No |
ClinGen gnomAD |
|
|
CA6065531 rs199684279 |
302 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 305 | N>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381047624 rs1174210431 |
306 | V>M | No |
ClinGen gnomAD |
|
|
rs11602989 CA223806011 |
308 | H>P | No |
ClinGen Ensembl |
|
|
CA6065535 rs749047419 |
309 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6065537 CA381047655 rs779182082 |
310 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6065536 rs754792009 |
310 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381047654 rs754792009 |
310 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748330502 CA6065538 |
314 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs200346312 CA6065540 |
317 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200346312 CA223806066 |
317 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381047702 rs1162274339 |
318 | E>K | No |
ClinGen gnomAD |
|
|
CA381047762 rs1431407981 |
326 | P>S | No |
ClinGen gnomAD |
|
|
rs774000976 COSM467185 CA6065546 |
327 | R>Q | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA223806110 rs141719382 |
327 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146234903 CA6065548 |
328 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6065547 COSM1214577 rs761380187 |
328 | R>W | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 330 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381047815 rs1240336749 |
333 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6065562 rs373352515 |
333 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6065563 rs373352515 |
333 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1280204246 CA381047822 |
335 | M>L | No |
ClinGen gnomAD |
|
|
rs763420975 CA6065564 |
336 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381047837 rs1166069686 |
337 | Y>H | No |
ClinGen TOPMed |
|
|
CA381047856 rs1425998930 |
339 | R>P | No |
ClinGen TOPMed |
|
|
CA381047854 rs1425998930 |
339 | R>Q | No |
ClinGen TOPMed |
|
|
rs1442512176 CA381047850 |
339 | R>W | No |
ClinGen gnomAD |
|
|
COSM1355585 CA381047888 rs1565141230 |
341 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs760161018 CA6065567 |
344 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA223806318 rs925141179 |
344 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs747377755 CA223806339 |
345 | S>L | No |
ClinGen Ensembl |
|
|
CA6065568 rs765886989 |
347 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053622043 CA223806386 |
352 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 352 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316651720 CA381048075 |
355 | M>V | No |
ClinGen gnomAD |
|
|
CA6065570 rs759420903 |
359 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA381048141 rs1565141351 |
360 | L>F | No |
ClinGen Ensembl |
|
|
rs778137287 CA6065574 |
367 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1381501762 CA381048385 |
369 | E>* | No |
ClinGen TOPMed |
|
|
COSM1355587 CA381048402 rs1264871686 |
370 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs750435333 CA6065595 |
371 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959293953 CA223807409 |
373 | I>V | No |
ClinGen TOPMed |
|
|
RCV000660627 rs1554985733 |
374 | T>missing | No |
ClinVar dbSNP |
|
|
rs768100969 CA223807422 |
374 | T>I | No |
ClinGen TOPMed |
|
|
CA381048513 rs1391135472 |
376 | K>N | No |
ClinGen gnomAD |
|
|
CA381048523 rs1436054649 |
377 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381048520 rs1436054649 |
377 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6065599 rs755268600 |
378 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6065598 rs749806060 |
378 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA223807441 rs991071775 |
380 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 382 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370536502 CA6065600 |
382 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6065601 rs373691600 |
383 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367599531 CA6065602 |
384 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381048668 rs142621278 |
385 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142621278 CA6065603 |
385 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs973521004 CA223807481 |
388 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6065606 rs1057177 |
389 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA223807484 rs1057177 |
389 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6065605 rs769404912 |
389 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA223807493 rs1057178 |
390 | S>F | No |
ClinGen Ensembl |
|
|
CA6065608 rs763945514 |
391 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1181705836 CA381048804 |
392 | S>C | No |
ClinGen TOPMed |
|
|
rs761752661 CA6065610 |
395 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1452634071 CA381048875 |
397 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs767626610 CA6065611 COSM193907 |
397 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756086174 CA381048902 |
399 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756086174 CA6065613 |
399 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381048918 rs1265697640 |
400 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6065614 rs139460524 |
400 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779443825 CA6065617 |
407 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1046557497 CA223807525 |
407 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6065618 rs779282714 |
410 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA381049074 rs1369603109 |
411 | Q>H | No |
ClinGen gnomAD |
|
|
rs1262859201 CA381049833 |
413 | A>T | No |
ClinGen gnomAD |
|
|
rs911859239 CA223807793 |
413 | A>V | No |
ClinGen Ensembl |
|
|
CA223807795 rs1135236 |
416 | A>P | No |
ClinGen Ensembl |
|
|
rs765730772 CA6065634 |
419 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879040051 CA223807800 |
421 | N>S | No |
ClinGen Ensembl |
|
|
CA6065635 rs753263040 |
428 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6065637 rs538928060 |
432 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM929966 rs538928060 CA6065636 |
432 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6065638 rs750008299 |
433 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1427633822 CA381050121 |
434 | N>I | No |
ClinGen Ensembl |
|
|
COSM1475694 rs368859674 CA6065640 |
436 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755818402 CA6065639 |
436 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1554986038 CA381050153 |
437 | P>T | No |
ClinGen Ensembl |
|
|
CA223807838 rs1039321713 |
439 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6065642 rs768337367 |
441 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1319760535 CA381050218 |
441 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1454695173 CA381050248 |
443 | S>A | No |
ClinGen gnomAD |
|
|
CA381050274 rs1309620304 |
445 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs771721301 CA6065645 |
445 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6065646 rs773081608 |
449 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA381050339 rs1388922462 |
450 | T>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 451 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463028202 CA381050394 |
454 | P>A | No |
ClinGen gnomAD |
|
|
rs1463028202 CA381050393 |
454 | P>T | No |
ClinGen gnomAD |
|
|
CA6065652 rs140950433 |
460 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6065651 rs140950433 |
460 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6065653 rs763549764 |
461 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA223807917 rs111953017 |
462 | E>G | No |
ClinGen Ensembl |
|
|
rs371964980 CA6065655 |
466 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590696582 CA381050556 |
466 | T>P | No |
ClinGen Ensembl |
|
|
CA6065656 rs371964980 |
466 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381050571 rs1429956845 |
467 | T>P | No |
ClinGen gnomAD |
|
|
CA381050566 rs1429956845 |
467 | T>S | No |
ClinGen gnomAD |
|
|
CA381050602 rs1280887280 |
468 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 469 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416098744 CA381050621 |
469 | T>N | No |
ClinGen gnomAD |
|
|
rs1590696673 CA381050609 |
469 | T>P | No |
ClinGen Ensembl |
|
|
CA6065657 rs779836944 |
470 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381050646 rs1443210087 |
471 | S>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 471 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381050644 rs1443210087 |
471 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1310040297 CA381050666 |
472 | T>M | No |
ClinGen gnomAD |
|
|
rs376300912 CA6065681 |
475 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746934578 CA6065683 |
479 | S>I | No |
ClinGen ExAC |
|
| TCGA novel | 481 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370799027 CA6065684 |
481 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6065685 rs780996265 |
481 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs370799027 CA381050927 |
481 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381050937 rs1388342422 |
482 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1472964266 CA381050942 |
482 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6065688 rs775619753 |
491 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs775619753 CA381051144 |
491 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381051131 COSM929967 rs1382894889 |
491 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs749385715 CA6065689 |
492 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs762439455 CA6065692 |
493 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA381051176 rs762439455 |
493 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA381051207 rs1405213197 |
495 | G>V | No |
ClinGen TOPMed |
|
|
CA381051219 rs1164240745 |
496 | Q>H | No |
ClinGen gnomAD |
|
|
rs1190881580 CA381051259 |
499 | I>V | No |
ClinGen Ensembl |
|
|
rs1168321836 CA381051361 |
504 | D>G | No |
ClinGen TOPMed |
|
|
rs750421602 CA6065723 |
507 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381051597 rs1473746605 |
509 | P>S | No |
ClinGen gnomAD |
|
|
rs376530913 CA223808642 |
512 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs184840760 CA6065726 |
512 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6065725 rs184840760 |
512 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376530913 CA6065724 |
512 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779235042 CA6065728 |
515 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370703635 CA6065729 |
516 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772335796 CA6065730 |
519 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6065731 rs778366082 |
520 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6065734 rs771286708 |
521 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771286708 CA6065733 |
521 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181613762 CA381051780 |
521 | A>V | No |
ClinGen gnomAD |
|
|
CA6065735 rs759996073 |
522 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6065736 rs373710920 |
524 | A>V | Variant assessed as Somatic; 6.995e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1251527248 CA381051847 |
526 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs767030713 CA6065739 |
526 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223808714 rs972173237 |
528 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6065741 rs559643101 |
528 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464148812 CA381051998 |
534 | M>T | No |
ClinGen gnomAD |
|
|
CA381052022 rs1171451343 |
535 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1456716739 CA381052037 |
536 | A>V | No |
ClinGen gnomAD |
|
|
CA6065744 rs754868438 |
538 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 539 | H>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6065746 rs752981478 |
541 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 541 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6065747 rs199756433 |
543 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381052194 rs1175632891 |
545 | G>A | No |
ClinGen TOPMed |
|
|
rs778030790 CA6065748 |
547 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1274374458 CA381052233 |
548 | P>L | No |
ClinGen gnomAD |
|
|
CA223808774 rs189266858 |
548 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
| rs1275438822 | 549 | T>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223808779 rs1031387538 |
549 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 551 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771320993 CA6065750 |
553 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA381052324 rs1433110686 |
553 | C>R | No |
ClinGen gnomAD |
|
|
rs1390199266 CA381052355 |
554 | E>G | No |
ClinGen gnomAD |
|
|
CA381052380 rs1464872713 |
555 | V>G | No |
ClinGen TOPMed |
|
|
rs781744203 CA6065751 |
556 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3687454 rs1255701916 COSM3687455 CA381052406 |
557 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1369739299 CA381052403 |
557 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381052422 rs1590702388 |
558 | P>L | No |
ClinGen Ensembl |
|
|
CA381034188 rs1565147580 |
562 | P>L | No |
ClinGen Ensembl |
|
|
CA381034208 rs1380241955 |
563 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 563 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 563 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6065766 rs369307518 |
564 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751564327 CA6065767 |
564 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1275603290 CA381034245 |
567 | V>D | No |
ClinGen TOPMed |
|
|
rs905450803 CA381034240 |
567 | V>I | No |
ClinGen Ensembl |
|
|
rs905450803 CA223755460 |
567 | V>L | No |
ClinGen Ensembl |
|
|
COSM1214573 CA381034283 rs1565147660 |
570 | P>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs746404079 CA6065771 |
572 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6065770 rs746404079 |
572 | A>T | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA223755464 rs200262332 |
573 | H>Y | No |
ClinGen 1000Genomes |
|
| TCGA novel | 574 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381034367 rs1206350852 |
575 | I>S | No |
ClinGen gnomAD |
|
|
rs372403951 CA6065772 |
575 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749697940 CA6065773 |
576 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs772912610 CA6065775 |
579 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs770487182 CA6065777 |
579 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6065776 rs772912610 |
579 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770487182 CA381034430 |
579 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1414179596 CA381034459 |
581 | A>G | No |
ClinGen gnomAD |
|
|
CA6065778 rs776365456 |
581 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1455565582 COSM929968 CA381034465 |
582 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1565147836 CA381034515 |
586 | N>D | No |
ClinGen Ensembl |
|
|
rs1381919971 CA381034522 |
586 | N>K | No |
ClinGen TOPMed |
|
|
CA381034533 rs1590704974 |
587 | F>S | No |
ClinGen Ensembl |
|
|
rs759548844 CA6065779 |
588 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6065780 rs779245115 |
592 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378689760 CA381034615 |
593 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 595 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 598 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565147923 CA381034706 |
599 | A>S | No |
ClinGen Ensembl |
|
|
rs1290590293 CA381035652 |
601 | Q>H | No |
ClinGen gnomAD |
|
|
rs764409621 CA6065783 |
602 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA381035671 rs1228256247 |
603 | R>Q | No |
ClinGen gnomAD |
|
|
CA6065784 rs375090604 |
604 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1370861751 CA381035722 |
606 | R>Q | No |
ClinGen TOPMed |
|
|
COSM3791747 COSM3791748 rs757230106 CA6065785 |
606 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs767644540 CA6065786 |
611 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235423987 CA381035849 |
613 | Y>H | No |
ClinGen gnomAD |
|
|
rs199753298 CA6065788 |
614 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6065790 rs147921716 |
615 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147921716 CA6065789 |
615 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755391537 CA6065791 |
616 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs773647747 CA223755550 |
618 | A>T | No |
ClinGen gnomAD |
|
|
CA381036024 rs1416294196 |
625 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs199966079 CA223755553 |
627 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA223755552 rs185974234 |
627 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6065795 rs780776931 |
628 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381036065 rs1310250516 |
629 | G>R | No |
ClinGen gnomAD |
|
|
rs1222355322 CA381036076 |
630 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 630 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274048907 CA381036072 |
630 | A>P | No |
ClinGen TOPMed |
|
|
rs965132278 CA223755560 |
633 | S>G | No |
ClinGen gnomAD |
|
|
rs151049341 CA6065797 |
633 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6065800 rs768588454 |
638 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA381036229 rs1205349253 |
640 | S>C | No |
ClinGen gnomAD |
|
|
CA381036226 rs1288349278 |
640 | S>P | No |
ClinGen TOPMed |
|
|
CA381036242 rs1228189342 |
641 | K>R | No |
ClinGen TOPMed |
|
|
rs767677810 CA6065803 |
644 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6065804 rs750480856 |
644 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA223755582 rs920892088 |
645 | R>K | No |
ClinGen Ensembl |
|
|
CA381036446 rs1344818697 |
649 | F>C | No |
ClinGen TOPMed |
|
|
CA381036455 rs1465362947 |
650 | R>K | No |
ClinGen gnomAD |
|
|
CA223756115 rs922891486 |
650 | R>S | No |
ClinGen Ensembl |
|
|
rs868185268 CA223757091 |
656 | L>P | No |
ClinGen Ensembl |
|
|
rs765713946 COSM929969 CA381036853 |
659 | P>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs765713946 CA6065837 |
659 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA223757118 rs866069455 |
660 | E>* | No |
ClinGen Ensembl |
|
|
CA381036865 rs1157912470 |
660 | E>D | No |
ClinGen TOPMed |
|
|
rs1160755838 CA381036873 |
661 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA381036892 rs1382055972 |
662 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 663 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381036909 COSM1704189 rs1369701108 COSM1704190 |
664 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA381036907 rs1369701108 |
664 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA381036915 rs758758147 |
665 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6065839 rs758758147 |
665 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292443525 CA381036930 |
666 | E>D | No |
ClinGen gnomAD |
|
|
CA381036936 rs1329790845 |
667 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA223757130 rs938681444 |
667 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6065840 rs55767673 |
668 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425219688 CA381037120 |
673 | V>A | No |
ClinGen TOPMed |
|
|
CA6065867 rs764373750 |
673 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA223757447 rs919525857 |
674 | G>V | No |
ClinGen TOPMed |
|
|
rs755857093 CA6065869 |
677 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs766165385 CA6065870 |
678 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 681 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753389992 CA6065871 |
684 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1412282082 CA381037252 |
684 | E>G | No |
ClinGen gnomAD |
|
|
rs754501625 CA6065872 |
685 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA223757460 rs929510043 |
686 | R>W | No |
ClinGen gnomAD |
|
|
CA6065873 rs778849888 |
688 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1303499789 CA381037331 |
691 | R>L | No |
ClinGen gnomAD |
|
|
CA223757482 rs987680594 |
693 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 694 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381037380 rs1565153091 |
696 | T>A | No |
ClinGen Ensembl |
|
|
CA381037387 rs1298669558 |
697 | W>R | No |
ClinGen gnomAD |
|
|
rs1344544983 CA381037406 |
698 | S>T | No |
ClinGen gnomAD |
|
|
rs1183476344 CA381037508 |
706 | E>A | No |
ClinGen TOPMed |
|
|
COSM2155516 COSM2155517 rs150226338 CA6065879 |
708 | N>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM2155519 CA381037534 rs1489096235 COSM2155518 |
708 | N>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 709 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745714945 CA223757512 |
711 | M>L | No |
ClinGen Ensembl |
|
|
CA223757513 rs1050292319 |
712 | R>Q | No |
ClinGen TOPMed |
|
|
rs1254361613 CA381037586 |
712 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs890203317 CA223757514 |
713 | E>G | No |
ClinGen TOPMed |
|
|
CA381037648 rs1466790998 |
717 | V>L | No |
ClinGen gnomAD |
|
|
CA6065880 rs745948372 |
720 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6065881 rs769778776 |
720 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs568393922 CA6065883 |
724 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6065884 rs764507787 |
725 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA223757536 CA6065886 rs320106 |
725 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1295165346 CA381037757 |
727 | L>P | No |
ClinGen gnomAD |
|
|
rs753443830 CA6065888 |
730 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs893524705 CA223757565 |
732 | M>V | No |
ClinGen Ensembl |
|
|
CA381037842 rs1411770533 |
736 | M>V | No |
ClinGen gnomAD |
|
|
rs752630847 CA6065891 |
739 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295350902 CA381037895 |
740 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 743 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751342552 CA6065894 |
743 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA381037933 rs1212591677 |
744 | D>N | No |
ClinGen gnomAD |
|
|
rs375430054 CA223757583 |
753 | C>S | No |
ClinGen Ensembl |
|
|
rs1260801120 CA381038095 |
757 | R>Q | No |
ClinGen gnomAD |
|
|
CA6065897 rs746090017 |
759 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1447149350 CA381038124 |
760 | L>F | No |
ClinGen TOPMed |
|
|
CA381038184 rs1415671030 |
765 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 767 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381038265 rs1222281988 |
773 | M>T | No |
ClinGen gnomAD |
|
|
rs1461064017 CA381038263 |
773 | M>V | No |
ClinGen TOPMed |
|
|
CA223757657 rs751395180 |
784 | N>D | No |
ClinGen Ensembl |
|
|
CA6065906 rs759144214 |
785 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs764981503 CA6065907 |
787 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q7KZI7
4 regional properties for Q7KZI7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 12 - 269 | IPR000719 |
| active_site | Serine/threonine-protein kinase, active site | 130 - 142 | IPR008271 |
| domain | Calcium/calmodulin-dependent protein kinase II, association-domain | 400 - 524 | IPR013543 |
| binding_site | Protein kinase, ATP binding site | 18 - 41 | IPR017441 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin filament | A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| microtubule bundle | An arrangement of closely apposed microtubules running parallel to each other. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
10 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. |
| lipid binding | Binding to a lipid. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| protein kinase activator activity | Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein. |
| protein serine kinase activity | Catalysis of the reactions |
| protein serine/threonine kinase activity | Catalysis of the reactions |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
| tau-protein kinase activity | Catalysis of the reaction |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
| autophagy of mitochondrion | The autophagic process in which mitochondria are delivered to a type of vacuole and degraded in response to changing cellular conditions. |
| axon development | The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation). |
| establishment of cell polarity | The specification and formation of anisotropic intracellular organization or cell growth patterns. |
| establishment or maintenance of cell polarity regulating cell shape | Any cellular process that results in the specification, formation or maintenance of a polarized intracellular organization or cell growth patterns that regulate the shape of a cell. |
| establishment or maintenance of epithelial cell apical/basal polarity | Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of an epithelial cell. |
| 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. |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| mitochondrion localization | Any process in which a mitochondrion or mitochondria are transported to, and/or maintained in, a specific location within the cell. |
| neuron migration | The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| 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. |
| regulation of axonogenesis | Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. |
| regulation of cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| regulation of microtubule binding | Any process that modulates the frequency, rate or extent of microtubule binding. |
| regulation of microtubule cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P57059 | SIK1 | Serine/threonine-protein kinase SIK1 | Homo sapiens (Human) | PR |
| Q8N5S9 | CAMKK1 | Calcium/calmodulin-dependent protein kinase kinase 1 | Homo sapiens (Human) | SS |
| Q96L34 | MARK4 | MAP/microtubule affinity-regulating kinase 4 | Homo sapiens (Human) | SS |
| Q9P0L2 | MARK1 | Serine/threonine-protein kinase MARK1 | Homo sapiens (Human) | EV |
| Q96RG2 | PASK | PAS domain-containing serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| P27448 | MARK3 | MAP/microtubule affinity-regulating kinase 3 | Homo sapiens (Human) | SS |
| Q8VHJ5 | Mark1 | Serine/threonine-protein kinase MARK1 | Mus musculus (Mouse) | SS |
| Q8C0N0 | Gm4922 | Sperm motility kinase Z | Mus musculus (Mouse) | PR |
| Q8C0X8 | Sperm motility kinase X | Mus musculus (Mouse) | PR | |
| Q03141 | Mark3 | MAP/microtubule affinity-regulating kinase 3 | Mus musculus (Mouse) | SS |
| Q8CIP4 | Mark4 | MAP/microtubule affinity-regulating kinase 4 | Mus musculus (Mouse) | SS |
| A0AUV4 | Gm7168 | Sperm motility kinase Y | Mus musculus (Mouse) | PR |
| Q05512 | Mark2 | Serine/threonine-protein kinase MARK2 | Mus musculus (Mouse) | SS |
| O08678 | Mark1 | Serine/threonine-protein kinase MARK1 | Rattus norvegicus (Rat) | SS |
| Q8VHF0 | Mark3 | MAP/microtubule affinity-regulating kinase 3 | Rattus norvegicus (Rat) | SS |
| O08679 | Mark2 | Serine/threonine-protein kinase MARK2 | Rattus norvegicus (Rat) | SS |
| Q852Q1 | OSK4 | Serine/threonine protein kinase OSK4 | Oryza sativa subsp. japonica (Rice) | SS |
| Q852Q2 | OSK1 | Serine/threonine protein kinase OSK1 | Oryza sativa subsp. japonica (Rice) | SS |
| Q852Q0 | OSK3 | Serine/threonine protein kinase OSK3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q9TW45 | par-1 | Serine/threonine-protein kinase par-1 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSARTPLPT | LNERDTEQPT | LGHLDSKPSS | KSNMIRGRNS | ATSADEQPHI | GNYRLLKTIG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KGNFAKVKLA | RHILTGKEVA | VKIIDKTQLN | SSSLQKLFRE | VRIMKVLNHP | NIVKLFEVIE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TEKTLYLVME | YASGGEVFDY | LVAHGRMKEK | EARAKFRQIV | SAVQYCHQKF | IVHRDLKAEN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLLDADMNIK | IADFGFSNEF | TFGNKLDTFC | GSPPYAAPEL | FQGKKYDGPE | VDVWSLGVIL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YTLVSGSLPF | DGQNLKELRE | RVLRGKYRIP | FYMSTDCENL | LKKFLILNPS | KRGTLEQIMK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DRWMNVGHED | DELKPYVEPL | PDYKDPRRTE | LMVSMGYTRE | EIQDSLVGQR | YNEVMATYLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LGYKSSELEG | DTITLKPRPS | ADLTNSSAPS | PSHKVQRSVS | ANPKQRRFSD | QAAGPAIPTS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NSYSKKTQSN | NAENKRPEED | RESGRKASST | AKVPASPLPG | LERKKTTPTP | STNSVLSTST |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NRSRNSPLLE | RASLGQASIQ | NGKDSLTMPG | SRASTASASA | AVSAARPRQH | QKSMSASVHP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NKASGLPPTE | SNCEVPRPST | APQRVPVASP | SAHNISSSGG | APDRTNFPRG | VSSRSTFHAG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QLRQVRDQQN | LPYGVTPASP | SGHSQGRRGA | SGSIFSKFTS | KFVRRNLSFR | FARRNLNEPE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SKDRVETLRP | HVVGSGGNDK | EKEEFREAKP | RSLRFTWSMK | TTSSMEPNEM | MREIRKVLDA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NSCQSELHEK | YMLLCMHGTP | GHEDFVQWEM | EVCKLPRLSL | NGVRFKRISG | TSMAFKNIAS |
| KIANELKL |