P27448
Gene name |
MARK3 (CTAK1, EMK2) |
Protein name |
MAP/microtubule affinity-regulating kinase 3 |
Names |
EC 2.7.11.1 , C-TAK1 , cTAK1 , Cdc25C-associated protein kinase 1 , ELKL motif kinase 2 , EMK-2 , Protein kinase STK10 , Ser/Thr protein kinase PAR-1 , Par-1a , Serine/threonine-protein kinase p78 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4140 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
56-307 (Protein kinase domain) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
195-217 (Activation loop from InterPro)
Target domain |
56-307 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

4 structures for P27448
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2QNJ | X-ray | 270 A | A/B | 48-370 | PDB |
3FE3 | X-ray | 190 A | A/B | 41-367 | PDB |
7P1L | X-ray | 195 A | A/B | 48-366 | PDB |
AF-P27448-F1 | Predicted | AlphaFoldDB |
564 variants for P27448
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs376395495 RCV000736034 VAR_080778 CA7364227 |
570 | R>G | Visual impairment and progressive phthisis bulbi VIPB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs754098782 CA7363668 |
2 | S>F | No |
ClinGen ExAC gnomAD |
|
rs766333372 CA391109646 |
2 | S>P | No |
ClinGen ExAC gnomAD |
|
CA7363667 rs766333372 |
2 | S>T | No |
ClinGen ExAC gnomAD |
|
rs753108348 CA7363671 |
3 | T>I | No |
ClinGen ExAC gnomAD |
|
CA391109664 rs1248724256 |
4 | R>G | No |
ClinGen gnomAD |
|
rs759014038 CA7363672 |
5 | T>I | No |
ClinGen ExAC gnomAD |
|
CA391109693 rs1234027853 |
6 | P>L | No |
ClinGen TOPMed |
|
rs1248654520 CA391109686 |
6 | P>S | No |
ClinGen gnomAD |
|
CA7363674 rs747478476 |
9 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1413560652 CA391109722 |
9 | T>M | No |
ClinGen TOPMed gnomAD |
|
CA391109721 rs1413560652 |
9 | T>R | No |
ClinGen TOPMed gnomAD |
|
CA391109761 rs1406354719 |
13 | R>* | No |
ClinGen gnomAD |
|
CA267215237 rs376529319 |
15 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7363675 rs376529319 |
15 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376529319 CA7363676 |
15 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7363677 rs371019779 |
16 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
CA267215238 rs371019779 |
16 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
CA391109806 rs1319306809 |
17 | N>K | No |
ClinGen gnomAD |
|
CA7363678 rs575811139 |
17 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA267198194 rs1043701941 |
18 | H>Q | No |
ClinGen gnomAD |
|
rs375599947 CA7363705 |
19 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375599947 CA7363704 |
19 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375599947 CA7363706 |
19 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs200657300 CA7363708 |
21 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA267198201 rs907772100 |
21 | H>Y | No |
ClinGen TOPMed |
|
TCGA novel | 23 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7363709 rs575340739 |
25 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7363710 rs370547663 |
25 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1391486471 CA391098041 |
26 | Q>* | No |
ClinGen gnomAD |
|
CA7363711 rs181004032 |
26 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7363713 rs755607083 |
29 | T>N | No |
ClinGen ExAC gnomAD |
|
CA7363712 rs750889006 |
29 | T>P | No |
ClinGen ExAC gnomAD |
|
CA267198248 rs79935861 |
31 | R>C | No |
ClinGen 1000Genomes TOPMed |
|
rs200852191 CA7363714 |
31 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA391098072 rs200852191 |
31 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 31 | R>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7363715 rs748957296 |
32 | T>P | No |
ClinGen ExAC gnomAD |
|
rs754613850 CA7363716 |
34 | R>C | No |
ClinGen ExAC gnomAD |
|
rs200073071 CA7363717 |
34 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7363718 rs190300333 |
35 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA391098092 rs1295490926 |
35 | S>P | No |
ClinGen gnomAD |
|
CA7363719 rs772097999 |
37 | A>S | No |
ClinGen ExAC gnomAD |
|
rs772097999 CA391098102 |
37 | A>T | No |
ClinGen ExAC gnomAD |
|
CA7363720 rs569205142 |
38 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1000029942 CA267198276 |
38 | R>W | No |
ClinGen TOPMed |
|
rs746925323 CA7363721 |
40 | R>G | No |
ClinGen ExAC gnomAD |
|
rs551785219 CA391098136 |
42 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA7363723 rs551785219 |
42 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs147319070 CA7363724 |
43 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764378932 CA7363725 |
44 | A>S | No |
ClinGen ExAC gnomAD |
|
rs944164023 CA267198323 |
45 | S>C | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 45 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA267198329 rs757385600 |
46 | C>F | No |
ClinGen TOPMed |
|
rs527327166 CA267198333 |
48 | D>N | No |
ClinGen gnomAD |
|
rs767880418 CA7363728 |
49 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1443294757 CA391098193 |
51 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA391098225 rs1436509322 |
53 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA391098219 rs1364490407 |
53 | I>V | No |
ClinGen gnomAD |
|
CA7363732 rs753345526 |
54 | G>R | No |
ClinGen ExAC gnomAD |
|
CA267198370 rs981054895 |
62 | I>V | No |
ClinGen TOPMed |
|
CA267198378 rs1043117071 |
63 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs372607310 CA7363737 |
64 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 64 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA391098370 rs1263842810 |
65 | G>E | No |
ClinGen gnomAD |
|
rs780320164 CA7363740 |
69 | K>* | No |
ClinGen ExAC gnomAD |
|
rs780320164 CA391098407 |
69 | K>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 69 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 70 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774466040 CA7363743 |
74 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391098487 rs1290691742 |
76 | I>T | No |
ClinGen gnomAD |
|
CA391098510 rs1395883068 |
78 | T>I | No |
ClinGen gnomAD |
|
TCGA novel | 86 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs751368718 CA7363757 |
86 | I>M | No |
ClinGen ExAC gnomAD |
|
CA391102430 rs1308544392 |
86 | I>T | No |
ClinGen gnomAD |
|
CA391102455 rs1281016650 |
88 | D>G | No |
ClinGen gnomAD |
|
rs1486605452 CA391102484 |
91 | Q>* | No |
ClinGen gnomAD |
|
CA391102502 rs1202840558 |
92 | L>F | No |
ClinGen gnomAD |
|
TCGA novel | 92 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs781297045 CA7363759 |
94 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1481087433 CA391102530 |
95 | T>A | No |
ClinGen gnomAD |
|
CA391102535 rs1421357847 |
95 | T>R | No |
ClinGen TOPMed |
|
TCGA novel | 97 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs865941496 CA267217933 |
99 | K>N | No |
ClinGen TOPMed |
|
CA391102580 rs1179115060 |
99 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA391104906 rs1199646709 |
100 | L>F | No |
ClinGen gnomAD |
|
rs756068457 CA7363796 |
105 | R>K | No |
ClinGen ExAC gnomAD |
|
CA391105081 rs1326008201 |
113 | P>H | No |
ClinGen gnomAD |
|
CA391105089 rs1372475515 |
114 | N>S | No |
ClinGen gnomAD |
|
CA391105102 rs1296834422 |
115 | I>T | No |
ClinGen gnomAD |
|
rs1432847789 CA391105097 |
115 | I>V | No |
ClinGen gnomAD |
|
rs753672663 CA7363816 |
117 | K>R | No |
ClinGen ExAC gnomAD |
|
CA7363817 rs758538460 |
118 | L>V | No |
ClinGen ExAC gnomAD |
|
rs375699767 CA267228594 |
119 | F>L | No |
ClinGen ESP |
|
rs370291346 CA391105303 |
119 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757458884 CA7363821 |
125 | E>G | No |
ClinGen ExAC gnomAD |
|
rs781575952 CA7363822 |
127 | T>K | No |
ClinGen ExAC gnomAD |
|
rs1408014114 CA391105392 |
128 | L>F | No |
ClinGen gnomAD |
|
CA7363823 rs746221804 |
129 | Y>* | No |
ClinGen ExAC TOPMed |
|
rs750152795 CA267228620 |
129 | Y>C | No |
ClinGen gnomAD |
|
rs934605970 CA267228625 |
130 | L>V | No |
ClinGen TOPMed |
|
rs1374752229 CA391105477 |
136 | S>N | No |
ClinGen gnomAD |
|
rs770003919 CA7363824 |
137 | G>A | No |
ClinGen ExAC |
|
CA391105605 rs1291930706 |
140 | V>L | No |
ClinGen TOPMed |
|
rs938145835 CA267230829 |
148 | G>S | No |
ClinGen TOPMed |
|
rs747642136 CA7363850 |
149 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 154 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 156 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA391105751 rs1388208461 |
160 | R>I | No |
ClinGen gnomAD |
|
CA391105757 rs1461336650 |
161 | Q>* | No |
ClinGen gnomAD |
|
CA267198403 rs765635317 |
162 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7363886 rs376017188 |
162 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765635317 CA7363885 |
162 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1595793403 CA391097512 |
163 | V>M | No |
ClinGen Ensembl |
|
CA391097541 rs1377600286 |
166 | V>I | No |
ClinGen gnomAD |
|
CA7363888 rs777409510 |
168 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs921492640 CA267198409 |
170 | H>R | No |
ClinGen Ensembl |
|
rs1391533661 CA391097648 |
173 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1372142417 CA391097643 |
173 | R>W | No |
ClinGen gnomAD |
|
CA7363890 rs756740462 |
176 | H>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 177 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA267198418 rs999896701 |
177 | R>Q | No |
ClinGen TOPMed |
|
rs1167386363 CA391097718 |
179 | L>R | No |
ClinGen TOPMed |
|
rs1424796733 CA487989180 |
180 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA7363891 rs780737599 |
180 | K>R | No |
ClinGen ExAC gnomAD |
|
CA391097820 rs1255518948 |
181 | A>G | No |
ClinGen gnomAD |
|
rs1214385247 CA391097816 |
181 | A>T | No |
ClinGen gnomAD |
|
rs768452348 CA7363915 |
189 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1428777613 CA391097918 |
195 | A>P | No |
ClinGen gnomAD |
|
CA7363916 rs774189676 |
196 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1310890490 CA391097938 |
198 | G>S | No |
ClinGen gnomAD |
|
CA391097964 rs1247093515 |
201 | N>S | No |
ClinGen TOPMed |
|
CA7363917 rs748055431 |
204 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391098562 rs1428487400 |
205 | V>I | No |
ClinGen gnomAD |
|
CA391098585 rs759904820 |
207 | G>C | No |
ClinGen ExAC gnomAD |
|
CA7363920 rs759904820 |
207 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1027620078 CA267200086 |
207 | G>V | No |
ClinGen TOPMed |
|
CA7363923 rs374376161 |
210 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs910719241 CA267200102 |
211 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 215 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1595809606 CA391098694 |
215 | S>R | No |
ClinGen Ensembl |
|
CA267200111 rs543788501 |
216 | P>A | No |
ClinGen gnomAD |
|
rs1566893296 CA391098711 |
217 | P>Q | No |
ClinGen Ensembl |
|
rs1566893285 CA391098706 |
217 | P>T | No |
ClinGen Ensembl |
|
CA391098727 rs367593157 |
218 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA391098736 rs1481848819 |
219 | A>E | No |
ClinGen gnomAD |
|
CA391098738 rs1481848819 |
219 | A>V | No |
ClinGen gnomAD |
|
rs767077438 CA7363927 |
225 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA391098841 rs1243165419 |
226 | G>D | No |
ClinGen gnomAD |
|
rs1487080642 CA391098855 |
227 | K>R | No |
ClinGen gnomAD |
|
CA7363928 rs751426162 |
229 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs1415275487 CA391098919 |
231 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs754737014 CA7363933 |
237 | W>* | No |
ClinGen ExAC gnomAD |
|
rs1285641010 CA391099122 |
249 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1209187455 CA391099128 |
250 | S>L | No |
ClinGen gnomAD |
|
rs752508590 CA7363954 |
261 | L>Q | No |
ClinGen ExAC |
|
TCGA novel | 262 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs367977050 CA7363957 |
263 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM552177 CA391099474 COSM1649085 rs1349102878 |
266 | L>* | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA391099527 rs1213441007 |
269 | K>R | No |
ClinGen gnomAD |
|
CA7363958 rs770004435 |
270 | Y>N | No |
ClinGen ExAC gnomAD |
|
CA7363959 rs372041993 |
273 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA7363960 rs749535387 |
276 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1266329253 CA391099785 |
281 | E>D | No |
ClinGen TOPMed |
|
CA7363962 rs774626139 |
285 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1566894353 CA391099880 |
286 | R>C | No |
ClinGen Ensembl |
|
CA391099904 rs1409550063 |
287 | F>L | No |
ClinGen gnomAD |
|
rs1329652709 CA391099908 |
288 | L>Q | No |
ClinGen gnomAD |
|
CA7363963 rs538619934 |
289 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA267200300 rs375530219 |
291 | N>I | No |
ClinGen ESP |
|
TCGA novel | 291 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1438767893 CA391099976 |
294 | K>R | No |
ClinGen gnomAD |
|
CA391099986 rs1303381227 |
295 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs200117383 CA7363965 |
296 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7363966 rs200117383 |
296 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375914655 CA7363967 |
297 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA391100017 rs1162293605 |
297 | T>S | No |
ClinGen TOPMed |
|
CA391100022 rs1337064741 |
298 | L>V | No |
ClinGen gnomAD |
|
CA7363984 rs771400236 |
301 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1468881067 CA391100151 |
303 | K>N | No |
ClinGen gnomAD |
|
CA391100174 rs1211526313 |
305 | R>K | No |
ClinGen gnomAD |
|
CA391100172 rs1316631529 |
305 | R>W | No |
ClinGen TOPMed |
|
rs776057283 CA7363985 |
308 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1725303 rs759111090 CA7363986 COSM1725304 |
309 | A>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA7363987 rs764614999 |
309 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1164330561 CA391100312 |
314 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs764043744 CA7363990 |
320 | V>F | No |
ClinGen ExAC gnomAD |
|
rs1157387862 CA391100446 |
321 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs560167611 CA7363991 |
323 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7363992 rs750630186 |
324 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767511859 CA7363993 |
325 | D>H | No |
ClinGen ExAC gnomAD |
|
rs1342000495 CA391100533 |
326 | I>N | No |
ClinGen gnomAD |
|
CA391100536 rs1342000495 |
326 | I>T | No |
ClinGen gnomAD |
|
CA391100548 rs1442772905 |
327 | S>T | No |
ClinGen TOPMed |
|
rs1277910505 CA391100589 |
329 | Q>E | No |
ClinGen TOPMed |
|
TCGA novel | 331 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs978970301 CA267200467 |
331 | R>T | No |
ClinGen TOPMed |
|
CA7363994 rs750286005 |
332 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391100655 rs1297632966 |
332 | I>V | No |
ClinGen TOPMed |
|
rs765426253 CA7364014 |
333 | D>G | No |
ClinGen ExAC gnomAD |
|
rs752743694 CA7364015 |
334 | I>T | No |
ClinGen ExAC gnomAD |
|
rs376654076 CA7364016 |
335 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777996242 CA7364017 |
336 | V>M | No |
ClinGen ExAC gnomAD |
|
CA391100929 rs1174652840 |
337 | G>R | No |
ClinGen gnomAD |
|
rs933009953 CA267200991 |
339 | G>E | No |
ClinGen Ensembl |
|
rs751743889 CA7364018 |
339 | G>R | No |
ClinGen ExAC gnomAD |
|
CA267200995 rs536045492 |
340 | Y>* | No |
ClinGen Ensembl |
|
rs189704054 CA7364020 |
340 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1311443561 CA391101032 |
344 | E>G | No |
ClinGen gnomAD |
|
CA7364022 rs745895593 |
344 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs201105695 CA267201009 |
345 | I>V | No |
ClinGen Ensembl |
|
CA391101058 rs1368687286 |
346 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs886726891 CA267201012 |
347 | E>K | No |
ClinGen gnomAD |
|
CA391101086 rs1470781655 |
348 | S>F | No |
ClinGen TOPMed |
|
CA7364025 rs201422873 |
351 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 351 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768241358 CA7364026 |
351 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1458313187 CA391101143 |
352 | M>T | No |
ClinGen gnomAD |
|
rs894317776 CA267201023 |
354 | Y>C | No |
ClinGen TOPMed |
|
rs1595817590 CA391101168 |
355 | D>G | No |
ClinGen Ensembl |
|
rs1467013989 CA391101164 |
355 | D>N | No |
ClinGen TOPMed |
|
rs771961248 CA7364029 |
365 | G>E | No |
ClinGen ExAC gnomAD |
|
CA267201040 rs1014056210 |
368 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs1372129434 CA391101262 |
369 | S>* | No |
ClinGen gnomAD |
|
rs1024235523 CA267201042 |
369 | S>A | No |
ClinGen TOPMed |
|
CA391101500 rs1288002702 |
372 | D>Y | No |
ClinGen gnomAD |
|
CA391101518 rs1343364677 |
373 | A>G | No |
ClinGen TOPMed |
|
CA7364045 rs749743518 |
373 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 374 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1402029529 CA391101554 |
376 | S>Y | No |
ClinGen gnomAD |
|
rs368170565 CA267201526 |
377 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
rs778554199 CA7364047 |
379 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1292724211 CA391101590 |
379 | S>N | No |
ClinGen gnomAD |
|
CA7364048 rs747903624 |
381 | N>S | No |
ClinGen ExAC gnomAD |
|
CA7364049 rs371473873 |
383 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
rs773110095 CA7364050 |
385 | A>G | No |
ClinGen ExAC gnomAD |
|
rs746805734 CA391101687 |
387 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364051 rs746805734 |
387 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1195446283 CA391101714 |
389 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs201880493 CA7364052 |
390 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1472212961 CA391101759 |
392 | D>E | No |
ClinGen gnomAD |
|
rs776556563 CA7364053 |
394 | N>S | No |
ClinGen ExAC gnomAD |
|
CA391101810 rs1398822483 |
396 | S>I | No |
ClinGen gnomAD |
|
CA391101806 rs1398822483 |
396 | S>N | No |
ClinGen gnomAD |
|
CA391101822 rs1157850011 |
397 | T>I | No |
ClinGen gnomAD |
|
rs1595822967 CA391101816 |
397 | T>P | No |
ClinGen Ensembl |
|
CA7364055 rs368291904 |
400 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762139723 CA7364057 |
402 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1285970545 CA391101946 |
407 | R>* | No |
ClinGen gnomAD |
|
CA7364060 rs116462326 |
409 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7364061 rs116462326 |
409 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs10137161 CA391101990 |
410 | S>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
CA267201588 rs10137161 VAR_080189 |
410 | S>F | No |
ClinGen UniProt 1000Genomes ESP ExAC dbSNP gnomAD |
|
CA391101988 rs10137161 |
410 | S>Y | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
CA7364064 rs778607174 |
412 | S>N | No |
ClinGen ExAC gnomAD |
|
rs200501056 CA7364063 |
412 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA267201598 rs937596405 |
413 | Q>R | No |
ClinGen Ensembl |
|
rs747590435 CA7364065 |
414 | K>E | No |
ClinGen ExAC |
|
rs777326081 CA7364067 |
415 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199679958 CA7364068 |
417 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7364069 rs770729536 |
417 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391102075 rs199679958 |
417 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1380825626 CA391102121 |
420 | D>V | No |
ClinGen gnomAD |
|
CA391102131 rs1256158034 |
421 | H>R | No |
ClinGen TOPMed |
|
CA7364085 rs372769476 |
423 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1191538655 COSM1607360 COSM3706133 CA391103894 COSM1607359 |
423 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs777282141 CA7364086 |
424 | P>A | No |
ClinGen ExAC gnomAD |
|
CA7364087 rs751231451 |
424 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781012309 CA7364089 |
426 | I>V | No |
ClinGen ExAC gnomAD |
|
rs745681392 CA7364090 |
427 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391103952 rs1438547551 |
427 | P>S | No |
ClinGen TOPMed |
|
VAR_040765 | 429 | V>A | No | UniProt | |
CA391103982 rs1407739610 |
429 | V>L | No |
ClinGen Ensembl |
|
rs1468637579 CA391104006 |
430 | V>A | No |
ClinGen TOPMed |
|
rs769535253 CA7364091 |
430 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364092 rs779860437 |
431 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1332082660 CA391104035 |
432 | Y>C | No |
ClinGen gnomAD |
|
rs369682757 CA267206718 |
433 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
CA7364094 rs201851374 |
433 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1258087686 CA391104062 |
434 | K>E | No |
ClinGen gnomAD |
|
rs1376331984 CA391104080 |
434 | K>N | No |
ClinGen TOPMed |
|
CA7364096 rs761019237 |
435 | R>K | No |
ClinGen ExAC gnomAD |
|
rs776944589 CA7364098 |
440 | T>S | No |
ClinGen ExAC gnomAD |
|
rs760013107 CA7364099 |
441 | A>T | No |
ClinGen ExAC gnomAD |
|
VAR_046763 rs56305318 CA7364100 |
443 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA391104206 rs1434764223 |
446 | K>R | No |
ClinGen Ensembl |
|
rs369090535 CA267206753 |
447 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs1468871680 CA391104222 |
448 | D>V | No |
ClinGen TOPMed gnomAD |
|
rs753159991 CA7364101 |
449 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 450 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1419006668 CA391104238 |
451 | S>A | No |
ClinGen TOPMed |
|
rs1378018680 CA391104242 |
451 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA391104248 rs1194926866 |
452 | S>F | No |
ClinGen TOPMed |
|
rs751055252 CA7364104 |
453 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763549944 CA7364103 |
453 | R>W | No |
ClinGen ExAC gnomAD |
|
CA391104267 rs1392069089 |
455 | S>L | No |
ClinGen gnomAD |
|
rs1058545 CA267206792 |
456 | S>T | No |
ClinGen Ensembl |
|
rs1245788712 CA391104322 |
460 | V>I | No |
ClinGen TOPMed |
|
CA391104363 rs56126530 |
463 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs780850846 CA7364107 |
464 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364108 rs750010052 |
466 | A>P | No |
ClinGen ExAC gnomAD |
|
CA391104404 rs1341883197 |
467 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs201865630 CA7364110 |
467 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs56157932 CA7364111 |
468 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA267206834 rs747082790 |
469 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA391104430 rs1356885103 |
470 | P>S | No |
ClinGen gnomAD |
|
TCGA novel | 471 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1236614723 CA391104447 |
471 | M>T | No |
ClinGen TOPMed |
|
CA7364112 rs768608074 |
473 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1566911840 CA391104501 |
476 | S>G | No |
ClinGen Ensembl |
|
rs777766882 CA7364113 |
477 | N>S | No |
ClinGen ExAC |
|
rs747108602 CA7364114 |
479 | N>S | No |
ClinGen ExAC gnomAD |
|
rs747108602 CA7364115 |
479 | N>T | No |
ClinGen ExAC gnomAD |
|
rs1488104707 CA391104561 |
480 | K>N | No |
ClinGen gnomAD |
|
CA7364117 rs183634888 |
481 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777001487 CA7364116 |
481 | A>S | No |
ClinGen ExAC gnomAD |
|
COSM953631 CA7364118 rs183634888 |
481 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA391104590 rs1186843855 |
483 | I>V | No |
ClinGen gnomAD |
|
CA391104605 rs1322995604 |
484 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA7364120 rs763415385 |
485 | E>K | No |
ClinGen ExAC gnomAD |
|
rs202148764 CA7364121 |
486 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs117953446 CA7364122 |
486 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs117953446 CA7364123 |
486 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 487 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1595860555 CA391104639 |
487 | K>Q | No |
ClinGen Ensembl |
|
CA7364126 rs528980428 |
490 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7364125 rs750133409 |
490 | S>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 491 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs753646857 CA7364128 |
493 | P>L | No |
ClinGen ExAC gnomAD |
|
rs766126874 CA7364127 |
493 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364129 rs754681871 |
494 | S>T | No |
ClinGen ExAC gnomAD |
|
CA391105204 rs1174974633 |
498 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1269510934 CA391105210 |
499 | S>A | No |
ClinGen TOPMed |
|
rs1377831106 CA391105212 |
499 | S>C | No |
ClinGen gnomAD |
|
CA391105214 rs1239059237 |
500 | G>S | No |
ClinGen TOPMed |
|
CA391105219 rs1467195253 |
500 | G>V | No |
ClinGen gnomAD |
|
rs745963589 CA7364154 |
501 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1024348080 CA267211442 |
502 | M>L | No |
ClinGen gnomAD |
|
CA7364156 rs372126503 |
504 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA267211452 rs774152710 |
504 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs749410440 CA7364157 |
505 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769120997 CA7364158 |
505 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs774692178 CA7364159 |
506 | N>I | No |
ClinGen ExAC gnomAD |
|
CA391105257 rs1373614830 |
507 | T>I | No |
ClinGen TOPMed |
|
rs748693783 CA7364160 |
507 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1319255655 CA616418389 |
508 | Y>* | No |
ClinGen gnomAD |
|
rs375161932 CA7364162 |
508 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1032999641 CA267211486 |
511 | S>G | No |
ClinGen gnomAD |
|
CA391105318 rs1160383537 |
511 | S>N | No |
ClinGen TOPMed |
|
rs776833534 CA267211488 |
514 | T>A | No |
ClinGen Ensembl |
|
rs760263780 CA7364163 |
515 | T>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 515 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1267619667 CA391105403 |
516 | A>T | No |
ClinGen gnomAD |
|
rs776362898 CA7364165 |
517 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770282355 CA7364164 |
517 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759099434 CA7364166 |
519 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368541567 CA7364168 |
520 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
rs535389525 CA7364169 |
524 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs764154078 CA7364170 |
525 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1595883118 CA391105553 |
526 | K>E | No |
ClinGen Ensembl |
|
CA7364171 rs184460295 |
526 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1249752136 CA391105564 |
527 | E>G | No |
ClinGen TOPMed |
|
rs779983352 CA7364173 |
528 | N>D | No |
ClinGen ExAC gnomAD |
|
CA391106140 rs1197987097 |
530 | T>I | No |
ClinGen gnomAD |
|
CA7364210 rs550826960 |
531 | I>V | No |
ClinGen 1000Genomes ExAC |
|
rs759617286 CA7364211 |
533 | D>Y | No |
ClinGen ExAC |
|
CA391106207 rs1196395090 |
541 | T>A | No |
ClinGen gnomAD |
|
rs1478450846 CA391106221 |
543 | S>G | No |
ClinGen gnomAD |
|
CA391106232 rs1356731711 |
544 | I>T | No |
ClinGen TOPMed |
|
CA391106239 rs1201722429 |
545 | S>T | No |
ClinGen gnomAD |
|
CA267226032 rs866468469 |
546 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA267226035 rs1038492703 |
546 | S>N | No |
ClinGen gnomAD |
|
CA391106254 rs1302450954 |
547 | A>V | No |
ClinGen TOPMed |
|
CA391106258 rs1465152048 |
548 | A>D | No |
ClinGen TOPMed gnomAD |
|
CA7364214 rs758617938 |
550 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751851438 CA7364216 |
551 | D>E | No |
ClinGen ExAC gnomAD |
|
rs757596077 CA7364218 |
552 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA7364219 rs767720389 |
552 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768946849 CA267226056 |
553 | I>S | No |
ClinGen Ensembl |
|
CA7364220 rs755741737 |
553 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs181804827 CA7364221 |
554 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7364222 rs369866994 |
554 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA267226063 rs867830427 |
556 | P>S | No |
ClinGen Ensembl |
|
rs1217473820 CA391106304 |
557 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA267226066 rs1804931 |
558 | G>V | No |
ClinGen Ensembl |
|
rs768169175 CA7364223 |
559 | T>A | No |
ClinGen ExAC gnomAD |
|
rs373318191 CA267226073 |
559 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
CA391106330 rs1566937587 |
561 | S>I | No |
ClinGen Ensembl |
|
CA391106347 rs1341314645 |
563 | S>R | No |
ClinGen gnomAD |
|
CA391106371 rs1207865053 |
567 | G>R | No |
ClinGen gnomAD |
|
CA7364224 rs774006925 |
569 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1001396009 CA391106389 |
570 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1001396009 CA267226094 |
570 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA7364226 rs376395495 |
570 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7364228 rs760594588 |
571 | E>K | No |
ClinGen ExAC TOPMed |
|
CA7364230 rs775520582 |
572 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364229 rs765368921 |
572 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364231 rs763214749 |
573 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA7364232 rs764249228 |
573 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764249228 CA267226106 |
573 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391106410 rs767907025 |
575 | A>S | No |
ClinGen ExAC gnomAD |
|
rs767907025 CA7364235 |
575 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1398859844 CA391106426 |
577 | Y>* | No |
ClinGen TOPMed gnomAD |
|
rs1358156331 CA391106424 |
577 | Y>C | No |
ClinGen gnomAD |
|
CA267226115 rs1024787504 |
578 | N>D | No |
ClinGen TOPMed gnomAD |
|
rs1024787504 CA391106428 |
578 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA7364236 rs751035614 |
579 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391106438 rs751035614 |
579 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 580 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1486785848 CA391106445 |
580 | P>L | No |
ClinGen gnomAD |
|
rs1408679997 CA391106450 |
581 | P>R | No |
ClinGen TOPMed |
|
CA391106460 rs1468207498 |
583 | S>A | No |
ClinGen TOPMed |
|
TCGA novel | 583 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7364239 rs748829483 |
584 | P>S | No |
ClinGen ExAC gnomAD |
|
rs754470711 CA7364240 |
585 | S>T | No |
ClinGen ExAC |
|
CA391106489 rs1217470884 |
588 | H>Y | No |
ClinGen gnomAD |
|
rs1566937975 CA391106495 |
589 | E>K | No |
ClinGen Ensembl |
|
CA391106512 rs1263899147 |
591 | T>I | No |
ClinGen gnomAD |
|
CA391106545 rs1369544435 |
596 | T>N | No |
ClinGen gnomAD |
|
rs1490091244 CA391106544 |
596 | T>P | No |
ClinGen TOPMed |
|
rs1446821201 CA391106549 COSM953634 |
597 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA7364244 rs185333227 |
597 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7364243 rs185333227 |
597 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs374315370 CA7364246 |
598 | S>R | No |
ClinGen ESP ExAC |
|
CA391106559 rs1319085433 |
599 | R>* | No |
ClinGen TOPMed |
|
rs376631511 CA391106560 |
599 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376631511 CA7364247 |
599 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1418675486 CA391106567 |
600 | G>V | No |
ClinGen gnomAD |
|
CA391106571 rs1289052711 |
601 | S>Y | No |
ClinGen gnomAD |
|
rs1223706978 CA391106578 |
602 | T>I | No |
ClinGen TOPMed |
|
rs1393780238 CA391106580 |
603 | N>D | No |
ClinGen gnomAD |
|
rs1393780238 CA391106582 |
603 | N>H | No |
ClinGen gnomAD |
|
rs1196018921 CA391106595 |
605 | F>L | No |
ClinGen gnomAD |
|
CA7364249 rs762979045 |
608 | L>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 609 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1454390791 CA391106648 |
612 | L>R | No |
ClinGen TOPMed gnomAD |
|
CA267226152 rs1032836436 |
612 | L>V | No |
ClinGen Ensembl |
|
rs1306752107 CA391106654 |
613 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA391106652 rs1306752107 |
613 | T>K | No |
ClinGen gnomAD |
|
CA7364250 rs768720143 |
614 | R>K | No |
ClinGen ExAC gnomAD |
|
rs918295493 CA267226159 |
615 | R>G | No |
ClinGen TOPMed |
|
rs930987270 CA267226162 |
615 | R>K | No |
ClinGen TOPMed |
|
CA7364270 rs553019979 |
617 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA391106755 rs1364540708 |
620 | R>S | No |
ClinGen TOPMed |
|
rs1270924389 CA391106760 |
621 | F>Y | No |
ClinGen TOPMed |
|
rs1490722957 CA391106812 |
625 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs376242259 CA7364295 |
627 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 629 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs771183306 CA7364296 |
633 | G>R | No |
ClinGen ExAC gnomAD |
|
CA7364297 rs773581917 |
634 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771489646 CA391106961 |
636 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777024619 CA7364300 |
636 | E>D | No |
ClinGen ExAC gnomAD |
|
CA7364299 rs771489646 |
636 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1433494262 CA391106968 |
637 | G>C | No |
ClinGen TOPMed |
|
rs1009022195 CA267229052 |
637 | G>D | No |
ClinGen TOPMed |
|
CA391106984 rs1158242003 |
638 | S>L | No |
ClinGen gnomAD |
|
CA267229056 rs962097496 |
638 | S>P | No |
ClinGen Ensembl |
|
rs1432965261 CA391106988 |
639 | S>G | No |
ClinGen gnomAD |
|
rs769989777 CA7364321 |
640 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs769989777 CA7364320 |
640 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364322 rs763442191 |
640 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364323 rs763442191 |
640 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769989777 CA391107943 |
640 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391107950 rs1419310008 |
641 | N>D | No |
ClinGen TOPMed gnomAD |
|
rs1419310008 CA391107949 |
641 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs773826573 CA391107955 |
641 | N>I | No |
ClinGen ExAC gnomAD |
|
rs773826573 CA7364324 |
641 | N>S | No |
ClinGen ExAC gnomAD |
|
CA391107963 rs1217456528 |
642 | V>I | No |
ClinGen TOPMed |
|
rs767227964 CA7364326 |
643 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1317177613 CA391108009 |
645 | E>D | No |
ClinGen TOPMed |
|
CA391107999 rs1264915485 |
645 | E>K | No |
ClinGen gnomAD |
|
CA391108013 rs1595983245 |
646 | Q>* | No |
ClinGen Ensembl |
|
CA391108038 rs1456330085 |
647 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs755949997 CA7364328 |
650 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391108086 rs188709144 |
651 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7364330 rs188709144 |
651 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA391108100 rs1189659875 |
652 | E>Q | No |
ClinGen gnomAD |
|
CA391108117 rs1480796396 |
653 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA391108112 rs1428739520 |
653 | A>T | No |
ClinGen gnomAD |
|
TCGA novel | 655 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7364333 rs754936446 |
656 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364332 rs754936446 |
656 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391108162 rs1409764269 |
657 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA391108159 rs1409764269 |
657 | S>T | No |
ClinGen TOPMed gnomAD |
|
rs1000228215 CA267230240 |
658 | L>P | No |
ClinGen TOPMed |
|
rs1317643007 CA391108185 |
659 | R>H | No |
ClinGen TOPMed |
|
rs757336887 CA7364335 |
662 | W>C | No |
ClinGen ExAC gnomAD |
|
rs781504259 CA7364336 |
664 | M>T | No |
ClinGen ExAC gnomAD |
|
CA267230261 rs1037483372 |
670 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA7364338 rs770238234 |
671 | D>N | No |
ClinGen ExAC gnomAD |
|
CA7364339 rs780281679 |
671 | D>V | No |
ClinGen ExAC gnomAD |
|
rs774776047 CA7364343 |
673 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774776047 CA7364342 |
673 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1273492258 CA391108382 |
673 | G>R | No |
ClinGen gnomAD |
|
rs1273492258 CA391108386 |
673 | G>W | No |
ClinGen gnomAD |
|
rs760213752 CA7364346 |
674 | D>A | No |
ClinGen ExAC gnomAD |
|
CA391108392 rs772967244 |
674 | D>N | No |
ClinGen ExAC gnomAD |
|
CA7364345 rs772967244 |
674 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA7364347 rs369296724 |
675 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
CA7364348 rs753670998 |
676 | M>V | No |
ClinGen ExAC gnomAD |
|
rs759344240 CA391108441 |
677 | R>G | No |
ClinGen ExAC gnomAD |
|
CA391108446 rs1168969150 |
677 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs759344240 CA7364349 |
677 | R>W | No |
ClinGen ExAC gnomAD |
|
CA391108456 rs1403943869 |
678 | E>V | No |
ClinGen gnomAD |
|
CA7364353 rs371959467 |
679 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA391108478 rs757376765 |
679 | I>N | No |
ClinGen ExAC gnomAD |
|
CA7364352 rs757376765 |
679 | I>T | No |
ClinGen ExAC gnomAD |
|
rs752638401 CA7364351 |
679 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM88598 rs750729322 CA7364354 |
680 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA391108483 rs750729322 |
680 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756280202 CA7364355 |
680 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756280202 CA391108488 |
680 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 680 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA391108490 rs1354952202 |
681 | K>Q | No |
ClinGen gnomAD |
|
CA7364356 rs780268014 |
682 | V>A | No |
ClinGen ExAC gnomAD |
|
rs75106537 CA391108550 |
685 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs75106537 CA7364358 |
685 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1291335149 CA391108555 |
685 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1224859509 CA391108567 |
686 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs543183742 CA391108604 |
688 | C>* | No |
ClinGen ExAC gnomAD |
|
rs1194595551 CA391108622 |
689 | D>E | No |
ClinGen gnomAD |
|
rs771652517 CA7364361 |
689 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364362 rs771652517 |
689 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760433327 CA7364363 |
690 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA7364364 rs770501356 |
691 | E>K | No |
ClinGen ExAC |
|
rs895479982 CA267230345 |
692 | Q>* | No |
ClinGen gnomAD |
|
rs1472018882 CA391108658 |
693 | R>W | No |
ClinGen gnomAD |
|
rs776353754 CA7364365 |
695 | R>C | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs776353754 CA267230347 |
695 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759433768 CA7364366 |
695 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1382210903 CA391108737 |
699 | F>S | No |
ClinGen gnomAD |
|
CA391108768 rs1328068732 |
701 | V>D | No |
ClinGen gnomAD |
|
rs752727889 CA7364368 |
701 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs138666464 CA7364369 |
702 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3377347 rs373090711 COSM3377348 CA7364371 COSM3377349 |
703 | G>R | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA391108800 rs1259174506 |
704 | D>A | No |
ClinGen TOPMed gnomAD |
|
CA391108802 rs1259174506 |
704 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA7364372 rs756154872 |
704 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1259174506 CA391108804 |
704 | D>V | No |
ClinGen TOPMed gnomAD |
|
rs1350133881 CA391108837 |
707 | A>T | No |
ClinGen gnomAD |
|
rs766621599 CA7364373 |
707 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364375 rs755385444 |
708 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA391108867 rs1595984633 |
709 | N>T | No |
ClinGen Ensembl |
|
CA7364377 rs748756539 |
711 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
COSM200115 rs748756539 CA7364378 |
711 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1566954255 TCGA novel CA391108962 |
715 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs778283716 CA391108984 CA7364379 |
717 | V>L | No |
ClinGen ExAC gnomAD |
|
CA391109039 rs1169480899 |
721 | P>L | No |
ClinGen gnomAD |
|
TCGA novel | 724 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745488888 CA7364383 |
727 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA391109112 rs1454374842 |
728 | V>I | No |
ClinGen gnomAD |
|
rs1462480043 CA391109123 |
729 | R>Q | No |
ClinGen TOPMed |
|
CA7364385 rs775415963 |
729 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1239892759 CA391109139 |
730 | F>L | No |
ClinGen gnomAD |
|
CA7364387 rs763946087 |
733 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364388 rs201508144 |
734 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1462936818 CA391109211 |
736 | T>I | No |
ClinGen gnomAD |
|
rs760693719 CA7364389 |
736 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7364391 rs754100275 |
742 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA267230424 rs983388891 |
746 | K>E | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 746 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1365086062 CA391109344 |
747 | I>T | No |
ClinGen gnomAD |
|
CA7364393 rs376881340 |
749 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs181062547 CA267230432 |
752 | K>Q | No |
ClinGen 1000Genomes |
No associated diseases with P27448
6 regional properties for P27448
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 14 - 267 | IPR000719 |
domain | POLO box domain | 670 - 713 | IPR000959 |
active_site | Tyrosine-protein kinase, active site | 134 - 146 | IPR008266 |
binding_site | Protein kinase, ATP binding site | 20 - 43 | IPR017441 |
domain | Plk4, C-terminal polo-box domain | 657 - 738 | IPR033696 |
domain | Plk4, second cryptic polo-box domain | 498 - 602 | IPR033698 |
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 |
5 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
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. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
protein serine kinase activity | Catalysis of the reactions |
protein serine/threonine kinase activity | Catalysis of the reactions |
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 |
8 GO annotations of biological process
Name | Definition |
---|---|
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. |
negative regulation of hippo signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of hippo signaling. |
negative regulation of protein localization to nucleus | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus. |
peptidyl-serine autophosphorylation | The phosphorylation by a protein of one or more of its own serine amino acid residues, or a serine residue on an identical protein. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
22 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 |
Q7KZI7 | MARK2 | Serine/threonine-protein kinase MARK2 | Homo sapiens (Human) | SS |
Q96RG2 | PASK | PAS domain-containing serine/threonine-protein kinase | Homo sapiens (Human) | EV |
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 | |
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 |
Q8BRK8 | Prkaa2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Mus musculus (Mouse) | SS |
Q5EG47 | Prkaa1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Mus musculus (Mouse) | SS |
Q03141 | Mark3 | MAP/microtubule affinity-regulating kinase 3 | Mus musculus (Mouse) | SS |
O08678 | Mark1 | Serine/threonine-protein kinase MARK1 | Rattus norvegicus (Rat) | SS |
O08679 | Mark2 | Serine/threonine-protein kinase MARK2 | Rattus norvegicus (Rat) | SS |
Q8VHF0 | Mark3 | MAP/microtubule affinity-regulating kinase 3 | 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 |
MSTRTPLPTV | NERDTENHTS | HGDGRQEVTS | RTSRSGARCR | NSIASCADEQ | PHIGNYRLLK |
70 | 80 | 90 | 100 | 110 | 120 |
TIGKGNFAKV | KLARHILTGR | EVAIKIIDKT | QLNPTSLQKL | FREVRIMKIL | NHPNIVKLFE |
130 | 140 | 150 | 160 | 170 | 180 |
VIETEKTLYL | IMEYASGGEV | FDYLVAHGRM | KEKEARSKFR | QIVSAVQYCH | QKRIVHRDLK |
190 | 200 | 210 | 220 | 230 | 240 |
AENLLLDADM | NIKIADFGFS | NEFTVGGKLD | TFCGSPPYAA | PELFQGKKYD | GPEVDVWSLG |
250 | 260 | 270 | 280 | 290 | 300 |
VILYTLVSGS | LPFDGQNLKE | LRERVLRGKY | RIPFYMSTDC | ENLLKRFLVL | NPIKRGTLEQ |
310 | 320 | 330 | 340 | 350 | 360 |
IMKDRWINAG | HEEDELKPFV | EPELDISDQK | RIDIMVGMGY | SQEEIQESLS | KMKYDEITAT |
370 | 380 | 390 | 400 | 410 | 420 |
YLLLGRKSSE | LDASDSSSSS | NLSLAKVRPS | SDLNNSTGQS | PHHKVQRSVS | SSQKQRRYSD |
430 | 440 | 450 | 460 | 470 | 480 |
HAGPAIPSVV | AYPKRSQTST | ADSDLKEDGI | SSRKSSGSAV | GGKGIAPASP | MLGNASNPNK |
490 | 500 | 510 | 520 | 530 | 540 |
ADIPERKKSS | TVPSSNTASG | GMTRRNTYVC | SERTTADRHS | VIQNGKENST | IPDQRTPVAS |
550 | 560 | 570 | 580 | 590 | 600 |
THSISSAATP | DRIRFPRGTA | SRSTFHGQPR | ERRTATYNGP | PASPSLSHEA | TPLSQTRSRG |
610 | 620 | 630 | 640 | 650 | 660 |
STNLFSKLTS | KLTRRNMSFR | FIKRLPTEYE | RNGRYEGSSR | NVSAEQKDEN | KEAKPRSLRF |
670 | 680 | 690 | 700 | 710 | 720 |
TWSMKTTSSM | DPGDMMREIR | KVLDANNCDY | EQRERFLLFC | VHGDGHAENL | VQWEMEVCKL |
730 | 740 | 750 | |||
PRLSLNGVRF | KRISGTSIAF | KNIASKIANE | LKL |