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

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
  • Cell membrane ; Peripheral membrane protein
  • Cell projection, dendrite
  • Cytoplasm
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