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

59-310 (Protein kinase domain)

Relief mechanism

Others

Assay

Accessory elements

198-220 (Activation loop from InterPro)

Target domain

59-310 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

3 structures for Q96L34

Entry ID Method Resolution Chain Position Source
5ES1 X-ray 280 A A 44-370 PDB
8XFL X-ray 300 A A/B 44-370 PDB
AF-Q96L34-F1 Predicted AlphaFoldDB

541 variants for Q96L34

Variant ID(s) Position Change Description Diseaes Association Provenance
rs776034001
CA9510736
5 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA9510738
rs764522470
8 A>T No ClinGen
ExAC
rs765601545
CA308950046
9 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9510741
rs765601545
9 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs762115064
CA9510740
9 P>S No ClinGen
ExAC
gnomAD
CA9510743
rs758622248
10 G>S No ClinGen
ExAC
gnomAD
rs1233457397
CA406340012
11 N>K No ClinGen
TOPMed
rs767552399
CA9510744
11 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA406340014
rs1268869960
12 D>N No ClinGen
gnomAD
rs1331054790
CA406340040
15 S>L No ClinGen
gnomAD
rs1277909022
CA406340054
17 T>M No ClinGen
TOPMed
gnomAD
rs752538573
CA9510763
18 H>R No ClinGen
ExAC
gnomAD
TCGA novel 19 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406341894
rs1467649062
20 T>A No ClinGen
TOPMed
CA308956773
rs760686813
20 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9510764
rs760686813
20 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs766196910
CA308956780
23 S>I No ClinGen
Ensembl
COSM1686288
COSM1686289
CA9510765
rs547487115
25 R>C skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA406341943
rs547487115
25 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9510766
rs143817847
25 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757101512
CA9510767
26 S>P No ClinGen
ExAC
gnomAD
rs778478961
CA9510768
27 S>L No ClinGen
ExAC
gnomAD
rs1423133877
CA406341959
27 S>P No ClinGen
TOPMed
gnomAD
CA406341975
rs1599778190
28 D>G No ClinGen
Ensembl
rs779634872
CA9510771
29 K>E No ClinGen
ExAC
gnomAD
rs536838942
CA308956814
30 G>A No ClinGen
1000Genomes
gnomAD
CA9510772
rs200047371
30 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406341991
rs536838942
30 G>V No ClinGen
1000Genomes
gnomAD
rs1181867140
COSM1129790
CA406342002
31 P>L Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1568490052
CA406341996
31 P>S No ClinGen
Ensembl
CA308956845
rs893023482
32 S>F No ClinGen
TOPMed
rs1253802185
CA406342007
32 S>P No ClinGen
TOPMed
CA406342031
rs1599778224
34 S>A No ClinGen
Ensembl
rs781613152
CA406342043
35 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA9510775
rs781613152
35 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA9510776
rs748513050
36 R>C No ClinGen
ExAC
gnomAD
rs770299929
CA9510777
36 R>L No ClinGen
ExAC
gnomAD
rs770299929
CA406342053
36 R>P No ClinGen
ExAC
gnomAD
CA9510780
rs770869019
39 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs774468821
CA9510781
40 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9510782
rs759575925
41 R>C No ClinGen
ExAC
gnomAD
rs944493070
CA308956885
41 R>H No ClinGen
TOPMed
gnomAD
CA9510783
rs764078045
42 C>W No ClinGen
ExAC
gnomAD
CA9510785
rs201262565
43 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9510784
rs753786354
43 R>W No ClinGen
ExAC
CA9510786
rs765045934
45 S>C No ClinGen
ExAC
gnomAD
CA9510789
rs758021513
47 A>S No ClinGen
ExAC
TOPMed
gnomAD
COSM1750973
COSM1750974
CA9510788
rs758021513
47 A>T urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA406342181
rs754507921
51 E>* No ClinGen
ExAC
gnomAD
COSM3823405
COSM3823406
rs754507921
CA9510791
51 E>K Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA308956945
rs764644423
53 Q>H No ClinGen
gnomAD
CA9510793
rs748672133
54 P>S No ClinGen
ExAC
gnomAD
CA9510795
COSM998156
COSM1590144
rs778306514
56 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA9510797
rs771153722
60 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9510798
rs774505246
60 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs774505246
CA406342245
60 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs888057141
CA308956975
65 I>T No ClinGen
Ensembl
rs1157095034
CA406342299
69 N>S No ClinGen
gnomAD
rs1387750050
CA406342307
70 F>S No ClinGen
gnomAD
rs1380372619
CA406342313
71 A>S No ClinGen
gnomAD
CA9510800
rs772048704
72 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 75 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139770233
CA308956994
77 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139770233
CA9510802
77 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 77 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765205181
CA9510803
79 I>V No ClinGen
ExAC
gnomAD
rs766037732
CA9510806
82 G>A No ClinGen
ExAC
gnomAD
rs751188496
CA9510807
83 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1013318216
CA308957021
83 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 84 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1396676671
CA406342425
87 I>M No ClinGen
TOPMed
gnomAD
CA308960621
rs57927646
88 K>E No ClinGen
Ensembl
rs1307019708
CA406342435
89 I>S No ClinGen
gnomAD
CA9510825
rs201439573
89 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1443710354
CA406342446
91 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1599780703
CA406342462
93 T>P No ClinGen
Ensembl
CA9510827
rs369856550
94 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9510828
rs755754212
99 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA406342509
rs1386706763
100 L>M No ClinGen
gnomAD
CA406342522
rs1304549957
102 K>Q No ClinGen
gnomAD
rs1274946963
CA406342554
104 F>L No ClinGen
gnomAD
rs1181776226
CA406342574
108 R>C No ClinGen
TOPMed
rs750744530
CA9510850
108 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758818170
CA9510851
109 I>V No ClinGen
ExAC
gnomAD
CA406342644
rs1292504832
118 I>V No ClinGen
TOPMed
rs1227932659
CA406342708
125 I>T No ClinGen
gnomAD
rs1410956211
CA406342730
128 E>D No ClinGen
TOPMed
rs756689817
CA308962376
128 E>K No ClinGen
Ensembl
rs781520471
CA9510873
130 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA406342795
rs1482425171
138 A>T No ClinGen
gnomAD
CA406342876
rs1289943426
148 V>M No ClinGen
TOPMed
gnomAD
rs756211354
CA9510901
149 S>L Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406342892
rs1363924890
150 H>R No ClinGen
gnomAD
CA9510904
rs373067738
152 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA308962822
rs866208477
152 R>H No ClinGen
Ensembl
rs759837890
TCGA novel
CA9510906
153 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
TCGA novel 159 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs565736296
CA9510907
159 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1273080625
CA406342978
163 R>* No ClinGen
gnomAD
COSM1394564
COSM1394563
CA9510924
rs534682723
167 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs775891258
CA9510926
169 V>M No ClinGen
ExAC
gnomAD
CA406343071
rs768910204
175 K>E No ClinGen
ExAC
gnomAD
rs768910204
CA9510928
175 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 176 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1418680771
CA406343087
177 I>V No ClinGen
gnomAD
CA9510929
rs777001749
181 D>E No ClinGen
ExAC
gnomAD
TCGA novel 183 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1392491632
CA406343187
189 L>P No ClinGen
gnomAD
CA9510949
rs770193332
190 D>E No ClinGen
ExAC
gnomAD
rs767481098
CA9510952
192 E>G No ClinGen
ExAC
gnomAD
rs572492438
CA9510951
192 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA406343223
rs1456231301
195 I>V No ClinGen
TOPMed
CA308969273
rs1010263943
197 I>T No ClinGen
TOPMed
CA308969306
rs12460449
205 E>Q No ClinGen
Ensembl
TCGA novel 206 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9510956
rs753441567
207 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs968227279
CA308969325
207 T>M No ClinGen
TOPMed
gnomAD
CA406343330
rs1169062430
210 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1463128184
CA406343350
213 D>E No ClinGen
gnomAD
CA406343405
rs1358790851
221 Y>C No ClinGen
TOPMed
gnomAD
CA308969365
rs866503314
222 A>V No ClinGen
Ensembl
rs1328035585
CA406343424
224 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 228 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9510964
rs781671493
230 K>E No ClinGen
ExAC
gnomAD
rs748565950
CA9510965
231 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA9510967
rs773367969
233 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA406343489
rs1447493288
COSM1286102
COSM1286101
234 G>R Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1599786294
CA406343514
237 V>G No ClinGen
Ensembl
rs1169047957
CA406343542
241 S>N No ClinGen
TOPMed
COSM998162
CA9510973
rs764069402
COSM1153397
244 V>F endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA9510972
rs764069402
244 V>L No ClinGen
ExAC
gnomAD
CA406343582
rs1599786329
248 T>P No ClinGen
Ensembl
rs750047588
CA9510976
250 V>I No ClinGen
ExAC
gnomAD
CA406343608
rs1568494506
252 G>S No ClinGen
Ensembl
TCGA novel 253 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765826413
CA9510978
254 L>P No ClinGen
ExAC
gnomAD
CA406343641
rs1216363548
255 P>L No ClinGen
gnomAD
rs777985280
CA9510984
258 G>E No ClinGen
ExAC
gnomAD
COSM2149374
rs1033007935
CA308931642
COSM2149375
265 R>Q Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1375220874
CA406345559
267 R>* No ClinGen
gnomAD
CA406345560
rs1231877137
267 R>Q No ClinGen
gnomAD
TCGA novel 272 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406345604
rs1383296490
274 R>G No ClinGen
TOPMed
rs1348192931
CA406345606
274 R>Q No ClinGen
gnomAD
rs374169232
CA9511016
275 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374169232
CA308931646
275 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1436781474
CA406345619
277 F>I No ClinGen
gnomAD
rs1181712866
CA406345632
278 Y>C No ClinGen
gnomAD
rs1234006879
CA406345645
280 S>T No ClinGen
gnomAD
rs1441904414
CA406345651
281 T>A No ClinGen
gnomAD
CA9511019
rs770478941
286 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA406345726
rs1193850502
292 V>M No ClinGen
TOPMed
CA308931651
rs1028846573
298 R>S No ClinGen
Ensembl
rs568500500
CA9511022
302 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs568500500
CA9511023
302 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777505581
CA9511052
312 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1425861201
CA406346554
313 G>S No ClinGen
gnomAD
CA308931870
rs991460032
315 E>D No ClinGen
gnomAD
TCGA novel 320 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745701249
CA9511056
323 T>A No ClinGen
ExAC
gnomAD
CA9511058
rs775293247
326 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA406346767
rs1382449232
327 E>K No ClinGen
gnomAD
CA406346806
rs1599791159
330 G>R No ClinGen
Ensembl
CA9511060
rs201594646
331 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs372438669
CA308931886
332 T>N No ClinGen
ESP
TOPMed
gnomAD
rs377009401
CA9511062
334 R>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1419404121
CA406347174
337 V>M No ClinGen
gnomAD
rs1044748141
CA308932426
338 M>I No ClinGen
TOPMed
rs370351779
CA9511092
341 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406347305
rs767675987
344 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9511094
rs767675987
344 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA406347319
rs147096694
345 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147096694
CA9511097
345 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760897998
CA9511096
345 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750413952
CA9511098
346 E>D No ClinGen
ExAC
gnomAD
CA406347370
rs1396436634
347 E>D No ClinGen
gnomAD
CA406347410
rs1388702200
349 K>E No ClinGen
TOPMed
rs1160826661
CA406347442
350 E>Q No ClinGen
TOPMed
rs1599792242
CA406347460
351 S>P No ClinGen
Ensembl
CA406347504
rs1311917866
353 T>P No ClinGen
gnomAD
rs758214414
CA9511099
354 S>N No ClinGen
ExAC
gnomAD
rs1233824784
CA406347548
CA406347551
354 S>R No ClinGen
TOPMed
gnomAD
CA406347573
rs1302324590
355 Q>R No ClinGen
gnomAD
CA9511101
rs779872451
356 K>N No ClinGen
ExAC
gnomAD
CA9511102
rs754653981
357 Y>D No ClinGen
ExAC
gnomAD
rs1200233771
CA406347745
361 T>N No ClinGen
gnomAD
rs778215022
CA9511107
369 R>G No ClinGen
ExAC
gnomAD
CA308932467
rs897629217
370 K>T No ClinGen
TOPMed
rs771477599
CA9511108
371 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1428874460
CA406348808
374 G>C No ClinGen
gnomAD
CA9511130
rs747208586
375 G>E No ClinGen
ExAC
CA9511129
CA406348841
rs775804180
375 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA9511131
rs769036242
376 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA9511132
rs776846141
376 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs35070611
CA9511135
377 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9511134
VAR_040766
rs35070611
377 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
UniProt
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs762042850
CA9511133
377 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs752537511
CA9511138
379 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA406348936
rs1166918249
380 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs911141339
CA308932569
380 P>S No ClinGen
Ensembl
rs771693942
CA9511139
381 G>V No ClinGen
ExAC
gnomAD
CA406348992
rs1263505330
383 A>P No ClinGen
gnomAD
rs1263505330
CA406348990
383 A>S No ClinGen
gnomAD
rs922306204
CA308932583
386 R>Q No ClinGen
TOPMed
gnomAD
CA9511140
rs553814643
386 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406349058
rs1255343271
387 V>M No ClinGen
TOPMed
CA406349092
rs768263726
388 R>P No ClinGen
ExAC
gnomAD
CA9511142
rs768263726
388 R>Q No ClinGen
ExAC
gnomAD
CA9511141
rs753337213
388 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9511143
rs779413121
389 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1399365099
CA406349140
390 P>S No ClinGen
gnomAD
CA9511145
rs369919934
391 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs562431271
CA9511148
392 D>H No ClinGen
ExAC
gnomAD
rs562431271
CA9511147
392 D>N No ClinGen
ExAC
gnomAD
rs1224773186
CA406349222
394 T>P No ClinGen
TOPMed
CA9511149
rs777005812
394 T>S No ClinGen
ExAC
gnomAD
CA406349255
rs1306626778
395 N>I No ClinGen
TOPMed
rs144143514
CA406349263
395 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9511151
CA9511152
rs181363063
396 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1229552843
CA406349318
397 T>A No ClinGen
TOPMed
rs1285949131
CA406349327
398 S>G No ClinGen
gnomAD
rs759369644
CA9511153
398 S>T No ClinGen
ExAC
gnomAD
CA406349430
rs1286224327
402 G>A No ClinGen
gnomAD
rs1286224327
CA406349433
402 G>V No ClinGen
gnomAD
CA9511155
rs775263734
403 T>P No ClinGen
ExAC
gnomAD
CA9511156
rs760525141
405 H>Y No ClinGen
ExAC
gnomAD
CA406349504
rs1363518222
406 S>N No ClinGen
Ensembl
CA406349556
rs1442561413
408 G>R No ClinGen
gnomAD
COSM116823
rs756740251
COSM1564359
CA9511159
410 R>Q ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9511158
rs753496642
410 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs749985213
CA9511161
415 T>A No ClinGen
ExAC
gnomAD
CA308932626
rs749985213
415 T>S No ClinGen
ExAC
gnomAD
rs758823777
CA9511162
416 Y>C No ClinGen
ExAC
gnomAD
VAR_040767
rs780763668
COSM20391
CA9511165
418 R>C large_intestine a colorectal adenocarcinoma sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
ExAC
dbSNP
gnomAD
CA9511166
COSM1214581
COSM190843
rs755396651
418 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9511164
COSM1564358
COSM1564357
rs780763668
418 R>S large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 419 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406349859
rs1296870778
420 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
COSM1214580
COSM1214579
rs1336065779
CA406349870
420 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA406349862
rs1336065779
420 R>L No ClinGen
TOPMed
gnomAD
rs781523807
CA406349950
423 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA406349960
rs1441157638
424 D>N No ClinGen
TOPMed
gnomAD
CA9511181
rs749883970
427 G>S No ClinGen
ExAC
gnomAD
CA406351615
rs1201016192
429 S>F No ClinGen
gnomAD
CA406351628
rs1240427247
431 A>P No ClinGen
TOPMed
gnomAD
rs1240427247
CA406351630
431 A>S No ClinGen
TOPMed
gnomAD
rs1477561155
CA406351638
431 A>V No ClinGen
gnomAD
rs762538035
CA9511182
432 P>A No ClinGen
ExAC
gnomAD
CA406351645
rs1568500532
432 P>L No ClinGen
Ensembl
CA406351672
rs1157433914
434 H>L No ClinGen
TOPMed
rs865820710
CA308935680
434 H>N No ClinGen
Ensembl
CA406351705
rs1379873999
436 K>N No ClinGen
TOPMed
CA9511184
rs752141498
437 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA308935710
rs954745201
437 R>H No ClinGen
TOPMed
CA406351709
rs954745201
437 R>L No ClinGen
TOPMed
CA406351715
rs1162441471
438 S>T No ClinGen
gnomAD
CA9511185
rs755345178
439 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1412059953
CA406351729
440 T>A No ClinGen
gnomAD
rs753148066
CA406351735
440 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs753148066
CA9511187
440 T>M No ClinGen
ExAC
TOPMed
gnomAD
COSM1394572
CA9511189
rs778118260
COSM1394571
442 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406351806
rs547448729
445 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1265240901
CA406351799
445 A>T No ClinGen
gnomAD
rs547448729
CA9511192
445 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs979192616
CA308935746
447 L>V No ClinGen
TOPMed
gnomAD
rs1194519624
CA406351903
449 E>D No ClinGen
gnomAD
CA406351914
rs1265165331
450 E>G No ClinGen
gnomAD
CA406351910
rs1356396444
450 E>K No ClinGen
gnomAD
COSM1394574
rs1039550856
CA308935762
COSM1394573
451 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA406351925
rs1186826614
451 R>W No ClinGen
TOPMed
gnomAD
rs761721413
CA9511196
454 G>A No ClinGen
ExAC
gnomAD
rs1459282233
CA406351958
454 G>S No ClinGen
gnomAD
rs761721413
CA406351970
454 G>V No ClinGen
ExAC
gnomAD
CA9511198
rs144227300
455 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202113425
CA9511197
455 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9511199
rs377173611
457 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA406352043
rs1413458717
459 C>R No ClinGen
TOPMed
gnomAD
CA308935779
rs1057193981
459 C>Y No ClinGen
TOPMed
CA9511201
rs549577494
462 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9511202
rs375594459
462 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1353268937
CA406352114
463 G>E No ClinGen
gnomAD
rs569559385
CA9511204
464 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA406352140
rs1484768311
465 G>R No ClinGen
TOPMed
gnomAD
rs1216041814
CA406352167
466 S>R No ClinGen
TOPMed
rs1047483446
CA308935820
467 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs756518643
CA9511205
467 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1369037663
CA406352217
470 P>A No ClinGen
TOPMed
gnomAD
CA406352214
rs1369037663
470 P>T No ClinGen
TOPMed
gnomAD
rs764159321
CA406352225
471 P>A No ClinGen
ExAC
gnomAD
rs757281634
CA406352235
471 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs757281634
CA9511208
471 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs764159321
CA9511207
471 P>S Variant assessed as Somatic; 5.103e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764159321
CA9511206
471 P>T No ClinGen
ExAC
gnomAD
TCGA novel 472 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1037811811
CA308935837
472 S>P No ClinGen
TOPMed
CA406352242
rs1037811811
472 S>T No ClinGen
TOPMed
TCGA novel 473 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1171117247
CA406352305
475 M>I No ClinGen
TOPMed
CA406352299
rs1163088116
475 M>T No ClinGen
gnomAD
rs778930505
CA9511209
478 S>G No ClinGen
ExAC
gnomAD
rs1373064843
CA406352339
478 S>T No ClinGen
gnomAD
rs1302730305
CA406352352
479 A>S No ClinGen
gnomAD
CA406352364
rs1403582046
480 H>Y No ClinGen
gnomAD
CA9511211
rs754891876
483 N>S No ClinGen
ExAC
gnomAD
TCGA novel 483 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781198705
CA9511212
485 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA406352456
rs1255703084
488 P>A No ClinGen
TOPMed
CA406352474
rs369776865
489 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150856880
CA9511217
490 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9511216
rs748925785
490 R>W No ClinGen
ExAC
gnomAD
CA9511218
rs773994218
491 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA406352485
rs1193799588
491 R>W No ClinGen
gnomAD
rs1305515142
CA406352499
492 K>R No ClinGen
TOPMed
rs759177245
CA9511219
494 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs767858037
CA9511220
495 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs776071313
CA9511221
496 S>N No ClinGen
ExAC
gnomAD
rs760911941
CA9511222
496 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA406352554
rs868136934
498 P>A No ClinGen
TOPMed
gnomAD
rs868136934
CA308935891
498 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 499 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406353240
rs1441573307
501 L>F No ClinGen
gnomAD
CA406353266
rs1424301162
503 P>L No ClinGen
TOPMed
gnomAD
rs1424301162
CA406353264
503 P>R No ClinGen
TOPMed
gnomAD
rs1170896099
CA406353261
503 P>S No ClinGen
gnomAD
rs1245048103
CA406353275
504 S>N No ClinGen
TOPMed
rs963161094
CA308939290
504 S>R No ClinGen
TOPMed
TCGA novel 506 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406353323
rs201397444
507 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201397444
CA9511268
507 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs900545702
CA308939298
508 R>C No ClinGen
gnomAD
CA9511269
rs763202566
508 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 512 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1210551803
CA406353409
513 V>I No ClinGen
TOPMed
rs1599802465
CA406353436
515 T>A No ClinGen
Ensembl
rs372480258
CA9511271
517 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs554206425
CA9511272
517 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA9511274
rs144086640
518 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9511273
rs764057922
518 P>S No ClinGen
ExAC
gnomAD
rs778833911
CA9511276
520 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs778833911
CA9511277
520 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1015510362
CA308939321
521 E>G No ClinGen
Ensembl
CA406353562
rs1265597749
522 R>C No ClinGen
TOPMed
gnomAD
rs146014354
CA9511278
522 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9511280
rs771693803
523 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1416347061
CA406353649
526 L>F No ClinGen
TOPMed
CA308939341
rs201834748
527 P>S No ClinGen
gnomAD
rs773561008
CA9511285
529 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA406353738
rs1421416914
531 E>G No ClinGen
TOPMed
gnomAD
CA9511287
rs139967935
532 N>D No ClinGen
ESP
ExAC
gnomAD
CA406353774
rs774443076
533 S>C No ClinGen
ExAC
gnomAD
CA9511288
rs774443076
533 S>R No ClinGen
ExAC
gnomAD
rs760846965
CA9511310
534 S>P No ClinGen
ExAC
gnomAD
CA9511314
rs552947392
536 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1599804971
CA406354773
536 T>P No ClinGen
Ensembl
CA9511313
rs552947392
536 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1488026174
CA406354803
537 P>A No ClinGen
gnomAD
CA9511315
rs751408917
537 P>L No ClinGen
ExAC
gnomAD
CA308940494
rs1045474061
538 R>Q No ClinGen
TOPMed
gnomAD
CA308940492
rs928807888
538 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA406354913
rs1446072679
541 P>L No ClinGen
gnomAD
CA308940496
rs926860553
542 A>V No ClinGen
TOPMed
gnomAD
rs1599805036
CA406354931
543 S>P No ClinGen
Ensembl
rs1419833516
CA406354946
544 P>T No ClinGen
gnomAD
CA406354973
rs1387816086
545 S>F No ClinGen
TOPMed
gnomAD
CA308940497
rs989448872
548 S>R No ClinGen
Ensembl
CA406355147
rs778304169
551 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs374997070
CA308940499
551 P>L No ClinGen
ESP
TOPMed
gnomAD
CA9511320
rs778304169
551 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1307407485
CA406355153
552 P>A No ClinGen
gnomAD
CA406355157
rs1353012949
552 P>Q No ClinGen
gnomAD
rs1307407485
CA406355154
552 P>S No ClinGen
gnomAD
rs1262346080
CA406355173
553 S>P No ClinGen
gnomAD
CA406355195
rs1342807435
554 G>R No ClinGen
gnomAD
rs1555767349
CA406355202
554 G>V No ClinGen
Ensembl
rs1342807435
CA406355194
554 G>W No ClinGen
gnomAD
CA406355228
rs1555767350
555 E>D No ClinGen
Ensembl
CA9511322
rs757834794
556 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs749782930
CA9511321
556 R>W No ClinGen
ExAC
gnomAD
CA308940501
rs947367859
557 S>N No ClinGen
Ensembl
rs779119139
CA9511323
558 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs746305472
CA9511324
558 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA9511325
rs772358301
560 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA406355349
rs1160662525
560 A>V No ClinGen
gnomAD
rs775855591
CA9511326
561 R>C No ClinGen
ExAC
gnomAD
rs1172545611
CA406355356
561 R>H No ClinGen
gnomAD
rs1172545611
CA406355358
561 R>L No ClinGen
gnomAD
rs776819644
CA9511330
562 G>A No ClinGen
ExAC
gnomAD
rs768638967
CA9511328
562 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs776819644
CA9511329
562 G>V No ClinGen
ExAC
gnomAD
CA9511331
rs770967713
565 I>V No ClinGen
ExAC
gnomAD
CA406355453
rs1391975984
COSM1394575
COSM1394576
566 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1309226953
CA406355454
566 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1232406023
CA406355499
567 S>R No ClinGen
gnomAD
CA406355578
rs1325360947
570 H>R No ClinGen
gnomAD
rs1457945248
CA406355622
572 G>D No ClinGen
gnomAD
CA9511334
rs555456890
572 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA9511336
rs760132221
575 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs752380003
CA9511335
575 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA9511338
rs575765166
577 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA9511337
rs763492742
577 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs867551302
CA308940507
578 R>L No ClinGen
gnomAD
rs867551302
CA406355731
578 R>Q No ClinGen
gnomAD
CA406355728
rs1168996493
578 R>W No ClinGen
gnomAD
CA406355761
rs1462687396
579 A>G No ClinGen
TOPMed
gnomAD
CA406355748
rs1165074322
579 A>T No ClinGen
TOPMed
CA406355764
rs1462687396
579 A>V No ClinGen
TOPMed
gnomAD
CA406355809
rs1411050968
581 G>V No ClinGen
TOPMed
rs1365552587
CA406355813
582 G>R No ClinGen
TOPMed
gnomAD
rs1365552587
CA406355817
582 G>W No ClinGen
TOPMed
gnomAD
rs1018372761
CA406355921
586 G>D No ClinGen
TOPMed
gnomAD
CA308940521
rs1018372761
586 G>V No ClinGen
TOPMed
gnomAD
rs1263336067
CA406355947
587 V>A No ClinGen
gnomAD
CA406356104
rs1487849062
595 P>S No ClinGen
gnomAD
rs1487849062
CA406356098
595 P>T No ClinGen
gnomAD
rs1270152171
CA406356144
597 L>P No ClinGen
gnomAD
CA406356149
rs1223181986
598 A>S No ClinGen
TOPMed
gnomAD
CA308940524
rs12972277
601 A>D No ClinGen
gnomAD
CA406356217
rs12972277
601 A>V No ClinGen
gnomAD
rs201889023
CA308940528
606 A>T No ClinGen
1000Genomes
TOPMed
gnomAD
rs376422468
CA308940530
607 G>R No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 607 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1398035769
CA406356346
608 R>L No ClinGen
TOPMed
gnomAD
rs1398035769
CA406356351
608 R>Q No ClinGen
TOPMed
gnomAD
CA308940533
rs956531909
608 R>W No ClinGen
TOPMed
gnomAD
CA9511347
rs781125990
609 P>L No ClinGen
ExAC
gnomAD
rs540971776
CA9511346
609 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs560177223
CA308940537
610 R>C No ClinGen
1000Genomes
TOPMed
gnomAD
CA9511348
rs200675001
610 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA308940540
rs200675001
610 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA406356413
rs1487047558
612 T>I No ClinGen
gnomAD
CA406356402
rs1293310751
612 T>P No ClinGen
gnomAD
CA406356421
rs1215060811
613 T>I No ClinGen
gnomAD
rs1426361859
CA406356483
618 K>R No ClinGen
TOPMed
rs770715812
CA406356556
625 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA9511349
rs770715812
625 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9511416
rs747962450
628 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA406357342
rs1426025093
628 A>T No ClinGen
gnomAD
rs777582208
CA9511418
630 E>K No ClinGen
ExAC
gnomAD
COSM1148209
rs1360769623
CA406357405
632 E>Q lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA406357431
rs1453317406
634 I>V No ClinGen
gnomAD
rs770596158
CA9511420
635 G>R No ClinGen
ExAC
gnomAD
rs760065314
CA9511422
639 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs957282680
CA308941280
640 T>I No ClinGen
Ensembl
rs772511341
CA9511423
641 S>C No ClinGen
ExAC
gnomAD
TCGA novel 641 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1462371282
CA406358067
642 C>G No ClinGen
gnomAD
CA9511441
rs772561382
643 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs202029642
CA9511442
645 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406358149
rs1419206065
647 D>N No ClinGen
gnomAD
rs760976192
CA9511443
648 Q>E No ClinGen
ExAC
gnomAD
rs760976192
CA406358168
648 Q>K No ClinGen
ExAC
gnomAD
rs142546580
CA308942198
649 T>M No ClinGen
ESP
TOPMed
gnomAD
rs768981596
CA9511444
652 A>T No ClinGen
ExAC
TOPMed
CA9511445
rs777033275
652 A>V No ClinGen
ExAC
gnomAD
CA406358253
rs1471058645
653 P>A No ClinGen
gnomAD
CA9511447
rs762012816
654 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs750452926
CA406358280
654 R>L No ClinGen
ExAC
gnomAD
rs1568505994 654 R>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA406358277
rs750452926
654 R>P No ClinGen
ExAC
gnomAD
rs750452926
CA9511448
654 R>Q No ClinGen
ExAC
gnomAD
CA9511446
rs762012816
654 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs767440439
CA9511450
657 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA308942235
rs987880072
658 F>L No ClinGen
TOPMed
gnomAD
rs935010174
CA308942232
658 F>L No ClinGen
Ensembl
CA9511451
rs752713604
659 P>L No ClinGen
ExAC
gnomAD
rs752713604
CA9511452
659 P>R No ClinGen
ExAC
gnomAD
CA406358390
rs1325473245
660 W>R No ClinGen
gnomAD
rs562298714
CA9511454
661 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs147585056
CA9511455
663 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9511457
rs745321890
667 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745321890
CA308942250
667 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs757865152
CA9511458
668 R>C No ClinGen
ExAC
gnomAD
CA406358532
rs1490001627
668 R>L No ClinGen
gnomAD
rs1051047141
CA308942267
674 M>I No ClinGen
TOPMed
gnomAD
rs769212607
CA9511461
675 A>G No ClinGen
ExAC
gnomAD
rs747496129
CA9511460
675 A>T No ClinGen
ExAC
gnomAD
CA406358648
rs1599809382
676 A>G No ClinGen
Ensembl
CA9511462
rs776978146
678 R>C No ClinGen
ExAC
gnomAD
rs200323133
CA308942280
678 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200323133
CA9511463
678 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA308942282
rs200323133
678 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406358699
rs1363867319
680 A>T No ClinGen
gnomAD
rs773329195
CA406358725
682 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA9511465
rs773329195
682 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs763049576
CA9511466
683 A>V No ClinGen
ExAC
gnomAD
CA9511470
rs760675146
684 A>S No ClinGen
ExAC
gnomAD
rs760675146
CA9511469
684 A>T No ClinGen
ExAC
gnomAD
CA406358781
rs1263131437
685 R>H No ClinGen
gnomAD
CA9511472
rs753618561
685 R>S No ClinGen
ExAC
gnomAD
CA9511474
rs764890978
687 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA406358823
rs764890978
687 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs750069517
COSM3389134
CA9511475
687 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA9511476
rs758123143
688 C>Y No ClinGen
ExAC
gnomAD
rs576984498
CA9511477
689 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs200016116
CA406358881
689 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs200016116
CA9511478
689 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1249876214
CA406358894
690 Q>P No ClinGen
TOPMed
rs1383436415
CA406358939
692 Q>H No ClinGen
TOPMed
gnomAD
rs1424123919
CA406358955
693 P>L No ClinGen
TOPMed
gnomAD
rs1424123919
CA406358953
693 P>R No ClinGen
TOPMed
gnomAD
rs781675616
CA9511480
697 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA406359036
rs1428616960
698 C>R No ClinGen
gnomAD
rs1568506124
CA406359054
700 H>Y No ClinGen
Ensembl
TCGA novel 701 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9511482
rs770088036
701 G>R No ClinGen
ExAC
gnomAD
CA406359080
rs770088036
701 G>W No ClinGen
ExAC
gnomAD
rs1246076455
CA406359147
705 G>R No ClinGen
gnomAD
rs1293063645
CA406359176
706 P>L No ClinGen
gnomAD
rs867443854
CA308942384
707 E>D No ClinGen
gnomAD
CA9511486
rs774567252
709 L>P No ClinGen
ExAC
gnomAD
rs1394484655
CA406359288
714 V>L No ClinGen
TOPMed
rs1430302829
CA406359304
715 E>A No ClinGen
TOPMed
gnomAD
CA308942399
rs528738026
721 R>W No ClinGen
1000Genomes
TOPMed
gnomAD
CA406359396
rs1387231134
724 L>F No ClinGen
TOPMed
gnomAD
CA308942401
rs548639038
725 R>Q No ClinGen
1000Genomes
TOPMed
gnomAD
rs377118473
CA9511490
725 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 726 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759055622
CA308942405
726 G>V No ClinGen
TOPMed
gnomAD
CA406359405
rs1345512120
727 V>I No ClinGen
TOPMed
gnomAD
rs764906559
CA9511491
728 L>F No ClinGen
ExAC
gnomAD
rs911207807
CA308942410
729 F>L No ClinGen
TOPMed
CA308942411
rs942736550
730 R>C No ClinGen
TOPMed
gnomAD
rs942736550
CA406359424
730 R>G No ClinGen
TOPMed
gnomAD
CA9511492
rs750295541
730 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs750295541
CA406359426
730 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1452994599
CA406359430
731 R>H No ClinGen
gnomAD
rs762512606
CA9511493
733 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1222546698
CA406359454
734 G>D No ClinGen
gnomAD
rs1599809635
CA406359490
737 L>P No ClinGen
Ensembl
CA406359514
rs1304598414
739 F>C No ClinGen
TOPMed
rs956355737
CA308942425
740 R>C No ClinGen
TOPMed
gnomAD
rs764702156
CA9511496
740 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1461034039
CA406359539
741 T>I No ClinGen
gnomAD
CA9511497
rs781635730
742 L>F No ClinGen
ExAC
gnomAD
rs1468687522
CA406359554
743 V>I No ClinGen
gnomAD
CA406359581
rs1408629043
745 R>C No ClinGen
TOPMed
gnomAD
rs1053052298
CA308942441
745 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1599809687
CA406359602
747 S>P No ClinGen
Ensembl
CA9511499
rs756693005
748 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA308942447
rs914966258
749 D>N No ClinGen
TOPMed
gnomAD
CA308942451
rs530446825
751 E>K No ClinGen
1000Genomes
gnomAD

No associated diseases with Q96L34

16 regional properties for Q96L34

Type Name Position InterPro Accession
domain C2 domain 1579 - 1695 IPR000008
domain Dbl homology (DH) domain 1237 - 1423 IPR000219
domain EH domain 14 - 108 IPR000261-1
domain EH domain 214 - 310 IPR000261-2
conserved_site Guanine-nucleotide dissociation stimulator, CDC24, conserved site 1371 - 1396 IPR001331
domain SH3 domain 740 - 806 IPR001452-1
domain SH3 domain 913 - 971 IPR001452-2
domain SH3 domain 1002 - 1060 IPR001452-3
domain SH3 domain 1074 - 1138 IPR001452-4
domain SH3 domain 1155 - 1214 IPR001452-5
domain Pleckstrin homology domain 1440 - 1593 IPR001849
domain EF-hand domain 53 - 88 IPR002048-1
domain EF-hand domain 254 - 289 IPR002048-2
binding_site EF-Hand 1, calcium-binding site 66 - 78 IPR018247-1
binding_site EF-Hand 1, calcium-binding site 267 - 279 IPR018247-2
domain Intersectin-1, AP2 binding region 803 - 917 IPR032140

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Cytoplasm, cytoskeleton, microtubule organizing center
  • Cytoplasm, cytoskeleton, cilium basal body
  • Cytoplasm, cytoskeleton, cilium axoneme
  • Cytoplasm
  • Cell projection, dendrite
  • Localized at the tips of neurite-like processes in differentiated neuroblast cells
  • Detected in the cytoplasm and neuropil of the hippocampus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
ciliary basal body A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport.
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.
gamma-tubulin complex A multiprotein complex composed of gamma-tubulin and other non-tubulin proteins. Gamma-tubulin complexes are localized to microtubule organizing centers, and play an important role in the nucleation of microtubules. The number and complexity of non-tubulin proteins associated with these complexes varies between species.
microtubule cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
microtubule organizing center An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
midbody A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.

9 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cytoskeletal anchor activity The binding activity of a protein that brings together a cytoskeletal protein (either a microtubule or actin filament, spindle pole body, or protein directly bound to them) and one or more other molecules, permitting them to function in a coordinated way.
gamma-tubulin binding Binding to the microtubule constituent protein gamma-tubulin.
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
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
ubiquitin binding Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.

14 GO annotations of biological process

Name Definition
cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cilium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
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 bundle formation A process that results in a parallel arrangement of microtubules.
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.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
positive regulation of cell cycle Any process that activates or increases the rate or extent of progression through the cell cycle.
positive regulation of cilium assembly Any process that activates or increases the frequency, rate or extent of the formation of a cilium.
positive regulation of NLRP3 inflammasome complex assembly Any process that activates or increases the frequency, rate or extent of NLRP3 inflammasome complex assembly.
positive regulation of programmed cell death Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes.
positive regulation of protein localization to centrosome Any process that activates or increases the frequency, rate or extent of protein localization to centrosome.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of centrosome cycle Any process that modulates the frequency, rate or extent of the centrosome cycle, the processes of centrosome duplication and separation.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P57059 SIK1 Serine/threonine-protein kinase SIK1 Homo sapiens (Human) PR
Q8N5S9 CAMKK1 Calcium/calmodulin-dependent protein kinase kinase 1 Homo sapiens (Human) SS
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
P27448 MARK3 MAP/microtubule affinity-regulating kinase 3 Homo sapiens (Human) SS
Q8VHJ5 Mark1 Serine/threonine-protein kinase MARK1 Mus musculus (Mouse) SS
Q8C0N0 Gm4922 Sperm motility kinase Z Mus musculus (Mouse) PR
Q8C0X8 Sperm motility kinase X Mus musculus (Mouse) PR
Q03141 Mark3 MAP/microtubule affinity-regulating kinase 3 Mus musculus (Mouse) SS
A0AUV4 Gm7168 Sperm motility kinase Y Mus musculus (Mouse) PR
Q05512 Mark2 Serine/threonine-protein kinase MARK2 Mus musculus (Mouse) SS
Q8CIP4 Mark4 MAP/microtubule affinity-regulating kinase 4 Mus musculus (Mouse) SS
O08678 Mark1 Serine/threonine-protein kinase MARK1 Rattus norvegicus (Rat) SS
Q8VHF0 Mark3 MAP/microtubule affinity-regulating kinase 3 Rattus norvegicus (Rat) SS
O08679 Mark2 Serine/threonine-protein kinase MARK2 Rattus norvegicus (Rat) SS
Q852Q1 OSK4 Serine/threonine protein kinase OSK4 Oryza sativa subsp. japonica (Rice) SS
Q852Q2 OSK1 Serine/threonine protein kinase OSK1 Oryza sativa subsp. japonica (Rice) SS
Q852Q0 OSK3 Serine/threonine protein kinase OSK3 Oryza sativa subsp. japonica (Rice) SS
Q9TW45 par-1 Serine/threonine-protein kinase par-1 Caenorhabditis elegans SS
10 20 30 40 50 60
MSSRTVLAPG NDRNSDTHGT LGSGRSSDKG PSWSSRSLGA RCRNSIASCP EEQPHVGNYR
70 80 90 100 110 120
LLRTIGKGNF AKVKLARHIL TGREVAIKII DKTQLNPSSL QKLFREVRIM KGLNHPNIVK
130 140 150 160 170 180
LFEVIETEKT LYLVMEYASA GEVFDYLVSH GRMKEKEARA KFRQIVSAVH YCHQKNIVHR
190 200 210 220 230 240
DLKAENLLLD AEANIKIADF GFSNEFTLGS KLDTFCGSPP YAAPELFQGK KYDGPEVDIW
250 260 270 280 290 300
SLGVILYTLV SGSLPFDGHN LKELRERVLR GKYRVPFYMS TDCESILRRF LVLNPAKRCT
310 320 330 340 350 360
LEQIMKDKWI NIGYEGEELK PYTEPEEDFG DTKRIEVMVG MGYTREEIKE SLTSQKYNEV
370 380 390 400 410 420
TATYLLLGRK TEEGGDRGAP GLALARVRAP SDTTNGTSSS KGTSHSKGQR SSSSTYHRQR
430 440 450 460 470 480
RHSDFCGPSP APLHPKRSPT STGEAELKEE RLPGRKASCS TAGSGSRGLP PSSPMVSSAH
490 500 510 520 530 540
NPNKAEIPER RKDSTSTPNN LPPSMMTRRN TYVCTERPGA ERPSLLPNGK ENSSGTPRVP
550 560 570 580 590 600
PASPSSHSLA PPSGERSRLA RGSTIRSTFH GGQVRDRRAG GGGGGGVQNG PPASPTLAHE
610 620 630 640 650 660
AAPLPAGRPR PTTNLFTKLT SKLTRRVADE PERIGGPEVT SCHLPWDQTE TAPRLLRFPW
670 680 690 700 710 720
SVKLTSSRPP EALMAALRQA TAAARCRCRQ PQPFLLACLH GGAGGPEPLS HFEVEVCQLP
730 740 750
RPGLRGVLFR RVAGTALAFR TLVTRISNDL EL