Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for O95544

Entry ID Method Resolution Chain Position Source
3PFN X-ray 270 A A/B/C/D 68-426 PDB
AF-O95544-F1 Predicted AlphaFoldDB

302 variants for O95544

Variant ID(s) Position Change Description Diseaes Association Provenance
rs945313437
CA16849781
2 E>K No ClinGen
gnomAD
rs1178021001
CA337939996
3 M>I No ClinGen
TOPMed
CA531874
rs780271246
3 M>T No ClinGen
ExAC
gnomAD
CA337939974
rs1438416264
5 Q>E No ClinGen
TOPMed
CA16849762
rs375061907
6 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750827964
CA531872
8 M>I No ClinGen
ExAC
gnomAD
TCGA novel 8 M>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337939920
rs1416139383
8 M>T No ClinGen
gnomAD
TCGA novel 9 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337939891
rs201083151
10 M>R No ClinGen
1000Genomes
gnomAD
CA16849739
rs201083151
10 M>T No ClinGen
1000Genomes
gnomAD
CA531871
rs766419897
10 M>V No ClinGen
ExAC
gnomAD
CA337939320
rs1173076390
13 E>V No ClinGen
gnomAD
rs540868877
CA531870
17 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA337939270
rs1477120576
17 D>H No ClinGen
TOPMed
gnomAD
CA531869
rs751046422
18 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA16849727
rs910313865
18 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs762585014
CA531867
19 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1481084157
CA337939207
21 Y>* No ClinGen
gnomAD
CA531865
rs141373333
23 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759409953
CA531864
23 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs748296163
CA531863
24 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA337939166
rs1352957585
25 A>S No ClinGen
TOPMed
gnomAD
rs202107698
CA16849616
25 A>V No ClinGen
TOPMed
rs961640986
CA16849612
27 H>R No ClinGen
TOPMed
rs373135938
CA337939129
28 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1336154
CA531861
rs373135938
28 G>S salivary_gland Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA531857
rs201229178
29 D>N Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA531858
rs201229178
29 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA531856
rs780329303
34 Y>* No ClinGen
ExAC
gnomAD
rs1472750272
CA891518339
34 Y>* No ClinGen
TOPMed
CA337939020
rs1570555276
35 N>T No ClinGen
Ensembl
rs1236100129
CA337938993
36 H>D No ClinGen
TOPMed
rs1570555240
CA337938986
36 H>P No ClinGen
Ensembl
rs1195701371
CA337938964
38 I>N No ClinGen
TOPMed
TCGA novel 38 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746264887
CA531854
39 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs755581382
CA531855
39 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370296753
CA531852
41 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA16849589
rs370296753
41 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA531853
rs781458015
41 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA16849588
rs865799939
42 A>T No ClinGen
Ensembl
CA531851
rs752122671
45 R>C No ClinGen
ExAC
gnomAD
CA337938930
rs752122671
45 R>G No ClinGen
ExAC
gnomAD
COSM3976483
CA531850
rs377478067
45 R>H lung Variant assessed as Somatic; 4.624e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757913387
CA531849
51 P>S No ClinGen
ExAC
gnomAD
rs764966748
CA531847
52 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA531845
rs753641611
55 S>N No ClinGen
ExAC
gnomAD
rs1297863002
CA337938869
55 S>R No ClinGen
TOPMed
rs369515511
CA531844
56 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA531843
rs201617066
57 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA337938810
rs1269079044
62 T>R No ClinGen
TOPMed
rs532541185
CA531814
63 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs532541185
CA337938808
63 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA531813
rs776728824
63 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771216147
CA531812
64 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1234472785
CA337938768
69 C>F No ClinGen
TOPMed
rs894749639
CA16846151
70 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 71 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA531809
rs772541412
78 A>G No ClinGen
ExAC
rs1384343524
CA337938681
83 N>D No ClinGen
TOPMed
TCGA novel 85 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 87 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747797665
CA531630
88 M>I No ClinGen
ExAC
gnomAD
CA531629
rs778452853
89 H>D No ClinGen
ExAC
gnomAD
CA337936412
rs1557839693
92 D>A No ClinGen
Ensembl
rs1224694864
CA337936402
94 A>T No ClinGen
TOPMed
rs372709284
CA531624
95 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764164786
CA531623
95 S>R No ClinGen
ExAC
TOPMed
rs752911055
CA531621
97 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1335212018
CA337936381
97 R>W No ClinGen
gnomAD
CA531619
rs573640938
99 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA531616
rs145393948
107 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 118 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773625251
CA531614
119 L>R No ClinGen
ExAC
gnomAD
rs1458132570
CA337936036
121 P>L No ClinGen
gnomAD
CA531610
rs768423416
122 F>I No ClinGen
ExAC
gnomAD
rs1570517698
CA337935969
126 C>Y No ClinGen
Ensembl
COSM1258671
COSM1258672
rs749009504
CA531609
127 T>M oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA531607
rs755975349
128 H>Y No ClinGen
ExAC
gnomAD
CA337935941
rs1245652533
130 M>R No ClinGen
TOPMed
gnomAD
CA337935942
rs1245652533
130 M>T No ClinGen
TOPMed
gnomAD
CA337935894
rs1312027986
131 E>G No ClinGen
gnomAD
rs1378142023
CA337935901
131 E>K No ClinGen
gnomAD
CA337935289
rs1398225232
132 E>D No ClinGen
TOPMed
gnomAD
rs1557837982
CA337935279
133 N>S No ClinGen
Ensembl
CA337935254
rs1197534818
135 I>V No ClinGen
gnomAD
rs1490265077
CA337935236
136 V>L No ClinGen
TOPMed
gnomAD
COSM1472951
rs1490265077
COSM1472952
CA337935238
136 V>M Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA531510
rs374090651
143 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA531509
rs147892956
146 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147892956
CA531508
146 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA16837871
rs1010981575
147 A>S No ClinGen
TOPMed
gnomAD
CA337935092
rs1325065325
147 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs767263687
CA531507
148 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs768603667
CA531504
149 A>G No ClinGen
ExAC
gnomAD
CA531505
rs200152611
149 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA531502
rs776756207
152 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA337934972
rs1278026393
156 A>V No ClinGen
Ensembl
CA337934968
rs1161759576
157 V>M No ClinGen
TOPMed
rs771146301
CA531501
160 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA16837831
rs965784613
165 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA531499
rs772515992
165 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA531498
rs772515992
165 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA16837577
rs1022452747
167 D>E No ClinGen
TOPMed
rs563917740
CA531473
167 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1272583084
CA337934775
173 N>S No ClinGen
TOPMed
gnomAD
CA16837567
rs746639025
175 I>M No ClinGen
Ensembl
rs1201991688
CA337934758
175 I>T No ClinGen
gnomAD
CA337934749
rs780564992
177 F>I No ClinGen
ExAC
gnomAD
CA531472
rs780564992
177 F>V No ClinGen
ExAC
gnomAD
rs745346902
CA531470
178 I>V No ClinGen
ExAC
gnomAD
rs751182182
CA531467
182 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA16837530
rs772219400
CA337934715
182 G>R No ClinGen
TOPMed
gnomAD
rs751182182
CA531468
182 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs763881562
CA531466
183 G>A No ClinGen
ExAC
gnomAD
TCGA novel 183 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758157339
CA337934701
184 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA337934689
rs1182911931
186 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA531463
rs765243431
189 Y>H No ClinGen
ExAC
gnomAD
CA531461
rs773412415
190 A>D No ClinGen
ExAC
gnomAD
rs1265614547
CA337934671
190 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA531459
rs762029796
192 S>L No ClinGen
ExAC
gnomAD
CA337934642
rs1363020329
194 F>L No ClinGen
TOPMed
rs769018706
CA531457
195 Q>R No ClinGen
ExAC
gnomAD
rs771617462
CA531414
198 V>A No ClinGen
ExAC
gnomAD
rs772539818
CA531415
198 V>I No ClinGen
ExAC
gnomAD
rs1029258396
CA16836518
200 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA337934581
rs1243395425
202 M>I No ClinGen
TOPMed
rs1557835681
CA337934586
202 M>V No ClinGen
Ensembl
CA531411
rs768474573
205 H>Y No ClinGen
ExAC
gnomAD
CA531408
rs755987414
207 G>A No ClinGen
ExAC
gnomAD
rs745827627
CA531407
213 T>I No ClinGen
ExAC
gnomAD
rs1322495925
CA337934494
216 S>T No ClinGen
TOPMed
CA531406
rs777644499
217 F>S No ClinGen
ExAC
gnomAD
rs1449279914
CA337934483
218 E>K No ClinGen
TOPMed
gnomAD
rs1449279914
CA337934482
218 E>Q No ClinGen
TOPMed
gnomAD
rs1244239954
CA337934469
219 N>K No ClinGen
gnomAD
rs767918363
CA531405
220 F>S No ClinGen
ExAC
gnomAD
rs201837992
CA531403
221 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765421829
CA531402
222 S>C No ClinGen
ExAC
gnomAD
CA337934452
rs1441700508
222 S>P No ClinGen
Ensembl
CA337934429
rs1318294332
225 T>I No ClinGen
TOPMed
TCGA novel 226 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766780187
CA531399
228 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA531374
rs763714307
231 N>S No ClinGen
ExAC
gnomAD
CA531372
rs775236595
232 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA337933905
rs1323543424
234 V>A No ClinGen
gnomAD
CA531371
rs769424082
234 V>I No ClinGen
ExAC
gnomAD
COSM116897
rs139648414
CA531370
237 R>Q ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs936564493
CA16835632
239 R>Q No ClinGen
TOPMed
gnomAD
rs746695294
CA16835636
239 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA531368
rs373767547
243 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337933811
rs1465102638
243 R>T No ClinGen
TOPMed
CA337933789
rs1160405005
245 V>A No ClinGen
gnomAD
rs1225398403
CA337933776
246 K>N No ClinGen
gnomAD
CA531367
rs142307360
247 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA531365
rs75816936
249 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376387032
CA531363
249 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA531364
rs75816936
249 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA337933734
rs1434690669
250 G>E No ClinGen
gnomAD
CA337933740
rs1245227942
250 G>R No ClinGen
TOPMed
CA337933726
rs1380459353
251 K>Q No ClinGen
TOPMed
rs750798946
CA531361
251 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs781729596
CA531360
252 K>T No ClinGen
ExAC
gnomAD
CA337933695
rs1158577988
253 T>M No ClinGen
gnomAD
CA16835592
rs868560477
254 A>V No ClinGen
TOPMed
rs759176849
CA531353
255 V>A No ClinGen
ExAC
gnomAD
CA531355
rs147116706
255 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA531354
rs147116706
255 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776397399
CA531352
257 N>S No ClinGen
ExAC
gnomAD
rs1450504635
CA337933623
260 G>A No ClinGen
TOPMed
CA16835519
rs952363450
260 G>R No ClinGen
TOPMed
CA531348
CA16835517
rs4751
VAR_034119
262 N>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA531347
rs749358997
263 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA531346
rs780067155
264 S>L No ClinGen
ExAC
gnomAD
CA531343
rs757723692
265 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA337933560
rs1367323772
265 Q>P No ClinGen
gnomAD
CA531341
rs200480601
266 A>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1328742897
CA337933550
266 A>P No ClinGen
TOPMed
gnomAD
CA531339
rs141009211
268 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752246521
CA337933510
270 D>H No ClinGen
ExAC
gnomAD
rs752246521
CA531338
270 D>N No ClinGen
ExAC
gnomAD
CA531337
rs764712671
271 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1174216804
CA337933499
271 M>V No ClinGen
TOPMed
gnomAD
rs1188092589
CA337933481
272 D>G No ClinGen
gnomAD
rs754601133
CA531336
272 D>N No ClinGen
ExAC
gnomAD
CA337933467
rs1474315493
274 G>R No ClinGen
TOPMed
gnomAD
CA337933450
rs1247275835
275 K>R No ClinGen
gnomAD
CA531334
rs139056453
277 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337933404
rs1363739827
279 Q>K No ClinGen
TOPMed
CA337933398
rs1171052608
279 Q>P No ClinGen
TOPMed
rs1557833433
CA337933364
281 Q>H No ClinGen
Ensembl
rs149269930
CA531298
288 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA337933206
rs1399642019
292 P>R No ClinGen
TOPMed
CA531296
rs748790016
292 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1445163006 294 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1024457971
CA16835145
294 S>P No ClinGen
TOPMed
gnomAD
rs750077864
CA531293
296 L>V No ClinGen
ExAC
gnomAD
CA531292
rs780995813
298 N>S No ClinGen
ExAC
gnomAD
TCGA novel 303 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337933034
rs1429497327
305 G>R No ClinGen
gnomAD
rs374339403
CA337933007
306 H>Q No ClinGen
ESP
TOPMed
gnomAD
CA337933017
rs1435272538
306 H>Y No ClinGen
TOPMed
gnomAD
CA16835109
rs371296905
307 L>F No ClinGen
ESP
TOPMed
COSM899199
CA337932964
rs1270606632
COSM1151900
310 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA337932960
rs1270606632
310 T>R No ClinGen
gnomAD
CA337932949
rs1282234984
312 Q>E No ClinGen
TOPMed
CA337932940
rs1328597773
312 Q>H No ClinGen
gnomAD
rs1390848300
CA337932906
315 G>R No ClinGen
gnomAD
CA531260
rs770339120
317 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1440795418
CA337932834
318 V>A No ClinGen
gnomAD
CA531257
CA531258
rs780824098
318 V>L No ClinGen
ExAC
gnomAD
CA337932838
rs780824098
318 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1570498203
CA337932819
320 T>A No ClinGen
Ensembl
TCGA novel 320 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758300151
CA531253
326 A>V No ClinGen
ExAC
gnomAD
rs1364344087
CA337932722
328 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
COSM175511
rs750455546
CA531249
330 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767646767
CA531248
330 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs764390503
CA531245
332 G>A No ClinGen
ExAC
gnomAD
TCGA novel 332 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA531244
rs538580250
335 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA531243
rs775878184
338 P>A No ClinGen
ExAC
gnomAD
rs566351993
CA531242
339 N>H No ClinGen
1000Genomes
ExAC
gnomAD
CA337932587
rs1471814379
339 N>S No ClinGen
gnomAD
rs1220988910
CA337932571
340 V>G No ClinGen
TOPMed
rs1182769396
CA337932579
340 V>M No ClinGen
gnomAD
CA531240
rs775948949
341 P>L No ClinGen
ExAC
gnomAD
rs373077528
CA531238
343 I>V No ClinGen
ESP
ExAC
rs773021672
CA531237
344 M>I No ClinGen
ExAC
gnomAD
CA16834880
rs553496562
344 M>V No ClinGen
Ensembl
CA337932502
rs1378870655
345 I>M No ClinGen
gnomAD
rs747952693
CA531235
347 P>L No ClinGen
ExAC
gnomAD
rs1226599572
CA337932477
348 I>V No ClinGen
gnomAD
rs1348197141
CA337932432
351 H>L No ClinGen
gnomAD
CA531232
rs749249829
351 H>N No ClinGen
ExAC
gnomAD
TCGA novel 351 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337932374
rs1326090528
356 R>W No ClinGen
gnomAD
CA531230
rs781089281
357 P>S No ClinGen
ExAC
gnomAD
CA16834795
rs535936720
359 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
gnomAD
rs145224339
CA531227
362 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA531224
rs765650432
365 E>D No ClinGen
ExAC
gnomAD
CA531225
rs753050279
COSM1583741
COSM899196
365 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs759894955
CA531223
366 L>V No ClinGen
ExAC
gnomAD
CA337932166
rs1363092769
368 I>V No ClinGen
gnomAD
CA16834393
rs200161241
373 E>G No ClinGen
Ensembl
rs901060505
CA16834392
374 A>S No ClinGen
gnomAD
CA531200
rs761321804
377 T>I No ClinGen
ExAC
gnomAD
rs749892790
CA531199
380 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA531198
rs767139258
382 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA531196
rs774072680
385 R>L No ClinGen
ExAC
gnomAD
CA531197
rs761513924
385 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 386 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA531194
rs762775237
386 K>N No ClinGen
ExAC
gnomAD
TCGA novel 389 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA531192
rs375840869
391 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745822244
CA531191
391 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA337931900
rs1231219288
393 G>E No ClinGen
gnomAD
CA337931894
rs1340610689
394 D>Y No ClinGen
gnomAD
rs780425124
CA531164
397 S>R No ClinGen
ExAC
gnomAD
rs1250330407
CA337930800
399 T>A No ClinGen
gnomAD
CA337930764
rs1264223548
401 S>T No ClinGen
gnomAD
CA337930694
rs1245435586
404 P>L No ClinGen
TOPMed
gnomAD
CA16832344
rs778633688
406 P>L No ClinGen
Ensembl
CA337930675
rs1226856140
406 P>S No ClinGen
gnomAD
CA16832343
rs911072972
407 S>F No ClinGen
gnomAD
rs1570490411
CA337930650
408 I>L No ClinGen
Ensembl
rs757901699
CA531159
409 C>R No ClinGen
ExAC
TOPMed
CA337930625
rs1457248267
411 R>Q No ClinGen
gnomAD
COSM3740807
COSM3740808
CA531158
rs751071301
411 R>W Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA531157
COSM146376
rs763529709
414 V>M stomach [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA531156
rs367928288
415 S>N No ClinGen
ESP
ExAC
gnomAD
rs752326074
CA531155
416 D>N No ClinGen
ExAC
gnomAD
TCGA novel 419 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337930451
rs1226795389
420 S>N No ClinGen
TOPMed
gnomAD
rs956253216
CA16832291
420 S>R No ClinGen
TOPMed
rs1557829324
CA337930396
423 Q>H No ClinGen
Ensembl
CA531150
COSM1196702
rs760542689
COSM1196703
429 V>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA531151
rs760542689
429 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA531149
rs774421787
430 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM899191
CA337930276
COSM1151899
rs1557829238
430 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA337930255
rs961108512
432 K>E No ClinGen
gnomAD
CA16832264
rs961108512
432 K>Q No ClinGen
gnomAD
rs1235071021
CA337930244
433 Q>P No ClinGen
gnomAD
rs1310224016
CA337930237
434 A>D No ClinGen
TOPMed
gnomAD
rs1310224016
CA337930235
434 A>V No ClinGen
TOPMed
gnomAD
rs1300499182
CA337930223
435 H>R No ClinGen
TOPMed
gnomAD
rs1290524875
CA337930230
435 H>Y No ClinGen
gnomAD
rs768647366
CA531148
436 F>L No ClinGen
ExAC
gnomAD
CA531147
rs144140745
436 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337930191
rs1318007113
437 E>Q No ClinGen
gnomAD
CA337930172
rs1327979411
438 E>Q No ClinGen
Ensembl
rs531186303
CA16832247
439 E>D No ClinGen
ExAC
TOPMed
CA337930142
rs1470671507
439 E>G No ClinGen
TOPMed
CA337930128
rs1034499085
440 E>* No ClinGen
TOPMed
gnomAD
CA16832240
rs1034499085
440 E>K No ClinGen
TOPMed
gnomAD
TCGA novel 442 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA531138
rs139135464
445 E>* No ClinGen
ExAC
TOPMed
CA337929998
rs1376341482
445 E>* No ClinGen
TOPMed
gnomAD
rs770179015
CA531141
445 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781726371
CA531139
446 G>S No ClinGen
ExAC

No associated diseases with O95544

No regional properties for O95544

Type Name Position InterPro Accession
No domain, repeats, and functional sites for O95544

Functions

Description
EC Number 2.7.1.23 Phosphotransferases with an alcohol group as acceptor
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

3 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
metal ion binding Binding to a metal ion.
NAD+ kinase activity Catalysis of the reaction: ATP + NAD(+) = ADP + 2 H(+) + NADP(+).

4 GO annotations of biological process

Name Definition
ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator.
NAD metabolic process The chemical reactions and pathways involving nicotinamide adenine dinucleotide (NAD), a coenzyme present in most living cells and derived from the B vitamin nicotinic acid.
NADP biosynthetic process The chemical reactions and pathways resulting in the formation of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; biosynthesis may be of either the oxidized form, NADP, or the reduced form, NADPH.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P58058 Nadk NAD kinase Mus musculus (Mouse) PR
10 20 30 40 50 60
MEMEQEKMTM NKELSPDAAA YCCSACHGDE TWSYNHPIRG RAKSRSLSAS PALGSTKEFR
70 80 90 100 110 120
RTRSLHGPCP VTTFGPKACV LQNPQTIMHI QDPASQRLTW NKSPKSVLVI KKMRDASLLQ
130 140 150 160 170 180
PFKELCTHLM EENMIVYVEK KVLEDPAIAS DESFGAVKKK FCTFREDYDD ISNQIDFIIC
190 200 210 220 230 240
LGGDGTLLYA SSLFQGSVPP VMAFHLGSLG FLTPFSFENF QSQVTQVIEG NAAVVLRSRL
250 260 270 280 290 300
KVRVVKELRG KKTAVHNGLG ENGSQAAGLD MDVGKQAMQY QVLNEVVIDR GPSSYLSNVD
310 320 330 340 350 360
VYLDGHLITT VQGDGVIVST PTGSTAYAAA AGASMIHPNV PAIMITPICP HSLSFRPIVV
370 380 390 400 410 420
PAGVELKIML SPEARNTAWV SFDGRKRQEI RHGDSISITT SCYPLPSICV RDPVSDWFES
430 440
LAQCLHWNVR KKQAHFEEEE EEEEEG