Q92630
Gene name |
DYRK2 |
Protein name |
Dual specificity tyrosine-phosphorylation-regulated kinase 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8445 |
EC number |
2.7.12.1: Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
Protein Class |
|

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
367-387 (Activation loop from InterPro)
Target domain |
222-535 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

24 structures for Q92630
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
3K2L | X-ray | 236 A | A | 146-552 | PDB |
3KVW | X-ray | 228 A | A | 146-552 | PDB |
4AZF | X-ray | 255 A | A | 146-540 | PDB |
5LXC | X-ray | 215 A | A/B | 146-552 | PDB |
5LXD | X-ray | 258 A | A/B | 146-552 | PDB |
5ZTN | X-ray | 250 A | A/B | 146-552 | PDB |
6HDP | X-ray | 230 A | A | 146-552 | PDB |
6HDR | X-ray | 220 A | A | 146-552 | PDB |
6K0J | X-ray | 235 A | A | 212-536 | PDB |
7AKF | X-ray | 260 A | A | 146-552 | PDB |
7AKH | X-ray | 285 A | A | 146-552 | PDB |
7DG4 | X-ray | 258 A | A | 215-538 | PDB |
7DH3 | X-ray | 233 A | A | 213-538 | PDB |
7DH9 | X-ray | 219 A | A | 215-538 | PDB |
7DHC | X-ray | 259 A | A | 215-538 | PDB |
7DHH | X-ray | 249 A | A | 215-538 | PDB |
7DHK | X-ray | 234 A | A | 215-538 | PDB |
7DHN | X-ray | 238 A | A | 215-538 | PDB |
7DHO | X-ray | 329 A | A | 215-538 | PDB |
7DHV | X-ray | 268 A | A | 212-538 | PDB |
7DJO | X-ray | 250 A | A | 215-538 | PDB |
7DL6 | X-ray | 265 A | A | 215-538 | PDB |
8HLT | X-ray | 280 A | A/B | 145-537 | PDB |
AF-Q92630-F1 | Predicted | AlphaFoldDB |
437 variants for Q92630
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs780280111 CA6675463 |
6 | P>H | No |
ClinGen ExAC gnomAD |
|
rs747079356 CA6675464 |
8 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1047112428 CA238184713 |
8 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs537957540 CA6675466 |
9 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs748735512 CA6675467 |
9 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1309063613 CA385893798 |
11 | P>L | No |
ClinGen gnomAD |
|
CA6675472 rs767310972 |
14 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1170623892 CA385893840 |
14 | Y>H | No |
ClinGen TOPMed |
|
rs767310972 CA6675471 |
14 | Y>S | No |
ClinGen ExAC gnomAD |
|
CA6675475 rs753274270 |
17 | G>R | No |
ClinGen ExAC gnomAD |
|
CA6675502 rs553490122 |
19 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA385894541 rs1236642877 |
20 | G>E | No |
ClinGen TOPMed |
|
rs752858847 CA6675503 |
22 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs915192868 CA238185529 |
23 | A>G | No |
ClinGen Ensembl |
|
CA385894580 rs1565801855 |
23 | A>T | No |
ClinGen Ensembl |
|
rs756215589 CA6675504 |
24 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675506 rs749747547 |
28 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA385894675 rs1592710711 |
29 | A>S | No |
ClinGen Ensembl |
|
CA385894728 rs1433697208 |
32 | G>E | No |
ClinGen TOPMed |
|
CA6675512 rs571967830 |
37 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1471007221 CA385894801 |
38 | T>I | No |
ClinGen TOPMed |
|
rs1233232743 CA385894809 |
39 | R>L | No |
ClinGen TOPMed |
|
rs1187042962 CA385894820 |
40 | S>N | No |
ClinGen TOPMed |
|
rs1592710742 CA385894830 |
41 | G>E | No |
ClinGen Ensembl |
|
rs1390937976 CA385894840 |
42 | V>L | No |
ClinGen gnomAD |
|
CA385894836 rs1390937976 |
42 | V>M | No |
ClinGen gnomAD |
|
rs772702866 CA6675514 |
43 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1320173162 CA385894889 |
46 | P>Q | No |
ClinGen gnomAD |
|
rs1312883630 CA385894887 |
46 | P>S | No |
ClinGen TOPMed |
|
rs1284106336 CA385894900 |
47 | P>S | No |
ClinGen TOPMed |
|
rs766206981 CA6675516 |
48 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751412921 CA6675517 |
48 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs759216183 CA6675518 |
49 | P>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 49 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1270019358 CA385894924 |
50 | I>L | No |
ClinGen gnomAD |
|
CA385894928 rs1327180470 |
50 | I>T | No |
ClinGen gnomAD |
|
CA385894933 rs1208331375 |
51 | A>P | No |
ClinGen gnomAD |
|
rs1376235287 CA385894958 |
53 | P>L | No |
ClinGen TOPMed |
|
rs752910064 CA6675520 |
54 | P>A | No |
ClinGen ExAC |
|
CA6675521 rs756266896 |
54 | P>L | No |
ClinGen ExAC gnomAD |
|
CA238185619 rs945021919 |
55 | L>F | No |
ClinGen TOPMed |
|
CA385895006 rs1414821350 |
58 | S>N | No |
ClinGen TOPMed |
|
CA6675522 rs778067609 |
58 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385895014 rs1489658953 |
59 | N>H | No |
ClinGen gnomAD |
|
rs753955862 CA6675523 |
59 | N>S | No |
ClinGen ExAC gnomAD |
|
CA6675525 rs557502236 |
65 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs779248417 CA6675526 |
66 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1458313013 CA385889748 |
67 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs968443245 CA238190846 |
69 | G>R | No |
ClinGen gnomAD |
|
CA238190838 rs968443245 |
69 | G>S | No |
ClinGen gnomAD |
|
rs1370110230 CA385889766 |
70 | S>N | No |
ClinGen gnomAD |
|
rs1217984793 CA385889775 |
71 | K>R | No |
ClinGen gnomAD |
|
rs1301141293 CA385889787 |
73 | T>P | No |
ClinGen gnomAD |
|
rs1230281563 CA385889796 |
74 | M>T | No |
ClinGen gnomAD |
|
CA6675549 rs780452325 |
74 | M>V | No |
ClinGen ExAC gnomAD |
|
rs200418247 CA238190857 |
75 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs755807656 CA6675551 |
76 | D>H | No |
ClinGen ExAC gnomAD |
|
CA385889820 rs1592713797 |
77 | H>P | No |
ClinGen Ensembl |
|
rs1592713803 CA385889823 |
78 | L>M | No |
ClinGen Ensembl |
|
rs777366599 CA6675552 |
78 | L>P | No |
ClinGen ExAC gnomAD |
|
CA385889832 rs1487358698 |
79 | H>L | No |
ClinGen gnomAD |
|
rs748856707 CA6675553 |
79 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA6675555 rs199671497 |
81 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385889848 rs1156310364 |
82 | S>N | No |
ClinGen gnomAD |
|
rs745859869 CA6675556 |
82 | S>R | No |
ClinGen ExAC gnomAD |
|
CA385889856 rs1407301902 |
83 | H>R | No |
ClinGen TOPMed |
|
rs775477051 CA385889860 |
84 | A>S | No |
ClinGen ExAC gnomAD |
|
CA6675558 rs775477051 |
84 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1481687503 CA385889867 |
85 | H>Y | No |
ClinGen TOPMed |
|
rs376836219 COSM1476856 CA238190939 |
86 | G>R | breast [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
rs1303135588 CA385889885 |
87 | Q>H | No |
ClinGen gnomAD |
|
rs764431941 CA6675560 |
90 | V>A | No |
ClinGen ExAC gnomAD |
|
rs138020482 CA238190960 |
90 | V>F | No |
ClinGen ESP gnomAD |
|
CA385889904 rs764431941 |
90 | V>G | No |
ClinGen ExAC gnomAD |
|
CA385889902 rs138020482 |
90 | V>L | No |
ClinGen ESP gnomAD |
|
CA385889919 rs1328485816 |
92 | Q>H | No |
ClinGen gnomAD |
|
rs761954038 CA6675562 |
94 | F>C | No |
ClinGen ExAC gnomAD |
|
rs35139851 VAR_040458 CA238190995 |
98 | S>G | No |
ClinGen UniProt Ensembl dbSNP |
|
rs1450969305 CA385889978 |
100 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA385889985 rs1220513841 |
101 | R>Q | No |
ClinGen gnomAD |
|
CA6675564 rs368663247 |
101 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385889991 rs1565804117 |
102 | T>I | No |
ClinGen Ensembl |
|
rs758950789 CA6675565 |
105 | T>M | No |
ClinGen ExAC gnomAD |
|
CA6675568 rs755291219 |
108 | P>Q | No |
ClinGen ExAC gnomAD |
|
rs991964702 CA238191023 |
110 | G>E | No |
ClinGen Ensembl |
|
rs1183261564 CA385890046 |
111 | L>R | No |
ClinGen gnomAD |
|
CA238191026 rs893362378 |
112 | T>I | No |
ClinGen TOPMed |
|
rs1389327643 CA385890053 |
113 | T>A | No |
ClinGen gnomAD |
|
rs1414915327 CA385890055 |
113 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA385890061 rs777497932 |
114 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675570 rs777497932 |
114 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675571 rs372026905 |
117 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6675574 rs778346638 |
120 | P>L | No |
ClinGen ExAC gnomAD |
|
CA385890105 rs369962925 |
121 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs369962925 CA6675575 |
121 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6675576 rs772165908 |
122 | V>G | No |
ClinGen ExAC gnomAD |
|
rs201692417 CA6675578 |
125 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373326108 CA6675577 |
125 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385890137 rs1592713932 |
127 | L>V | No |
ClinGen Ensembl |
|
CA385890145 rs1377242176 |
128 | D>G | No |
ClinGen gnomAD |
|
rs776478421 CA6675580 |
129 | S>G | No |
ClinGen ExAC gnomAD |
|
rs61744989 CA6675581 |
129 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1202975759 CA385890166 |
131 | H>R | No |
ClinGen gnomAD |
|
rs762983787 CA6675585 |
133 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675584 rs762983787 |
133 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773201871 CA6675583 |
133 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs752009659 CA6675586 |
136 | S>R | No |
ClinGen ExAC gnomAD |
|
CA385890201 rs1472255112 |
137 | S>P | No |
ClinGen TOPMed gnomAD |
|
rs1472255112 CA385890200 |
137 | S>T | No |
ClinGen TOPMed gnomAD |
|
rs1258548297 CA385890210 |
138 | T>S | No |
ClinGen TOPMed |
|
COSM244174 rs1341912636 CA385890217 |
139 | S>F | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1217584168 CA385890218 |
140 | L>I | No |
ClinGen TOPMed |
|
rs753092948 CA385890234 |
142 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753092948 CA6675589 |
142 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756911170 COSM694684 CA6675590 |
143 | M>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 144 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385890264 rs1565804266 |
146 | M>I | No |
ClinGen Ensembl |
|
CA238191166 rs983446748 |
148 | K>R | No |
ClinGen TOPMed |
|
CA385890283 rs1592713977 |
149 | V>G | No |
ClinGen Ensembl |
|
CA385890280 rs1565804270 |
149 | V>M | No |
ClinGen Ensembl |
|
TCGA novel | 151 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 154 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6675592 rs749974322 |
154 | M>V | No |
ClinGen ExAC gnomAD |
|
CA385890358 rs1592714003 |
160 | M>T | No |
ClinGen Ensembl |
|
rs1359691117 CA385890355 |
160 | M>V | No |
ClinGen TOPMed |
|
TCGA novel | 162 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385890372 rs1162591186 |
162 | Q>E | No |
ClinGen Ensembl |
|
rs192078400 CA6675597 |
163 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs539367942 CA6675596 |
163 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 163 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6675598 rs747940965 |
164 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1269567570 CA385890386 |
164 | M>V | No |
ClinGen gnomAD |
|
rs1220515482 CA385890394 |
165 | Q>E | No |
ClinGen gnomAD |
|
CA6675599 rs769942888 |
168 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1389378799 CA385890415 |
168 | T>P | No |
ClinGen TOPMed |
|
rs773437748 CA6675600 |
169 | A>V | No |
ClinGen ExAC gnomAD |
|
CA6675604 rs774410869 |
170 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675602 rs569784741 |
170 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 171 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs933131402 CA238191274 |
175 | I>V | No |
ClinGen TOPMed |
|
rs148267811 CA6675606 |
176 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 177 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1373066922 CA385890493 |
179 | P>A | No |
ClinGen gnomAD |
|
rs1478650310 CA385890496 |
179 | P>R | No |
ClinGen gnomAD |
|
rs200772204 CA6675607 |
180 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA238191289 rs923691915 |
181 | I>L | No |
ClinGen TOPMed |
|
rs1423192672 CA385890512 |
182 | Y>H | No |
ClinGen TOPMed gnomAD |
|
CA385890525 rs1321525009 |
183 | F>L | No |
ClinGen gnomAD |
|
TCGA novel | 186 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6675612 rs751088641 |
186 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675613 rs754908658 |
188 | A>T | No |
ClinGen ExAC gnomAD |
|
rs893457223 CA238191368 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA6675614 rs368931012 |
191 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA6675615 rs555625707 |
192 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1192820626 CA385890584 |
193 | G>S | No |
ClinGen gnomAD |
|
CA6675616 rs372952031 |
194 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6675617 rs777979634 |
196 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385890620 rs1384093596 COSM13317 VAR_040459 |
198 | P>L | central_nervous_system a glioblastoma multiforme sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
rs142946655 CA6675618 |
199 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376533757 CA6675619 |
200 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 200 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6675620 rs774463586 |
201 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385890643 rs1413857309 |
202 | G>D | No |
ClinGen gnomAD |
|
CA385890640 rs1565804395 |
202 | G>S | No |
ClinGen Ensembl |
|
CA385890680 rs1175748064 |
207 | Q>* | No |
ClinGen gnomAD |
|
CA238191460 CA238191443 rs202065816 |
208 | G>R | No |
ClinGen Ensembl |
|
CA385890694 rs1565804402 |
209 | S>* | No |
ClinGen Ensembl |
|
CA6675623 rs776005627 |
212 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1036201941 CA238191504 |
213 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1388269280 CA385890726 |
214 | P>L | No |
ClinGen gnomAD |
|
CA385890722 rs1391210769 |
214 | P>S | No |
ClinGen gnomAD |
|
CA385890734 rs762739744 |
215 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385890738 rs1565804436 |
216 | D>N | No |
ClinGen Ensembl |
|
CA6675628 rs147455307 |
218 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6675630 rs754464541 |
224 | V>L | No |
ClinGen ExAC gnomAD |
|
CA385890811 rs1211974320 |
226 | K>N | No |
ClinGen gnomAD |
|
CA385890809 rs1195090573 |
226 | K>R | No |
ClinGen TOPMed |
|
TCGA novel | 226 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs767371517 CA6675631 |
227 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1252799146 CA385890850 |
232 | S>I | No |
ClinGen TOPMed |
|
rs1181416862 CA385890871 |
235 | Q>R | No |
ClinGen gnomAD |
|
CA6675633 rs756005590 |
236 | V>A | No |
ClinGen ExAC gnomAD |
|
CA6675634 rs777603041 |
237 | V>A | No |
ClinGen ExAC gnomAD |
|
CA6675635 rs749061660 |
238 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1232441898 CA385890923 |
243 | K>E | No |
ClinGen TOPMed |
|
rs779069592 CA6675637 |
244 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_040460 CA6675638 rs34166200 |
245 | H>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1348111007 CA385890938 |
245 | H>R | No |
ClinGen gnomAD |
|
CA385890948 rs1390291213 |
246 | Q>H | No |
ClinGen gnomAD |
|
CA6675639 rs772122553 |
247 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385890959 rs1247519517 |
248 | V>M | No |
ClinGen gnomAD |
|
rs777171478 CA6675643 |
252 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777171478 CA385890982 |
252 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675645 rs766149027 |
254 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA385890996 rs762225112 |
254 | R>W | No |
ClinGen ExAC gnomAD |
|
CA385891004 rs1479719943 |
255 | N>S | No |
ClinGen gnomAD |
|
CA6675647 rs758976485 |
257 | K>N | No |
ClinGen ExAC gnomAD |
|
rs767125464 CA6675648 |
258 | R>C | No |
ClinGen ExAC gnomAD |
|
CA385891025 rs1394921227 |
258 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1181905344 CA385891038 |
260 | H>Y | No |
ClinGen gnomAD |
|
rs752139842 CA6675649 |
261 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA238191704 rs941930561 |
261 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs545402235 CA6675650 |
264 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA385891070 rs1288368147 |
265 | E>G | No |
ClinGen gnomAD |
|
rs987294602 CA238191759 |
267 | I>M | No |
ClinGen TOPMed |
|
rs1403651059 CA385891089 |
268 | R>* | No |
ClinGen gnomAD |
|
rs1403651059 CA385891088 |
268 | R>G | No |
ClinGen gnomAD |
|
rs756999508 CA6675653 |
268 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA238191761 rs923758075 |
271 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs201048832 CA6675655 |
274 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA238191848 rs150646275 |
274 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
rs150646275 COSM942818 CA238191829 |
274 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
rs201048832 CA6675656 |
274 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6675658 rs747024511 |
278 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675659 rs769314299 |
281 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675660 rs755603146 |
281 | T>R | No |
ClinGen ExAC gnomAD |
|
CA238191887 rs149820247 |
282 | M>I | No |
ClinGen ESP |
|
CA385891177 rs1484253683 |
282 | M>V | No |
ClinGen gnomAD |
|
rs1202032875 CA385891184 |
283 | N>H | No |
ClinGen gnomAD |
|
CA385891188 rs1242736782 |
283 | N>S | No |
ClinGen gnomAD |
|
CA385891209 rs1417367747 |
286 | H>R | No |
ClinGen gnomAD |
|
CA6675665 rs771602708 |
287 | M>K | No |
ClinGen ExAC gnomAD |
|
CA6675664 rs759295442 |
287 | M>V | No |
ClinGen ExAC gnomAD |
|
CA6675666 rs775106036 |
288 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385891233 rs1402440118 |
290 | N>D | No |
ClinGen TOPMed |
|
rs1477617122 CA385891249 |
292 | T>A | No |
ClinGen gnomAD |
|
CA385891248 rs1477617122 |
292 | T>P | No |
ClinGen gnomAD |
|
CA385891252 rs1157672577 |
292 | T>S | No |
ClinGen TOPMed |
|
CA6675667 rs760064592 |
295 | N>H | No |
ClinGen ExAC gnomAD |
|
CA6675668 VAR_040461 rs56293072 |
295 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6675670 rs761733010 CA385891297 |
299 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385891298 rs761733010 |
299 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs575789813 CA6675671 |
300 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA6675673 rs758682432 |
302 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1412777406 CA385891331 |
304 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs1221731740 CA385891369 |
309 | Y>S | No |
ClinGen gnomAD |
|
CA385891376 rs1262829028 |
310 | E>Q | No |
ClinGen gnomAD |
|
CA385891392 rs1279596422 |
312 | I>T | No |
ClinGen TOPMed |
|
CA6675677 rs781766417 |
315 | N>K | No |
ClinGen ExAC gnomAD |
|
CA385891427 rs1592714401 |
317 | F>L | No |
ClinGen Ensembl |
|
rs748735454 CA6675678 |
321 | S>R | No |
ClinGen ExAC gnomAD |
|
CA238192005 rs371001500 |
326 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA385891488 rs371001500 |
326 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA6675679 rs770414447 |
326 | R>H | No |
ClinGen ExAC gnomAD |
|
rs770414447 CA385891489 |
326 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA6675681 rs749584629 |
327 | K>R | No |
ClinGen ExAC gnomAD |
|
rs372007678 CA6675682 |
328 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385891531 rs1411974809 |
329 | A>G | No |
ClinGen gnomAD |
|
CA6675683 rs774958958 |
330 | H>L | No |
ClinGen ExAC gnomAD |
|
CA385891556 rs1292029023 |
331 | S>L | No |
ClinGen TOPMed |
|
rs760193763 CA6675684 |
332 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1592714432 CA385891571 |
333 | L>V | No |
ClinGen Ensembl |
|
CA238192058 rs956671053 |
334 | Q>R | No |
ClinGen Ensembl |
|
rs140715500 CA6675685 |
336 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
rs1453459826 CA385891636 |
337 | D>E | No |
ClinGen gnomAD |
|
rs1013657932 CA238192074 |
337 | D>G | No |
ClinGen Ensembl |
|
TCGA novel | 337 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs776105144 CA6675686 |
338 | A>T | No |
ClinGen ExAC gnomAD |
|
CA385891665 rs1398608442 |
340 | H>D | No |
ClinGen TOPMed |
|
rs776636794 CA6675687 |
340 | H>L | No |
ClinGen ExAC gnomAD |
|
CA238192083 rs776636794 |
340 | H>R | No |
ClinGen ExAC gnomAD |
|
rs765054404 CA6675688 |
341 | K>R | No |
ClinGen ExAC |
|
TCGA novel | 345 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs867552772 CA238192086 |
346 | H>Y | No |
ClinGen Ensembl |
|
TCGA novel | 352 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs751667499 CA6675692 |
354 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 357 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA238192121 rs1024997230 |
358 | Q>H | No |
ClinGen TOPMed |
|
rs1415544661 CA385892321 |
359 | Q>E | No |
ClinGen TOPMed |
|
rs761933866 CA6675693 |
363 | G>S | No |
ClinGen ExAC gnomAD |
|
CA385892355 rs1472997035 |
364 | I>V | No |
ClinGen TOPMed |
|
rs1267222237 CA385892390 |
369 | F>L | No |
ClinGen gnomAD |
|
CA385892408 rs1241323221 |
371 | S>F | No |
ClinGen TOPMed |
|
CA385892438 rs1175160975 |
375 | E>V | No |
ClinGen gnomAD |
|
rs1445530136 CA385892451 |
377 | Q>E | No |
ClinGen TOPMed |
|
CA6675696 rs374322116 |
377 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs756730510 CA6675697 |
378 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6675698 COSM1363807 rs543503984 |
378 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs749689088 CA6675699 |
379 | V>I | No |
ClinGen ExAC gnomAD |
|
CA6675700 COSM942822 rs757508984 |
381 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 385 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 386 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768271747 CA6675703 |
388 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 391 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772964517 CA6675707 |
398 | R>S | No |
ClinGen ExAC |
|
CA6675706 rs769792355 |
398 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385892603 rs1221700522 |
400 | G>D | No |
ClinGen gnomAD |
|
CA385892615 rs1327851018 |
402 | P>S | No |
ClinGen TOPMed |
|
rs886587503 CA238192202 |
405 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA385892638 rs1275229370 |
405 | M>T | No |
ClinGen gnomAD |
|
rs981026091 CA238192217 |
407 | S>I | No |
ClinGen Ensembl |
|
TCGA novel | 409 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762808815 CA385892696 |
413 | A>G | No |
ClinGen ExAC gnomAD |
|
rs762808815 CA6675708 |
413 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1472923708 CA385892707 |
415 | L>F | No |
ClinGen gnomAD |
|
rs766155721 CA6675709 |
416 | L>M | No |
ClinGen ExAC gnomAD |
|
CA6675710 rs140246773 |
417 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA6675714 rs369177246 |
419 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 421 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1392220162 CA385892751 |
422 | L>F | No |
ClinGen TOPMed |
|
TCGA novel | 426 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1380359510 CA385892777 |
426 | D>V | No |
ClinGen gnomAD |
|
CA6675720 rs754652492 |
428 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1415818234 CA385892821 |
433 | C>R | No |
ClinGen Ensembl |
|
rs1224337591 CA385892834 |
434 | M>I | No |
ClinGen TOPMed |
|
rs1251231036 CA385892832 |
434 | M>T | No |
ClinGen TOPMed |
|
CA238192323 rs755504526 |
435 | I>T | No |
ClinGen Ensembl |
|
TCGA novel | 439 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 439 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs747669756 CA6675722 |
440 | M>T | No |
ClinGen ExAC gnomAD |
|
rs772776286 CA6675724 |
443 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1442442913 CA385892893 |
443 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA385892903 rs1240844937 |
444 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs1565804953 CA385892908 |
445 | L>R | No |
ClinGen Ensembl |
|
rs1028929571 CA238192392 |
446 | L>V | No |
ClinGen TOPMed |
|
CA385892915 rs1460296462 |
447 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs777428293 CA238192405 |
447 | D>Y | No |
ClinGen Ensembl |
|
rs749243922 CA6675725 |
450 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_040462 rs35688869 CA238192426 |
451 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen UniProt Ensembl NCI-TCGA dbSNP |
rs1476684276 CA385892958 |
454 | N>D | No |
ClinGen gnomAD |
|
TCGA novel | 454 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs954680330 CA238192445 |
454 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA238192436 rs943106175 |
454 | N>S | No |
ClinGen Ensembl |
|
CA238192456 rs55774594 VAR_040463 |
455 | F>Y | No |
ClinGen UniProt dbSNP gnomAD |
|
rs774328160 CA6675727 |
456 | V>L | No |
ClinGen ExAC gnomAD |
|
CA6675728 rs759368728 |
459 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385892999 rs1370996112 |
460 | G>A | No |
ClinGen TOPMed |
|
rs748885684 CA238192465 |
460 | G>S | No |
ClinGen gnomAD |
|
CA385893004 rs1327918255 |
461 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs772449209 CA6675729 |
461 | Y>N | No |
ClinGen ExAC gnomAD |
|
rs1393303851 CA385893016 |
463 | R>C | No |
ClinGen TOPMed |
|
CA238192516 rs573469138 |
463 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
TCGA novel | 464 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1269480999 CA385893027 |
465 | C>S | No |
ClinGen gnomAD |
|
rs61733656 CA385893039 |
466 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs61733656 CA6675732 |
466 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA385893051 rs1232806533 |
468 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1484208488 CA385893060 |
470 | L>F | No |
ClinGen TOPMed |
|
rs1484208488 CA385893059 |
470 | L>V | No |
ClinGen TOPMed |
|
rs765688297 CA6675735 |
472 | D>G | No |
ClinGen ExAC gnomAD |
|
CA6675736 rs750808823 |
474 | S>C | No |
ClinGen ExAC gnomAD |
|
CA6675737 rs758703731 |
475 | V>A | No |
ClinGen ExAC gnomAD |
|
CA6675738 rs780826338 |
476 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1209661639 CA385893095 |
476 | V>I | No |
ClinGen TOPMed |
|
CA385893135 rs1191720584 |
479 | G>R | No |
ClinGen gnomAD |
|
CA385893143 rs1242025281 |
480 | G>S | No |
ClinGen gnomAD |
|
CA6675740 rs755779810 |
481 | R>C | No |
ClinGen ExAC gnomAD |
|
rs777199119 CA6675741 |
481 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385893161 rs777199119 |
481 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200239121 CA6675743 |
483 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6675742 rs748801595 |
483 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs77455066 CA238192593 |
486 | K>E | No |
ClinGen Ensembl |
|
rs1160117059 CA385893221 |
486 | K>I | No |
ClinGen gnomAD |
|
CA385893226 rs778950423 |
486 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385893263 rs1412074118 |
490 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs1331591899 CA385893301 |
492 | E>D | No |
ClinGen gnomAD |
|
rs1406629248 CA385893309 |
493 | S>N | No |
ClinGen gnomAD |
|
rs56178357 CA385893318 |
493 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs989198070 CA238192604 |
496 | W>C | No |
ClinGen TOPMed |
|
rs1228664271 CA385893358 |
496 | W>S | No |
ClinGen gnomAD |
|
rs760852696 CA6675748 |
498 | N>H | No |
ClinGen ExAC gnomAD |
|
rs535674843 CA6675750 |
498 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs768889751 CA6675749 |
498 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765747136 CA6675752 |
499 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675753 rs138614034 |
499 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs766785374 CA6675755 |
503 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385893447 rs1405916623 |
503 | C>Y | No |
ClinGen Ensembl |
|
rs1391114366 CA385893464 |
504 | D>V | No |
ClinGen gnomAD |
|
rs751932333 CA6675756 |
504 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs919160707 CA238192743 |
507 | L>F | No |
ClinGen Ensembl |
|
TCGA novel | 507 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs755763829 CA6675757 |
510 | D>E | No |
ClinGen ExAC gnomAD |
|
COSM3417085 CA6675758 rs777442529 |
511 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs753315158 CA385893576 |
513 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753315158 CA6675759 |
513 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675761 rs535142121 |
514 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6675762 rs745870753 |
517 | E>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 518 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385893669 rs1237799158 |
519 | D>N | No |
ClinGen gnomAD |
|
rs1281526619 CA385893714 |
521 | A>S | No |
ClinGen TOPMed |
|
CA385893730 rs1351055632 |
522 | V>A | No |
ClinGen TOPMed |
|
TCGA novel | 523 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs780031437 COSM416101 CA6675764 |
523 | R>H | kidney urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
TCGA novel | 524 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385893760 rs1290177833 |
524 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs1592714818 CA385893803 |
526 | P>A | No |
ClinGen Ensembl |
|
CA385893820 rs1196436890 |
527 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs776854870 CA6675767 CA6675768 |
528 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs910196972 CA238192809 |
528 | Q>R | No |
ClinGen Ensembl |
|
rs769926495 CA6675769 |
529 | A>P | No |
ClinGen ExAC gnomAD |
|
rs773264334 COSM3812867 CA6675770 |
531 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA238192862 rs867420742 |
531 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA238192893 rs936839760 |
533 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1164918558 CA385893974 |
536 | R>S | No |
ClinGen TOPMed |
|
rs188321581 CA6675774 |
538 | R>Q | No |
ClinGen ExAC gnomAD |
|
COSM356727 CA6675773 rs774611484 |
538 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs753467166 CA6675778 |
545 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1249894970 CA385894078 |
545 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs753467166 CA6675777 |
545 | G>W | No |
ClinGen ExAC gnomAD |
|
rs575700478 CA6675779 |
548 | T>M | No |
ClinGen ExAC gnomAD |
|
CA6675781 rs758437734 |
550 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1239810338 CA385894146 |
551 | K>E | No |
ClinGen TOPMed |
|
CA6675783 rs577987133 |
554 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA385894215 rs1253174889 |
555 | E>D | No |
ClinGen gnomAD |
|
rs1565805244 CA385894202 |
555 | E>Q | No |
ClinGen Ensembl |
|
rs754735753 CA6675784 |
557 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754735753 CA385894240 |
557 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6675786 rs748460025 |
558 | G>S | No |
ClinGen ExAC gnomAD |
|
rs769979169 CA6675787 |
558 | G>V | No |
ClinGen ExAC gnomAD |
|
CA6675788 rs369329175 |
561 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6675790 rs771451192 |
563 | I>M | No |
ClinGen ExAC gnomAD |
|
rs749326516 CA6675789 |
563 | I>V | No |
ClinGen ExAC gnomAD |
|
CA6675791 rs774866895 |
567 | P>L | No |
ClinGen ExAC gnomAD |
|
rs767994749 CA6675793 |
568 | P>L | No |
ClinGen ExAC gnomAD |
|
rs373302349 CA6675792 |
568 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
rs1565805288 CA385894364 |
569 | P>S | No |
ClinGen Ensembl |
|
CA238193024 rs544724491 |
570 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs544724491 CA238193032 |
570 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs138264226 CA6675794 |
570 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
CA385894393 rs1454973785 |
571 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA385894431 rs1361505810 |
574 | S>C | No |
ClinGen TOPMed |
|
CA385894446 rs1383304882 |
575 | K>I | No |
ClinGen TOPMed gnomAD |
|
CA385894510 rs1324814676 |
579 | N>D | No |
ClinGen gnomAD |
|
rs749972090 CA6675797 |
581 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1325747299 CA385894596 |
583 | M>T | No |
ClinGen TOPMed |
|
rs1392417267 CA385894583 |
583 | M>V | No |
ClinGen gnomAD |
|
rs1456842370 CA385894629 |
584 | T>P | No |
ClinGen TOPMed |
|
rs1325933269 CA385894667 |
585 | D>V | No |
ClinGen gnomAD |
|
CA385894709 rs1592714941 |
587 | N>S | No |
ClinGen Ensembl |
|
CA6675800 rs751580966 |
590 | I>M | No |
ClinGen ExAC |
|
CA385894790 rs1370520694 |
593 | R>K | No |
ClinGen TOPMed |
|
TCGA novel | 593 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs747908377 CA6675803 |
595 | V>E | No |
ClinGen ExAC gnomAD |
|
CA385894857 rs1592714957 |
598 | K>E | No |
ClinGen Ensembl |
|
CA385894870 rs1428340864 |
599 | L>V | No |
ClinGen TOPMed |
|
rs1427465540 CA385894906 |
601 | S>R | No |
ClinGen gnomAD |
|
CA238193106 rs759178764 |
602 | S>C | No |
ClinGen Ensembl |
No associated diseases with Q92630
Functions
Description | ||
---|---|---|
EC Number | 2.7.12.1 | Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
7 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
ubiquitin ligase complex | A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex. |
7 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
magnesium ion binding | Binding to a magnesium (Mg) ion. |
manganese ion binding | Binding to a manganese ion (Mn). |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
9 GO annotations of biological process
Name | Definition |
---|---|
cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
negative regulation of calcineurin-NFAT signaling cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of the calcineurin-NFAT signaling cascade. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
positive regulation of glycogen biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator. |
smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
10 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q13627 | DYRK1A | Dual specificity tyrosine-phosphorylation-regulated kinase 1A | Homo sapiens (Human) | PR |
Q9H422 | HIPK3 | Homeodomain-interacting protein kinase 3 | Homo sapiens (Human) | SS |
Q8NE63 | HIPK4 | Homeodomain-interacting protein kinase 4 | Homo sapiens (Human) | PR |
Q9H2X6 | HIPK2 | Homeodomain-interacting protein kinase 2 | Homo sapiens (Human) | EV |
Q9NR20 | DYRK4 | Dual specificity tyrosine-phosphorylation-regulated kinase 4 | Homo sapiens (Human) | PR |
Q8BI55 | Dyrk4 | Dual specificity tyrosine-phosphorylation-regulated kinase 4 | Mus musculus (Mouse) | PR |
Q3V016 | Hipk4 | Homeodomain-interacting protein kinase 4 | Mus musculus (Mouse) | PR |
Q61214 | Dyrk1a | Dual specificity tyrosine-phosphorylation-regulated kinase 1A | Mus musculus (Mouse) | PR |
Q9QZR5 | Hipk2 | Homeodomain-interacting protein kinase 2 | Mus musculus (Mouse) | SS |
Q4V793 | Hipk4 | Homeodomain-interacting protein kinase 4 | Rattus norvegicus (Rat) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MLTRKPSAAA | PAAYPTGRGG | DSAVRQLQAS | PGLGAGATRS | GVGTGPPSPI | ALPPLRASNA |
70 | 80 | 90 | 100 | 110 | 120 |
AAAAHTIGGS | KHTMNDHLHV | GSHAHGQIQV | QQLFEDNSNK | RTVLTTQPNG | LTTVGKTGLP |
130 | 140 | 150 | 160 | 170 | 180 |
VVPERQLDSI | HRRQGSSTSL | KSMEGMGKVK | ATPMTPEQAM | KQYMQKLTAF | EHHEIFSYPE |
190 | 200 | 210 | 220 | 230 | 240 |
IYFLGLNAKK | RQGMTGGPNN | GGYDDDQGSY | VQVPHDHVAY | RYEVLKVIGK | GSFGQVVKAY |
250 | 260 | 270 | 280 | 290 | 300 |
DHKVHQHVAL | KMVRNEKRFH | RQAAEEIRIL | EHLRKQDKDN | TMNVIHMLEN | FTFRNHICMT |
310 | 320 | 330 | 340 | 350 | 360 |
FELLSMNLYE | LIKKNKFQGF | SLPLVRKFAH | SILQCLDALH | KNRIIHCDLK | PENILLKQQG |
370 | 380 | 390 | 400 | 410 | 420 |
RSGIKVIDFG | SSCYEHQRVY | TYIQSRFYRA | PEVILGARYG | MPIDMWSLGC | ILAELLTGYP |
430 | 440 | 450 | 460 | 470 | 480 |
LLPGEDEGDQ | LACMIELLGM | PSQKLLDASK | RAKNFVSSKG | YPRYCTVTTL | SDGSVVLNGG |
490 | 500 | 510 | 520 | 530 | 540 |
RSRRGKLRGP | PESREWGNAL | KGCDDPLFLD | FLKQCLEWDP | AVRMTPGQAL | RHPWLRRRLP |
550 | 560 | 570 | 580 | 590 | 600 |
KPPTGEKTSV | KRITESTGAI | TSISKLPPPS | SSASKLRTNL | AQMTDANGNI | QQRTVLPKLV |
S |