O60285
Gene name |
NUAK1 (ARK5, KIAA0537, OMPHK1) |
Protein name |
NUAK family SNF1-like kinase 1 |
Names |
AMPK-related protein kinase 5, ARK5, Omphalocele kinase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9891 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
195-217 (Activation loop from InterPro)
Target domain |
55-306 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

1 structures for O60285
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-O60285-F1 | Predicted | AlphaFoldDB |
516 variants for O60285
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA6760661 rs749623403 |
2 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1157606361 CA386365769 |
3 | G>E | No |
ClinGen gnomAD |
|
CA386365785 CA243166500 rs56402800 |
3 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1418981735 CA386365763 |
4 | A>S | No |
ClinGen gnomAD |
|
CA6760660 rs756547098 |
5 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760659 rs756547098 |
5 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752828561 CA6760658 |
6 | A>T | No |
ClinGen ExAC gnomAD |
|
rs568710120 CA6760657 |
8 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA386365599 COSM1239649 COSM1239648 rs1312786713 |
9 | A>V | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA6760656 rs755035607 |
10 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201298691 CA6760655 |
11 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765123265 CA6760654 |
12 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386365522 rs1359838131 |
13 | P>A | No |
ClinGen TOPMed gnomAD |
|
rs1359838131 CA386365518 |
13 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1259017689 CA386365490 |
14 | D>N | No |
ClinGen gnomAD |
|
CA386365460 rs1236865022 |
15 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs1301728043 CA386365437 |
16 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA386365411 rs1220685109 |
17 | L>M | No |
ClinGen gnomAD |
|
CA6760652 rs375088646 |
19 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
rs1390261166 CA386365280 |
20 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs940897851 CA243166366 |
20 | P>S | No |
ClinGen TOPMed |
|
rs760586653 CA6760650 |
21 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760586653 CA386365246 |
21 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760648 rs369767838 |
22 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs369767838 CA6760647 |
22 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6760646 rs774028905 |
23 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1378024955 CA386365201 |
23 | P>S | No |
ClinGen TOPMed |
|
CA386365216 rs1378024955 |
23 | P>T | No |
ClinGen TOPMed |
|
rs1478048947 CA386365137 |
25 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs1451544030 CA386365148 |
25 | E>K | No |
ClinGen gnomAD |
|
CA386365066 rs1318511676 |
27 | V>G | No |
ClinGen TOPMed |
|
rs1204567033 CA386365063 |
28 | A>T | No |
ClinGen gnomAD |
|
rs1256468216 CA386365036 |
29 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 30 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386364965 rs1565930566 |
31 | T>N | No |
ClinGen Ensembl |
|
CA6760641 rs770046602 |
32 | A>V | No |
ClinGen ExAC gnomAD |
|
CA6760640 rs748601284 |
33 | A>G | No |
ClinGen ExAC gnomAD |
|
CA6760638 rs751592845 |
34 | L>P | No |
ClinGen ExAC gnomAD |
|
CA6760637 rs751592845 |
34 | L>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA386364883 rs1210597698 |
35 | E>D | No |
ClinGen TOPMed |
|
rs1403565470 CA386364856 |
36 | P>R | No |
ClinGen gnomAD |
|
rs1375285471 CA386364747 |
38 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA386364721 rs1169618816 COSM1358417 COSM1358418 |
39 | P>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA386364719 rs1169618816 |
39 | P>Q | No |
ClinGen TOPMed gnomAD |
|
rs1483925718 CA386364649 |
40 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs1371496712 CA386364636 |
41 | G>W | No |
ClinGen gnomAD |
|
CA386364623 rs1192593863 |
42 | V>M | No |
ClinGen gnomAD |
|
rs1427869585 CA386364565 |
44 | R>P | No |
ClinGen TOPMed |
|
TCGA novel | 47 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6760634 rs753715382 |
48 | K>N | No |
ClinGen ExAC gnomAD |
|
rs764152329 CA243166257 |
50 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764152329 CA6760633 |
50 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs55663911 CA243166253 |
51 | L>S | No |
ClinGen Ensembl |
|
CA6760631 rs752539069 COSM1358415 COSM1358416 |
54 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs767237376 CA6760630 |
55 | Y>* | No |
ClinGen ExAC gnomAD |
|
CA6760629 rs759284474 |
56 | E>K | No |
ClinGen ExAC gnomAD |
|
rs774196515 CA6760628 |
58 | Q>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 61 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386364307 rs1226096586 |
61 | L>V | No |
ClinGen gnomAD |
|
CA386364261 rs1294580266 |
65 | T>S | No |
ClinGen gnomAD |
|
TCGA novel | 67 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs770530605 CA6760627 |
70 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs957267584 CA243166209 |
71 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA386364140 rs1398854614 |
74 | E>D | No |
ClinGen TOPMed |
|
TCGA novel | 75 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs773578237 CA6760625 |
78 | G>D | No |
ClinGen ExAC gnomAD |
|
rs762587360 CA6760626 |
78 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386364091 rs1370327590 |
79 | R>G | No |
ClinGen gnomAD |
|
rs770346153 CA6760624 |
79 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA386374757 rs1476890398 |
81 | V>A | No |
ClinGen TOPMed |
|
CA6760606 rs772812830 |
81 | V>F | No |
ClinGen ExAC gnomAD |
|
rs765614152 CA6760605 |
86 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760603 rs188490096 |
87 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6760604 rs188490096 |
87 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6760602 rs769008203 |
87 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6760599 CA386374707 rs772345606 |
89 | D>E | No |
ClinGen ExAC gnomAD |
|
CA6760600 rs775635190 |
89 | D>G | No |
ClinGen ExAC gnomAD |
|
CA6760601 rs775635190 |
89 | D>V | No |
ClinGen ExAC gnomAD |
|
CA243183903 rs944516685 |
91 | I>T | No |
ClinGen TOPMed |
|
rs1362871677 CA386374690 |
92 | K>Q | No |
ClinGen TOPMed |
|
rs907646372 CA243183899 |
93 | D>G | No |
ClinGen TOPMed |
|
CA386374664 rs1427129756 |
95 | Q>P | No |
ClinGen Ensembl |
|
CA6760596 rs147433989 |
97 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA386374639 rs1279338206 |
99 | H>N | No |
ClinGen gnomAD |
|
CA386374637 rs1279338206 |
99 | H>Y | No |
ClinGen gnomAD |
|
rs748063288 CA6760595 |
101 | R>* | No |
ClinGen ExAC gnomAD |
|
CA6760594 rs781345878 |
102 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 103 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386374613 rs1440404833 |
103 | E>Q | No |
ClinGen gnomAD |
|
CA386374604 rs1224777821 |
104 | I>F | No |
ClinGen TOPMed |
|
rs551240873 CA243183861 |
104 | I>T | No |
ClinGen Ensembl |
|
CA243183860 rs373458255 |
106 | I>N | No |
ClinGen Ensembl |
|
rs1389548100 CA386374591 |
106 | I>V | No |
ClinGen gnomAD |
|
rs1345074497 COSM1298863 CA386374564 COSM1298864 |
110 | L>V | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs1278047844 CA386374552 |
111 | N>K | No |
ClinGen TOPMed |
|
rs1218595937 CA386374555 |
111 | N>S | No |
ClinGen TOPMed |
|
rs1402379967 CA386374547 |
112 | H>R | No |
ClinGen gnomAD |
|
TCGA novel | 118 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386374497 rs1382621935 |
119 | Y>C | No |
ClinGen gnomAD |
|
rs1157810013 CA386374484 |
121 | V>M | No |
ClinGen gnomAD |
|
TCGA novel | 122 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386372992 rs1188908140 |
123 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1341114266 CA386372977 |
124 | N>K | No |
ClinGen TOPMed |
|
CA386372964 rs1214778517 |
126 | D>G | No |
ClinGen TOPMed |
|
rs1486938928 CA386372967 |
126 | D>H | No |
ClinGen gnomAD |
|
TCGA novel | 126 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386372951 rs1481807067 |
128 | I>V | No |
ClinGen TOPMed |
|
rs779167409 CA243165770 |
130 | I>F | No |
ClinGen Ensembl |
|
rs1592851735 CA386372932 |
131 | I>F | No |
ClinGen Ensembl |
|
CA386372921 rs1210541825 |
132 | M>T | No |
ClinGen gnomAD |
|
CA6760556 rs557272627 COSM691456 COSM691455 |
134 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1213000118 CA386372896 |
135 | A>V | No |
ClinGen gnomAD |
|
rs1338881094 CA386372888 |
136 | S>R | No |
ClinGen gnomAD |
|
CA386372868 rs1284844232 |
139 | E>G | No |
ClinGen gnomAD |
|
TCGA novel | 140 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs753190492 CA6760552 |
142 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs964345836 CA243165705 |
144 | I>V | No |
ClinGen TOPMed |
|
rs1322837007 CA386372814 |
146 | E>K | No |
ClinGen gnomAD |
|
CA6760547 rs763058439 |
147 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
COSM934354 rs771291112 CA6760548 COSM934355 |
147 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA6760546 rs773455181 |
148 | R>* | No |
ClinGen ExAC gnomAD |
|
CA386372786 rs770050415 |
148 | R>P | No |
ClinGen ExAC gnomAD |
|
CA6760545 rs770050415 |
148 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs779923959 CA6760544 |
149 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM1259678 CA6760542 rs771887610 COSM1259679 |
149 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
COSM1476074 COSM1476075 rs779923959 CA6760543 |
149 | R>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1037908398 CA243165609 |
151 | S>G | No |
ClinGen gnomAD |
|
rs1320753304 CA386372740 |
152 | E>D | No |
ClinGen TOPMed |
|
CA6760540 rs778565564 |
153 | R>M | No |
ClinGen ExAC gnomAD |
|
rs1008405329 CA243165593 |
155 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA386372694 rs1592851695 |
155 | T>P | No |
ClinGen Ensembl |
|
rs1379241199 CA386372673 |
156 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1565921056 CA386372674 |
156 | R>W | No |
ClinGen Ensembl |
|
rs943516070 CA243165580 |
158 | F>C | No |
ClinGen Ensembl |
|
rs377356382 CA6760539 |
160 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA243165551 rs752482605 COSM1663170 COSM1663171 |
160 | R>W | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA243165531 rs267603280 |
162 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs139582229 COSM200339 COSM200340 CA6760537 |
163 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA6760536 rs755658642 |
167 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760534 rs767962701 |
168 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs112658697 | 172 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA386372006 rs1289514577 |
172 | N>Y | No |
ClinGen TOPMed |
|
rs1011001756 CA243162937 |
173 | G>S | No |
ClinGen TOPMed |
|
rs765570986 CA6760511 |
174 | V>M | No |
ClinGen ExAC gnomAD |
|
rs761888968 CA6760510 |
176 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1303995716 CA386371918 |
177 | R>Q | No |
ClinGen TOPMed |
|
rs776610014 CA6760509 |
177 | R>W | No |
ClinGen ExAC gnomAD |
|
CA386371813 rs1352780890 |
182 | E>D | No |
ClinGen gnomAD |
|
CA386371771 rs1324739837 |
184 | I>T | No |
ClinGen TOPMed |
|
CA386371728 rs770705202 |
187 | D>H | No |
ClinGen ExAC gnomAD |
|
COSM934352 COSM934353 rs770705202 CA6760505 |
187 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs940668263 CA243162893 |
188 | D>N | No |
ClinGen TOPMed |
|
rs749134438 CA6760504 |
189 | N>S | No |
ClinGen ExAC gnomAD |
|
rs534706842 CA243162887 |
191 | N>S | No |
ClinGen 1000Genomes |
|
CA386371592 rs1364733630 |
192 | I>M | No |
ClinGen gnomAD |
|
CA386370128 rs1196074651 |
194 | I>V | No |
ClinGen gnomAD |
|
rs1180719772 CA386370117 |
195 | A>T | No |
ClinGen TOPMed |
|
CA243152923 rs571452019 |
195 | A>V | No |
ClinGen Ensembl |
|
CA386370064 rs1217424346 |
199 | L>F | No |
ClinGen gnomAD |
|
rs1388269375 COSM1706200 COSM1706201 CA386370035 |
201 | N>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA386370021 rs1295696054 |
202 | L>R | No |
ClinGen gnomAD |
|
CA6760476 rs368073167 |
204 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs545166073 CA243152876 |
205 | K>T | No |
ClinGen 1000Genomes |
|
CA6760475 rs746190784 |
206 | D>G | No |
ClinGen ExAC |
|
rs753998943 CA6760472 |
210 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753998943 CA6760473 |
210 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386369920 rs1394535554 |
211 | T>R | No |
ClinGen gnomAD |
|
TCGA novel | 213 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs998656178 CA243152850 |
218 | Y>C | No |
ClinGen Ensembl |
|
CA386369865 rs1458857778 |
219 | A>V | No |
ClinGen TOPMed |
|
rs752774711 CA6760469 |
223 | I>V | No |
ClinGen ExAC gnomAD |
|
CA386369828 rs1488532321 |
225 | N>S | No |
ClinGen TOPMed |
|
CA386369815 rs1182176128 |
227 | R>T | No |
ClinGen gnomAD |
|
rs764908737 CA6760465 |
230 | R>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 236 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs777260764 CA386369723 |
239 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759171465 CA6760440 |
247 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1565918260 CA386369667 |
248 | Y>D | No |
ClinGen Ensembl |
|
rs1344362979 CA386369657 |
249 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA386369641 rs1375549777 |
251 | M>I | No |
ClinGen gnomAD |
|
CA243151708 rs868782587 |
252 | P>L | No |
ClinGen Ensembl |
|
rs1177821671 CA386369638 |
252 | P>S | No |
ClinGen gnomAD |
|
COSM934346 COSM934347 CA6760437 rs749572189 |
254 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs773648313 CA6760436 |
255 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386369610 rs1440281975 |
256 | F>C | No |
ClinGen TOPMed |
|
rs55667101 CA243151670 |
256 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs981002959 CA243151660 |
257 | D>G | No |
ClinGen TOPMed |
|
rs748336286 CA6760434 |
257 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs748336286 CA386369607 |
257 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs141538558 CA6760433 |
258 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6760431 rs747119666 |
259 | K>E | No |
ClinGen ExAC gnomAD |
|
CA6760430 rs376406542 |
260 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1315538458 CA386369579 |
261 | L>F | No |
ClinGen TOPMed |
|
CA6760428 COSM276413 rs753772566 COSM276414 |
263 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs757243977 CA6760429 |
263 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs756042950 CA6760426 |
268 | G>* | No |
ClinGen ExAC gnomAD |
|
CA6760425 rs752380797 |
268 | G>V | No |
ClinGen ExAC gnomAD |
|
CA6760423 rs759046362 |
271 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760424 rs370122763 |
271 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1003510033 CA243151596 |
273 | P>A | No |
ClinGen Ensembl |
|
CA386369427 rs1210218636 |
274 | T>A | No |
ClinGen gnomAD |
|
CA386369422 rs1271998730 |
274 | T>I | No |
ClinGen gnomAD |
|
rs766746646 CA6760421 |
275 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386369338 rs1338264556 |
278 | D>Y | No |
ClinGen gnomAD |
|
rs1324051870 CA386368138 |
280 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA243149817 rs960012986 |
280 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs765739015 CA6760400 |
281 | G>E | No |
ClinGen ExAC gnomAD |
|
rs765739015 CA386368127 |
281 | G>V | No |
ClinGen ExAC gnomAD |
|
CA386368093 rs1273871319 |
284 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA386368097 rs1457413285 |
284 | R>W | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 286 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1336771458 CA386368045 |
288 | M>R | No |
ClinGen gnomAD |
|
CA386368031 rs1592846874 |
289 | V>G | No |
ClinGen Ensembl |
|
CA386368017 rs1592846869 |
290 | N>K | No |
ClinGen Ensembl |
|
CA386368021 rs1592846872 |
290 | N>T | No |
ClinGen Ensembl |
|
rs775646302 CA6760395 |
292 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM225334 rs546010292 CA6760396 COSM225333 |
292 | D>N | Variant assessed as Somatic; 0.0 impact. NS large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs772183684 CA6760394 |
293 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA243149750 rs201088258 |
293 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA6760393 rs375824826 |
294 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs747899336 CA6760390 |
297 | I>T | No |
ClinGen ExAC gnomAD |
|
CA6760391 rs769881661 |
297 | I>V | Variant assessed as Somatic; 0.0001849 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 299 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386367899 rs1164558207 |
300 | I>V | No |
ClinGen gnomAD |
|
rs781111029 CA6760389 |
302 | N>H | No |
ClinGen ExAC gnomAD |
|
rs751220510 CA6760387 |
302 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760388 rs754767637 |
302 | N>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 303 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386367826 rs1187889590 |
303 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA386367725 rs1592846832 |
306 | V>G | No |
ClinGen Ensembl |
|
CA243149715 rs55850452 |
307 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA386367719 rs1439310511 |
307 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs757859531 CA6760385 |
309 | G>D | No |
ClinGen ExAC gnomAD |
|
rs749967228 CA6760384 |
310 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 312 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1458958342 CA386367541 |
314 | V>M | No |
ClinGen TOPMed |
|
rs754386273 CA6760381 |
316 | D>V | No |
ClinGen ExAC gnomAD |
|
rs879080527 CA243149661 |
318 | D>V | No |
ClinGen TOPMed |
|
CA386367435 rs764516584 |
319 | A>D | No |
ClinGen ExAC gnomAD |
|
rs764516584 CA6760380 |
319 | A>V | No |
ClinGen ExAC gnomAD |
|
CA6760379 rs761006444 |
320 | L>F | No |
ClinGen ExAC |
|
CA243149652 rs905955696 |
322 | D>V | No |
ClinGen gnomAD |
|
CA6760378 rs775727576 |
323 | S>T | No |
ClinGen ExAC gnomAD |
|
CA6760377 rs772185238 |
325 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs1364841523 CA386367394 |
326 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1364841523 CA386367393 |
326 | P>Q | No |
ClinGen TOPMed gnomAD |
|
rs890806490 CA243149621 |
326 | P>S | No |
ClinGen TOPMed |
|
CA6760374 rs759616422 |
327 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1347388206 CA386367380 |
329 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs748065457 CA6760371 |
330 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs771180903 CA6760372 COSM934342 COSM934343 |
330 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA6760369 rs768485077 |
332 | I>L | No |
ClinGen ExAC gnomAD |
|
CA386367248 rs1431553744 |
337 | R>C | No |
ClinGen gnomAD |
|
rs1266733924 CA386367246 |
337 | R>H | No |
ClinGen gnomAD |
|
CA6760368 rs746793160 |
338 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 340 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386367209 rs1232609591 |
341 | L>Q | No |
ClinGen TOPMed gnomAD |
|
CA386367194 rs1214115854 |
342 | Q>H | No |
ClinGen gnomAD |
|
CA6760365 rs750127082 |
344 | D>G | No |
ClinGen ExAC gnomAD |
|
CA386367127 rs1234929060 |
345 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1565917642 CA386367105 |
346 | E>G | No |
ClinGen Ensembl |
|
rs374885903 CA6760363 |
346 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs1215675081 CA386367079 |
347 | A>V | No |
ClinGen gnomAD |
|
rs774044844 CA243149578 |
352 | L>P | No |
ClinGen Ensembl |
|
CA386366937 rs761030245 |
353 | A>S | No |
ClinGen ExAC gnomAD |
|
rs761030245 CA6760360 |
353 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1376413477 CA386366928 |
354 | K>E | No |
ClinGen gnomAD |
|
rs1442683209 CA386366896 |
355 | P>S | No |
ClinGen TOPMed |
|
rs753030924 COSM1289672 COSM1289673 CA6760359 |
356 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1428816207 CA386366803 |
360 | V>A | No |
ClinGen TOPMed |
|
CA386366816 rs1429069908 |
360 | V>I | No |
ClinGen gnomAD |
|
rs774753144 CA6760356 |
361 | M>I | No |
ClinGen ExAC gnomAD |
|
rs574902249 CA243149549 |
362 | L>I | No |
ClinGen 1000Genomes TOPMed |
|
CA386366747 rs1565917617 |
362 | L>P | No |
ClinGen Ensembl |
|
COSM117198 rs145399889 CA6760354 |
364 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA6760355 COSM240939 rs147705634 COSM240940 |
364 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs768508553 CA6760352 |
366 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
COSM200334 rs941006183 COSM200335 CA243149526 |
366 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA386366658 rs1592846738 |
367 | S>A | No |
ClinGen Ensembl |
|
COSM1358406 CA6760350 COSM1358405 rs139881229 |
367 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA386366535 rs1218539974 |
374 | E>G | No |
ClinGen gnomAD |
|
CA386366523 rs1356569162 |
375 | N>T | No |
ClinGen gnomAD |
|
CA6760345 rs748804361 |
379 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756703559 CA6760346 |
379 | Q>L | No |
ClinGen ExAC |
|
CA386366479 rs1484026982 |
381 | G>V | No |
ClinGen TOPMed |
|
rs778299911 CA6760344 |
384 | A>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 386 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1200591559 CA386366446 |
386 | P>L | No |
ClinGen TOPMed |
|
rs1463625642 CA386366422 |
390 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA6760342 rs753293421 |
391 | K>M | No |
ClinGen ExAC gnomAD |
|
CA386366414 rs753293421 |
391 | K>R | No |
ClinGen ExAC gnomAD |
|
rs148697405 CA243149485 |
392 | L>V | No |
ClinGen ESP TOPMed |
|
CA386366389 rs1477449937 |
395 | K>E | No |
ClinGen gnomAD |
|
rs1418317423 CA386366376 |
396 | R>S | No |
ClinGen gnomAD |
|
CA6760341 rs767739254 |
397 | P>S | No |
ClinGen ExAC gnomAD |
|
CA6760339 rs751816829 |
403 | K>E | No |
ClinGen ExAC gnomAD |
|
CA6760338 rs142935663 COSM109136 |
404 | R>Q | skin Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
CA386366322 rs1379651915 |
405 | S>N | No |
ClinGen TOPMed |
|
CA386366316 rs1458750708 |
406 | N>D | No |
ClinGen TOPMed gnomAD |
|
rs763058664 CA386366310 |
406 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368677538 CA6760336 |
407 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs988961079 CA386366301 |
408 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs988961079 COSM934339 CA243149426 COSM934338 |
408 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs370958059 CA6760333 |
410 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1218016 COSM1218015 rs771843801 CA6760332 |
410 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
CA6760331 rs538221704 |
411 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1303842096 CA386366273 |
412 | H>L | No |
ClinGen TOPMed |
|
CA6760328 rs202168878 |
417 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs202168878 CA6760329 |
417 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
VAR_040963 rs55774704 CA243149323 |
419 | G>D | No |
ClinGen UniProt Ensembl dbSNP |
|
CA386366220 rs1592846676 |
420 | V>G | No |
ClinGen Ensembl |
|
rs777121945 CA6760327 |
420 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 421 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs144124030 CA6760326 |
422 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs748596334 CA6760325 |
424 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1033236467 CA243149313 |
425 | L>S | No |
ClinGen Ensembl |
|
rs760814933 CA6760324 |
426 | P>A | No |
ClinGen ExAC gnomAD |
|
CA386366189 rs1395068391 |
426 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA243149309 rs760814933 |
426 | P>S | No |
ClinGen ExAC gnomAD |
|
CA6760323 rs760814933 |
426 | P>T | No |
ClinGen ExAC gnomAD |
|
CA386366183 rs1456237104 |
427 | S>F | No |
ClinGen gnomAD |
|
TCGA novel | 429 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA243149304 rs559454484 |
430 | K>N | No |
ClinGen gnomAD |
|
rs751977714 CA6760322 |
432 | E>Q | No |
ClinGen ExAC |
|
CA6760321 rs780375162 |
433 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs765230050 CA6760318 |
434 | D>E | No |
ClinGen ExAC gnomAD |
|
rs750699063 CA6760319 |
434 | D>G | No |
ClinGen ExAC gnomAD |
|
rs762013451 CA6760317 |
435 | L>F | No |
ClinGen ExAC |
|
rs752522185 CA6760316 |
437 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA243149272 rs994230233 |
437 | R>M | No |
ClinGen TOPMed |
|
CA243149269 rs898106278 |
437 | R>S | No |
ClinGen TOPMed gnomAD |
|
rs759290535 CA386366086 |
439 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759290535 CA6760314 |
439 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386366073 rs1351714295 |
440 | V>G | No |
ClinGen gnomAD |
|
rs1022920336 CA243149257 |
440 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA6760312 rs770758232 |
442 | L>F | No |
ClinGen ExAC gnomAD |
|
CA243149244 rs749654957 |
443 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1458873105 COSM430222 COSM430223 CA386366010 |
443 | P>S | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA243149242 rs1038340199 |
445 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA386365943 rs1452278544 |
447 | E>G | No |
ClinGen TOPMed |
|
TCGA novel | 448 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386365891 rs1384994807 |
450 | V>E | No |
ClinGen gnomAD |
|
rs747705556 CA6760308 |
451 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6760309 rs769172384 |
451 | P>S | No |
ClinGen ExAC gnomAD |
|
CA386365829 rs1157642732 |
452 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs769318013 CA6760306 |
453 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs747568443 CA6760305 |
453 | K>R | No |
ClinGen ExAC gnomAD |
|
CA386365787 rs1197452411 |
454 | L>P | No |
ClinGen gnomAD |
|
rs758901008 CA6760303 |
456 | P>R | No |
ClinGen ExAC gnomAD |
|
CA386365723 COSM1706195 COSM1706194 rs1375542497 |
456 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA386365657 rs373657293 |
458 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
CA243149211 rs373657293 |
458 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
CA243149210 rs1038316952 |
459 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1487450986 CA386365616 |
459 | S>P | No |
ClinGen gnomAD |
|
rs1592846577 CA386365607 |
460 | A>T | No |
ClinGen Ensembl |
|
rs757219955 COSM1476073 COSM1476072 CA6760300 |
461 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs779212474 CA6760301 |
461 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 462 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386365540 rs1325633815 |
462 | M>L | No |
ClinGen gnomAD |
|
TCGA novel | 463 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759443668 CA6760297 |
469 | K>T | No |
ClinGen ExAC gnomAD |
|
rs766156436 CA6760295 |
471 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386365064 rs1297259058 |
474 | R>G | No |
ClinGen gnomAD |
|
rs967772508 CA243149190 |
480 | S>F | No |
ClinGen TOPMed |
|
COSM1732774 CA6760293 rs772681107 COSM1732775 |
484 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs111758972 RCV000965249 CA6760292 |
484 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1170229574 CA386364645 |
485 | S>G | No |
ClinGen gnomAD |
|
CA6760290 rs200489873 |
488 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6760291 rs200489873 |
488 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA386364472 rs979077065 |
492 | D>N | No |
ClinGen TOPMed |
|
CA243149172 rs979077065 |
492 | D>Y | No |
ClinGen TOPMed |
|
CA6760288 rs747515410 |
493 | S>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 493 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6760287 rs780767441 |
494 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386364432 rs1417352690 |
494 | N>S | No |
ClinGen TOPMed |
|
TCGA novel | 496 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386364384 rs1278818503 |
497 | M>I | No |
ClinGen gnomAD |
|
CA386364390 rs1340117815 |
497 | M>K | No |
ClinGen gnomAD |
|
rs376346267 CA6760285 |
497 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA386364376 rs1220374576 |
498 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA243149165 rs368877617 |
498 | G>R | No |
ClinGen Ensembl |
|
rs201594672 CA6760283 CA6760284 |
499 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA386364350 rs1448313760 |
500 | S>I | No |
ClinGen gnomAD |
|
CA386364327 rs1279733898 |
502 | P>H | No |
ClinGen TOPMed |
|
CA386364325 rs1279733898 |
502 | P>L | No |
ClinGen TOPMed |
|
CA386364331 rs1331669032 |
502 | P>S | No |
ClinGen gnomAD |
|
rs777795435 CA6760281 |
503 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1592846512 CA386364314 |
503 | S>P | No |
ClinGen Ensembl |
|
CA386364309 rs1173528526 |
504 | P>A | No |
ClinGen gnomAD |
|
CA6760280 rs756250055 |
504 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1473915287 CA386364289 |
505 | S>I | No |
ClinGen gnomAD |
|
CA386364298 rs1210386962 |
505 | S>R | No |
ClinGen gnomAD |
|
CA6760275 rs750262992 |
507 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760276 rs750262992 |
507 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 507 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386364252 rs1592846491 |
508 | D>A | No |
ClinGen Ensembl |
|
rs1592846484 CA386364230 |
510 | A>G | No |
ClinGen Ensembl |
|
rs763685502 CA6760271 |
511 | R>G | No |
ClinGen ExAC gnomAD |
|
CA6760269 rs776076144 |
512 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1017175054 CA243149045 |
513 | T>I | No |
ClinGen Ensembl |
|
CA6760268 rs772669640 |
513 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774760278 CA6760266 |
514 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760267 rs76743942 |
514 | S>P | No |
ClinGen ExAC gnomAD |
|
CA6760265 rs115159926 |
515 | H>P | No |
ClinGen ExAC gnomAD |
|
CA386364176 rs115159926 |
515 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1565917424 CA386364159 |
516 | S>R | No |
ClinGen Ensembl |
|
CA386364154 rs1592846464 |
517 | L>V | No |
ClinGen Ensembl |
|
CA6760263 rs778025072 |
518 | S>F | No |
ClinGen ExAC gnomAD |
|
CA386364116 rs1166066281 |
519 | C>S | No |
ClinGen gnomAD |
|
CA6760260 rs117517173 |
520 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs374659997 CA6760261 |
520 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs750367833 CA6760258 |
527 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs765077418 CA6760257 CA386364025 |
528 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386364014 rs1458864737 |
530 | K>* | No |
ClinGen Ensembl |
|
CA6760255 rs112197976 |
533 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA386363984 rs1222194861 |
534 | G>V | No |
ClinGen gnomAD |
|
rs760225538 CA6760253 |
535 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA243148992 rs938846208 |
536 | M>T | No |
ClinGen TOPMed |
|
rs775166034 CA6760252 |
537 | D>E | No |
ClinGen ExAC gnomAD |
|
rs766989137 CA6760251 |
539 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA243148967 rs946121044 |
542 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA6760248 rs3741883 |
543 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6760247 VAR_017246 rs3741883 |
543 | P>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA386363911 rs1294686966 |
543 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs773354501 CA6760246 |
545 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1164446129 CA386363869 |
546 | P>A | No |
ClinGen gnomAD |
|
rs1420558174 CA386363860 |
547 | T>A | No |
ClinGen gnomAD |
|
rs1382357992 CA386363853 |
547 | T>I | No |
ClinGen gnomAD |
|
TCGA novel | 549 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6760244 rs748176544 |
551 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1425947536 CA386363796 |
553 | E>G | No |
ClinGen gnomAD |
|
rs781309800 CA6760243 |
554 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386363788 rs1191768372 |
554 | P>S | No |
ClinGen gnomAD |
|
rs1244780590 CA386363772 |
555 | G>V | No |
ClinGen gnomAD |
|
rs1565917363 CA386363741 |
557 | P>L | No |
ClinGen Ensembl |
|
rs1182316747 CA386363751 |
557 | P>T | No |
ClinGen TOPMed |
|
CA386363732 rs1488431371 |
558 | A>D | No |
ClinGen gnomAD |
|
rs757047758 CA6760239 |
559 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386363726 rs757047758 |
559 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760240 rs757047758 |
559 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386363679 rs1592846383 |
562 | S>Y | No |
ClinGen Ensembl |
|
rs755809583 CA6760236 |
563 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1510838 rs777522611 CA6760237 COSM1510837 |
563 | R>W | lung Variant assessed as Somatic; 4.623e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1293338483 CA386363643 |
565 | Y>C | No |
ClinGen gnomAD |
|
rs767053893 CA6760234 |
566 | S>R | No |
ClinGen ExAC gnomAD |
|
CA6760233 COSM1706191 rs759029750 COSM1706190 |
567 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs752050315 CA6760232 |
567 | R>H | Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1178254979 CA386363606 |
568 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA6760228 rs770193954 |
571 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760229 rs773589766 |
571 | V>I | No |
ClinGen ExAC gnomAD |
|
CA243148906 rs200755374 |
572 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA6760226 rs186215853 |
574 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA243148898 rs186215853 |
574 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6760225 COSM1193377 COSM1193378 rs768722408 |
577 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs540753037 CA386363459 |
580 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6760223 rs778868101 |
581 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1342855138 CA386363447 |
582 | S>Y | No |
ClinGen TOPMed gnomAD |
|
rs1468866803 CA386363440 |
583 | F>S | No |
ClinGen TOPMed |
|
CA386363389 rs1592846343 |
590 | E>G | No |
ClinGen Ensembl |
|
rs777676118 CA6760220 |
592 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760219 COSM934330 rs147065969 COSM934331 |
592 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1347505753 CA386363369 |
593 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1464645111 CA386363367 |
594 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA386363362 rs1324493779 |
594 | A>V | No |
ClinGen TOPMed |
|
rs552751383 CA6760218 |
595 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1259674 rs141618950 COSM1259675 CA6760217 |
595 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs141618950 CA6760216 |
595 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6760215 rs200179138 |
597 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6760214 rs200668694 |
597 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA243148846 rs200668694 |
597 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs147896976 CA6760211 |
599 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs762178790 COSM673559 COSM673558 CA6760210 |
599 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs776844714 CA6760209 |
600 | S>G | No |
ClinGen ExAC gnomAD |
|
CA386363334 rs1199831417 |
600 | S>N | No |
ClinGen gnomAD |
|
rs1227100746 CA386363317 |
602 | V>A | No |
ClinGen gnomAD |
|
CA6760207 rs201685343 |
602 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs553121163 CA6760205 |
606 | N>D | No |
ClinGen 1000Genomes ExAC |
|
CA6760201 rs769658123 |
610 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386363254 rs1402315195 |
611 | Q>R | No |
ClinGen gnomAD |
|
CA243148798 rs536423988 |
614 | E>G | No |
ClinGen 1000Genomes |
|
rs747902749 CA6760200 |
615 | G>R | No |
ClinGen ExAC TOPMed |
|
rs1168408287 CA386363199 |
615 | G>V | No |
ClinGen gnomAD |
|
rs371574217 CA6760199 |
616 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 617 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs754610277 CA6760198 |
617 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201772373 CA6760197 |
618 | N>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
CA243148740 rs372340813 |
619 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6760195 rs757960457 |
619 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6760196 rs372340813 |
619 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA386363069 rs1336452571 |
620 | P>L | No |
ClinGen TOPMed |
|
CA6760191 rs374349573 |
621 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6760192 rs757600015 |
621 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA386363018 rs1223760914 |
622 | P>H | No |
ClinGen TOPMed |
|
CA6760189 rs760774600 |
625 | L>P | No |
ClinGen ExAC TOPMed |
|
rs1437952591 CA386362906 |
626 | K>M | No |
ClinGen TOPMed |
|
CA6760186 rs767695462 |
627 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760187 rs775916862 |
627 | R>W | No |
ClinGen ExAC gnomAD |
|
rs142652201 CA6760184 |
629 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs151011578 CA6760185 |
629 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs568713265 CA6760183 |
630 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6760181 rs776270199 |
631 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6760182 rs552453023 |
631 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA386362774 rs1384179436 |
633 | A>G | No |
ClinGen gnomAD |
|
rs746637932 CA6760179 |
638 | S>A | No |
ClinGen ExAC |
|
CA386362630 rs1390956618 |
638 | S>C | No |
ClinGen TOPMed |
|
rs779695417 CA6760178 |
641 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1452631825 CA386362428 |
645 | D>G | No |
ClinGen gnomAD |
|
CA6760177 rs757835723 |
647 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1314904874 CA386362397 |
648 | Q>* | No |
ClinGen TOPMed |
|
rs1208388075 CA386362391 |
648 | Q>H | No |
ClinGen gnomAD |
|
rs779341973 CA6760175 |
650 | Y>* | No |
ClinGen ExAC gnomAD |
|
CA243148612 rs61732796 |
651 | K>N | No |
ClinGen Ensembl |
|
TCGA novel rs1242563447 CA386362339 |
652 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
rs757681052 CA6760174 |
653 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 658 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6760171 rs756555513 |
661 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with O60285
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
5 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
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. |
5 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. |
p53 binding | Binding to one of the p53 family of proteins. |
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. |
10 GO annotations of biological process
Name | Definition |
---|---|
cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
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. |
cellular response to glucose starvation | 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 deprivation of glucose. |
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. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of cell adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. |
regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
regulation of cellular senescence | Any process that modulates the frequency, rate or extent of cellular senescence. |
regulation of myosin-light-chain-phosphatase activity | Any process that modulates the frequency, rate or extent of myosin-light-chain-phosphatase activity. |
regulation of signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator. |
34 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P06782 | SNF1 | Carbon catabolite-derepressing protein kinase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | EV |
O14757 | CHEK1 | Serine/threonine-protein kinase Chk1 | Homo sapiens (Human) | EV |
Q8IWQ3 | BRSK2 | Serine/threonine-protein kinase BRSK2 | Homo sapiens (Human) | PR |
Q8TDC3 | BRSK1 | Serine/threonine-protein kinase BRSK1 | Homo sapiens (Human) | SS |
Q14680 | MELK | Maternal embryonic leucine zipper kinase | Homo sapiens (Human) | EV |
P57059 | SIK1 | Serine/threonine-protein kinase SIK1 | Homo sapiens (Human) | PR |
Q9NRH2 | SNRK | SNF-related serine/threonine-protein kinase | Homo sapiens (Human) | SS |
Q9BXA7 | TSSK1B | Testis-specific serine/threonine-protein kinase 1 | Homo sapiens (Human) | PR |
Q13131 | PRKAA1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Homo sapiens (Human) | EV |
P54646 | PRKAA2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Homo sapiens (Human) | EV |
Q8C0X8 | Sperm motility kinase X | Mus musculus (Mouse) | PR | |
A0AUV4 | Gm7168 | Sperm motility kinase Y | Mus musculus (Mouse) | PR |
Q8C0N0 | Gm4922 | Sperm motility kinase Z | Mus musculus (Mouse) | PR |
Q641K5 | Nuak1 | NUAK family SNF1-like kinase 1 | Mus musculus (Mouse) | PR |
A2KF29 | Smoktcr | Sperm motility kinase Tcr mutant form | Mus musculus (Mouse) | PR |
Q5QNM6 | CIPK13 | Putative CBL-interacting protein kinase 13 | Oryza sativa subsp japonica (Rice) | PR |
Q5JLQ9 | CIPK30 | CBL-interacting protein kinase 30 | Oryza sativa subsp japonica (Rice) | PR |
Q8LIG4 | CIPK3 | CBL-interacting protein kinase 3 | Oryza sativa subsp japonica (Rice) | PR |
Q6ERS4 | CIPK16 | CBL-interacting protein kinase 16 | Oryza sativa subsp japonica (Rice) | PR |
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 |
Q6ZLP5 | CIPK23 | CBL-interacting protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
Q2QY53 | CIPK32 | CBL-interacting protein kinase 32 | Oryza sativa subsp japonica (Rice) | PR |
Q2RAX3 | CIPK33 | CBL-interacting protein kinase 33 | Oryza sativa subsp japonica (Rice) | PR |
Q9LDI3 | CIPK24 | CBL-interacting serine/threonine-protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O22971 | CIPK13 | CBL-interacting serine/threonine-protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O65554 | CIPK6 | CBL-interacting serine/threonine-protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q93VD3 | CIPK23 | CBL-interacting serine/threonine-protein kinase 23 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q94CG0 | CIPK21 | CBL-interacting serine/threonine-protein kinase 21 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FJ54 | CIPK20 | CBL-interacting serine/threonine-protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FLZ3 | KIN12 | SNF1-related protein kinase catalytic subunit alpha KIN12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q2V452 | CIPK3 | CBL-interacting serine/threonine-protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
P92958 | KIN11 | SNF1-related protein kinase catalytic subunit alpha KIN11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q38997 | KIN10 | SNF1-related protein kinase catalytic subunit alpha KIN10 | Arabidopsis thaliana (Mouse-ear cress) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MEGAAAPVAG | DRPDLGLGAP | GSPREAVAGA | TAALEPRKPH | GVKRHHHKHN | LKHRYELQET |
70 | 80 | 90 | 100 | 110 | 120 |
LGKGTYGKVK | RATERFSGRV | VAIKSIRKDK | IKDEQDMVHI | RREIEIMSSL | NHPHIISIYE |
130 | 140 | 150 | 160 | 170 | 180 |
VFENKDKIVI | IMEYASKGEL | YDYISERRRL | SERETRHFFR | QIVSAVHYCH | KNGVVHRDLK |
190 | 200 | 210 | 220 | 230 | 240 |
LENILLDDNC | NIKIADFGLS | NLYQKDKFLQ | TFCGSPLYAS | PEIVNGRPYR | GPEVDSWALG |
250 | 260 | 270 | 280 | 290 | 300 |
VLLYTLVYGT | MPFDGFDHKN | LIRQISSGEY | REPTQPSDAR | GLIRWMLMVN | PDRRATIEDI |
310 | 320 | 330 | 340 | 350 | 360 |
ANHWWVNWGY | KSSVCDCDAL | HDSESPLLAR | IIDWHHRSTG | LQADTEAKMK | GLAKPTTSEV |
370 | 380 | 390 | 400 | 410 | 420 |
MLERQRSLKK | SKKENDFAQS | GQDAVPESPS | KLSSKRPKGI | LKKRSNSEHR | SHSTGFIEGV |
430 | 440 | 450 | 460 | 470 | 480 |
VGPALPSTFK | MEQDLCRTGV | LLPSSPEAEV | PGKLSPKQSA | TMPKKGILKK | TQQRESGYYS |
490 | 500 | 510 | 520 | 530 | 540 |
SPERSESSEL | LDSNDVMGSS | IPSPSPPDPA | RVTSHSLSCR | RKGILKHSSK | YSAGTMDPAL |
550 | 560 | 570 | 580 | 590 | 600 |
VSPEMPTLES | LSEPGVPAEG | LSRSYSRPSS | VISDDSVLSS | DSFDLLDLQE | NRPARQRIRS |
610 | 620 | 630 | 640 | 650 | 660 |
CVSAENFLQI | QDFEGLQNRP | RPQYLKRYRN | RLADSSFSLL | TDMDDVTQVY | KQALEICSKL |
N |