Q92772
PR
Gene name |
CDKL2 |
Protein name |
Cyclin-dependent kinase-like 2 |
Names |
Protein kinase p56 KKIAMRE, Serine/threonine-protein kinase KKIAMRE |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8999 |
EC number |
2.7.11.22: 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
143-166 (Activation loop from InterPro)
Target domain |
4-287 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
3 structures for Q92772
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4AAA | X-ray | 153 A | A | 1-308 | PDB |
| 4BBM | X-ray | 200 A | A/B | 1-308 | PDB |
| AF-Q92772-F1 | Predicted | AlphaFoldDB |
435 variants for Q92772
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA357284944 rs1338398121 |
2 | E>* | No |
ClinGen TOPMed |
|
|
rs766323528 CA2965497 |
2 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs867617398 CA99782631 |
3 | K>R | No |
ClinGen Ensembl |
|
|
CA2965496 rs760511621 |
6 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965495 rs773228735 |
6 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566875643 CA2965494 |
8 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566875643 CA357284905 |
8 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2965493 rs761394219 |
9 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA357284891 rs1286224359 |
10 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs773803257 CA2965492 |
10 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA357284876 rs1560596757 |
12 | E>D | No |
ClinGen Ensembl |
|
|
CA2965490 rs748991973 |
14 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1578357851 CA357284845 |
17 | M>T | No |
ClinGen Ensembl |
|
|
rs779650827 CA2965489 |
17 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs757638148 CA2965485 |
19 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs746170486 CA2965488 |
19 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs781728991 CA2965486 |
19 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746170486 CA2965487 |
19 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA357284786 rs1362872844 |
25 | D>G | No |
ClinGen gnomAD |
|
|
CA357284785 rs1362872844 |
25 | D>V | No |
ClinGen gnomAD |
|
|
CA99782499 rs548677333 |
26 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548677333 CA2965483 |
26 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357284781 rs1424254733 |
26 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2965479 rs753005828 |
27 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1553931750 CA2965480 |
27 | G>R | No |
ClinGen Ensembl |
|
|
CA2965478 rs765512008 |
28 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA357284757 rs1263589466 |
30 | V>A | No |
ClinGen gnomAD |
|
|
rs1045425772 CA99782487 |
31 | A>V | No |
ClinGen gnomAD |
|
|
rs750122672 CA2965476 |
33 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA2965473 rs761717408 |
37 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA99782427 rs949738521 |
38 | S>T | No |
ClinGen Ensembl |
|
|
rs774325397 CA357284694 |
39 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA99782415 rs201841057 |
39 | D>G | No |
ClinGen gnomAD |
|
|
CA357284699 rs1383100601 |
39 | D>N | No |
ClinGen TOPMed |
|
|
rs763635807 CA2965471 |
40 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs763635807 CA357284692 |
40 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1264629602 CA2965469 |
41 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 42 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA99782377 rs142690434 |
43 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA357284635 rs775146136 |
47 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965468 rs148623133 |
47 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA99782369 rs369809338 |
48 | A>T | No |
ClinGen Ensembl |
|
|
rs1325811767 CA357284630 |
48 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs746246731 CA2965465 |
49 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769378141 CA2965466 |
49 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181495836 CA2965464 |
50 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771311219 CA2965463 |
50 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2965462 rs368149421 |
52 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1259210254 CA357283550 |
58 | L>F | No |
ClinGen gnomAD |
|
|
rs1232677347 CA357283536 |
59 | R>K | No |
ClinGen TOPMed |
|
|
CA99775290 CA357283517 rs545570078 |
60 | H>Q | No |
ClinGen TOPMed |
|
|
CA357283526 rs1310996705 |
60 | H>Y | No |
ClinGen gnomAD |
|
|
CA357283501 rs1281162122 |
62 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA357283502 rs1281162122 |
62 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1441778990 CA357283491 |
62 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs773874166 CA2965442 |
64 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2965441 rs186779234 |
65 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748664134 CA2965440 |
66 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371219274 CA2965439 |
68 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768761245 CA2965438 |
69 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA357283418 rs1176444106 |
71 | K>R | No |
ClinGen gnomAD |
|
|
CA357283390 rs1267382935 |
73 | K>* | No |
ClinGen TOPMed |
|
| rs753353408 | 74 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357283366 rs1378054588 |
74 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs533914363 CA2965433 |
75 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs533914363 CA2965435 |
75 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA2965429 rs751297970 |
75 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2965428 rs777691119 |
76 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357283353 rs1439972316 |
76 | W>G | No |
ClinGen gnomAD |
|
|
CA99775182 VAR_053928 rs35921414 |
77 | Y>S | No |
ClinGen UniProt 1000Genomes dbSNP |
|
|
rs758397912 CA357283322 |
78 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA99775138 rs1047198880 |
80 | F>L | No |
ClinGen TOPMed |
|
|
rs764702142 CA2965425 |
81 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2965424 rs759051879 |
83 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1353478741 CA357283227 |
85 | H>R | No |
ClinGen gnomAD |
|
|
CA357283218 rs1282804676 |
86 | T>A | No |
ClinGen gnomAD |
|
|
rs766004182 CA2965423 |
86 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766004182 CA2965422 |
86 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357283186 rs929652133 |
89 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs929652133 CA99775104 |
89 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1164577519 CA357283143 |
92 | E>K | No |
ClinGen Ensembl |
|
|
rs760956885 CA2965421 |
92 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA357283128 rs1312093235 |
93 | L>I | No |
ClinGen gnomAD |
|
|
CA99775079 rs372688820 |
96 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
| VAR_041987 | 98 | L>I | an ovarian papillary serous adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1381166014 CA357283058 |
98 | L>R | No |
ClinGen gnomAD |
|
|
CA357283064 rs1366922950 |
98 | L>V | No |
ClinGen TOPMed |
|
|
rs1439341690 CA357283021 |
101 | Q>* | No |
ClinGen TOPMed |
|
|
rs762462078 CA2965418 |
101 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2965417 rs774971703 |
102 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1399109390 CA357283008 |
102 | V>I | No |
ClinGen gnomAD |
|
|
rs768651248 CA2965416 |
103 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768651248 CA357282999 |
103 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749341337 CA2965415 |
106 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs548637556 CA2965414 |
108 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 109 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357282881 rs1282550720 |
111 | I>S | No |
ClinGen TOPMed |
|
|
rs1162023029 CA357282856 |
113 | G>E | No |
ClinGen gnomAD |
|
|
CA357282793 rs1425046112 |
118 | H>R | No |
ClinGen gnomAD |
|
|
CA99775010 rs997721043 |
119 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA357282770 rs1261446174 |
120 | H>Y | No |
ClinGen gnomAD |
|
|
rs777602813 CA2965411 |
121 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2965409 rs752670254 |
121 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs758164748 CA2965410 |
121 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 123 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173478932 CA357282423 |
123 | I>T | No |
ClinGen gnomAD |
|
|
rs1398683166 CA357282427 |
123 | I>V | No |
ClinGen gnomAD |
|
|
rs1215770918 CA357282419 |
124 | H>D | No |
ClinGen TOPMed |
|
|
CA2965392 rs778724792 CA2965391 |
124 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA99769653 rs376453066 |
125 | R>G | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 126 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749172538 CA2965389 |
127 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2965390 rs754874648 |
127 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA99769626 rs143948380 |
128 | K>Q | No |
ClinGen ESP TOPMed |
|
|
CA2965386 rs750133894 COSM1057555 |
130 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA357282378 rs1253880338 |
130 | E>G | No |
ClinGen gnomAD |
|
|
rs17000707 CA2965385 |
132 | I>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_053929 rs17000707 CA2965384 |
132 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA357282349 rs1196283884 |
135 | S>P | No |
ClinGen gnomAD |
|
|
rs764363393 CA2965382 |
136 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965379 rs765339890 |
138 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2965380 rs775838535 |
138 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965376 rs146247136 |
139 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776857695 CA2965377 |
139 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560585574 CA357282318 |
140 | V>A | No |
ClinGen Ensembl |
|
|
rs1310870932 CA357282314 |
141 | K>* | No |
ClinGen TOPMed |
|
|
rs1353776662 CA11907393 |
142 | L>R | No |
ClinGen TOPMed |
|
|
rs747937469 CA2965375 |
143 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1392474666 CA357282301 |
143 | C>S | No |
ClinGen gnomAD |
|
|
CA99769577 rs1042451507 |
144 | D>N | No |
ClinGen Ensembl |
|
|
rs749292580 CA2965371 |
148 | A>G | No |
ClinGen ExAC gnomAD |
|
|
COSM3767984 CA2965372 rs749292580 |
148 | A>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA357282263 rs1158297639 |
149 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2965369 COSM20733 rs755711267 VAR_041988 |
149 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. large_intestine an ovarian mucinous carcinoma sample; somatic mutation [Cosmic, NCI-TCGA, UniProt] | No |
ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1240069654 CA357282233 |
154 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2965366 rs780996588 |
155 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA357282228 rs1286431182 |
155 | G>R | No |
ClinGen gnomAD |
|
|
CA357282219 rs1578337693 |
156 | E>G | No |
ClinGen Ensembl |
|
|
CA357282214 rs757037528 |
157 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965364 rs751157714 |
157 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2965365 rs757037528 |
157 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357282208 rs775741674 |
158 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 158 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA99769532 rs775741674 |
158 | Y>S | No |
ClinGen gnomAD |
|
|
rs1227116502 CA357282190 |
161 | Y>D | No |
ClinGen gnomAD |
|
|
rs764567679 CA2965363 |
163 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA357282164 rs1355490030 |
165 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1560585430 CA357282156 |
166 | W>S | No |
ClinGen Ensembl |
|
|
rs1578337626 CA357282151 |
167 | Y>D | No |
ClinGen Ensembl |
|
|
CA357282148 rs1279617518 |
167 | Y>S | No |
ClinGen gnomAD |
|
|
CA2965361 rs753276912 |
169 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2965359 rs201622412 |
172 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2965356 rs761009943 |
174 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965354 rs768530133 |
175 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs942219579 CA99769465 |
178 | K>R | No |
ClinGen TOPMed |
|
|
rs762610282 CA2965353 |
179 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs775583540 CA2965352 |
180 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA357282043 rs1182357059 |
182 | A>S | No |
ClinGen gnomAD |
|
|
CA2965335 rs762812526 |
185 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2965334 rs775493461 |
186 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470950523 CA357282012 |
187 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA357282007 rs1244668244 |
187 | A>V | No |
ClinGen gnomAD |
|
|
CA99768446 rs138746387 |
188 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2965333 rs186119175 |
189 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368747899 CA2965332 |
189 | G>D | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1364557895 CA357281991 |
190 | C>Y | No |
ClinGen gnomAD |
|
|
CA357281985 rs1279388948 |
191 | L>P | No |
ClinGen TOPMed |
|
|
CA2965331 rs776677919 |
192 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2965329 rs746454169 |
194 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA357281964 CA357281963 rs1206467376 |
195 | M>L | No |
ClinGen TOPMed |
|
|
VAR_041989 rs56343717 CA2965328 |
197 | M>T | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA99768410 rs888981151 |
198 | G>E | No |
ClinGen Ensembl |
|
|
CA2965327 rs771553867 |
199 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA2965326 rs747830165 |
200 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1560584277 CA357281918 |
202 | F>L | No |
ClinGen Ensembl |
|
|
CA357281908 rs1468547449 |
203 | P>S | No |
ClinGen TOPMed |
|
|
CA357281900 rs1212599692 |
204 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 205 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953623635 CA99768372 |
206 | S>F | No |
ClinGen TOPMed |
|
|
rs1033251904 CA99768365 |
207 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA357281877 rs1476833707 |
208 | I>V | No |
ClinGen gnomAD |
|
|
CA2965322 rs780495072 |
209 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2965321 rs376695941 |
210 | Q>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA2965319 rs767630561 |
212 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1578335828 CA357281845 |
213 | H>N | No |
ClinGen Ensembl |
|
|
rs757480539 CA2965318 |
213 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309846578 CA357281823 |
215 | M>I | No |
ClinGen gnomAD |
|
|
CA99768322 rs867409949 |
216 | M>I | No |
ClinGen Ensembl |
|
|
CA357281820 rs1219014907 |
216 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2965317 rs751810790 |
216 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 219 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA99767138 rs932340610 |
220 | N>S | No |
ClinGen TOPMed |
|
|
CA357281757 rs1377013323 |
223 | P>L | No |
ClinGen gnomAD |
|
|
CA99767131 rs904568040 |
224 | R>M | No |
ClinGen Ensembl |
|
|
rs754833298 CA2965296 |
225 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2965295 COSM448128 rs753616785 |
226 | Q>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA357281738 rs1160583633 |
226 | Q>H | No |
ClinGen gnomAD |
|
|
CA357281743 rs753616785 |
226 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA357281731 rs1350841065 |
227 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766187500 CA2965294 |
228 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs760585519 CA2965293 |
228 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1050387528 CA99767072 |
229 | F>L | No |
ClinGen Ensembl |
|
|
rs766970589 COSM3775983 CA2965291 |
231 | K>E | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1409447181 CA357281707 |
231 | K>R | No |
ClinGen TOPMed |
|
|
rs1357596016 CA357281692 |
233 | P>S | No |
ClinGen TOPMed |
|
|
CA2965290 rs188704685 |
234 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1488047009 CA357281678 |
235 | F>C | No |
ClinGen gnomAD |
|
|
CA2965289 rs774010090 |
238 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217978862 CA357281630 |
243 | I>V | No |
ClinGen gnomAD |
|
|
rs1274441969 CA357281619 |
244 | K>R | No |
ClinGen gnomAD |
|
|
rs1560583235 CA357281605 |
246 | R>K | No |
ClinGen Ensembl |
|
|
rs1226509994 CA357281590 |
248 | P>S | No |
ClinGen gnomAD |
|
|
rs1578333909 CA357281582 |
249 | L>P | No |
ClinGen Ensembl |
|
|
rs920946195 CA357281579 |
250 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs748935128 CA2965286 |
250 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs920946195 CA99767016 |
250 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2965284 rs200910442 |
252 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2965285 rs200910442 |
252 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965283 rs139728274 |
253 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2965282 rs781694917 |
256 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA2965280 rs747028686 |
258 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs146212582 CA2965279 |
259 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758757222 CA2965278 |
260 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357281519 rs758757222 |
260 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79924181 CA2965277 |
261 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA99766983 rs907544013 |
262 | D>G | No |
ClinGen TOPMed |
|
|
rs755903690 CA2965276 |
262 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965275 rs755903690 |
262 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965272 rs761321963 |
265 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA99764688 rs367981423 |
266 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs780965238 CA2965254 |
268 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs148087756 CA2965252 |
270 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756789219 CA99764685 |
270 | I>V | No |
ClinGen TOPMed |
|
|
CA99764673 rs547963762 |
271 | D>N | No |
ClinGen 1000Genomes TOPMed |
|
|
CA357281429 rs1227891519 |
272 | P>T | No |
ClinGen gnomAD |
|
|
rs79921527 CA2965249 |
273 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1459533949 CA357281405 |
275 | R>I | No |
ClinGen Ensembl |
|
|
rs764884812 CA2965247 |
276 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 279 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777120581 CA2965245 |
279 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs144803383 CA99764660 |
279 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144803383 CA2965246 |
279 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771405423 CA2965244 |
280 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357281367 rs1192405075 |
281 | L>P | No |
ClinGen TOPMed |
|
|
CA2965242 rs773821131 |
282 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036799184 CA357281358 |
283 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs941057350 CA99764621 |
283 | H>Q | No |
ClinGen gnomAD |
|
|
CA99764624 rs1036799184 |
283 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs772307019 CA2965241 |
283 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs577121830 CA2965240 |
285 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 285 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 286 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357281337 rs1252593780 |
286 | F>S | No |
ClinGen gnomAD |
|
|
CA99764613 rs909721494 |
290 | D>G | No |
ClinGen gnomAD |
|
|
CA2965239 rs779010784 |
290 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1310464971 CA357281299 |
291 | G>E | No |
ClinGen gnomAD |
|
|
rs142575330 CA2965237 |
294 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA99763422 rs867573885 |
297 | S>F | No |
ClinGen Ensembl |
|
|
CA357281225 rs1460195653 |
300 | L>P | No |
ClinGen TOPMed |
|
|
rs543188941 CA99763416 |
301 | Q>* | No |
ClinGen gnomAD |
|
|
CA99763409 rs970817681 |
302 | L>* | No |
ClinGen Ensembl |
|
|
CA357281210 rs1291485816 |
302 | L>F | No |
ClinGen TOPMed |
|
|
CA2965222 rs370419020 |
304 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352178008 CA357281201 |
304 | V>I | No |
ClinGen gnomAD |
|
|
rs1355457831 CA357281196 |
305 | Q>K | No |
ClinGen gnomAD |
|
|
CA357281192 rs1356868352 |
305 | Q>R | No |
ClinGen gnomAD |
|
|
CA2965219 rs768073831 |
307 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333005242 CA357281178 |
307 | D>N | No |
ClinGen gnomAD |
|
|
rs762226449 CA2965218 |
310 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531033737 CA2965217 |
311 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2965216 rs768596365 |
313 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770737634 CA2965213 |
321 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA357281070 rs1475433350 |
323 | E>K | No |
ClinGen gnomAD |
|
|
rs746747634 CA2965212 |
324 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs376042977 CA357281051 |
325 | E>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1190554147 CA357281055 |
325 | E>K | No |
ClinGen gnomAD |
|
|
rs376042977 CA2965211 |
325 | E>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2965209 rs200524804 COSM1540829 |
327 | D>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758426435 CA2965210 |
327 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA99763298 rs897013910 |
329 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs778530783 CA2965208 |
329 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560579515 CA357281021 |
330 | L>V | No |
ClinGen Ensembl |
|
|
rs1271851492 CA357281011 |
331 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1476209778 CA357281015 |
331 | V>I | No |
ClinGen TOPMed |
|
|
CA99763249 rs112876166 |
332 | E>G | No |
ClinGen gnomAD |
|
|
CA2965206 rs563761502 |
333 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766077540 CA2965205 |
336 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 338 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2965203 rs750887905 |
339 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1008947362 CA99763188 |
340 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs750082504 CA2965186 |
341 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750082504 CA2965185 |
341 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2965184 rs781650570 |
342 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA357280928 rs1353864300 |
343 | N>D | No |
ClinGen gnomAD |
|
|
rs757523620 CA2965183 |
343 | N>K | No |
ClinGen ExAC |
|
|
CA357280927 rs1353864300 |
343 | N>Y | No |
ClinGen gnomAD |
|
|
CA357280904 rs752130398 |
346 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752130398 CA2965182 |
346 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 347 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763022818 CA2965180 |
349 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA357280880 rs1281908929 |
350 | D>Y | No |
ClinGen TOPMed |
|
|
rs1578326290 CA357280867 |
351 | Y>* | No |
ClinGen Ensembl |
|
|
rs182108470 CA2965179 |
351 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1416800554 CA357280871 |
351 | Y>H | No |
ClinGen Ensembl |
|
|
rs191187479 CA2965177 |
358 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765286890 CA2965178 |
358 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs191187479 CA357280819 |
358 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357280794 rs1247677156 |
362 | D>G | No |
ClinGen TOPMed |
|
|
rs771928597 CA2965176 |
362 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965175 rs771928597 |
362 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761463985 CA2965174 |
363 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774356262 CA2965173 |
364 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768545209 CA2965172 |
367 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560578907 CA357280753 |
368 | K>R | No |
ClinGen Ensembl |
|
|
rs1434172092 CA357280746 |
369 | G>V | No |
ClinGen TOPMed |
|
|
rs779763516 CA2965170 |
372 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA99762621 rs910259288 |
373 | S>* | No |
ClinGen Ensembl |
|
|
CA99762618 rs966383702 |
375 | A>G | No |
ClinGen Ensembl |
|
|
rs745547858 CA2965168 |
378 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA357280678 rs1372467452 |
379 | H>Q | No |
ClinGen gnomAD |
|
|
CA2965167 rs780661646 |
380 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2965165 rs751806312 |
381 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2965166 rs139436975 |
381 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357280660 rs1312111973 |
382 | R>K | No |
ClinGen gnomAD |
|
|
CA2965163 rs80144599 |
383 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965161 rs765336114 |
384 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965162 rs765336114 |
384 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 385 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563758976 CA2965158 |
386 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766451774 CA2965157 |
387 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2965156 rs760949573 |
388 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428717046 CA357280622 |
388 | I>V | No |
ClinGen gnomAD |
|
|
rs774075055 CA357280614 |
389 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774075055 CA2965155 |
389 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA99762574 rs1004777015 |
389 | V>L | No |
ClinGen gnomAD |
|
|
CA357280617 rs1004777015 |
389 | V>M | No |
ClinGen gnomAD |
|
|
CA2965152 rs775532568 |
392 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965150 rs745312620 |
393 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs776352818 CA2965149 |
395 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs867119872 CA99762512 |
396 | D>N | No |
ClinGen Ensembl |
|
|
CA2965148 rs770554188 |
396 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357280559 rs1356918009 |
398 | S>N | No |
ClinGen gnomAD |
|
|
rs952036393 CA99762509 |
398 | S>R | No |
ClinGen Ensembl |
|
|
rs1463352139 CA357280538 |
401 | S>N | No |
ClinGen TOPMed |
|
|
CA2965146 rs142919399 |
402 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2965145 rs758728009 |
403 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA357280527 rs1342916491 |
403 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1342916491 CA357280526 |
403 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA357280519 rs1432677487 |
404 | H>N | No |
ClinGen TOPMed |
|
|
rs748685444 CA2965144 |
405 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748685444 CA357280510 |
405 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560578642 CA357280508 |
406 | R>G | No |
ClinGen Ensembl |
|
|
rs374104401 CA2965142 |
409 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150511430 CA357280479 |
410 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150511430 CA2965140 |
410 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1260102318 CA357280475 |
411 | A>T | No |
ClinGen gnomAD |
|
|
VAR_041990 CA2965139 rs56231363 |
411 | A>V | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2965136 rs750627985 |
413 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764012814 CA2965135 |
415 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762790871 CA357280443 |
416 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762790871 CA2965134 |
416 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs373031282 CA99762425 |
418 | N>K | No |
ClinGen Ensembl |
|
|
rs775585566 CA2965133 |
418 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA357280426 rs1385759335 |
419 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1336651318 CA357280425 |
419 | L>H | No |
ClinGen gnomAD |
|
|
CA2965131 rs759516059 |
422 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2965130 rs375476971 |
423 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA99762408 rs1036687208 |
423 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA357280399 rs1430852958 |
424 | P>S | No |
ClinGen gnomAD |
|
|
CA99762379 rs772807328 |
431 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965127 rs772807328 |
431 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965126 rs372242420 |
432 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319827232 CA357280336 |
433 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1274077218 CA357280338 |
433 | E>G | No |
ClinGen TOPMed |
|
|
rs748452622 CA2965125 |
434 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA99762371 rs369720877 |
434 | T>I | No |
ClinGen ESP |
|
|
rs201875505 CA2965122 |
435 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780038525 CA2965121 |
435 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs201875505 CA2965123 |
435 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs555802995 CA99762336 |
436 | P>S | No |
ClinGen Ensembl |
|
|
rs756179381 CA2965120 |
437 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750637035 CA99762305 |
438 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750637035 CA2965119 |
438 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 441 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2965117 rs758275628 |
441 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2965089 rs766993687 |
441 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA357280275 rs1375090397 |
442 | V>A | No |
ClinGen gnomAD |
|
|
CA2965087 rs773953532 |
443 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2965088 rs761494010 |
443 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs768925188 CA2965086 |
444 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357280256 rs1180975501 |
445 | K>T | No |
ClinGen gnomAD |
|
|
rs146221596 CA2965085 |
446 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146221596 CA2965084 |
446 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs979993571 CA99761864 |
447 | K>N | No |
ClinGen Ensembl |
|
|
CA2965082 rs746366585 |
449 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA357280222 rs1277771743 |
450 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA357280221 rs1277771743 |
450 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA357280216 rs1159221213 |
451 | I>T | No |
ClinGen Ensembl |
|
|
rs201572052 CA2965081 |
452 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA99761834 rs201572052 |
452 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138713156 CA2965079 |
454 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA357280200 rs1259680418 |
454 | V>I | No |
ClinGen gnomAD |
|
|
rs760712513 CA2965078 |
456 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760712513 CA357280185 |
456 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965077 rs754742847 |
457 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA357280176 rs1463480394 |
458 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs992928710 CA99761791 |
464 | I>N | No |
ClinGen Ensembl |
|
|
rs1355016235 CA357280136 |
464 | I>V | No |
ClinGen gnomAD |
|
|
rs1311258432 CA357280100 |
469 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2965076 rs753601015 |
470 | T>I | No |
ClinGen ExAC |
|
|
CA357280088 rs1449391319 |
471 | T>A | No |
ClinGen TOPMed |
|
|
rs779707576 CA2965075 |
471 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2965039 rs575536568 |
475 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745595790 CA357279515 |
475 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs745595790 CA2965038 |
475 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 477 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA99780335 rs1007638893 COSM1471692 |
477 | P>S | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA99780327 rs567033023 |
478 | L>M | No |
ClinGen gnomAD |
|
|
rs781279029 CA99780322 |
480 | D>G | No |
ClinGen Ensembl |
|
|
rs1182477130 CA357279476 |
482 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs751532163 CA99780319 |
484 | A>D | No |
ClinGen Ensembl |
|
|
CA357279465 rs1210498783 |
484 | A>T | No |
ClinGen gnomAD |
|
|
rs1465341326 CA357279449 |
486 | L>W | No |
ClinGen gnomAD |
|
|
rs557187732 CA2965033 |
488 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1323107677 CA357279424 |
490 | E>K | No |
ClinGen gnomAD |
|
|
CA2965032 rs757803753 |
491 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369154103 CA2965031 |
492 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2965030 rs149539092 |
493 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q92772
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.22 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cyclin-dependent protein serine/threonine kinase activity | Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| sex differentiation | The establishment of the sex of an organism by physical differentiation. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q00532 | CDKL1 | Cyclin-dependent kinase-like 1 | Homo sapiens (Human) | PR |
| Q15131 | CDK10 | Cyclin-dependent kinase 10 | Homo sapiens (Human) | PR |
| Q9UQ88 | CDK11A | Cyclin-dependent kinase 11A | Homo sapiens (Human) | PR |
| Q00526 | CDK3 | Cyclin-dependent kinase 3 | Homo sapiens (Human) | PR |
| Q96Q40 | CDK15 | Cyclin-dependent kinase 15 | Homo sapiens (Human) | PR |
| O94921 | CDK14 | Cyclin-dependent kinase 14 | Homo sapiens (Human) | PR |
| Q00537 | CDK17 | Cyclin-dependent kinase 17 | Homo sapiens (Human) | PR |
| P49336 | CDK8 | Cyclin-dependent kinase 8 | Homo sapiens (Human) | PR |
| Q9BWU1 | CDK19 | Cyclin-dependent kinase 19 | Homo sapiens (Human) | PR |
| P50750 | CDK9 | Cyclin-dependent kinase 9 | Homo sapiens (Human) | PR |
| Q5MAI5 | CDKL4 | Cyclin-dependent kinase-like 4 | Homo sapiens (Human) | PR |
| Q8IZL9 | CDK20 | Cyclin-dependent kinase 20 | Homo sapiens (Human) | PR |
| P21127 | CDK11B | Cyclin-dependent kinase 11B | Homo sapiens (Human) | PR |
| Q3TZA2 | Cdkl4 | Cyclin-dependent kinase-like 4 | Mus musculus (Mouse) | PR |
| Q8BLF2 | Cdkl3 | Cyclin-dependent kinase-like 3 | Mus musculus (Mouse) | PR |
| Q8CEQ0 | Cdkl1 | Cyclin-dependent kinase-like 1 | Mus musculus (Mouse) | PR |
| Q9QUK0 | Cdkl2 | Cyclin-dependent kinase-like 2 | Mus musculus (Mouse) | PR |
| Q9JM01 | Cdkl3 | Cyclin-dependent kinase-like 3 | Rattus norvegicus (Rat) | PR |
| Q5XIT0 | Cdkl2 | Cyclin-dependent kinase-like 2 | Rattus norvegicus (Rat) | PR |
| Q66HE7 | Cdkl1 | Cyclin-dependent kinase-like 1 | Rattus norvegicus (Rat) | PR |
| Q6AXJ9 | cdkl1 | Cyclin-dependent kinase-like 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEKYENLGLV | GEGSYGMVMK | CRNKDTGRIV | AIKKFLESDD | DKMVKKIAMR | EIKLLKQLRH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ENLVNLLEVC | KKKKRWYLVF | EFVDHTILDD | LELFPNGLDY | QVVQKYLFQI | INGIGFCHSH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NIIHRDIKPE | NILVSQSGVV | KLCDFGFART | LAAPGEVYTD | YVATRWYRAP | ELLVGDVKYG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KAVDVWAIGC | LVTEMFMGEP | LFPGDSDIDQ | LYHIMMCLGN | LIPRHQELFN | KNPVFAGVRL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PEIKEREPLE | RRYPKLSEVV | IDLAKKCLHI | DPDKRPFCAE | LLHHDFFQMD | GFAERFSQEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QLKVQKDARN | VSLSKKSQNR | KKEKEKDDSL | VEERKTLVVQ | DTNADPKIKD | YKLFKIKGSK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IDGEKAEKGN | RASNASCLHD | SRTSHNKIVP | STSLKDCSNV | SVDHTRNPSV | AIPPLTHNLS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AVAPSINSGM | GTETIPIQGY | RVDEKTKKCS | IPFVKPNRHS | PSGIYNINVT | TLVSGPPLSD |
| 490 | |||||
| DSGADLPQME | HQH |