Q6P3R8
PR
Gene name |
NEK5 |
Protein name |
Serine/threonine-protein kinase Nek5 |
Names |
Never in mitosis A-related kinase 5, NimA-related protein kinase 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:341676 |
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
146-169 (Activation loop from InterPro)
Target domain |
4-259 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q6P3R8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6P3R8-F1 | Predicted | AlphaFoldDB |
593 variants for Q6P3R8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs267603845 CA6990583 RCV002960871 |
652 | G>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6991187 rs769525724 COSM432508 |
3 | K>N | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs369112089 CA6991188 |
3 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770559363 CA6991184 |
5 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375278667 CA6991186 |
5 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6991185 rs770559363 |
5 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6991183 rs746450279 |
6 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1480295742 CA388028833 |
7 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1028778277 CA250100273 |
8 | K>N | No |
ClinGen Ensembl |
|
|
CA6991182 rs777864058 |
10 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA388028694 rs777864058 |
10 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1200533127 CA388028705 |
10 | I>V | No |
ClinGen gnomAD |
|
|
rs771852034 CA6991181 |
11 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771852034 CA388028685 |
11 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778553237 CA6991178 |
12 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1222882839 CA388028657 |
12 | Q>P | No |
ClinGen gnomAD |
|
|
CA250100256 COSM432506 rs371227620 |
13 | G>V | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA388028605 rs1285036579 |
14 | A>P | No |
ClinGen gnomAD |
|
|
CA388028586 rs1566839157 |
14 | A>V | No |
ClinGen Ensembl |
|
|
CA388028558 rs754004977 |
15 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6991175 CA6991174 rs756200901 |
16 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750456037 CA6991173 |
17 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs752003878 CA6991170 |
20 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250100230 rs965917878 |
23 | G>R | No |
ClinGen gnomAD |
|
|
CA388028303 rs1594013436 |
25 | S>L | No |
ClinGen Ensembl |
|
|
rs1250912529 CA388028318 |
25 | S>T | No |
ClinGen TOPMed |
|
|
CA388028277 rs1362821711 |
26 | D>E | No |
ClinGen gnomAD |
|
|
CA6991167 rs776425010 |
26 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6991166 rs147877614 |
27 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277737256 CA388028222 |
29 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1240794082 CA388028205 |
30 | C>R | No |
ClinGen gnomAD |
|
|
rs760280527 CA6991165 |
31 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6991163 rs772099960 |
32 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6991164 rs199552760 |
32 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs536334299 CA6991162 |
34 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778837550 CA6991161 |
36 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6991160 rs567142857 |
37 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6991159 rs547140893 |
38 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780278736 CA6991158 |
39 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA6991142 rs768591441 |
40 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388025349 rs1399115115 |
42 | I>V | No |
ClinGen gnomAD |
|
|
rs144473736 CA6991141 |
44 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775235888 CA6991140 |
45 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1020213901 CA250097216 |
46 | E>A | No |
ClinGen gnomAD |
|
|
CA388025066 rs1421922452 |
47 | A>G | No |
ClinGen gnomAD |
|
|
rs770051156 CA6991139 |
49 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388024938 rs1566828027 |
50 | K>R | No |
ClinGen Ensembl |
|
|
CA6991136 rs746076765 |
53 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs531979032 CA6991137 |
53 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 55 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752118813 CA6991135 |
58 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250097189 rs1027274685 |
59 | K>E | No |
ClinGen Ensembl |
|
|
rs372630820 CA6991133 |
60 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6991132 rs747050206 |
62 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242636317 CA388024440 |
63 | I>T | No |
ClinGen gnomAD |
|
|
rs1433623425 CA388024447 COSM432504 |
63 | I>V | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs201174828 CA6991131 |
64 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388024416 rs1195504027 |
64 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs758929883 CA6991130 |
66 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs758929883 CA388024336 |
66 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6991129 rs753148959 |
68 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6991128 rs765686697 |
69 | S>A | No |
ClinGen ExAC |
|
|
rs1212888348 CA388024115 |
72 | E>K | No |
ClinGen gnomAD |
|
|
CA6991113 rs759020001 |
75 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388021844 rs1202471364 |
75 | R>T | No |
ClinGen gnomAD |
|
|
CA388021795 rs1221052367 |
77 | F>L | No |
ClinGen gnomAD |
|
|
rs748664031 CA6991112 |
78 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1283116764 CA388021787 |
78 | I>T | No |
ClinGen gnomAD |
|
|
CA250089259 rs748664031 |
78 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs76485308 CA6991111 |
79 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs76485308 CA250089240 |
79 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1035096069 CA388021579 |
86 | G>A | No |
ClinGen gnomAD |
|
|
rs1035096069 CA250089229 |
86 | G>E | No |
ClinGen gnomAD |
|
|
CA250089221 rs539607295 |
89 | M>T | No |
ClinGen gnomAD |
|
|
CA6991110 rs755410989 |
91 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6991109 rs754186308 |
92 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1349620117 CA388021444 |
93 | N>D | No |
ClinGen Ensembl |
|
|
rs986616378 CA250089200 |
93 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM948046 rs377168646 CA6991107 |
96 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs147607303 CA6991108 COSM1217075 |
96 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6991105 rs763582658 |
97 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6991106 rs751081915 |
97 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142603957 CA6991104 |
98 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1164903856 CA388021357 |
99 | L>I | No |
ClinGen TOPMed |
|
|
rs899162777 CA250089172 |
100 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1201071401 CA388021338 |
100 | F>V | No |
ClinGen gnomAD |
|
|
CA6991103 rs775408363 |
101 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs775408363 CA388021318 |
101 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6991102 rs759347642 |
101 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6991101 rs759347642 |
101 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 102 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593994238 CA388021311 |
102 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 104 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563828541 CA6991083 |
107 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA388021019 rs1288353433 |
109 | F>L | No |
ClinGen TOPMed |
|
|
rs765186833 CA6991082 |
109 | F>L | No |
ClinGen ExAC |
|
|
rs1593992438 CA388021009 |
110 | V>I | No |
ClinGen Ensembl |
|
|
CA6991081 rs759481638 COSM1367461 |
111 | Q>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs773833975 CA250088216 |
112 | I>S | No |
ClinGen gnomAD |
|
|
rs753622360 CA6991080 |
114 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1438970796 CA388020934 |
114 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388020927 rs1209495703 |
115 | G>R | No |
ClinGen TOPMed |
|
|
rs1426003317 CA388020886 |
118 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1260274904 CA388020846 |
120 | H>N | No |
ClinGen gnomAD |
|
|
rs766179345 CA6991079 |
121 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 123 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6991078 rs760323879 |
124 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1264837107 CA388020719 |
126 | H>P | No |
ClinGen gnomAD |
|
|
CA388020686 rs1265588807 |
129 | I>R | No |
ClinGen gnomAD |
|
|
rs773499254 CA6991077 |
129 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6991076 rs772374737 |
131 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372582723 CA6991075 |
132 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA388020668 rs1294801085 |
132 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760545697 CA6991059 |
133 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6991058 rs561409445 |
134 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6991057 rs148464078 |
136 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388020623 rs1279466642 |
137 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 137 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6991056 rs762104562 |
138 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA250088072 COSM1217079 rs957673200 |
140 | G>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6991054 rs764231988 |
141 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs762872565 CA6991053 |
145 | L>R | No |
ClinGen ExAC |
|
|
CA6991051 rs770149860 |
148 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA388020534 rs1200897240 |
150 | I>T | No |
ClinGen TOPMed |
|
|
CA388020537 rs1458546587 |
150 | I>V | No |
ClinGen TOPMed |
|
|
rs116176262 CA6991050 |
151 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388020527 rs1476818980 |
151 | A>V | No |
ClinGen TOPMed |
|
|
rs975488241 CA250088055 |
152 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 153 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186807270 CA388020066 |
156 | N>K | No |
ClinGen gnomAD |
|
|
CA388020061 rs1442770850 |
157 | S>P | No |
ClinGen gnomAD |
|
|
CA250086894 rs987806023 |
158 | M>V | No |
ClinGen gnomAD |
|
|
rs138854686 CA6991032 |
160 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA250086890 rs949142275 |
162 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1285608963 CA388019999 COSM948040 |
162 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA388019984 rs1240915989 |
163 | T>I | No |
ClinGen gnomAD |
|
|
CA250086880 rs768839924 |
165 | I>V | No |
ClinGen Ensembl |
|
|
CA6991031 rs760010059 |
166 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1448017540 CA388019929 |
168 | P>L | No |
ClinGen gnomAD |
|
|
rs747319587 CA6991027 |
169 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6991028 rs139436428 |
169 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768156939 CA6991025 |
170 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs774076871 CA6991026 |
170 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA388019802 rs1382911525 |
180 | P>S | No |
ClinGen gnomAD |
|
|
rs1566811891 CA388019768 |
182 | N>I | No |
ClinGen Ensembl |
|
| TCGA novel | 183 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6991021 rs779409958 |
183 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388019759 rs779409958 |
183 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6991020 rs756136255 |
184 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs745797475 CA6991019 |
185 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1461797203 CA388019723 |
185 | T>M | No |
ClinGen TOPMed |
|
|
CA250084074 rs61744471 |
190 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 190 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564218747 CA6990998 |
193 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388018557 rs770949953 |
194 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217396186 CA388018516 |
196 | E>G | No |
ClinGen gnomAD |
|
|
CA250084006 rs932524428 |
199 | T>A | No |
ClinGen Ensembl |
|
|
CA388018407 rs1279161159 |
202 | H>R | No |
ClinGen gnomAD |
|
|
rs1416971416 CA388018411 |
202 | H>Y | No |
ClinGen TOPMed |
|
|
CA388018396 rs1475402046 |
203 | P>A | No |
ClinGen TOPMed |
|
|
CA6990983 rs55693002 |
205 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6990981 rs769520527 |
206 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs200329267 CA6990982 |
206 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs547518388 CA6990979 |
208 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6990978 rs771041619 |
210 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs746903689 CA6990977 |
211 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA250082441 rs111838891 |
211 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388017507 rs1445430244 |
213 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1162961515 CA388017458 |
215 | K>N | No |
ClinGen TOPMed |
|
|
CA6990974 rs747916215 |
217 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA388017401 rs1464336533 COSM1367457 |
218 | Q>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA388017390 rs779139655 |
219 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs779139655 CA6990973 |
219 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA250082405 rs760533265 |
220 | H>P | No |
ClinGen gnomAD |
|
|
CA388017317 rs1393811717 |
222 | A>G | No |
ClinGen TOPMed |
|
|
rs1024809944 CA250082379 |
224 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs564958221 CA6990972 |
224 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6990971 rs753970958 |
225 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA388017257 rs1295878624 |
225 | S>F | No |
ClinGen gnomAD |
|
|
CA6990970 rs142220100 |
226 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388017248 rs142220100 |
226 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 227 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750899823 CA6990968 |
230 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6990967 rs201210682 |
230 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6990966 rs202234365 |
231 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388017099 rs765020739 |
232 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990964 rs765020739 |
232 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388017077 rs1313528223 |
233 | H>D | No |
ClinGen gnomAD |
|
|
CA6990963 rs56369842 |
233 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388016940 rs1566802011 |
237 | S>F | No |
ClinGen Ensembl |
|
|
rs569510192 CA6990962 |
237 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA388016913 rs765978449 |
238 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6990961 COSM3711097 rs765978449 |
238 | Q>E | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 239 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269399053 CA388016868 |
239 | L>V | No |
ClinGen TOPMed |
|
|
rs760161549 CA6990959 |
243 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760161549 CA388016717 |
243 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990958 rs145182172 |
244 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990957 rs771993979 |
245 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs113132793 CA6990956 |
245 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426046232 CA388016641 |
246 | D>E | No |
ClinGen gnomAD |
|
|
rs1478957137 CA388016643 |
246 | D>V | No |
ClinGen TOPMed |
|
|
rs774114330 CA6990955 |
247 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768928309 CA6990954 |
247 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388016568 rs1165026681 |
249 | S>F | No |
ClinGen TOPMed |
|
|
rs1018759769 CA250082252 |
250 | I>K | No |
ClinGen Ensembl |
|
|
rs749507754 CA6990953 |
250 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs530111977 CA6990952 |
252 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745913526 CA6990950 |
255 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990951 VAR_051652 rs34756139 |
255 | K>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 256 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484464956 CA388016411 |
256 | R>S | No |
ClinGen gnomAD |
|
|
CA388016398 rs1260561959 |
257 | P>S | No |
ClinGen gnomAD |
|
|
CA6990948 rs541144837 |
259 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 260 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757749381 CA6990947 |
261 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 262 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342761523 CA388016237 |
264 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 264 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990946 rs764540286 |
265 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6990945 rs764540286 |
265 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1320992925 CA388016153 |
267 | L>S | No |
ClinGen gnomAD |
|
|
rs1313392549 CA388016107 |
269 | P>R | No |
ClinGen gnomAD |
|
|
rs891268805 CA250082145 |
270 | E>K | No |
ClinGen Ensembl |
|
|
rs1402757766 CA388016004 |
271 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA250082028 rs201185595 |
273 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201185595 CA6990926 |
273 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 274 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478369404 CA610426067 |
274 | E>VL* | No |
ClinGen gnomAD |
|
|
CA388015905 rs1374407364 |
275 | E>A | No |
ClinGen gnomAD |
|
|
CA388015868 rs1433266962 |
276 | F>C | No |
ClinGen TOPMed |
|
|
rs1267523333 CA388015779 |
279 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs374646356 CA388015783 |
279 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267523333 CA388015777 |
279 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs374646356 CA6990923 |
279 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs949884258 CA250082015 |
281 | I>T | No |
ClinGen Ensembl |
|
|
rs1183654928 CA388015706 |
282 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1309925437 CA388015698 |
282 | C>Y | No |
ClinGen TOPMed |
|
|
CA6990922 rs749963361 |
283 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA388015671 rs749963361 |
283 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA388015610 rs1355705834 |
285 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs767049962 CA6990921 |
286 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6990917 rs763973334 |
288 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA388015526 rs1248575801 |
289 | S>F | No |
ClinGen TOPMed |
|
|
rs762770734 CA6990916 |
290 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| VAR_040922 | 290 | R>H | No | UniProt | |
|
rs556430126 CA6990913 |
290 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556430126 CA6990914 |
290 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM432500 CA6990915 rs556430126 |
290 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1301993881 CA388015496 |
291 | H>R | No |
ClinGen gnomAD |
|
|
rs1332541391 CA388014407 |
299 | C>Y | No |
ClinGen gnomAD |
|
|
CA6990894 rs759182962 |
300 | K>E | No |
ClinGen ExAC TOPMed |
|
|
CA6990890 rs760867333 |
304 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388014234 rs1043710691 |
306 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs202117610 CA6990889 |
309 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990888 rs371131266 |
309 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748662083 CA6990887 |
311 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6990885 rs769082304 |
313 | R>* | No |
ClinGen ExAC TOPMed |
|
|
CA388014026 rs1258458215 |
315 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6990884 rs749570169 |
316 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388013928 rs1487348670 |
319 | P>S | No |
ClinGen gnomAD |
|
|
CA6990883 rs780932217 |
321 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA388013845 rs985795580 |
322 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA250080283 rs985795580 |
322 | R>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 322 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388013787 rs1224420110 |
324 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388013785 rs1380426828 |
325 | I>V | No |
ClinGen Ensembl |
|
|
rs777248159 CA6990880 |
328 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1314324734 CA388013689 |
329 | N>S | No |
ClinGen gnomAD |
|
|
rs752680175 CA6990878 |
330 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6990877 rs765026007 |
331 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78636974 CA250080260 |
334 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78636974 CA6990876 |
334 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388013497 rs1442059440 |
337 | A>T | No |
ClinGen gnomAD |
|
|
CA6990875 rs372385980 |
340 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA250080254 rs971756628 |
342 | S>C | No |
ClinGen gnomAD |
|
|
rs971756628 CA388013382 |
342 | S>Y | No |
ClinGen gnomAD |
|
|
rs777337634 CA6990860 |
343 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 345 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422827877 CA388012300 |
346 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 348 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs923229821 CA250075151 |
348 | R>K | No |
ClinGen Ensembl |
|
|
rs961375155 CA250075149 |
350 | K>Q | No |
ClinGen Ensembl |
|
|
CA388012188 rs1324381412 |
353 | A>G | No |
ClinGen TOPMed |
|
|
CA388012193 rs1404988505 |
353 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 353 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990856 rs778939881 |
354 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216032292 CA388012144 |
357 | H>L | No |
ClinGen gnomAD |
|
|
rs1216032292 CA388012146 |
357 | H>R | No |
ClinGen gnomAD |
|
|
CA388012128 rs1273676155 |
358 | Y>C | No |
ClinGen gnomAD |
|
|
CA388012138 rs1365061449 |
358 | Y>N | No |
ClinGen gnomAD |
|
|
CA250075124 rs77133890 |
359 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6990854 rs557041954 |
360 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766274708 CA6990853 |
361 | Y>D | No |
ClinGen ExAC |
|
|
CA388012061 rs755907903 |
363 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990851 rs755907903 |
363 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750687870 CA388012050 |
365 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990850 rs750687870 |
365 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990848 rs538871396 |
366 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM432498 CA6990849 rs767803517 |
366 | D>Y | Variant assessed as Somatic; 4.619e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA388012039 rs1402347667 |
367 | M>V | No |
ClinGen TOPMed |
|
|
CA6990847 rs774267178 |
368 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388012021 COSM211981 rs1172030985 |
369 | R>S | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1454792695 CA388012005 |
372 | A>T | No |
ClinGen gnomAD |
|
|
CA388012001 rs1323072217 |
372 | A>V | No |
ClinGen TOPMed |
|
|
rs569871222 CA6990845 |
373 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770144927 CA6990844 |
375 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs200452383 CA250075067 |
375 | P>L | No |
ClinGen gnomAD |
|
|
rs770144927 CA6990843 |
375 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759832094 CA6990842 |
377 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990840 rs200511571 |
378 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6990839 rs747732221 |
380 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778262692 COSM386590 CA6990838 |
383 | E>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 386 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990836 rs749188790 |
387 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164118261 CA388011898 |
388 | E>G | No |
ClinGen TOPMed |
|
|
CA6990835 rs780082875 |
389 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990833 rs142357047 |
391 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1361205847 CA388011872 |
392 | Q>* | No |
ClinGen TOPMed |
|
|
rs1312550476 CA388011866 |
393 | E>K | No |
ClinGen gnomAD |
|
|
CA6990832 COSM948032 rs145214408 |
394 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1439562173 CA388011850 |
395 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1439562173 CA388011851 |
395 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388011833 rs1409384764 |
397 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990829 rs764074677 |
400 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 403 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990827 CA6990828 rs568400564 |
403 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs757563268 CA6990813 |
405 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6990814 rs781125169 |
405 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs777989531 COSM3793340 CA6990811 |
406 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6990810 rs758425944 |
406 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs752733605 CA6990809 |
409 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA388011735 rs1387601197 |
410 | R>K | No |
ClinGen TOPMed |
|
|
CA388011726 rs1262407797 |
411 | K>R | No |
ClinGen gnomAD |
|
|
CA250072215 rs890999498 |
412 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs890999498 CA250072218 |
412 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1321052201 CA388011703 |
414 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6990808 rs751654295 |
415 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754257592 CA6990806 |
416 | Q>P | No |
ClinGen ExAC |
|
|
rs1357565729 CA388011682 |
417 | Y>* | No |
ClinGen gnomAD |
|
|
rs562362241 COSM3704682 CA6990802 |
417 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed |
|
rs773897462 CA6990800 |
419 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs572401308 CA250072171 |
424 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6990798 rs572401308 |
424 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA6990796 rs368900012 |
425 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770857581 CA6990776 |
426 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990777 rs776451321 |
426 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990775 rs773041763 COSM948030 |
428 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs140291042 CA6990774 |
428 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1029726697 CA250070802 |
433 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1249480007 CA388011572 |
434 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1196176840 CA388011554 |
436 | Y>C | No |
ClinGen gnomAD |
|
|
CA388011549 rs1340267937 |
437 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1015754007 CA250070781 |
438 | Q>H | No |
ClinGen gnomAD |
|
|
CA6990771 rs151195749 |
438 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388011533 rs1304803073 |
439 | R>K | No |
ClinGen gnomAD |
|
|
CA6990770 rs755074537 |
441 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs780465917 CA6990768 |
443 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1392369542 CA388011500 |
444 | S>N | No |
ClinGen gnomAD |
|
|
CA388011483 rs1566777158 |
446 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA388011452 rs1433548693 |
451 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 451 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990765 rs767923032 |
451 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA250070731 rs373786665 |
452 | Q>P | No |
ClinGen ESP TOPMed |
|
|
rs1174984487 CA388011424 |
455 | P>T | No |
ClinGen gnomAD |
|
|
rs867843808 CA250070729 |
458 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752409091 CA388011121 |
459 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM276306 CA250070710 rs267603847 |
460 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine skin urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1414982840 CA388011105 |
460 | E>V | No |
ClinGen TOPMed |
|
|
CA6990762 rs764932594 |
462 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs753354573 CA6990760 |
463 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs267603846 CA250070694 |
463 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267603846 CA6990761 |
463 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370986998 CA6990759 |
464 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751928726 CA6990746 |
467 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA6990744 rs754653660 |
469 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6990745 rs374451098 |
469 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388010744 rs1206308830 |
472 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753345998 CA6990743 |
473 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs35465612 CA6990741 |
474 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1677678 CA6990740 rs113982174 |
474 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA250070111 rs113982174 |
474 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35465612 CA6990742 |
474 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388010714 rs1355657219 |
475 | Q>* | No |
ClinGen gnomAD |
|
|
rs767404517 CA6990739 |
475 | Q>P | No |
ClinGen ExAC |
|
|
rs1397568740 CA609953692 |
476 | Q>* | No |
ClinGen gnomAD |
|
|
CA388010705 rs1294795708 |
476 | Q>* | No |
ClinGen gnomAD |
|
|
CA6990737 rs761636819 |
478 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1269236653 CA388010663 |
479 | N>S | No |
ClinGen TOPMed |
|
|
rs1593957662 CA388010664 |
479 | N>Y | No |
ClinGen Ensembl |
|
|
CA388010651 rs1318411336 |
480 | D>N | No |
ClinGen gnomAD |
|
|
rs144760430 CA6990736 |
481 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 483 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388010597 rs1219959686 |
484 | I>M | No |
ClinGen TOPMed |
|
|
CA6990734 rs768928216 |
487 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs763235980 CA6990733 |
488 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs998932853 CA250070083 |
488 | M>K | No |
ClinGen Ensembl |
|
|
rs542686027 CA6990732 |
489 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA250070070 rs1021703684 |
490 | R>G | No |
ClinGen Ensembl |
|
|
rs769933532 CA6990731 |
490 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745884177 CA6990730 |
491 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388010528 rs745884177 |
491 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250070047 rs377539630 |
492 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs377539630 CA388010514 |
492 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6990729 rs781771841 |
493 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 494 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763883262 CA6990717 |
495 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388010174 rs1372051696 |
496 | S>A | No |
ClinGen gnomAD |
|
|
rs1219705643 CA388010141 |
498 | I>R | No |
ClinGen TOPMed |
|
|
CA6990716 rs762602008 |
499 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1187628465 CA388010122 |
500 | H>Y | No |
ClinGen gnomAD |
|
|
rs765332618 CA6990715 |
501 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs1189669701 | 502 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388010093 rs1593953217 |
502 | T>P | No |
ClinGen Ensembl |
|
|
rs1051422917 CA388010075 |
503 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1051422917 CA250068214 |
503 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776827365 CA6990712 |
505 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388010021 COSM459268 rs1345193216 |
507 | K>N | cervix [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1458008687 CA388010012 |
508 | S>N | No |
ClinGen gnomAD |
|
|
CA388009997 rs1234848326 |
509 | N>T | No |
ClinGen gnomAD |
|
|
rs943928421 CA250068200 |
511 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 511 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193602388 CA388009981 |
511 | P>T | No |
ClinGen TOPMed |
|
|
rs890502585 CA250068196 |
513 | H>R | No |
ClinGen Ensembl |
|
|
rs747513114 CA6990708 |
515 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773788452 CA6990707 |
515 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388009922 rs1329857999 |
516 | A>T | No |
ClinGen gnomAD |
|
|
rs1411723836 CA388009914 |
516 | A>V | No |
ClinGen gnomAD |
|
|
CA250068178 rs866677635 |
518 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1163093495 CA388009894 |
518 | E>V | No |
ClinGen TOPMed |
|
|
rs200160344 CA6990704 |
520 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755702513 CA6990703 |
522 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA250068169 rs544613868 |
524 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388009758 rs1326159520 |
525 | M>K | No |
ClinGen TOPMed |
|
|
rs1293873292 CA388009760 |
525 | M>V | No |
ClinGen TOPMed |
|
|
CA388009749 rs1227246449 |
526 | E>G | No |
ClinGen TOPMed |
|
|
rs955418451 CA250067503 |
528 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA388009732 rs1179335645 |
528 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1179335645 CA388009731 |
528 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1026090275 CA250067501 |
529 | S>F | No |
ClinGen TOPMed gnomAD |
|
| VAR_040923 | 531 | C>R | No | UniProt | |
|
CA388009697 rs1259414581 |
532 | P>A | No |
ClinGen TOPMed |
|
|
CA250067464 rs971068079 |
532 | P>L | No |
ClinGen TOPMed |
|
|
rs773876520 CA6990687 |
536 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250067456 rs1024188034 |
537 | M>I | No |
ClinGen TOPMed |
|
|
CA388009637 rs1486396901 |
537 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1012848467 CA250067443 |
539 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1317458339 CA388009599 |
539 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1593951817 CA388009586 |
540 | S>Y | No |
ClinGen Ensembl |
|
|
CA388009564 rs1286022718 |
541 | W>C | No |
ClinGen gnomAD |
|
|
rs187850855 CA6990685 |
544 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388009524 rs1593951772 |
545 | T>P | No |
ClinGen Ensembl |
|
|
CA6990684 rs182816317 |
547 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1381519663 CA388009436 |
548 | S>F | No |
ClinGen gnomAD |
|
|
CA6990683 rs769558260 |
549 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs745527920 CA6990682 |
549 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs55776590 CA6990676 |
550 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs895258726 CA250096054 |
552 | E>D | No |
ClinGen TOPMed |
|
|
CA6990675 rs139136964 |
552 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388048881 rs1165451263 |
554 | D>G | No |
ClinGen TOPMed |
|
|
CA6990674 rs778567246 |
554 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754126161 CA6990672 |
555 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs766658158 CA6990671 |
558 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1456708683 CA388048767 |
560 | L>F | No |
ClinGen TOPMed |
|
|
rs1166114502 CA388048753 |
561 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA388048715 rs1323753074 |
563 | T>A | No |
ClinGen gnomAD |
|
|
rs1323753074 CA388048714 |
563 | T>P | No |
ClinGen gnomAD |
|
|
CA388048672 rs1566757002 |
565 | E>G | No |
ClinGen Ensembl |
|
|
rs1371013106 CA388048662 |
566 | S>R | No |
ClinGen gnomAD |
|
|
CA388048640 rs1169095316 |
567 | K>E | No |
ClinGen gnomAD |
|
|
rs768129634 CA6990668 |
567 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6990667 rs762224268 |
568 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1253334858 CA388048567 |
571 | Q>* | No |
ClinGen gnomAD |
|
|
CA6990664 rs763259178 |
571 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6990663 rs776300405 |
573 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA250095923 rs201085254 |
577 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1235866588 CA388048353 |
579 | V>E | No |
ClinGen gnomAD |
|
|
rs1235866588 CA388048350 |
579 | V>G | No |
ClinGen gnomAD |
|
|
rs1304869138 CA388048358 |
579 | V>L | No |
ClinGen gnomAD |
|
|
rs1334426897 CA388048345 |
580 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 581 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306740690 CA388048333 |
581 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 585 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002410372 CA250095917 |
586 | D>V | No |
ClinGen Ensembl |
|
|
rs578049542 CA6990643 |
587 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778396657 CA6990642 |
591 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990641 rs752031628 |
594 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 597 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 599 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388047892 rs1316081619 |
601 | M>T | No |
ClinGen gnomAD |
|
|
CA6990626 rs149641412 |
601 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6990625 rs746094328 |
603 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209729254 CA388047871 |
604 | P>S | No |
ClinGen gnomAD |
|
|
CA6990623 rs757316761 |
607 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6990624 rs757316761 |
607 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA388047839 rs1270882392 |
609 | T>A | No |
ClinGen gnomAD |
|
|
rs1593936853 CA388047813 |
612 | D>V | No |
ClinGen Ensembl |
|
|
CA6990620 rs138250063 |
614 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 615 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138342075 CA6990619 |
617 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388047762 rs1260229693 |
619 | Y>H | No |
ClinGen TOPMed |
|
|
rs753124298 CA6990618 |
620 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA388047668 rs1211561520 |
625 | H>R | No |
ClinGen TOPMed |
|
|
rs141453503 CA250094522 |
628 | Y>C | No |
ClinGen ESP |
|
| TCGA novel | 628 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388047606 rs1437000479 |
629 | T>I | No |
ClinGen gnomAD |
|
|
CA6990616 rs759885717 |
630 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772760716 CA6990615 |
631 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs974181800 CA250094515 |
632 | A>T | No |
ClinGen TOPMed |
|
|
rs1414841454 CA388047479 |
637 | H>N | No |
ClinGen gnomAD |
|
|
CA388047453 rs1200937271 |
638 | C>F | No |
ClinGen TOPMed |
|
|
rs1474497052 CA388047462 |
638 | C>R | No |
ClinGen gnomAD |
|
|
rs1474497052 CA388047465 |
638 | C>S | No |
ClinGen gnomAD |
|
|
rs375739928 CA6990614 |
639 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs761269830 CA6990613 |
640 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773984876 CA6990612 |
641 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6990593 rs763712188 |
642 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs763712188 CA6990594 |
642 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs199636624 CA6990592 |
643 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388046966 rs1345604922 |
644 | S>C | No |
ClinGen gnomAD |
|
|
CA6990590 rs139117802 |
645 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6990591 rs139117802 |
645 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6990587 rs771122425 |
646 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 646 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112828215 CA6990588 |
646 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388046910 rs1350129413 |
649 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777912045 CA6990585 |
650 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388046896 rs1374157772 |
651 | V>L | No |
ClinGen gnomAD |
|
|
rs1374157772 CA388046898 |
651 | V>M | No |
ClinGen gnomAD |
|
|
rs779435541 CA6990582 |
654 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6990581 rs112091705 |
655 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250091413 rs1003151989 |
655 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6990580 rs754223539 |
657 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 657 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990579 rs780472301 |
658 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947088478 CA250091380 |
659 | G>A | No |
ClinGen TOPMed |
|
|
CA388046792 rs1279525874 |
660 | G>E | No |
ClinGen gnomAD |
|
|
CA6990577 rs756376354 |
660 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA388046787 rs138340585 |
661 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138340585 CA6990576 |
661 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs537000760 CA250091361 |
661 | A>T | No |
ClinGen 1000Genomes |
|
|
COSM276302 CA6990575 rs138340585 |
661 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762594644 CA6990574 |
663 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175734962 CA388046755 |
667 | Q>* | No |
ClinGen TOPMed |
|
|
CA6990571 rs765150317 |
668 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA388046747 rs1411749046 |
668 | M>L | No |
ClinGen gnomAD |
|
|
CA388046745 rs1593929103 |
668 | M>T | No |
ClinGen Ensembl |
|
|
rs1566742772 CA388046737 |
669 | M>T | No |
ClinGen Ensembl |
|
|
rs780222456 CA6990570 |
670 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770769656 CA6990568 |
671 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770769656 CA388046725 |
671 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776361507 CA6990569 |
671 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA388046720 rs1336220899 |
672 | A>D | No |
ClinGen TOPMed |
|
|
rs1336220899 CA388046719 |
672 | A>G | No |
ClinGen TOPMed |
|
|
rs143577356 CA6990566 |
673 | D>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1593929001 CA388046703 |
675 | T>P | No |
ClinGen Ensembl |
|
|
rs1460229393 CA388046700 |
675 | T>S | No |
ClinGen gnomAD |
|
|
CA388046686 rs1339710287 |
677 | T>I | No |
ClinGen Ensembl |
|
|
rs1242885955 CA388046691 |
677 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA388046682 rs1339673173 |
678 | C>Y | No |
ClinGen TOPMed |
|
|
CA388046674 rs1274163058 |
679 | P>H | No |
ClinGen TOPMed |
|
|
rs1198937059 CA388046675 |
679 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs568862030 CA6990561 |
680 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568862030 CA6990560 COSM3376569 |
680 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM343471 CA6990556 rs777620965 |
683 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs758114121 CA6990555 |
685 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA388046637 rs1195612587 |
685 | E>G | No |
ClinGen TOPMed |
|
|
CA6990554 rs752317410 |
689 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250091242 rs961483746 |
689 | S>N | No |
ClinGen Ensembl |
|
|
rs145552435 CA388046609 |
690 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145552435 CA6990552 |
690 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145552435 CA6990553 |
690 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369306336 CA6990551 |
691 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6990550 rs199994194 COSM1367450 |
692 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6990549 rs200564973 |
692 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6990548 rs201832231 |
694 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1389921227 CA388046579 |
695 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 696 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388046569 rs1459588820 |
696 | K>R | No |
ClinGen gnomAD |
|
|
CA388046564 rs1367496053 |
697 | T>A | No |
ClinGen gnomAD |
|
|
CA250091201 rs1012761461 |
698 | K>E | No |
ClinGen Ensembl |
|
|
rs774379746 CA6990544 COSM191064 |
700 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 700 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA250091178 rs963407691 |
701 | Y>C | No |
ClinGen TOPMed |
|
|
CA388046518 rs1270478533 |
704 | V>M | No |
ClinGen TOPMed |
|
|
rs375086181 CA6990541 |
708 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749289270 CA6990542 |
708 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q6P3R8
5 regional properties for Q6P3R8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Helicase, C-terminal | 375 - 519 | IPR001650 |
| domain | DEAD/DEAH box helicase domain | 170 - 335 | IPR011545 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 165 - 362 | IPR014001 |
| domain | RNA helicase, DEAD-box type, Q motif | 146 - 174 | IPR014014 |
| domain | DDX52/Rok1, DEAD-box helicase domain | 157 - 350 | IPR044764 |
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 | |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
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. |
| 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. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P51957 | NEK4 | Serine/threonine-protein kinase Nek4 | Homo sapiens (Human) | PR |
| Q8NE28 | STKLD1 | Serine/threonine kinase-like domain-containing protein STKLD1 | Homo sapiens (Human) | PR |
| Q8K1R7 | Nek9 | Serine/threonine-protein kinase Nek9 | Mus musculus (Mouse) | SS |
| Q7TSC3 | Nek5 | Serine/threonine-protein kinase Nek5 | Mus musculus (Mouse) | PR |
| Q10GB1 | NEK1 | Serine/threonine-protein kinase Nek1 | Oryza sativa subsp japonica (Rice) | PR |
| Q6ZEZ5 | NEK3 | Serine/threonine-protein kinase Nek3 | Oryza sativa subsp japonica (Rice) | PR |
| Q9SLI2 | NEK1 | Serine/threonine-protein kinase Nek1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LT35 | NEK6 | Serine/threonine-protein kinase Nek6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RXT4 | NEK4 | Serine/threonine-protein kinase Nek4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDKYDVIKAI | GQGAFGKAYL | AKGKSDSKHC | VIKEINFEKM | PIQEKEASKK | EVILLEKMKH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PNIVAFFNSF | QENGRLFIVM | EYCDGGDLMK | RINRQRGVLF | SEDQILGWFV | QISLGLKHIH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DRKILHRDIK | AQNIFLSKNG | MVAKLGDFGI | ARVLNNSMEL | ARTCIGTPYY | LSPEICQNKP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YNNKTDIWSL | GCVLYELCTL | KHPFEGNNLQ | QLVLKICQAH | FAPISPGFSR | ELHSLISQLF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QVSPRDRPSI | NSILKRPFLE | NLIPKYLTPE | VIQEEFSHML | ICRAGAPASR | HAGKVVQKCK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IQKVRFQGKC | PPRSRISVPI | KRNAILHRNE | WRPPAGAQKA | RSIKMIERPK | IAAVCGHYDY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YYAQLDMLRR | RAHKPSYHPI | PQENTGVEDY | GQETRHGPSP | SQWPAEYLQR | KFEAQQYKLK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VEKQLGLRPS | SAEPNYNQRQ | ELRSNGEEPR | FQELPFRKNE | MKEQEYWKQL | EEIRQQYHND |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MKEIRKKMGR | EPEENSKISH | KTYLVKKSNL | PVHQDASEGE | APVQMEFRSC | CPGWSAMARS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WLTATSASQD | IEKDLKQMRL | QNTKESKNPE | QKYKAKKGVK | FEINLDKCIS | DENILQEEEA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| MDIPNETLTF | EDGMKFKEYE | CVKEHGDYTD | KAFEKLHCPE | AGFSTQTVAA | VGNRRQWDGG |
| 670 | 680 | 690 | 700 | ||
| APQTLLQMMA | VADITSTCPT | GPDSESVLSV | SRQEGKTKDP | YSPVLILM |