Q9NR20
Gene name |
DYRK4 |
Protein name |
Dual specificity tyrosine-phosphorylation-regulated kinase 4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8798 |
EC number |
2.7.12.1: Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
Protein Class |
|

Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
249-269 (Activation loop from InterPro)
Target domain |
104-400 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

1 structures for Q9NR20
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9NR20-F1 | Predicted | AlphaFoldDB |
476 variants for Q9NR20
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA6396896 rs138016131 |
2 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 3 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs111557443 CA231811869 |
6 | L>V | No |
ClinGen Ensembl |
|
rs148232276 CA6396898 |
12 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA383428809 rs148232276 |
12 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 13 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1176595000 CA383428816 |
13 | F>V | No |
ClinGen TOPMed gnomAD |
|
rs967736764 CA231811888 |
15 | P>H | No |
ClinGen Ensembl |
|
TCGA novel | 16 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA383428863 rs1408605523 |
19 | T>I | No |
ClinGen gnomAD |
|
CA231811893 rs267603477 |
20 | Q>* | No |
ClinGen Ensembl |
|
rs762336784 CA6396899 |
20 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765959517 CA6396900 |
23 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA231811922 rs765959517 |
23 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1591797443 CA383428885 |
23 | K>T | No |
ClinGen Ensembl |
|
TCGA novel | 26 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6396901 rs751155960 |
26 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1591797454 CA383428913 |
27 | K>E | No |
ClinGen Ensembl |
|
CA231811940 rs959843048 |
27 | K>R | No |
ClinGen Ensembl |
|
CA383428918 rs1377392991 |
28 | S>T | No |
ClinGen gnomAD |
|
CA383428925 rs1389341569 |
29 | P>A | No |
ClinGen TOPMed |
|
rs866936547 CA231811962 |
30 | K>N | No |
ClinGen Ensembl |
|
rs1402081240 CA383428954 |
33 | K>* | No |
ClinGen TOPMed |
|
CA6396903 rs535704578 |
34 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1331570834 CA383428968 |
35 | T>A | No |
ClinGen TOPMed |
|
CA6396904 rs141198151 |
37 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs150726529 CA6396905 |
38 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA383429357 rs1211783562 |
40 | E>D | No |
ClinGen gnomAD |
|
TCGA novel | 41 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1468794645 CA383429371 |
42 | L>Q | No |
ClinGen gnomAD |
|
CA383429368 rs2240763 |
42 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1255131704 CA383429386 |
43 | K>N | No |
ClinGen gnomAD |
|
rs370590188 CA6396925 |
43 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA231813776 rs200597785 |
47 | N>D | No |
ClinGen Ensembl |
|
rs750893511 CA6396926 |
47 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201436897 CA231813779 |
47 | N>T | No |
ClinGen Ensembl |
|
CA6396929 rs374489268 |
48 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6396928 rs780443245 |
48 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383429459 rs1163489988 |
50 | S>T | No |
ClinGen gnomAD |
|
rs55825154 CA6396932 |
54 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs911033284 CA231813857 |
55 | S>N | No |
ClinGen gnomAD |
|
rs1270379910 CA383429523 |
59 | G>C | No |
ClinGen gnomAD |
|
rs12306130 CA383429535 |
61 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs12306130 VAR_033900 CA6396936 |
61 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6396937 rs774187466 |
61 | A>V | No |
ClinGen ExAC gnomAD |
|
CA6396940 rs775111536 |
64 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775111536 CA383429558 |
64 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1242914379 CA383429574 |
67 | G>R | No |
ClinGen gnomAD |
|
rs554288890 CA6396941 |
67 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6396942 rs377694754 |
68 | L>P | No |
ClinGen ESP ExAC TOPMed |
|
CA383429588 rs1356699258 |
69 | E>A | No |
ClinGen TOPMed |
|
VAR_040465 | 70 | A>S | No | UniProt | |
CA6396943 rs71579238 |
71 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA231813937 rs903523440 |
72 | K>N | No |
ClinGen gnomAD |
|
rs766865898 CA6396945 |
74 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6396947 rs567542352 |
75 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6396948 rs767760845 |
75 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6396951 rs777871159 |
76 | A>G | No |
ClinGen ExAC gnomAD |
|
CA383429629 rs756336354 |
76 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6396950 rs756336354 |
76 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs555679721 CA6396952 |
83 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs757042179 CA6396953 |
84 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs150048576 CA383429695 |
85 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778888694 CA6396954 |
85 | F>S | No |
ClinGen ExAC gnomAD |
|
rs1451950652 CA383429700 |
86 | D>A | No |
ClinGen gnomAD |
|
rs771567729 CA6396956 |
87 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1002099396 CA231814065 |
89 | H>R | No |
ClinGen TOPMed |
|
rs774917137 CA6396957 |
89 | H>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 90 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA231814072 rs371271508 |
90 | G>S | No |
ClinGen ESP TOPMed |
|
CA6396958 rs746539217 |
93 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383429750 rs1224321089 |
93 | L>Q | No |
ClinGen TOPMed |
|
rs746486416 CA6396975 VAR_010721 |
95 | V>I | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA6396977 rs776320698 |
97 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776320698 CA6396978 |
97 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1165607611 CA383429783 |
97 | H>Y | No |
ClinGen gnomAD |
|
CA383429804 rs1391941177 |
100 | I>V | No |
ClinGen gnomAD |
|
CA6396979 rs375867790 |
103 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1368597301 CA383429826 |
103 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs981907009 CA231816585 |
104 | Y>D | No |
ClinGen Ensembl |
|
CA6396980 rs774788027 |
105 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772657205 CA6396982 |
106 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772657205 CA6396983 |
106 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383429847 rs1184397958 |
107 | L>M | No |
ClinGen TOPMed |
|
rs1289223890 CA383429858 |
108 | E>D | No |
ClinGen gnomAD |
|
CA231816633 rs867633350 |
108 | E>K | No |
ClinGen gnomAD |
|
rs867633350 CA383429852 |
108 | E>Q | No |
ClinGen gnomAD |
|
CA231816638 rs757177268 |
109 | T>A | No |
ClinGen Ensembl |
|
rs1338802648 CA383429865 |
110 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1240571226 CA383429871 CA383429872 |
111 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1467464171 CA383429887 |
113 | G>W | No |
ClinGen gnomAD |
|
CA383429908 rs1193317518 |
116 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA231816645 rs1018197341 |
117 | Q>R | No |
ClinGen TOPMed |
|
rs1253249924 CA383429923 |
118 | V>A | No |
ClinGen gnomAD |
|
CA383429929 rs1327677517 |
119 | A>V | No |
ClinGen TOPMed |
|
CA383429931 rs1434508428 |
120 | K>E | No |
ClinGen gnomAD |
|
TCGA novel | 123 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6396987 rs761876793 |
123 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1372051549 CA383429974 |
125 | K>N | No |
ClinGen gnomAD |
|
rs765460759 CA6396988 |
126 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs563856942 CA6396989 |
127 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 128 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA231816664 rs147920780 |
128 | E>K | No |
ClinGen Ensembl |
|
rs1460742202 CA383430005 |
130 | V>G | No |
ClinGen gnomAD |
|
rs142320223 CA6396990 |
130 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142320223 CA6396991 |
130 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6396992 rs751496925 |
131 | A>T | No |
ClinGen ExAC gnomAD |
|
CA383430018 rs1372039331 |
133 | K>* | No |
ClinGen gnomAD |
|
TCGA novel | 133 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1388783788 CA383430025 |
134 | I>V | No |
ClinGen gnomAD |
|
rs1293671112 CA383430031 |
135 | I>L | No |
ClinGen gnomAD |
|
rs1228236428 CA383430068 |
139 | K>N | No |
ClinGen gnomAD |
|
rs780631150 CA6396995 |
140 | R>K | No |
ClinGen ExAC gnomAD |
|
rs780631150 CA6396994 |
140 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs772561161 CA6397016 CA6397017 |
140 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1392469916 CA383430093 |
142 | H>Y | No |
ClinGen TOPMed |
|
rs747416114 CA383430108 |
144 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs747416114 CA6397018 |
144 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA6397019 rs768998640 |
145 | A>G | No |
ClinGen ExAC gnomAD |
|
CA383430115 rs1565539355 |
145 | A>S | No |
ClinGen Ensembl |
|
rs1420589537 CA383430122 |
146 | L>P | No |
ClinGen gnomAD |
|
TCGA novel | 146 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs868709118 CA231817006 |
147 | M>V | No |
ClinGen Ensembl |
|
CA231817016 rs267603479 |
148 | E>K | No |
ClinGen Ensembl |
|
rs769914275 CA6397022 |
149 | L>P | No |
ClinGen ExAC gnomAD |
|
CA383430140 rs748148722 |
149 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383430166 rs1265866397 |
153 | E>A | No |
ClinGen TOPMed |
|
TCGA novel | 153 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs140472890 CA6397023 |
154 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1489137993 CA383430175 |
154 | A>V | No |
ClinGen TOPMed |
|
rs1246958972 CA383430182 |
156 | R>G | No |
ClinGen TOPMed |
|
rs766590751 CA6397026 |
158 | K>R | No |
ClinGen ExAC gnomAD |
|
CA6397028 rs759395765 |
162 | N>S | No |
ClinGen ExAC gnomAD |
|
CA6397029 rs370245586 |
163 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA383430244 rs1485096254 |
164 | Y>C | No |
ClinGen gnomAD |
|
TCGA novel | 167 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1210890054 CA383430273 |
168 | H>R | No |
ClinGen gnomAD |
|
rs752719124 CA6397030 |
169 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383430292 rs755664062 |
171 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397031 rs755664062 |
171 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1243893467 CA383430299 |
172 | F>I | No |
ClinGen gnomAD |
|
rs1176436175 CA383430312 |
173 | F>C | No |
ClinGen gnomAD |
|
rs1228866525 CA383430325 |
175 | F>V | No |
ClinGen TOPMed |
|
CA6397032 rs763765045 |
176 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs763765045 CA383430332 |
176 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753404187 CA6397033 |
176 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs753404187 CA383430333 |
176 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397034 rs756914513 |
177 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383430338 rs1393433469 |
177 | N>S | No |
ClinGen gnomAD |
|
rs756914513 CA383430335 |
177 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778651816 CA6397035 |
178 | H>R | No |
ClinGen ExAC |
|
rs747298388 CA6397036 |
180 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 181 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6397037 rs755413598 |
181 | I>V | No |
ClinGen ExAC gnomAD |
|
CA6397038 rs56178846 |
182 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6397039 rs56178846 |
182 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6397040 rs769863193 |
183 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1169688181 CA383430380 |
183 | F>L | No |
ClinGen TOPMed |
|
CA6397041 rs773213017 |
184 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 185 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA231817203 rs916775083 |
187 | G>A | No |
ClinGen TOPMed gnomAD |
|
CA6397065 rs778982049 |
189 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_010722 rs3741927 CA6397066 |
189 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775366755 CA383430461 |
194 | M>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs775366755 CA6397069 |
194 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 195 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6397070 rs760566947 |
198 | N>S | No |
ClinGen ExAC gnomAD |
|
CA383430501 rs1406320822 |
199 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1406320822 CA383430500 |
199 | F>S | No |
ClinGen gnomAD |
|
TCGA novel | 199 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768672305 CA6397071 |
205 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1278236874 CA383430547 |
206 | I>T | No |
ClinGen gnomAD |
|
rs377433879 CA6397072 |
206 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6397074 rs764856147 |
207 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397073 rs761381002 |
207 | V>I | No |
ClinGen ExAC gnomAD |
|
rs750043434 CA6397075 |
208 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6397078 rs765964908 |
208 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397077 rs765964908 |
208 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750043434 CA6397076 |
208 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs141110512 CA6397079 |
209 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200170020 CA6397080 |
209 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1171923810 CA383430572 |
211 | T>I | No |
ClinGen TOPMed |
|
CA383430569 rs1565540126 |
211 | T>S | No |
ClinGen Ensembl |
|
CA383430580 rs1264041901 |
213 | S>P | No |
ClinGen gnomAD |
|
CA383430589 rs1186515069 |
214 | V>A | No |
ClinGen gnomAD |
|
CA6397084 rs757271050 |
217 | C>R | No |
ClinGen ExAC gnomAD |
|
CA383430622 rs1473339254 |
219 | Q>* | No |
ClinGen gnomAD |
|
rs1428204249 CA383430624 |
219 | Q>R | No |
ClinGen TOPMed |
|
CA383430639 rs1165317100 |
221 | L>F | No |
ClinGen gnomAD |
|
rs1405384430 CA383430640 |
221 | L>H | No |
ClinGen gnomAD |
|
CA6397085 rs371159844 |
222 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA231819156 rs866568899 |
223 | V>I | No |
ClinGen Ensembl |
|
TCGA novel | 224 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 225 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6397087 rs772286301 |
230 | D>N | No |
ClinGen ExAC gnomAD |
|
rs149277354 CA6397089 |
233 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs149277354 CA6397090 |
233 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6397113 rs143480249 |
234 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA383430750 rs770478238 |
236 | I>L | No |
ClinGen ExAC gnomAD |
|
CA383430753 rs1457603376 |
236 | I>R | No |
ClinGen TOPMed gnomAD |
|
CA383430752 rs1457603376 |
236 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA6397114 rs770478238 |
236 | I>V | No |
ClinGen ExAC gnomAD |
|
CA231819738 rs910864161 |
239 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA6397116 rs563226547 |
240 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6397117 rs563226547 |
240 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6397118 rs777004256 |
240 | Q>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 241 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1591803206 CA383430788 |
242 | G>C | No |
ClinGen Ensembl |
|
CA383430789 rs1467116333 |
242 | G>D | No |
ClinGen gnomAD |
|
rs1395619023 CA383430792 |
243 | Q>K | No |
ClinGen gnomAD |
|
CA6397120 rs765742184 |
243 | Q>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 245 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs750939044 CA6397121 |
245 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383430810 rs1448123807 |
246 | V>I | No |
ClinGen gnomAD |
|
CA6397125 rs147140039 |
254 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
CA6397126 rs781591353 |
255 | C>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 258 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA383430916 rs1406316200 |
258 | H>R | No |
ClinGen TOPMed |
|
CA383430910 rs1400318361 |
258 | H>Y | No |
ClinGen TOPMed |
|
CA6397129 rs777746913 |
259 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs777746913 CA383430925 |
259 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1261902133 | 261 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs749243941 CA6397130 |
261 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs553202084 CA6397153 |
262 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs778852958 CA6397152 |
262 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs866008182 CA231823610 |
262 | Y>H | No |
ClinGen TOPMed |
|
rs866008182 CA383431880 |
262 | Y>N | No |
ClinGen TOPMed |
|
CA6397154 rs573116023 |
263 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs370360080 CA383431892 |
263 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
rs370360080 CA383431894 |
263 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
rs370360080 CA6397155 |
263 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
CA383431902 rs1193329710 |
264 | Y>S | No |
ClinGen TOPMed gnomAD |
|
rs201060830 CA6397156 |
265 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs773388116 CA6397158 |
265 | I>T | No |
ClinGen ExAC gnomAD |
|
CA6397157 rs201060830 |
265 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs920336107 CA231823668 |
266 | Q>H | No |
ClinGen Ensembl |
|
CA383431926 rs1167510678 |
266 | Q>R | No |
ClinGen TOPMed |
|
rs763436728 CA6397159 |
267 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397160 rs771528443 |
268 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771528443 CA383431948 |
268 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383431947 rs1413797034 |
268 | R>W | No |
ClinGen TOPMed |
|
CA6397162 rs759669084 |
270 | Y>S | No |
ClinGen ExAC gnomAD |
|
rs752961920 CA6397165 |
271 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752961920 CA6397164 |
271 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397166 rs764391501 |
271 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1197045321 CA383431987 |
272 | S>P | No |
ClinGen gnomAD |
|
rs561851186 CA6397168 |
272 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA383432002 rs1263675812 |
273 | P>S | No |
ClinGen TOPMed |
|
rs757083454 CA6397169 |
275 | V>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 276 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6397172 rs757896950 |
277 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746538872 CA383432069 |
279 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746538872 CA383432067 |
279 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397175 rs370279595 |
279 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA6397174 rs746538872 |
279 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383432082 rs1258067852 |
280 | P>S | No |
ClinGen gnomAD |
|
rs749641359 CA6397177 |
281 | Y>* | No |
ClinGen ExAC gnomAD |
|
CA383432096 rs1157151205 |
281 | Y>C | No |
ClinGen gnomAD |
|
CA6397176 rs780934024 |
281 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA6397180 rs760188932 |
283 | V>A | No |
ClinGen ExAC gnomAD |
|
rs774986463 CA6397179 |
283 | V>L | No |
ClinGen ExAC gnomAD |
|
rs1321437057 CA383432127 |
284 | A>T | No |
ClinGen TOPMed |
|
rs1357474902 CA383432141 |
285 | I>V | No |
ClinGen gnomAD |
|
CA231823846 CA383432172 rs1047374411 |
287 | M>I | No |
ClinGen gnomAD |
|
CA6397182 rs775374814 |
287 | M>L | No |
ClinGen ExAC gnomAD |
|
rs775374814 CA6397183 |
287 | M>V | No |
ClinGen ExAC gnomAD |
|
CA6397184 rs371520861 |
288 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA383432184 rs1295806315 |
288 | W>L | No |
ClinGen TOPMed |
|
rs1308096867 CA383432193 |
289 | S>G | No |
ClinGen gnomAD |
|
rs754106376 CA383432197 |
289 | S>N | No |
ClinGen ExAC gnomAD |
|
CA383432191 rs1308096867 |
289 | S>R | No |
ClinGen gnomAD |
|
rs754106376 CA6397185 |
289 | S>T | No |
ClinGen ExAC gnomAD |
|
rs373007519 CA231823880 |
291 | G>R | No |
ClinGen ESP TOPMed |
|
CA6397186 rs377369723 |
292 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA383432265 rs1447101371 |
295 | A>G | No |
ClinGen TOPMed |
|
CA383432267 rs1210797005 |
296 | E>K | No |
ClinGen gnomAD |
|
rs750221184 CA6397188 |
298 | Y>D | No |
ClinGen ExAC gnomAD |
|
rs750221184 CA231823904 |
298 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA383432314 rs1432454099 |
300 | G>R | No |
ClinGen TOPMed |
|
rs1565542001 CA383432329 |
301 | Y>C | No |
ClinGen Ensembl |
|
rs758208345 CA6397190 |
302 | P>S | No |
ClinGen ExAC gnomAD |
|
CA6397192 rs575268141 |
304 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs150673847 CA6397193 |
305 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs900639812 CA231823972 |
306 | G>R | No |
ClinGen TOPMed |
|
CA6397196 rs757693098 |
307 | E>D | No |
ClinGen ExAC |
|
rs1232724867 CA383432394 |
307 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1464414228 CA383432407 |
308 | N>D | No |
ClinGen gnomAD |
|
CA383432446 rs779355419 |
311 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779355419 CA6397197 |
311 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383432443 rs779355419 |
311 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 312 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746248271 CA6397198 |
312 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA383432474 rs1227301074 |
313 | L>R | No |
ClinGen gnomAD |
|
CA383432495 rs1448596213 |
315 | C>Y | No |
ClinGen gnomAD |
|
CA6397199 rs200900846 |
317 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1565542962 CA383433389 |
319 | V>M | No |
ClinGen Ensembl |
|
CA6397222 rs769960503 |
320 | L>V | No |
ClinGen ExAC gnomAD |
|
rs201862244 CA383433454 |
322 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201862244 CA6397223 |
322 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs766256962 CA6397225 |
323 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759452878 CA6397227 |
324 | P>L | No |
ClinGen ExAC gnomAD |
|
rs139849675 CA6397228 |
325 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs760294743 CA6397230 |
326 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6397232 rs201010702 |
327 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1454871252 CA383433590 |
328 | I>M | No |
ClinGen TOPMed |
|
CA383433615 rs1380546799 |
329 | Q>R | No |
ClinGen TOPMed |
|
rs758684611 CA6397234 |
332 | S>F | No |
ClinGen ExAC |
|
rs992611095 CA383433703 |
333 | R>K | No |
ClinGen TOPMed |
|
CA231826537 rs992611095 |
333 | R>T | No |
ClinGen TOPMed |
|
rs752737393 CA231826545 |
334 | R>K | No |
ClinGen Ensembl |
|
rs751880189 CA6397236 |
338 | F>V | No |
ClinGen ExAC gnomAD |
|
rs1205918764 CA383422660 |
341 | K>T | No |
ClinGen gnomAD |
|
rs1438742386 CA383422676 |
342 | G>D | No |
ClinGen gnomAD |
|
CA383422668 rs1236014703 |
342 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1178840162 CA383422708 |
344 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1591809793 CA383422766 |
347 | I>T | No |
ClinGen Ensembl |
|
rs1476752804 CA383422790 |
348 | T>S | No |
ClinGen gnomAD |
|
rs768727442 CA6397270 |
349 | N>D | No |
ClinGen ExAC gnomAD |
|
rs373652947 CA6397271 |
349 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1565543968 CA383422830 |
351 | R>G | No |
ClinGen Ensembl |
|
TCGA novel | 351 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs543567366 CA6397274 |
352 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1446398559 CA383422978 |
353 | K>E | No |
ClinGen gnomAD |
|
rs200164942 CA6397277 |
353 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 354 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768937539 | 355 | R>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA383423012 rs1231093500 |
355 | R>K | No |
ClinGen gnomAD |
|
rs768937539 | 355 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs968326572 CA231786851 |
356 | Y>N | No |
ClinGen TOPMed |
|
rs759883221 CA6397279 |
357 | P>A | No |
ClinGen ExAC gnomAD |
|
CA231786856 rs965297175 |
358 | D>H | No |
ClinGen TOPMed |
|
CA383423067 rs1225858001 |
359 | S>F | No |
ClinGen gnomAD |
|
CA6397282 rs756556537 |
360 | K>R | No |
ClinGen ExAC gnomAD |
|
CA231786869 rs975670498 |
361 | D>G | No |
ClinGen gnomAD |
|
CA6397283 rs377022681 |
362 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6397284 rs753917453 |
362 | L>P | No |
ClinGen ExAC gnomAD |
|
rs757322889 CA6397286 |
363 | T>M | No |
ClinGen ExAC gnomAD |
|
rs757322889 CA6397285 |
363 | T>R | No |
ClinGen ExAC gnomAD |
|
CA383423136 rs370312719 CA231786898 |
364 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
CA6397289 rs779937110 |
364 | M>V | No |
ClinGen ExAC gnomAD |
|
CA383423140 rs144235733 |
365 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs144235733 CA6397290 |
365 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6397292 rs202082140 |
368 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6397294 rs182164909 |
369 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs762146419 CA6397293 |
370 | D>V | No |
ClinGen ESP ExAC |
|
CA231786919 rs779385374 |
371 | T>I | No |
ClinGen ExAC gnomAD |
|
CA6397295 rs779385374 |
371 | T>N | No |
ClinGen ExAC gnomAD |
|
CA383423231 rs1170210530 |
372 | S>G | No |
ClinGen gnomAD |
|
rs1591809904 CA383423247 |
373 | F>L | No |
ClinGen Ensembl |
|
CA383423276 rs1225949153 |
375 | D>V | No |
ClinGen gnomAD |
|
CA6397296 rs772850145 |
375 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748797716 CA231786936 |
376 | F>S | No |
ClinGen TOPMed |
|
rs1390587827 CA383423300 |
377 | L>F | No |
ClinGen gnomAD |
|
rs1317686040 CA383423328 |
379 | R>K | No |
ClinGen gnomAD |
|
rs200748194 CA231786949 |
380 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200748194 CA6397298 |
380 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs775784384 CA6397299 |
380 | C>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 381 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs761058659 CA383423364 |
382 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397300 rs761058659 |
382 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs189959614 CA6397319 |
383 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
TCGA novel | 386 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs201628488 CA6397320 |
388 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6397321 rs199775562 |
388 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6397322 rs777057114 |
389 | M>I | No |
ClinGen ExAC gnomAD |
|
CA383424693 rs1488601771 |
391 | P>A | No |
ClinGen gnomAD |
|
CA6397323 rs372119957 |
391 | P>L | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA383424736 rs1187110039 |
392 | D>G | No |
ClinGen gnomAD |
|
rs1423021798 CA383424727 |
392 | D>Y | No |
ClinGen gnomAD |
|
rs1309092786 CA383424822 |
396 | K>R | No |
ClinGen TOPMed |
|
CA6397326 rs201883485 |
397 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1359945884 CA383424953 |
402 | Q>* | No |
ClinGen gnomAD |
|
rs1454807225 CA383424968 |
402 | Q>H | No |
ClinGen gnomAD |
|
CA383424963 rs1210967438 |
402 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA383424974 rs1291129675 |
403 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA6397328 rs751885774 |
404 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs374813443 CA6397327 |
404 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs780786523 CA6397330 |
410 | P>L | No |
ClinGen ExAC gnomAD |
|
CA6397331 rs780786523 |
410 | P>R | No |
ClinGen ExAC gnomAD |
|
CA383425166 rs1353786560 |
412 | P>S | No |
ClinGen gnomAD |
|
TCGA novel | 413 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1217952203 CA383425187 |
413 | Q>R | No |
ClinGen gnomAD |
|
CA383425205 rs1182695267 |
414 | T>N | No |
ClinGen TOPMed |
|
TCGA novel | 415 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs775563511 CA231788039 |
415 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs35113975 CA383425217 |
415 | L>V | No |
ClinGen ExAC gnomAD |
|
rs770480005 CA6397336 |
416 | R>K | No |
ClinGen ExAC gnomAD |
|
CA383425267 rs1253767911 |
418 | S>Y | No |
ClinGen TOPMed |
|
rs1483502062 CA383425316 |
421 | F>L | No |
ClinGen TOPMed |
|
rs1446715134 CA383425372 |
423 | P>L | No |
ClinGen gnomAD |
|
rs1176977845 CA383425411 |
425 | E>D | No |
ClinGen gnomAD |
|
rs11554758 CA231788057 |
425 | E>Q | No |
ClinGen Ensembl |
|
CA231788066 rs1052965741 |
427 | R>G | No |
ClinGen TOPMed |
|
rs891585142 CA231788069 |
427 | R>M | No |
ClinGen TOPMed |
|
rs1161933948 CA383425470 |
429 | D>H | No |
ClinGen gnomAD |
|
CA6397333 rs1565544821 |
431 | V>D | No |
ClinGen Ensembl |
|
CA6397340 rs535517489 |
432 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6397342 rs776812376 |
434 | C>R | No |
ClinGen ExAC gnomAD |
|
CA383425527 rs1233105292 |
437 | S>A | No |
ClinGen TOPMed |
|
CA6397343 rs141423818 |
437 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs141423818 CA6397344 |
437 | S>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs763109309 CA6397346 |
438 | S>N | No |
ClinGen ExAC gnomAD |
|
CA383425538 rs766629556 |
439 | R>* | No |
ClinGen ExAC gnomAD |
|
rs766629556 CA6397347 |
439 | R>G | No |
ClinGen ExAC gnomAD |
|
CA383425539 rs1373431711 |
439 | R>K | No |
ClinGen gnomAD |
|
CA231788091 rs766629129 |
441 | A>P | No |
ClinGen Ensembl |
|
TCGA novel | 441 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6397370 rs545558326 |
442 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs763944754 CA6397373 |
445 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763944754 CA383425595 |
445 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397374 rs753642121 |
447 | E>G | No |
ClinGen ExAC TOPMed |
|
rs753642121 CA383425609 |
447 | E>V | No |
ClinGen ExAC TOPMed |
|
CA383425628 rs1270602776 |
450 | E>G | No |
ClinGen gnomAD |
|
VAR_014948 CA6397376 rs1801016 |
454 | D>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs749869548 CA6397377 |
457 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA383425679 rs749869548 |
457 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1169986712 CA383425682 |
458 | K>E | No |
ClinGen TOPMed |
|
CA6397379 rs547789452 |
460 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA383425703 rs1193543221 |
461 | Q>* | No |
ClinGen gnomAD |
|
CA231788415 rs770701789 |
462 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs746739303 CA6397380 |
463 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397381 rs754680021 |
464 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1412547175 CA383425735 |
466 | Q>E | No |
ClinGen gnomAD |
|
CA6397382 rs778228796 |
466 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA383425745 rs1565545232 |
467 | Q>R | No |
ClinGen Ensembl |
|
CA231788440 rs937148792 |
468 | D>Y | No |
ClinGen TOPMed |
|
rs749696146 CA6397384 |
469 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749696146 CA6397383 |
469 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762165041 CA6397385 |
470 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762165041 CA6397386 |
470 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397387 rs765652115 |
471 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA383425779 rs369962777 |
472 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1311712231 CA383425784 |
473 | G>A | No |
ClinGen TOPMed |
|
rs760827391 CA6397389 |
473 | G>R | Variant assessed as Somatic; 0.001017 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1382256542 CA383425793 |
475 | D>H | No |
ClinGen gnomAD |
|
rs373008691 CA231788456 |
476 | T>I | No |
ClinGen ESP TOPMed |
|
rs1317308515 CA383425807 |
477 | V>F | No |
ClinGen TOPMed gnomAD |
|
rs1205126918 CA383425832 |
481 | Q>* | No |
ClinGen gnomAD |
|
CA231788462 rs113141119 |
483 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA6397392 rs761636641 |
485 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs765058701 CA6397394 |
486 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397393 rs765058701 |
486 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757838690 CA6397395 |
487 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA231788490 rs1005525503 |
487 | K>N | No |
ClinGen Ensembl |
|
rs765844679 CA6397396 |
487 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369127483 CA6397397 |
488 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1369954172 CA383425903 |
488 | K>R | No |
ClinGen gnomAD |
|
rs199555716 CA6397398 |
489 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 491 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA383426005 rs1159090043 |
492 | A>V | No |
ClinGen gnomAD |
|
CA383426028 rs1410013691 |
493 | V>G | No |
ClinGen gnomAD |
|
rs781027073 CA6397399 |
494 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6397401 rs568761673 |
494 | G>V | No |
ClinGen 1000Genomes ExAC |
|
CA383426064 rs757689952 |
495 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757689952 CA6397402 |
495 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383426084 rs1591812248 |
496 | E>G | No |
ClinGen Ensembl |
|
CA383426108 rs1591812253 |
497 | V>G | No |
ClinGen Ensembl |
|
rs537540413 CA6397404 |
499 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA383426170 rs1374770756 |
500 | T>I | No |
ClinGen gnomAD |
|
CA231788517 rs759186486 |
501 | S>F | No |
ClinGen gnomAD |
|
rs759186486 CA383426186 |
501 | S>Y | No |
ClinGen gnomAD |
|
CA383426205 rs1321512576 |
502 | P>L | No |
ClinGen gnomAD |
|
CA6397406 rs551096769 |
503 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs747121514 CA6397407 |
505 | S>G | No |
ClinGen ExAC gnomAD |
|
rs768834407 CA6397408 |
505 | S>N | No |
ClinGen ExAC gnomAD |
|
rs376587934 CA6397409 |
506 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA383426380 rs1436748893 |
511 | K>N | No |
ClinGen gnomAD |
|
CA6397410 rs761579374 |
511 | K>R | No |
ClinGen ExAC gnomAD |
|
CA6397413 rs570890165 |
515 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA383426507 rs1034092114 |
517 | P>H | No |
ClinGen TOPMed gnomAD |
|
rs1034092114 CA231788539 |
517 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1175597883 CA383426502 |
517 | P>S | No |
ClinGen gnomAD |
|
CA383426522 rs1470795094 |
518 | P>A | No |
ClinGen gnomAD |
|
CA383426546 rs370396256 |
519 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370396256 CA6397414 |
519 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1398316561 CA383426596 |
521 | V>C | No |
ClinGen gnomAD |
No associated diseases with Q9NR20
Functions
Description | ||
---|---|---|
EC Number | 2.7.12.1 | Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
4 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
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. |
6 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 serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
2 GO annotations of biological process
Name | Definition |
---|---|
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
10 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q13627 | DYRK1A | Dual specificity tyrosine-phosphorylation-regulated kinase 1A | Homo sapiens (Human) | PR |
Q9H422 | HIPK3 | Homeodomain-interacting protein kinase 3 | Homo sapiens (Human) | SS |
Q8NE63 | HIPK4 | Homeodomain-interacting protein kinase 4 | Homo sapiens (Human) | PR |
Q9H2X6 | HIPK2 | Homeodomain-interacting protein kinase 2 | Homo sapiens (Human) | EV |
Q92630 | DYRK2 | Dual specificity tyrosine-phosphorylation-regulated kinase 2 | Homo sapiens (Human) | PR |
Q3V016 | Hipk4 | Homeodomain-interacting protein kinase 4 | Mus musculus (Mouse) | PR |
Q61214 | Dyrk1a | Dual specificity tyrosine-phosphorylation-regulated kinase 1A | Mus musculus (Mouse) | PR |
Q9QZR5 | Hipk2 | Homeodomain-interacting protein kinase 2 | Mus musculus (Mouse) | SS |
Q8BI55 | Dyrk4 | Dual specificity tyrosine-phosphorylation-regulated kinase 4 | Mus musculus (Mouse) | PR |
Q4V793 | Hipk4 | Homeodomain-interacting protein kinase 4 | Rattus norvegicus (Rat) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MPASELKASE | IPFHPSIKTQ | DPKAEEKSPK | KQKVTLTAAE | ALKLFKNQLS | PYEQSEILGY |
70 | 80 | 90 | 100 | 110 | 120 |
AELWFLGLEA | KKLDTAPEKF | SKTSFDDEHG | FYLKVLHDHI | AYRYEVLETI | GKGSFGQVAK |
130 | 140 | 150 | 160 | 170 | 180 |
CLDHKNNELV | ALKIIRNKKR | FHQQALMELK | ILEALRKKDK | DNTYNVVHMK | DFFYFRNHFC |
190 | 200 | 210 | 220 | 230 | 240 |
ITFELLGINL | YELMKNNNFQ | GFSLSIVRRF | TLSVLKCLQM | LSVEKIIHCD | LKPENIVLYQ |
250 | 260 | 270 | 280 | 290 | 300 |
KGQASVKVID | FGSSCYEHQK | VYTYIQSRFY | RSPEVILGHP | YDVAIDMWSL | GCITAELYTG |
310 | 320 | 330 | 340 | 350 | 360 |
YPLFPGENEV | EQLACIMEVL | GLPPAGFIQT | ASRRQTFFDS | KGFPKNITNN | RGKKRYPDSK |
370 | 380 | 390 | 400 | 410 | 420 |
DLTMVLKTYD | TSFLDFLRRC | LVWEPSLRMT | PDQALKHAWI | HQSRNLKPQP | RPQTLRKSNS |
430 | 440 | 450 | 460 | 470 | 480 |
FFPSETRKDK | VQGCHHSSRK | ADEITKETTE | KTKDSPTKHV | QHSGDQQDCL | QHGADTVQLP |
490 | 500 | 510 | |||
QLVDAPKKSE | AAVGAEVSMT | SPGQSKNFSL | KNTNVLPPIV |