Q13627
PR
Gene name |
DYRK1A |
Protein name |
Dual specificity tyrosine-phosphorylation-regulated kinase 1A |
Names |
Dual specificity YAK1-related kinase, HP86, Protein kinase minibrain homolog, MNBH, hMNB |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1859 |
EC number |
2.7.11.23: 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
306-326 (Activation loop from InterPro)
Target domain |
148-484 (Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
82 structures for Q13627
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2VX3 | X-ray | 240 A | A/B/C/D | 127-485 | PDB |
| 2WO6 | X-ray | 250 A | A/B | 127-485 | PDB |
| 3ANQ | X-ray | 260 A | A/B/C/D | 126-490 | PDB |
| 3ANR | X-ray | 260 A | A/B/C/D | 126-490 | PDB |
| 4AZE | X-ray | 315 A | A/B/C | 128-485 | PDB |
| 4MQ1 | X-ray | 235 A | A/B/C/D | 127-485 | PDB |
| 4MQ2 | X-ray | 280 A | A/B/C/D | 127-485 | PDB |
| 4NCT | X-ray | 260 A | A/B/C/D | 126-490 | PDB |
| 4YLJ | X-ray | 258 A | A/B/C/D | 127-485 | PDB |
| 4YLK | X-ray | 140 A | A | 127-485 | PDB |
| 4YLL | X-ray | 140 A | A | 127-485 | PDB |
| 4YU2 | X-ray | 290 A | A/B/C/D | 127-485 | PDB |
| 5A3X | X-ray | 226 A | A/B/C/D | 126-490 | PDB |
| 5A4E | X-ray | 268 A | A/B/C/D | 126-490 | PDB |
| 5A4L | X-ray | 273 A | A/B/C/D | 126-490 | PDB |
| 5A4Q | X-ray | 237 A | A/B/C/D | 126-490 | PDB |
| 5A4T | X-ray | 215 A | A/B/C/D | 126-490 | PDB |
| 5A54 | X-ray | 263 A | A/B/C/D | 126-490 | PDB |
| 5AIK | X-ray | 270 A | A/B/C/D | 128-485 | PDB |
| 6A1F | X-ray | 150 A | A | 127-483 | PDB |
| 6A1G | X-ray | 215 A | A/B | 127-483 | PDB |
| 6EIF | X-ray | 222 A | A/B/C/D | 126-490 | PDB |
| 6EIJ | X-ray | 242 A | A/B/C/D | 126-490 | PDB |
| 6EIL | X-ray | 246 A | A/B/C/D | 126-490 | PDB |
| 6EIP | X-ray | 256 A | A/B/C/D | 126-490 | PDB |
| 6EIQ | X-ray | 230 A | A/B/C/D | 126-490 | PDB |
| 6EIR | X-ray | 240 A | A/B/C/D | 126-490 | PDB |
| 6EIS | X-ray | 236 A | A/B/C/D | 126-490 | PDB |
| 6EIV | X-ray | 268 A | A/B/C/D | 126-490 | PDB |
| 6EJ4 | X-ray | 288 A | A/B/C/D | 126-490 | PDB |
| 6LN1 | X-ray | 270 A | A/B | 135-480 | PDB |
| 6QU2 | X-ray | 290 A | A/B/C/D | 127-485 | PDB |
| 6S11 | X-ray | 244 A | A/B | 127-485 | PDB |
| 6S14 | X-ray | 105 A | A | 127-485 | PDB |
| 6S17 | X-ray | 110 A | A | 127-485 | PDB |
| 6S1B | X-ray | 130 A | A | 127-485 | PDB |
| 6S1H | X-ray | 105 A | A | 127-485 | PDB |
| 6S1I | X-ray | 238 A | A/B/C/D | 127-485 | PDB |
| 6S1J | X-ray | 141 A | A | 127-485 | PDB |
| 6T6A | X-ray | 280 A | A/B/C/D | 127-485 | PDB |
| 6UIP | X-ray | 370 A | A/B/C | 127-485 | PDB |
| 6UWY | X-ray | 295 A | A/B/C/D | 127-485 | PDB |
| 6YF8 | X-ray | 320 A | A/B/C/D | 126-490 | PDB |
| 7A4O | X-ray | 190 A | A/B | 127-485 | PDB |
| 7A4R | X-ray | 180 A | A/B | 148-479 | PDB |
| 7A4S | X-ray | 310 A | A | 148-485 | PDB |
| 7A4W | X-ray | 270 A | A/B | 127-485 | PDB |
| 7A4Z | X-ray | 190 A | A | 148-485 | PDB |
| 7A51 | X-ray | 190 A | A | 148-485 | PDB |
| 7A52 | X-ray | 210 A | A/B | 148-479 | PDB |
| 7A53 | X-ray | 220 A | A/B | 148-485 | PDB |
| 7A55 | X-ray | 220 A | A/B | 127-485 | PDB |
| 7A5B | X-ray | 260 A | A/B | 127-485 | PDB |
| 7A5D | X-ray | 180 A | A | 148-485 | PDB |
| 7A5L | X-ray | 210 A | A | 148-485 | PDB |
| 7A5N | X-ray | 230 A | A/B | 148-485 | PDB |
| 7AJ2 | X-ray | 210 A | A | 148-485 | PDB |
| 7AJ4 | X-ray | 200 A | A | 148-485 | PDB |
| 7AJ5 | X-ray | 200 A | A | 148-485 | PDB |
| 7AJ7 | X-ray | 290 A | A | 148-485 | PDB |
| 7AJ8 | X-ray | 200 A | A | 148-485 | PDB |
| 7AJA | X-ray | 220 A | A | 148-485 | PDB |
| 7AJM | X-ray | 240 A | A/B | 148-479 | PDB |
| 7AJS | X-ray | 215 A | A/B | 148-479 | PDB |
| 7AJV | X-ray | 210 A | A/B | 148-485 | PDB |
| 7AJW | X-ray | 280 A | A | 148-485 | PDB |
| 7AJY | X-ray | 220 A | A/B | 148-485 | PDB |
| 7AK2 | X-ray | 210 A | A/B | 148-485 | PDB |
| 7AKA | X-ray | 190 A | A/B | 148-485 | PDB |
| 7AKB | X-ray | 280 A | A/B | 148-485 | PDB |
| 7AKE | X-ray | 230 A | A/B | 148-485 | PDB |
| 7AKL | X-ray | 200 A | A | 148-485 | PDB |
| 7FHS | X-ray | 242 A | A/B/C/D | 127-485 | PDB |
| 7FHT | X-ray | 268 A | A/B/C/D | 127-485 | PDB |
| 7O7K | X-ray | 182 A | A/B | 127-485 | PDB |
| 7OY6 | X-ray | 238 A | C | 127-485 | PDB |
| 7Z5N | X-ray | 277 A | A/B/C/D/E/F/G/H | 126-489 | PDB |
| 7ZH8 | X-ray | 230 A | A/B/C/D | 127-485 | PDB |
| 8C3G | X-ray | 208 A | A/B/C/D | 126-489 | PDB |
| 8C3Q | X-ray | 232 A | A/B | 126-489 | PDB |
| 8C3R | X-ray | 206 A | A/B | 126-489 | PDB |
| AF-Q13627-F1 | Predicted | AlphaFoldDB |
735 variants for Q13627
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001232564 RCV001564383 rs2052265794 |
7 | T>A | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10023699 RCV001205973 rs780200883 |
15 | V>I | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000536161 rs1057175147 CA409942215 |
16 | R>Q | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10023706 rs762466544 RCV000931147 |
30 | M>V | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001267544 rs2052270177 |
41 | S>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs367984873 CA10023713 RCV001712457 RCV000814785 |
43 | R>C | Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs750600368 RCV000816227 CA10023714 |
43 | R>H | Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000705630 CA409942577 rs1569354907 |
47 | N>D | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587776929 RCV000032822 |
48 | I>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1049763 CA10023719 RCV000806873 |
57 | S>P | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001208618 RCV002402612 rs1041691170 CA320471990 |
58 | Y>C | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000520960 rs373178770 CA409942688 RCV002250650 |
63 | Q>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000523249 rs373178770 CA409942689 RCV001857986 |
63 | Q>E | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569355102 RCV000735221 |
68 | N>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA409942726 RCV001252225 rs1555977171 |
69 | Q>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA320475607 RCV001493519 rs144261969 |
80 | R>L | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001265241 RCV000627602 rs1555979106 |
83 | Q>missing | Complex neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
CA409943399 rs1601219318 RCV000812317 |
85 | F>C | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10023758 rs759745713 RCV001342362 |
88 | P>S | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000032825 rs1064793546 RCV000483822 RCV001509579 |
97 | S>missing | Intellectual disability DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057519402 RCV000417097 |
100 | L>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658658890 RCV000543161 rs1555979158 |
104 | Y>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000190477 CA409943644 rs797044519 RCV002289712 CA278524 RCV000521626 |
104 | Y>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000413934 RCV001265465 CA16043144 RCV003168602 rs1057518204 RCV000499667 RCV000623331 |
117 | R>* | Complex neurodevelopmental disorder DYRK1A-related intellectual disability syndrome Variant assessed as Somatic; impact. DYRK1A-related disorder Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA409944039 RCV000760218 rs1555980234 |
121 | Q>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001058314 RCV000501770 rs991834315 RCV001662493 CA409944175 |
130 | K>N | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001214925 rs1297803457 |
135 | V>I | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750128893 RCV001064761 CA10023787 |
136 | Y>C | Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001296935 rs2052608605 |
137 | N>D | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA409944358 RCV000824283 rs1601230964 |
144 | N>S | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569363929 CA409944372 RCV001246678 |
145 | Y>C | Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2052610181 RCV001265240 |
151 | N>missing | Complex neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001281604 rs797044523 RCV000190482 RCV000622723 |
151 | N>missing | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190480 RCV001265238 rs797044521 |
154 | K>missing | Complex neurodevelopmental disorder DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305682 CA10023790 rs756654282 |
158 | R>H | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057516030 RCV000408621 CA10654752 |
159 | Y>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001061288 rs1049773 |
159 | Y>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2052612564 RCV001253225 |
168 | G>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000482962 CA16620996 rs1064796406 RCV002526665 RCV001507306 |
168 | G>D | Intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064796406 RCV001294451 |
168 | G>V | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA409944700 RCV000811825 rs1555980467 |
171 | G>R | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220655 rs2052870219 |
174 | V>I | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700316 rs1569370887 |
179 | R>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA320481156 RCV001034007 rs267606122 |
179 | R>C | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000623712 rs1555982591 |
187 | I>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001171513 rs2052872878 |
188 | K>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190483 CA278531 rs797044524 |
188 | K>I | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000593226 rs1555982601 RCV001867985 |
190 | I>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485794 RCV001265303 rs1064796367 RCV001251101 |
191 | K>missing | Complex neurodevelopmental disorder DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000224593 RCV000190478 RCV000149559 RCV001003637 RCV001267263 RCV000578685 rs724159949 CA278448 |
205 | R>* | Intellectual disability Global developmental delay Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome Microcephaly Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs757789128 RCV001036987 CA10023815 |
205 | R>Q | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000224418 RCV000149560 rs724159950 |
208 | E>missing | Intellectual disability Microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746177928 RCV000256014 CA10588709 RCV001265300 |
219 | Y>* | Complex neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA409947136 rs1462221945 RCV001263015 |
226 | R>C | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555984102 RCV000622636 RCV001265239 RCV001376170 |
229 | M>missing | Complex neurodevelopmental disorder DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000481862 RCV000698811 RCV001265464 CA10023842 rs780441716 RCV000622466 |
231 | R>* | Variant assessed as Somatic; 0.0 impact. Complex neurodevelopmental disorder DYRK1A-related intellectual disability syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1601267617 RCV000824848 |
235 | C>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000494603 rs1131691946 CA645369792 RCV001265308 |
235 | C>* | Complex neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001264823 rs2053036372 |
238 | F>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA278533 rs797044525 RCV000190484 |
245 | L>R | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000503841 RCV003126545 RCV001507325 rs724159948 CA278446 RCV000149558 RCV000760477 |
255 | R>* | Intellectual disability DYRK1A-related intellectual disability syndrome Variant assessed as Somatic; impact. Microcephaly Autism spectrum disorder [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001260698 rs2053040180 |
261 | L>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000306377 RCV003126661 CA10603500 RCV001255396 rs886041291 |
263 | R>* | Global developmental delay DYRK1A-related intellectual disability syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000623984 rs1555984304 |
277 | A>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001772202 rs1469221964 CA409947653 COSM252484 RCV001033985 |
277 | A>V | ovary Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000149565 rs724159954 |
282 | S>missing | Microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758888181 CA10023858 RCV000699804 RCV000500213 |
282 | S>N | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555984343 RCV001314065 |
287 | D>G | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA409947719 RCV000503079 rs1555984343 RCV001268091 |
287 | D>V | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000624220 rs1555984358 CA409947741 |
290 | P>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs797044526 CA278535 RCV000190485 RCV000255647 |
295 | L>F | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001175155 CA409947864 RCV000730365 rs1569376809 |
308 | F>S | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs797045540 CA278541 RCV000192601 |
308 | F>V | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000496117 RCV000438308 rs1039571136 CA16608057 |
311 | S>F | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA409947896 RCV000677426 rs1555984433 |
313 | Q>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000149562 rs724159952 |
316 | Q>missing | Microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555985524 CA409936375 RCV001253651 |
320 | Q>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569380375 RCV000770999 CA409936410 |
324 | S>R | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555985554 RCV000505215 CA409936429 |
327 | Y>C | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053150009 RCV001253787 |
336 | M>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000298119 rs886041658 RCV002519054 CA10603547 |
338 | Y>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA409936531 RCV000853585 rs1601280230 |
343 | D>V | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555985620 RCV000623656 |
344 | M>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302931 CA10023895 rs746978297 |
344 | M>T | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555985642 CA409936547 RCV002461933 RCV001265305 RCV000623151 |
345 | W>* | Complex neurodevelopmental disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000601140 CA409936554 rs1555985649 |
346 | S>F | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs724159951 CA278451 RCV000149561 |
346 | S>P | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000479364 rs1064794894 RCV002526592 |
351 | L>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs145857775 RCV000433815 CA10023898 RCV002311486 RCV000550099 |
356 | T>A | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555985742 RCV003128715 RCV000823165 CA409936686 |
366 | E>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000190481 rs797044522 |
368 | D>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002312456 rs758421024 CA10023924 |
378 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1222898147 RCV001303254 CA409936818 |
380 | P>S | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA409936888 rs1486953271 RCV001346930 |
385 | L>P | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555987107 RCV001268839 RCV001380647 CA409936911 |
387 | Q>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs797045042 RCV000191082 |
388 | A>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2053265002 RCV001260697 |
400 | D>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA320457202 rs764259930 RCV001345241 |
400 | D>H | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10023931 rs777270510 RCV000649335 |
402 | T>S | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001348132 rs2053265788 |
410 | D>G | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs724159956 RCV000149567 RCV001260675 |
413 | R>missing | Intellectual disability Microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369805539 RCV000697226 CA409937801 |
414 | E>D | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2053560557 RCV001313950 |
415 | Y>C | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064794006 RCV000481604 RCV001265463 |
416 | K>missing | Complex neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs978604744 RCV000818312 CA320464449 |
419 | G>A | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001238745 rs202011970 CA320464485 |
421 | R>H | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555990751 RCV000624425 |
422 | K>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000489519 rs202018285 CA10023955 RCV001298589 |
423 | L>F | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2053562261 RCV001034494 |
426 | I>S | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000518934 RCV001213397 rs1459549692 CA409938038 |
431 | T>A | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA409938071 RCV001251045 rs1555990805 |
433 | G>* | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000194800 rs797045539 |
434 | P>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555990816 RCV000622542 |
435 | G>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267631 CA278454 RCV000193013 RCV000413642 RCV001265301 COSM1414045 RCV000149564 rs724159953 |
437 | R>* | Complex neurodevelopmental disorder DYRK1A-related intellectual disability syndrome large_intestine Variant assessed as Somatic; impact. Microcephaly Inborn genetic diseases [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA409938141 RCV001224657 RCV001815518 rs1379071994 |
438 | R>H | DYRK1A-related intellectual disability syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001198032 rs2053564046 |
439 | A>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040552 CA10023964 rs759524625 |
445 | T>M | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001034331 rs2053565382 |
453 | K>R | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2053566124 RCV001253550 |
461 | D>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2053566582 RCV001197239 |
462 | Y>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2053566512 RCV001260677 |
462 | Y>H | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034138 CA10023971 rs756860738 |
464 | P>A | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000190479 CA278526 rs797044520 COSM230810 RCV000522958 RCV001731507 |
467 | R>* | DYRK1A-related intellectual disability syndrome skin DYRK1A-related disorder [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000434410 rs797045041 CA278538 RCV000191081 RCV001260679 RCV001265307 |
467 | R>Q | Intellectual disability Complex neurodevelopmental disorder DYRK1A-related intellectual disability syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555990946 RCV000509182 RCV001265306 |
468 | I>missing | Complex neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001265304 rs1555990958 RCV000500665 |
469 | Q>missing | Complex neurodevelopmental disorder DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA409938451 RCV000760561 RCV001254070 rs1555990955 |
469 | Q>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053567991 RCV001338259 |
470 | P>L | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002527146 RCV000497845 rs372217349 CA320464662 |
477 | S>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA409938576 rs1555991030 RCV000627052 |
486 | G>D | Intellectual disability syndrome due to a DYRK1A point mutation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel rs2053569503 RCV001341184 |
488 | N>T | DYRK1A-related intellectual disability syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000417095 rs1057519628 |
498 | A>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1447174732 RCV000539442 CA409938753 |
513 | S>T | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10023998 rs556482236 RCV001350906 |
519 | S>L | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA409938855 RCV002404309 RCV000502029 rs1448604709 RCV001865604 |
528 | R>W | Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001868362 COSM725174 CA10024011 rs757603372 RCV002316810 |
531 | P>S | lung Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs148756105 RCV000649326 RCV001796167 CA10024013 |
532 | T>M | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs780009759 RCV001326267 |
536 | R>G | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601319086 RCV000795332 |
537 | H>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369477265 RCV001034277 CA10024017 |
539 | G>S | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000649324 rs1555991472 CA409938938 |
541 | H>Y | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001068623 CA10024022 rs762519059 |
546 | V>M | Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000209829 RCV000419433 rs869312708 CA353407 |
547 | Q>* | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053592141 RCV001217752 |
547 | Q>R | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000481279 rs376106351 CA16621007 RCV001265302 |
551 | C>* | Complex neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001584495 CA10024025 RCV000649323 RCV002311986 rs759183785 |
553 | T>A | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000995762 rs1601319352 |
554 | H>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057825 rs1261272756 |
554 | H>P | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246647 CA10024027 rs199807626 |
555 | S>C | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA10024028 RCV001034109 rs757734901 |
556 | P>S | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000493089 CA409939048 RCV002527115 rs1131692019 |
557 | Q>E | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001308928 rs1453245604 |
567 | G>V | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000649321 rs771373401 CA10024084 |
577 | V>L | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000711512 RCV000815038 rs774075762 CA10024085 |
578 | T>A | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000813686 rs1601334526 CA409939411 |
580 | E>G | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001330588 rs2053762752 |
581 | T>A | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA249905 RCV000824818 rs724159955 RCV000149566 |
588 | T>N | DYRK1A-related intellectual disability syndrome Microcephaly [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001078788 rs149948846 CA10024089 RCV000523864 RCV002404342 |
588 | T>P | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000711513 rs200808105 RCV000685711 CA10024093 |
597 | A>T | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2053764972 RCV001034335 |
597 | A>V | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1240334378 RCV001351529 |
601 | H>Y | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064364 rs758314164 CA10024095 |
602 | H>L | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA409939568 rs1468488019 RCV001044780 |
604 | N>D | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001034220 rs2053766726 |
614 | H>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038653 RCV000827252 rs752377554 |
616 | H>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207071 CA10024114 rs760957728 RCV002286820 |
616 | H>D | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000932997 rs760576043 |
616 | H>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493224 RCV002413358 RCV001696973 rs760576043 RCV000686520 |
618 | H>missing | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760576043 RCV000649325 |
619 | H>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760576043 RCV000894210 RCV002409148 |
619 | H>missing | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002225825 rs761460441 RCV001327008 CA10024121 |
627 | R>Q | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002317999 CA10024123 RCV001592921 RCV000882584 rs147650865 |
633 | Y>F | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000348174 RCV000800855 CA10024125 RCV002518988 rs370090236 |
634 | N>S | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001336363 rs142149555 CA10024128 RCV000493407 |
637 | T>M | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2053772423 TCGA novel RCV001049223 |
651 | S>N | DYRK1A-related intellectual disability syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001238498 rs1555995028 |
666 | S>L | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000841415 rs756785454 RCV000649327 CA10024146 RCV002531942 |
675 | Q>H | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10024148 RCV001308089 rs543826218 |
677 | N>S | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_040453 RCV000193270 RCV001080736 RCV002314810 RCV000224108 CA206632 rs55720916 |
679 | A>P | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001215853 rs201554841 CA10024150 RCV001698434 COSM1713983 |
683 | R>C | DYRK1A-related intellectual disability syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001323298 rs1454442286 RCV002276692 CA409940415 |
691 | D>E | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001344131 rs773551586 |
691 | D>V | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763795503 CA10024160 RCV001034507 |
704 | V>A | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001569610 CA10024159 rs200597760 RCV001252224 RCV001401910 |
704 | V>I | Intellectual disability DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756765804 CA10024162 RCV001071180 |
705 | Y>F | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs151303959 CA10024163 RCV002422378 RCV000649320 |
707 | N>S | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs781697806 RCV000795046 RCV001281504 CA10024166 |
709 | R>C | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs374771208 RCV001034117 RCV002416319 CA10024167 |
709 | R>H | Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001237816 rs774450081 CA10024172 |
719 | T>A | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000977821 rs1601336491 CA409941217 |
722 | F>V | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs143498500 CA10024175 RCV001034527 RCV002427476 |
724 | A>G | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1317673533 RCV002261119 CA409941316 RCV000530906 |
726 | T>R | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001055184 CA10024178 RCV002418283 rs201958918 RCV000435667 |
739 | M>L | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003165432 RCV001062582 rs201958918 CA208087 RCV000194127 |
739 | M>V | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs887440216 CA409941852 RCV000543371 |
748 | S>F | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753226962 CA10024183 RCV001489153 RCV001772018 RCV002317605 |
749 | P>L | Variant assessed as Somatic; 0.0 impact. DYRK1A-related intellectual disability syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001655717 rs2053783768 RCV001352230 |
750 | M>missing | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147973077 CA10024185 RCV000559202 RCV001722507 |
751 | T>S | DYRK1A-related intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001230506 CA10024187 RCV002447151 rs771118827 |
763 | S>L | DYRK1A-related intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10023650 rs747540667 |
2 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1555960035 CA409967815 |
4 | G>* | No |
ClinGen Ensembl |
|
|
CA409942035 rs1555976928 |
5 | G>* | No |
ClinGen Ensembl |
|
|
CA409942057 rs757452222 |
6 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs757452222 CA10023695 |
6 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 8 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 9 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 9 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555976936 CA409942136 |
10 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA409942147 rs1555976941 |
11 | K>* | No |
ClinGen Ensembl |
|
|
rs778892348 CA10023696 |
12 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771919737 CA10023698 |
14 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs780200883 CA10023700 |
15 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA320471798 rs1057175147 |
16 | R>L | No |
ClinGen TOPMed |
|
|
COSM444439 rs1409541555 CA409942213 |
16 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768615289 CA10023701 |
17 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA320471805 COSM122743 rs1056885794 |
19 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs776541736 CA10023702 |
19 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769445831 CA10023704 |
27 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs772599209 CA409942382 |
29 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs772599209 CA10023705 |
29 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA409942397 rs762466544 |
30 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765791729 CA10023707 |
31 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA409942425 rs1447082182 |
32 | G>* | No |
ClinGen gnomAD |
|
|
rs1049756 CA320471864 |
32 | G>A | No |
ClinGen Ensembl |
|
|
rs1447082182 CA409942423 |
32 | G>R | No |
ClinGen gnomAD |
|
|
rs1555977020 CA409942436 |
33 | Q>* | No |
ClinGen Ensembl |
|
|
CA409942440 rs1316698572 |
33 | Q>R | No |
ClinGen TOPMed |
|
|
rs1471802278 CA409942476 |
35 | P>L | No |
ClinGen gnomAD |
|
|
CA320471869 RCV000502739 rs968549141 |
35 | P>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA409942524 rs1555977035 |
39 | Q>* | No |
ClinGen Ensembl |
|
|
rs754161665 CA10023711 |
41 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10023712 rs754161665 |
41 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10023715 rs758573762 |
44 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10023716 rs780254690 |
44 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555977056 CA409942564 |
45 | Q>* | No |
ClinGen Ensembl |
|
|
CA320471948 rs1049760 |
47 | N>S | No |
ClinGen Ensembl |
|
|
rs1284054066 CA409942583 |
48 | I>L | No |
ClinGen gnomAD |
|
|
CA409942587 rs1303278052 |
48 | I>T | No |
ClinGen TOPMed |
|
|
RCV000598814 rs1555977071 |
49 | S>missing | No |
ClinVar dbSNP |
|
|
CA409942608 rs1555977077 RCV000760626 |
51 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555977083 CA409942616 |
52 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555977119 CA409942674 |
61 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 62 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10023722 rs373178770 |
63 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555977135 CA409942697 |
64 | Q>* | No |
ClinGen Ensembl |
|
|
CA409942705 rs1331254011 |
65 | P>S | No |
ClinGen Ensembl |
|
|
CA409942711 rs903016731 |
66 | L>P | No |
ClinGen TOPMed |
|
|
CA320472003 rs903016731 |
66 | L>Q | No |
ClinGen TOPMed |
|
|
CA10023725 rs773802285 |
68 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 71 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329269429 CA409943242 |
72 | P>S | No |
ClinGen gnomAD |
|
|
rs1569360369 CA409943273 |
74 | I>T | No |
ClinGen Ensembl |
|
|
rs888322675 CA320475599 |
75 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409943306 rs1455076149 |
76 | M>R | No |
ClinGen TOPMed |
|
|
CA10023754 rs144261969 |
80 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1030605 CA10023753 rs770246267 |
80 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1481588592 CA409943373 |
81 | M>I | No |
ClinGen gnomAD |
|
|
CA409943384 rs1555979111 |
83 | Q>* | No |
ClinGen Ensembl |
|
|
rs1601219303 CA409943390 |
84 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 86 | R>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 86 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601219367 CA409943447 |
89 | A>G | No |
ClinGen Ensembl |
|
|
rs767489712 CA10023759 |
90 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1388649650 CA409943490 |
93 | L>V | No |
ClinGen gnomAD |
|
|
CA409943500 rs1555979127 |
94 | R>* | No |
ClinGen Ensembl |
|
|
rs1555979131 CA409943516 |
95 | K>* | No |
ClinGen Ensembl |
|
|
rs1449066523 CA409943529 |
96 | L>V | No |
ClinGen TOPMed |
|
|
rs141200890 CA10023761 |
101 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA409943606 rs1555979156 |
102 | K>* | No |
ClinGen Ensembl |
|
|
rs1555979164 CA409943651 |
105 | K>* | No |
ClinGen Ensembl |
|
|
rs1555979170 CA409943692 |
109 | E>* | No |
ClinGen Ensembl |
|
|
CA320476774 rs58540362 |
111 | Y>* | No |
ClinGen Ensembl |
|
|
rs1387144294 CA409943955 |
114 | K>R | No |
ClinGen gnomAD |
|
|
rs1555980192 RCV000627487 |
115 | K>missing | No |
ClinVar dbSNP |
|
|
rs1555980196 CA409943964 |
115 | K>* | No |
ClinGen Ensembl |
|
| rs1555980192 | 115 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409943979 rs1555980198 |
116 | K>* | No |
ClinGen Ensembl |
|
|
rs1555980209 CA409943996 |
118 | R>* | No |
ClinGen Ensembl |
|
|
rs1555980223 CA409944026 |
120 | Q>* | No |
ClinGen Ensembl |
|
|
RCV000357180 rs886041833 |
123 | Q>missing | No |
ClinVar dbSNP |
|
|
CA409944073 COSM1632477 rs1555980241 |
123 | Q>* | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA320476813 rs1049768 |
123 | Q>R | No |
ClinGen gnomAD |
|
|
rs1555980252 CA409944084 |
124 | G>* | No |
ClinGen Ensembl |
|
|
rs959419590 CA320476816 |
126 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 126 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 127 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338197946 CA409944133 |
128 | S>G | No |
ClinGen gnomAD |
|
|
rs1555980277 CA409944170 |
130 | K>* | No |
ClinGen Ensembl |
|
|
rs1555980285 CA409944182 |
131 | K>* | No |
ClinGen Ensembl |
|
|
rs145621609 CA10023786 |
131 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1555980296 CA409944197 |
132 | E>* | No |
ClinGen Ensembl |
|
|
CA409944221 rs1555980307 |
134 | K>* | No |
ClinGen Ensembl |
|
|
CA409944235 rs1297803457 |
135 | V>F | No |
ClinGen gnomAD |
|
|
CA409944234 rs1297803457 |
135 | V>L | No |
ClinGen gnomAD |
|
|
rs758001054 CA10023788 |
137 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA409944282 rs1254602337 |
139 | G>S | No |
ClinGen gnomAD |
|
|
CA409944300 rs1406300993 |
140 | Y>F | No |
ClinGen gnomAD |
|
|
CA409944345 rs1601230954 |
143 | D>G | No |
ClinGen Ensembl |
|
|
CA409944400 rs1204853440 |
147 | Y>C | No |
ClinGen gnomAD |
|
|
rs1555980352 CA409944437 |
150 | K>* | No |
ClinGen Ensembl |
|
| rs797044523 | 151 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 151 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409944460 rs1463551651 |
152 | G>* | No |
ClinGen gnomAD |
|
|
rs1463551651 CA409944458 |
152 | G>R | No |
ClinGen gnomAD |
|
|
rs1555980376 CA409944466 |
153 | E>* | No |
ClinGen Ensembl |
|
|
rs1188188173 CA409944474 |
154 | K>* | No |
ClinGen gnomAD |
|
|
rs1188188173 CA409944473 |
154 | K>E | No |
ClinGen gnomAD |
|
|
rs1555980395 CA409944483 COSM248754 |
155 | W>* | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1555980399 COSM248754 CA409944486 |
155 | W>* | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1236345875 CA409944506 |
157 | D>N | No |
ClinGen TOPMed |
|
|
CA409944518 rs1430485659 |
158 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1470299902 CA409944546 |
160 | E>* | No |
ClinGen gnomAD |
|
|
rs1470299902 COSM274912 CA409944548 |
160 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1555980430 CA409944615 |
164 | L>* | No |
ClinGen Ensembl |
|
|
CA409944610 rs1218945564 |
164 | L>V | No |
ClinGen gnomAD |
|
|
rs1555980448 CA409944652 |
167 | K>* | No |
ClinGen Ensembl |
|
|
CA409944655 rs1456204748 |
167 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV001090979 rs2052612748 |
168 | G>missing | No |
ClinVar dbSNP |
|
|
CA409944698 rs1320847525 |
170 | F>L | No |
ClinGen gnomAD |
|
|
CA409944702 COSM579225 rs1555980467 |
171 | G>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA409944712 rs1555980470 |
172 | Q>* | No |
ClinGen Ensembl |
|
|
CA409945529 rs1555982544 |
175 | K>* | No |
ClinGen Ensembl |
|
|
rs2052870452 RCV001312005 |
176 | A>S | No |
ClinVar dbSNP |
|
|
RCV000493768 CA409945574 rs1131691866 |
178 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1064795563 RCV000478619 |
179 | R>missing | No |
ClinVar dbSNP |
|
|
CA409945603 rs1555982559 |
181 | E>* | No |
ClinGen Ensembl |
|
|
CA10023812 rs754511244 |
181 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10023811 rs751208263 |
181 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA409945614 rs1490461709 |
182 | Q>* | No |
ClinGen gnomAD |
|
|
rs1490461709 CA409945613 |
182 | Q>E | No |
ClinGen gnomAD |
|
|
CA409945627 rs1555982571 |
183 | E>* | No |
ClinGen Ensembl |
|
|
CA409945635 rs554539619 |
183 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409945642 rs1555982575 |
184 | W>* | No |
ClinGen Ensembl |
|
|
CA409945647 rs1555982577 |
184 | W>* | No |
ClinGen Ensembl |
|
|
rs749857925 CA10023814 |
185 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555982594 CA409945692 |
188 | K>* | No |
ClinGen Ensembl |
|
|
rs1555982609 CA409945735 |
191 | K>* | No |
ClinGen Ensembl |
|
|
rs1057518580 RCV000414435 |
193 | K>missing | No |
ClinVar dbSNP |
|
|
CA409945767 rs1555982613 |
193 | K>* | No |
ClinGen Ensembl |
|
|
CA409945784 rs1555982621 |
194 | K>* | No |
ClinGen Ensembl |
|
|
rs1555982627 CA409945850 |
199 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555982630 RCV000498746 CA409945876 |
201 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA409945921 rs1555982634 |
203 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1555982676 CA409946000 |
208 | E>* | No |
ClinGen Ensembl |
|
|
rs1213665775 CA409946012 |
209 | L>V | No |
ClinGen TOPMed |
|
|
rs1426136387 CA409946032 |
210 | M>I | No |
ClinGen gnomAD |
|
|
rs1305399227 CA409946045 |
211 | N>S | No |
ClinGen gnomAD |
|
|
rs1601253237 RCV001009094 |
212 | K>missing | No |
ClinVar dbSNP |
|
|
CA409946055 rs1555982692 |
212 | K>* | No |
ClinGen Ensembl |
|
|
CA320481239 rs754006983 |
214 | D>G | No |
ClinGen Ensembl |
|
|
CA409946113 rs1555982697 |
216 | E>* | No |
ClinGen Ensembl |
|
|
rs1555982699 CA409946147 |
218 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 218 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299183750 CA409946180 |
219 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001696925 rs1555984071 CA409947098 |
223 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA409947108 rs1555984080 |
224 | L>* | No |
ClinGen Ensembl |
|
|
CA409947122 rs1555984087 |
225 | K>* | No |
ClinGen Ensembl |
|
|
CA10023841 rs758727805 |
226 | R>H | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409947183 rs1475520186 |
229 | M>I | No |
ClinGen gnomAD |
|
|
rs1230046216 COSM3423950 COSM3423951 CA409947208 |
231 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1555984132 CA409947267 |
235 | C>* | No |
ClinGen Ensembl |
|
|
rs1555984143 CA409947311 |
239 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10023843 COSM1294024 rs747214593 |
240 | M>I | cervix [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA409947345 RCV000594245 rs1555984150 |
241 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000255745 rs886039660 |
243 | Y>missing | No |
ClinVar dbSNP |
|
|
CA409947364 rs1451216592 |
243 | Y>D | No |
ClinGen gnomAD |
|
|
rs1555984187 CA409947438 |
248 | L>* | No |
ClinGen Ensembl |
|
|
CA409947458 rs1555984198 |
250 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 250 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234868870 CA409947467 |
250 | R>S | No |
ClinGen gnomAD |
|
|
CA409947475 rs1470970890 |
251 | N>H | No |
ClinGen gnomAD |
|
|
rs769854828 CA10023847 |
253 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555984224 CA409947533 |
259 | L>* | No |
ClinGen Ensembl |
|
|
CA409947561 rs1555984237 |
264 | K>* | No |
ClinGen Ensembl |
|
|
RCV000599515 rs1555984238 |
264 | K>N | No |
ClinVar dbSNP |
|
|
rs1555984245 CA409947583 |
267 | Q>* | No |
ClinGen Ensembl |
|
|
CA10023852 rs759144008 |
267 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA409947589 rs1555984255 |
268 | Q>* | No |
ClinGen Ensembl |
|
|
rs767212786 CA10023853 |
269 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555984273 CA409947610 |
270 | C>* | No |
ClinGen Ensembl |
|
|
rs1385723072 CA409947620 |
272 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409947645 rs1177677807 |
276 | L>F | No |
ClinGen TOPMed |
|
|
CA16621000 RCV000478835 rs1064795422 |
277 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555984310 CA409947667 |
280 | E>* | No |
ClinGen Ensembl |
|
|
rs1601269091 RCV001008591 |
281 | L>missing | No |
ClinVar dbSNP |
|
|
rs758888181 CA409947683 |
282 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs780310443 COSM77623 CA10023859 |
283 | I>V | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1555984337 CA409947714 |
286 | C>* | No |
ClinGen Ensembl |
|
|
rs1555984351 CA409947731 |
289 | K>* | No |
ClinGen Ensembl |
|
|
CA409947745 rs1555984365 |
291 | E>* | No |
ClinGen Ensembl |
|
|
rs1384337682 CA409947760 |
293 | I>V | No |
ClinGen gnomAD |
|
|
rs1555984391 CA409947783 |
296 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 299 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs951202495 CA320483557 |
299 | K>R | No |
ClinGen Ensembl |
|
|
CA10023865 rs777888971 |
303 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1030610 CA320483570 rs1039571136 |
311 | S>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA409947892 rs1555984429 |
312 | C>* | No |
ClinGen Ensembl |
|
|
rs770863323 CA10023867 |
313 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA409947899 rs1226485538 |
313 | Q>R | No |
ClinGen gnomAD |
|
|
rs1555984447 CA409947903 |
314 | L>* | No |
ClinGen Ensembl |
|
|
rs1555984455 CA409947916 |
316 | Q>* | No |
ClinGen Ensembl |
|
|
rs1206544005 CA409936022 |
317 | R>S | No |
ClinGen gnomAD |
|
|
CA409936396 rs1555985532 RCV000521035 COSM357588 |
323 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| TCGA novel | 323 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16621001 RCV000483733 rs1064796923 |
325 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA16043240 rs113004433 RCV000413543 |
328 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA409936451 rs1555985565 |
331 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 331 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393047860 CA409936462 |
332 | V>A | No |
ClinGen gnomAD |
|
|
CA409936475 rs1555985585 |
335 | G>* | No |
ClinGen Ensembl |
|
|
CA409936484 rs1381315963 |
336 | M>R | No |
ClinGen gnomAD |
|
|
CA409936488 rs1260158906 |
337 | P>S | No |
ClinGen gnomAD |
|
|
rs886041778 RCV000390632 |
338 | Y>missing | No |
ClinVar dbSNP |
|
|
rs776014476 CA10023893 |
339 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs200519444 CA10023894 |
341 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001290619 rs1601280230 RCV003127761 |
343 | D>G | No |
ClinVar dbSNP |
|
|
rs528970716 CA320455033 |
344 | M>I | No |
ClinGen 1000Genomes |
|
|
CA409936544 rs1555985637 |
345 | W>* | No |
ClinGen Ensembl |
|
|
RCV001200269 rs2053152079 |
348 | G>W | No |
ClinVar dbSNP |
|
|
rs1555985684 CA409936573 |
349 | C>* | No |
ClinGen Ensembl |
|
|
rs1555985700 CA409936598 |
353 | E>* | No |
ClinGen Ensembl |
|
|
rs760017848 CA10023897 |
354 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA409936627 rs1555985724 |
357 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA409936633 rs1555985728 |
358 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 361 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756333908 CA10023901 |
365 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756333908 CA10023900 |
365 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA637797662 rs1475454809 |
367 | V>TPSRH* | No |
ClinGen gnomAD |
|
|
CA409936718 rs1555987037 |
369 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA409936723 rs1420953212 |
369 | Q>H | No |
ClinGen gnomAD |
|
|
rs765388051 CA10023922 |
370 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1238399403 CA409936726 |
370 | M>V | No |
ClinGen TOPMed |
|
|
CA409936743 rs1555987054 |
372 | K>* | No |
ClinGen Ensembl |
|
|
rs1032968233 CA320457148 |
374 | V>A | No |
ClinGen TOPMed |
|
|
CA409936763 rs1555987061 |
375 | E>* | No |
ClinGen Ensembl |
|
|
RCV000256031 rs886039652 |
376 | V>missing | No |
ClinVar dbSNP |
|
|
CA409936795 rs1384236840 |
378 | G>D | No |
ClinGen gnomAD |
|
|
rs751534403 CA10023926 |
379 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1285273662 CA409936829 |
381 | P>T | No |
ClinGen gnomAD |
|
|
rs1064796623 RCV000486973 CA16621003 |
382 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs754846308 CA10023927 |
383 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1315142043 CA409936857 |
383 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10023928 rs780831527 |
384 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10023929 rs747860415 |
391 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409936978 rs1555987126 |
392 | R>* | No |
ClinGen Ensembl |
|
|
rs1555987137 CA409936996 |
393 | K>* | No |
ClinGen Ensembl |
|
|
rs138755502 CA409937026 |
394 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs965505397 CA320457194 |
395 | F>C | No |
ClinGen Ensembl |
|
|
RCV001171563 rs2053264281 |
395 | F>L | No |
ClinVar dbSNP |
|
|
CA409937048 rs1555987155 |
396 | E>* | No |
ClinGen Ensembl |
|
|
CA409937067 rs1555987160 |
397 | K>* | No |
ClinGen Ensembl |
|
|
CA409937086 rs1555987170 |
398 | L>* | No |
ClinGen Ensembl |
|
|
CA409937084 rs1417954535 |
398 | L>V | No |
ClinGen gnomAD |
|
|
CA409937140 rs1555987181 |
403 | W>* | No |
ClinGen Ensembl |
|
|
CA409937143 rs1555987185 |
403 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 403 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409937163 rs1555987187 |
406 | K>* | No |
ClinGen Ensembl |
|
|
CA409937171 rs1555987189 |
407 | K>* | No |
ClinGen Ensembl |
|
|
rs141150482 CA409937184 |
409 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141150482 CA10023932 |
409 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1131691453 CA409937203 RCV000494518 |
411 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555987208 CA409937206 |
412 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 412 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770415010 CA10023933 |
413 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs918289557 CA320457214 |
413 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA409937794 rs1555990703 |
414 | E>* | No |
ClinGen Ensembl |
|
| VAR_009395 | 415 | Y>F | No | UniProt | |
|
rs1555990715 CA409937853 |
419 | G>* | No |
ClinGen Ensembl |
|
|
CA409937868 rs1569396720 |
420 | T>A | No |
ClinGen Ensembl |
|
|
CA409937871 rs1330665947 |
420 | T>S | No |
ClinGen TOPMed |
|
|
rs778345859 CA10023954 |
421 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA409937893 rs778345859 |
421 | R>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000492917 rs1131691909 CA409937898 |
422 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10023956 rs575017348 |
423 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409937931 rs758520806 |
424 | H>P | No |
ClinGen gnomAD |
|
|
CA320464511 rs758520806 |
424 | H>R | No |
ClinGen gnomAD |
|
|
rs931761326 CA320464509 |
424 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs777063595 CA10023957 |
425 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748516503 CA10023958 |
426 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555990775 COSM1030617 CA409937994 |
428 | G>* | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs770275081 CA10023959 |
429 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409938020 rs1555990785 |
430 | E>* | No |
ClinGen Ensembl |
|
|
rs1555990798 CA409938053 |
432 | G>* | No |
ClinGen Ensembl |
|
|
CA409938105 rs1601316032 |
435 | G>D | No |
ClinGen Ensembl |
|
|
rs1050612683 CA320464542 |
437 | R>Q | No |
ClinGen Ensembl |
|
|
COSM1566067 CA10023962 rs766592662 |
438 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1555990848 CA409938173 |
441 | E>* | No |
ClinGen Ensembl |
|
|
CA320464548 rs867627265 |
444 | H>L | No |
ClinGen Ensembl |
|
|
RCV000656289 rs1555990855 |
445 | T>missing | No |
ClinVar dbSNP |
|
|
CA409938245 rs1402576985 |
447 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409938300 rs1555990876 |
450 | L>* | No |
ClinGen Ensembl |
|
|
CA409938309 rs1555990880 |
451 | K>* | No |
ClinGen Ensembl |
|
|
rs1555990891 CA409938332 |
453 | K>* | No |
ClinGen Ensembl |
|
|
CA409938365 RCV000503740 rs1268200083 |
456 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV001009064 rs1601316350 |
458 | R>missing | No |
ClinVar dbSNP |
|
|
CA320464600 rs944371260 |
459 | M>V | No |
ClinGen TOPMed |
|
|
rs886041993 RCV000316356 |
460 | L>missing | No |
ClinVar dbSNP |
|
|
CA409938401 rs1215143624 |
461 | D>Y | No |
ClinGen gnomAD |
|
|
rs1131691661 RCV000493767 |
462 | Y>missing | No |
ClinVar dbSNP |
|
|
rs1289218228 CA409938421 |
463 | D>E | No |
ClinGen TOPMed |
|
|
CA10023970 rs756860738 |
464 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171198534 CA409938429 |
465 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1171198534 CA409938428 |
465 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA409938427 rs1171198534 |
465 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 466 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409938444 rs1263156590 |
468 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA409938460 rs1349638793 |
470 | P>A | No |
ClinGen TOPMed |
|
|
rs781611536 CA10023974 |
471 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1475278294 CA409938473 |
472 | Y>H | No |
ClinGen gnomAD |
|
|
CA409938487 rs138276270 |
474 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA409938492 rs1555990984 |
475 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 478 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376538690 CA320464667 |
478 | F>S | No |
ClinGen ESP |
|
|
CA409938531 rs1555991007 |
480 | K>* | No |
ClinGen Ensembl |
|
|
CA409938539 rs1555991014 |
481 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 484 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409938567 rs1555991027 |
485 | E>* | No |
ClinGen Ensembl |
|
|
rs1064796713 RCV000482944 |
491 | N>missing | No |
ClinVar dbSNP |
|
|
RCV000523186 CA409938607 rs1555991038 |
491 | N>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1399540497 CA409938623 |
493 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1429991264 CA409938631 |
494 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1429991264 CA409938632 |
494 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 494 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773667681 CA10023977 |
494 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA409938639 rs1416442067 |
495 | T>I | No |
ClinGen gnomAD |
|
|
rs774504682 CA10023980 |
498 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA409938663 rs1159364045 |
499 | M>T | No |
ClinGen TOPMed |
|
|
CA409938670 rs1555991083 |
500 | E>* | No |
ClinGen Ensembl |
|
|
CA409938678 rs1555991092 |
501 | Q>* | No |
ClinGen Ensembl |
|
|
CA409938692 rs1555991097 |
503 | Q>* | No |
ClinGen Ensembl |
|
|
CA409938707 rs759594322 |
505 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs759594322 CA10023981 |
505 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1283442794 CA409938716 |
507 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409938752 rs1555991126 |
512 | S>* | No |
ClinGen Ensembl |
|
|
rs746997359 CA10023985 |
514 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 515 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 516 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149178520 CA320465086 |
516 | G>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA409938803 rs556482236 |
519 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10024000 rs768521457 |
520 | G>E | No |
ClinGen ExAC |
|
|
rs1180732528 CA409938821 |
522 | S>N | No |
ClinGen gnomAD |
|
|
CA10024003 rs765046647 |
523 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs750087915 CA10024004 |
524 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555991356 CA409938845 |
526 | R>* | No |
ClinGen Ensembl |
|
|
CA10024007 rs144436209 |
527 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10024006 rs765842769 |
527 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs146570372 CA10024008 |
528 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA409938862 rs1381541764 |
529 | S>* | No |
ClinGen gnomAD |
|
|
CA409938863 rs1381541764 |
529 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409938865 rs1440750899 |
530 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1458251657 CA409938885 |
533 | H>Y | No |
ClinGen gnomAD |
|
|
rs1555991435 CA409938893 |
534 | Q>* | No |
ClinGen Ensembl |
|
|
rs780009759 CA10024015 |
536 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA320465170 rs759950381 |
537 | H>R | No |
ClinGen Ensembl |
|
|
CA409938919 rs1188013027 |
538 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1369910931 CA409938921 |
538 | S>N | No |
ClinGen gnomAD |
|
|
CA409938962 rs1466764487 |
544 | A>D | No |
ClinGen gnomAD |
|
|
rs188293397 CA10024019 |
545 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409938971 rs762519059 |
546 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313971457 CA409938989 |
549 | M>V | No |
ClinGen gnomAD |
|
|
rs766002484 CA10024023 |
551 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270094743 CA409939013 |
552 | E>* | No |
ClinGen gnomAD |
|
|
rs1270094743 CA409939011 |
552 | E>K | No |
ClinGen gnomAD |
|
|
CA10024026 rs767104700 |
553 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261272756 CA409939031 |
554 | H>L | No |
ClinGen gnomAD |
|
|
CA409939033 rs1461039855 |
554 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1201240176 CA409939038 |
555 | S>I | No |
ClinGen gnomAD |
|
|
CA409939043 rs1299947324 |
556 | P>H | No |
ClinGen TOPMed |
|
|
CA409939045 rs1299947324 |
556 | P>L | No |
ClinGen TOPMed |
|
|
CA409939046 rs1131692019 |
557 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA320469567 rs992193845 |
558 | V>M | No |
ClinGen TOPMed |
|
|
CA10024075 COSM280681 rs757222616 |
559 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs144190333 CA10024076 |
559 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409939260 rs1555994475 |
560 | Q>* | No |
ClinGen Ensembl |
|
|
CA409939267 rs1555994487 |
561 | Q>* | No |
ClinGen Ensembl |
|
|
rs745713557 CA10024077 |
562 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771988298 CA409939306 |
565 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771988298 CA10024078 |
565 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453245604 CA409939322 |
567 | G>D | No |
ClinGen gnomAD |
|
|
CA409939333 rs1555994529 |
568 | W>* | No |
ClinGen Ensembl |
|
|
rs1555994521 CA409939330 |
568 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 569 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10024079 rs779796575 |
571 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746617310 CA409939356 |
571 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10024080 rs746617310 |
571 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409939360 rs1555994551 |
572 | E>* | No |
ClinGen Ensembl |
|
|
CA10024081 rs768231661 |
574 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA320469602 rs768231661 |
574 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA409939386 rs1555994573 |
576 | Q>* | No |
ClinGen Ensembl |
|
|
rs935909096 CA320469639 |
579 | V>I | No |
ClinGen Ensembl |
|
|
CA409939409 rs1555994609 |
580 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 580 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2053762752 RCV001194245 |
581 | T>P | No |
ClinVar dbSNP |
|
|
rs759964869 CA10024086 |
582 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA409939423 rs1293311020 |
582 | H>Y | No |
ClinGen gnomAD |
|
|
CA409939429 rs767840456 |
583 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10024087 rs767840456 |
583 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA409939440 rs554083440 |
585 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA320469647 rs554083440 |
585 | Q>K | No |
ClinGen 1000Genomes |
|
|
CA409939447 rs1555994654 |
586 | E>* | No |
ClinGen Ensembl |
|
|
rs368101780 CA10024088 |
587 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149948846 CA409939459 |
588 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1054783293 CA320469657 |
592 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA409939492 rs1237319453 |
593 | P>S | No |
ClinGen gnomAD |
|
|
CA409939497 rs753795563 |
594 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10024091 rs753795563 |
594 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555994701 CA409939505 |
595 | Q>* | No |
ClinGen Ensembl |
|
|
rs888944340 CA320469669 |
595 | Q>H | No |
ClinGen Ensembl |
|
|
CA409939511 rs1569405188 |
596 | N>D | No |
ClinGen Ensembl |
|
|
CA409939534 rs1477748111 |
599 | H>R | No |
ClinGen gnomAD |
|
|
CA409939543 rs1263036686 |
600 | H>L | No |
ClinGen TOPMed |
|
|
CA409939546 rs1240334378 |
601 | H>N | No |
ClinGen TOPMed |
|
|
rs758314164 CA10024096 |
602 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319573285 CA409939564 |
603 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746702578 CA10024097 |
604 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs367596694 CA10024098 |
606 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769293997 CA10024108 |
610 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10024107 rs747716400 |
610 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774882544 CA10024110 |
612 | H>Y | No |
ClinGen ExAC |
|
|
rs1569405356 RCV000762041 |
616 | H>missing | No |
ClinVar dbSNP |
|
|
rs1212700979 CA409939671 |
617 | H>L | No |
ClinGen gnomAD |
|
|
CA10024115 rs764279727 |
618 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409939683 rs1429521906 |
619 | H>Y | No |
ClinGen TOPMed |
|
|
rs754084352 CA409939685 |
619 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs754084352 CA10024116 |
619 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA409939690 rs1555994817 |
620 | G>* | No |
ClinGen Ensembl |
|
|
CA409939693 rs1265487026 |
620 | G>E | No |
ClinGen gnomAD |
|
|
CA409939696 rs1555994828 |
621 | Q>* | No |
ClinGen Ensembl |
|
|
CA409939704 rs1555994836 |
622 | Q>* | No |
ClinGen Ensembl |
|
|
CA320469785 rs902409542 |
623 | A>V | No |
ClinGen TOPMed |
|
|
rs1555994868 CA409939716 |
624 | L>* | No |
ClinGen Ensembl |
|
|
CA10024119 rs750405447 |
624 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA409939727 rs1450268494 |
626 | N>H | No |
ClinGen TOPMed |
|
|
CA10024120 rs758367401 |
627 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10024122 rs375722345 |
630 | P>S | No |
ClinGen ESP ExAC |
|
|
CA409939773 COSM444442 rs147650865 |
633 | Y>C | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA409939771 rs1264214416 |
633 | Y>N | No |
ClinGen TOPMed |
|
|
rs780778253 CA10024124 |
634 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA10024126 rs755674782 |
637 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10024127 rs755674782 |
637 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775938240 CA10024130 |
638 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409939817 rs1231286549 |
640 | S>F | No |
ClinGen TOPMed |
|
|
CA409939831 rs747396557 |
643 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10024131 rs747396557 |
643 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA409939853 rs1353409115 |
646 | M>V | No |
ClinGen gnomAD |
|
|
CA409939862 rs1555994979 |
647 | E>* | No |
ClinGen Ensembl |
|
|
rs1218036976 CA409939867 |
647 | E>D | No |
ClinGen gnomAD |
|
|
rs201421931 CA10024133 |
648 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1382769090 CA409939885 |
650 | H>Q | No |
ClinGen TOPMed |
|
|
rs762073913 CA10024134 |
652 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 655 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10024135 rs765435219 |
655 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10024139 rs751513164 |
662 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 663 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767325939 CA10024141 |
665 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA409940036 rs1555995028 |
666 | S>* | No |
ClinGen Ensembl |
|
|
rs113448106 CA320469871 |
669 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 671 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 671 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10024145 rs748740712 |
672 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA409940169 rs1308036522 |
675 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA409940181 rs148423267 |
676 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10024147 rs148423267 |
676 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10024149 rs55720916 |
679 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA320469890 rs267606123 |
679 | A>V | No |
ClinGen Ensembl |
|
|
rs1555995130 CA409940236 RCV000657796 |
680 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1019836603 CA320469898 |
680 | Y>H | No |
ClinGen TOPMed |
|
|
rs1555995137 CA409940245 |
681 | Q>* | No |
ClinGen Ensembl |
|
| VAR_009396 | 681 | Q>H | No | UniProt | |
|
rs1601335825 CA409940292 RCV000907917 |
683 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA409940306 rs1453374930 |
684 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1453374930 CA409940304 |
684 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10024151 rs770080987 |
684 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA320469902 rs961574903 |
686 | A>T | No |
ClinGen TOPMed |
|
|
CA409940355 rs1196786126 |
688 | N>D | No |
ClinGen gnomAD |
|
|
CA409940391 rs1555995220 |
690 | L>* | No |
ClinGen Ensembl |
|
|
CA10024152 rs773551586 |
691 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA320469914 rs372126654 |
692 | F>I | No |
ClinGen ESP |
|
|
CA409940453 rs1555995259 |
693 | G>* | No |
ClinGen Ensembl |
|
|
CA409940457 rs1383152057 |
694 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1383152057 CA409940458 |
694 | Q>E | No |
ClinGen gnomAD |
|
|
CA10024155 rs774207930 |
695 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409940509 rs1555995315 |
696 | G>* | No |
ClinGen Ensembl |
|
|
rs540559440 CA10024158 |
700 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555995329 CA409940684 |
702 | L>* | No |
ClinGen Ensembl |
|
|
rs756765804 CA409940767 |
705 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA409940764 rs756765804 |
705 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA10024164 rs752037724 |
707 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs910495553 CA320469980 |
708 | P>H | No |
ClinGen TOPMed |
|
|
rs755442210 CA409940830 |
708 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755442210 CA10024165 |
708 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555995374 CA409940887 |
710 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555995380 CA409940922 |
711 | E>* | No |
ClinGen Ensembl |
|
|
CA10024169 rs554691724 |
714 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 715 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409941017 rs1555995394 |
716 | G>* | No |
ClinGen Ensembl |
|
|
rs770942592 CA10024171 |
717 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 720 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555995428 CA409941162 |
721 | Q>* | No |
ClinGen Ensembl |
|
|
rs572876706 CA320470037 |
723 | S>C | No |
ClinGen Ensembl |
|
|
CA409941284 rs1401007472 |
725 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10024176 rs760500571 |
727 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA320470076 rs929033742 |
732 | M>V | No |
ClinGen Ensembl |
|
|
rs1555995489 CA409941500 |
734 | E>* | No |
ClinGen Ensembl |
|
|
rs1336965967 CA409941534 |
735 | G>* | No |
ClinGen TOPMed |
|
|
rs1398691994 CA409941538 |
735 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA409941528 rs1336965967 |
735 | G>R | No |
ClinGen TOPMed |
|
|
rs1318669151 CA409941575 |
736 | H>Q | No |
ClinGen gnomAD |
|
|
RCV000486329 rs1064795305 |
738 | T>missing | No |
ClinVar dbSNP |
|
|
CA409941634 rs1344521136 |
739 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764653772 CA10024179 |
739 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555995568 CA409941665 |
741 | Q>* | No |
ClinGen Ensembl |
|
|
CA10024180 rs749887051 |
742 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409941719 rs1413667922 |
743 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 743 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409941782 rs1555995586 |
745 | R>* | No |
ClinGen Ensembl |
|
|
CA409941806 rs1487304397 |
746 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1487304397 CA409941803 |
746 | E>K | No |
ClinGen gnomAD |
|
|
TCGA novel rs1555995598 CA409941823 |
747 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs887440216 CA320470119 |
748 | S>Y | No |
ClinGen Ensembl |
|
|
rs147973077 CA409941897 |
751 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555995630 CA409941915 |
752 | G>* | No |
ClinGen Ensembl |
|
|
CA10024186 rs749508662 |
753 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555995637 CA409941942 |
754 | C>* | No |
ClinGen Ensembl |
|
|
rs1555995640 CA409941970 |
756 | Q>* | No |
ClinGen Ensembl |
|
|
CA409941984 rs1555995649 |
757 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 759 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409942138 rs771118827 |
763 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409942144 rs771118827 |
763 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q13627
9 regional properties for Q13627
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Armadillo | 112 - 196 | IPR000225-1 |
| repeat | Armadillo | 197 - 239 | IPR000225-2 |
| repeat | Armadillo | 242 - 281 | IPR000225-3 |
| repeat | Armadillo | 283 - 323 | IPR000225-4 |
| repeat | Armadillo | 325 - 367 | IPR000225-5 |
| repeat | Armadillo | 367 - 407 | IPR000225-6 |
| repeat | Armadillo | 410 - 450 | IPR000225-7 |
| domain | Importin-alpha, importin-beta-binding domain | 1 - 102 | IPR002652 |
| repeat | Atypical Arm repeat | 464 - 513 | IPR032413 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.23 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| 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. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
17 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cytoskeletal protein binding | Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
| histone kinase activity (H3-T45 specific) | Catalysis of the transfer of a phosphate group to the threonine-45 residue of histone H3. |
| identical protein binding | Binding to an identical protein or proteins. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein. |
| 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 self-association | Binding to a domain within the same polypeptide. |
| 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. |
| RNA polymerase II CTD heptapeptide repeat kinase activity | Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (YSPTSPS) = ADP + H+ + phosphorylated RNA polymerase II. |
| tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
| tau-protein kinase activity | Catalysis of the reaction: ATP + tau-protein = ADP + O-phospho-tau-protein. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| tubulin binding | Binding to monomeric or multimeric forms of tubulin, including microtubules. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| amyloid-beta formation | The generation of amyloid-beta by cleavage of the amyloid precursor protein (APP). |
| circadian rhythm | Any biological process in an organism that recurs with a regularity of approximately 24 hours. |
| negative regulation of DNA damage response, signal transduction by p53 class mediator | Any process that stops, prevents, or reduces the frequency, rate or extent of the cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage. |
| negative regulation of DNA methylation-dependent heterochromatin assembly | Any process that decreases the rate, frequency, or extent of DNA methylation-dependent heterochromatin formation. |
| negative regulation of microtubule polymerization | Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule polymerization. |
| negative regulation of mRNA splicing, via spliceosome | Any process that stops, prevents or reduces the rate or extent of mRNA splicing via a spliceosomal mechanism. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| peptidyl-serine autophosphorylation | The phosphorylation by a protein of one or more of its own serine amino acid residues, or a serine residue on an identical protein. |
| 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. |
| peptidyl-tyrosine autophosphorylation | The phosphorylation by a protein of one or more of its own tyrosine amino acid residues, or a tyrosine residue on an identical protein. |
| peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of protein deacetylation | Any process that increases the rate, frequency, or extent of protein deacetylation, the removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic |
| positive regulation of RNA splicing | Any process that activates or increases the frequency, rate or extent of RNA splicing. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| 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 |
| Q9NR20 | DYRK4 | Dual specificity tyrosine-phosphorylation-regulated kinase 4 | Homo sapiens (Human) | PR |
| Q8BI55 | Dyrk4 | Dual specificity tyrosine-phosphorylation-regulated kinase 4 | Mus musculus (Mouse) | PR |
| Q3V016 | Hipk4 | Homeodomain-interacting protein kinase 4 | Mus musculus (Mouse) | PR |
| Q9QZR5 | Hipk2 | Homeodomain-interacting protein kinase 2 | Mus musculus (Mouse) | SS |
| Q61214 | Dyrk1a | Dual specificity tyrosine-phosphorylation-regulated kinase 1A | Mus musculus (Mouse) | PR |
| Q4V793 | Hipk4 | Homeodomain-interacting protein kinase 4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHTGGETSAC | KPSSVRLAPS | FSFHAAGLQM | AGQMPHSHQY | SDRRQPNISD | QQVSALSYSD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QIQQPLTNQV | MPDIVMLQRR | MPQTFRDPAT | APLRKLSVDL | IKTYKHINEV | YYAKKKRRHQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QGQGDDSSHK | KERKVYNDGY | DDDNYDYIVK | NGEKWMDRYE | IDSLIGKGSF | GQVVKAYDRV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EQEWVAIKII | KNKKAFLNQA | QIEVRLLELM | NKHDTEMKYY | IVHLKRHFMF | RNHLCLVFEM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSYNLYDLLR | NTNFRGVSLN | LTRKFAQQMC | TALLFLATPE | LSIIHCDLKP | ENILLCNPKR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SAIKIVDFGS | SCQLGQRIYQ | YIQSRFYRSP | EVLLGMPYDL | AIDMWSLGCI | LVEMHTGEPL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FSGANEVDQM | NKIVEVLGIP | PAHILDQAPK | ARKFFEKLPD | GTWNLKKTKD | GKREYKPPGT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RKLHNILGVE | TGGPGGRRAG | ESGHTVADYL | KFKDLILRML | DYDPKTRIQP | YYALQHSFFK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KTADEGTNTS | NSVSTSPAME | QSQSSGTTSS | TSSSSGGSSG | TSNSGRARSD | PTHQHRHSGG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HFTAAVQAMD | CETHSPQVRQ | QFPAPLGWSG | TEAPTQVTVE | THPVQETTFH | VAPQQNALHH |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HHGNSSHHHH | HHHHHHHHHG | QQALGNRTRP | RVYNSPTNSS | STQDSMEVGH | SHHSMTSLSS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| STTSSSTSSS | STGNQGNQAY | QNRPVAANTL | DFGQNGAMDV | NLTVYSNPRQ | ETGIAGHPTY |
| 730 | 740 | 750 | 760 | ||
| QFSANTGPAH | YMTEGHLTMR | QGADREESPM | TGVCVQQSPV | ASS |