Q08345
EV
Gene name |
DDR1 (CAK, EDDR1, NEP, NTRK4, PTK3A, RTK6, TRKE) |
Protein name |
Epithelial discoidin domain-containing receptor 1 |
Names |
Epithelial discoidin domain receptor 1, CD167 antigen-like family member A, Cell adhesion kinase, Discoidin receptor tyrosine kinase, HGK2, Mammary carcinoma kinase 10, MCK-10, Protein-tyrosine kinase 3A, Protein-tyrosine kinase RTK-6, TRK E, Tyrosine kinase DDR, Tyrosine-protein kinase CAK, CD antigen CD167a |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:780 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416) |
Descriptions
Discoidin domain receptor 1 (DDR1) is a collagen-activated receptor tyrosine kinase with important functions in organogenesis and tissue homeostasis. The autoinhibition of DDR kinase activity is released by a two-step. First, phosphorylation of JM4 (kinase-proximal segment) tyrosines likely ejects JM4 from the cleft between the kinase N- and C-lobes, resulting in low activity similar to that of an inactive kinase alone where the A-loop still blocks the active site. In the second step, phosphorylation of the A-loop frees up the active site, resulting in a fully active kinase. Interestingly, the glycosylation at the Asn211 position could help to maintain the autoinhibitory state during the trafficking of the receptor to the cell surface by imposing steric or electrostatic effects that translate into downstream conformations.
Autoinhibitory domains (AIDs)
Target domain |
610-905 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Structural analysis |
Accessory elements
783-808 (Activation loop from InterPro)
Target domain |
610-905 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Sammon D et al. (2020) "Two-step release of kinase autoinhibition in discoidin domain receptor 1", Proceedings of the National Academy of Sciences of the United States of America, 117, 22051-22060
- Fu HL et al. (2014) "Glycosylation at Asn211 regulates the activation state of the discoidin domain receptor 1 (DDR1)", The Journal of biological chemistry, 289, 9275-87
Autoinhibited structure
Activated structure
35 structures for Q08345
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3ZOS | X-ray | 192 A | A/B | 601-913 | PDB |
| 4AG4 | X-ray | 280 A | A | 29-367 | PDB |
| 4BKJ | X-ray | 170 A | A/B | 601-913 | PDB |
| 4CKR | X-ray | 220 A | A | 601-913 | PDB |
| 5BVK | X-ray | 229 A | A | 595-913 | PDB |
| 5BVN | X-ray | 221 A | A | 595-913 | PDB |
| 5BVO | X-ray | 198 A | A | 595-913 | PDB |
| 5BVW | X-ray | 194 A | A | 595-913 | PDB |
| 5FDP | X-ray | 225 A | A | 601-913 | PDB |
| 5FDX | X-ray | 265 A | A/B | 601-913 | PDB |
| 5SAU | X-ray | 180 A | A | 593-913 | PDB |
| 5SAV | X-ray | 176 A | A | 593-913 | PDB |
| 5SAW | X-ray | 160 A | A | 593-913 | PDB |
| 5SAX | X-ray | 190 A | A | 593-913 | PDB |
| 5SAY | X-ray | 219 A | A/B | 593-913 | PDB |
| 5SAZ | X-ray | 180 A | A | 593-913 | PDB |
| 5SB0 | X-ray | 197 A | A | 593-913 | PDB |
| 5SB1 | X-ray | 153 A | A | 593-913 | PDB |
| 5SB2 | X-ray | 160 A | A | 593-913 | PDB |
| 6BRJ | X-ray | 223 A | A | 1-913 | PDB |
| 6BSD | X-ray | 261 A | A | 1-913 | PDB |
| 6FEW | X-ray | 144 A | A | 593-913 | PDB |
| 6FEX | X-ray | 129 A | A | 593-913 | PDB |
| 6FIL | X-ray | 173 A | A | 593-913 | PDB |
| 6FIN | X-ray | 167 A | A | 593-913 | PDB |
| 6FIO | X-ray | 199 A | A | 593-913 | PDB |
| 6FIQ | X-ray | 179 A | A | 593-913 | PDB |
| 6GWR | X-ray | 207 A | A/B | 601-913 | PDB |
| 6HP9 | X-ray | 196 A | A/B | 601-913 | PDB |
| 6Y23 | X-ray | 258 A | A/B/C | 566-913 | PDB |
| 7BCM | X-ray | 230 A | A/B | 601-913 | PDB |
| 7BE6 | X-ray | 187 A | A | 601-913 | PDB |
| 7FEH | X-ray | 161 A | A | 593-913 | PDB |
| 8PE9 | X-ray | 315 A | A | 188-370 | PDB |
| AF-Q08345-F1 | Predicted | AlphaFoldDB |
718 variants for Q08345
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3704163 rs773677525 |
3 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164031866 CA363116521 |
4 | E>G | No |
gnomAD ClinGen |
|
|
CA363116561 rs1225801001 |
5 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA3704165 rs771030187 |
8 | S>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1277199422 CA363116693 |
9 | L>S | No |
ClinGen gnomAD |
|
|
rs1217223547 CA363116862 |
14 | L>S | No |
gnomAD ClinGen |
|
|
CA363116878 rs1438877781 |
15 | V>A | No |
gnomAD ClinGen |
|
|
rs759692507 CA3704167 |
15 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs55901302 CA136777669 |
17 | S>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs55901302 VAR_041492 CA3704168 RCV000905928 |
17 | S>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
|
rs1375776252 CA363116922 |
17 | S>N | No |
gnomAD ClinGen |
|
|
CA363116985 rs1486726894 |
19 | D>N | No |
gnomAD ClinGen |
|
|
rs751380468 CA3704169 |
22 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136777679 rs939257198 |
25 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761641414 CA3704170 |
26 | F>V | No |
ExAC ClinGen |
|
|
CA136777784 rs949384536 |
29 | A>V | No |
ClinGen gnomAD |
|
|
CA363117498 rs1487415827 |
30 | K>R | No |
ClinGen gnomAD |
|
|
CA3704182 rs747520345 |
32 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1477583730 CA363117565 |
32 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1215929514 CA363117645 |
37 | M>V | No |
TOPMed ClinGen |
|
|
CA3704183 rs771371317 |
38 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363117667 rs771371317 |
38 | Q>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs770533788 CA136777796 |
40 | R>Q | No |
ClinGen TOPMed |
|
|
rs1001393100 CA136777795 |
40 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs1157505229 CA363117790 |
42 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
CA3704185 rs759659255 |
43 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs1285681224 CA363117896 |
45 | S>N | No |
ClinGen TOPMed |
|
|
CA3704187 rs540880521 |
47 | I>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA3704188 rs763222754 |
50 | S>A | No |
ExAC gnomAD ClinGen |
|
|
rs1034567265 CA136777815 |
52 | S>F | No |
Ensembl ClinGen |
|
|
rs1301827645 CA363118202 |
59 | A>P | No |
gnomAD ClinGen |
|
|
CA3704190 rs373564993 |
60 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3704191 rs141798548 |
60 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs770421290 CA3704193 |
61 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770421290 CA3704192 |
61 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363118449 rs1248330314 |
63 | R>S | No |
ClinGen gnomAD |
|
|
rs1332974768 CA363118517 |
65 | E>* | No |
TOPMed gnomAD ClinGen |
|
|
rs1456626374 CA363118527 |
65 | E>G | No |
TOPMed ClinGen |
|
|
rs964623615 CA136777967 |
66 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1471491450 CA363118559 |
66 | S>N | No |
TOPMed ClinGen |
|
|
rs1367429191 CA363118652 |
69 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
CA136777986 rs920057612 |
69 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs768938091 CA3704206 |
71 | G>R | No |
ExAC ClinGen |
|
|
CA136777995 rs931416958 |
71 | G>V | No |
Ensembl ClinGen |
|
|
CA3704209 rs766265850 |
76 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs370616104 CA3704210 |
78 | S>L | No |
ESP ExAC gnomAD ClinGen |
|
|
CA3704212 rs764833803 |
79 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA363118988 rs1340020261 |
81 | P>H | No |
gnomAD ClinGen |
|
|
rs752090782 CA3704213 |
84 | E>K | No |
ExAC ClinGen |
|
|
rs1562375482 CA363119237 |
87 | L>F | No |
Ensembl ClinGen |
|
|
rs1329076319 CA363119325 |
90 | D>G | No |
TOPMed ClinGen |
|
|
rs758105369 CA363119415 |
93 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3704216 rs763733867 |
93 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049621 CA3704217 |
94 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs781365987 CA3704219 |
95 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
CA363119499 rs1200710305 CA363119500 |
97 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
rs34544756 VAR_041493 CA3704221 |
100 | V>A | No |
ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs34544756 CA363119581 |
100 | V>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136778103 rs1038728618 |
102 | T>I | No |
TOPMed ClinGen |
|
|
CA363119616 rs1418125200 |
102 | T>S | No |
gnomAD ClinGen |
|
|
rs780192186 CA3704222 |
104 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs749362174 CA3704223 |
105 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1371743404 CA363119742 |
107 | A>T | No |
ClinGen gnomAD |
|
|
rs866750164 CA136778119 |
107 | A>V | No |
ClinGen Ensembl |
|
|
CA363119774 rs1401518399 |
108 | G>E | No |
gnomAD ClinGen |
|
|
CA3704225 rs774681658 |
108 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs746851215 CA3704226 |
109 | G>D | No |
ExAC gnomAD ClinGen |
|
|
CA363119820 rs1356360510 |
111 | G>D | No |
gnomAD ClinGen |
|
|
rs570679100 CA3704228 |
116 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142628047 CA3704227 |
116 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1187077021 CA363119965 |
117 | S>G | No |
TOPMed ClinGen |
|
|
rs556218004 CA136778170 |
119 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556218004 CA3704230 |
119 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539581039 CA3704229 |
119 | R>W | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1017104226 CA136778176 |
120 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
CA363120038 rs1345029513 |
121 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs775046204 CA3704231 |
121 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762416383 CA3704232 |
123 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA136778223 rs1011399192 |
124 | R>P | No |
TOPMed ClinGen |
|
|
rs1011399192 CA363120102 |
124 | R>Q | No |
TOPMed ClinGen |
|
|
CA3704233 rs763783004 |
124 | R>W | No |
ClinGen ExAC |
|
|
CA3704234 rs576077309 |
126 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363120156 rs1260074565 |
127 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs372871218 CA3704235 |
127 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs372871218 CA3704236 |
127 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs756705374 CA3704238 |
128 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM185200 rs981246535 COSM185199 CA136778246 |
128 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1348857222 CA363120233 |
130 | M>V | No |
ClinGen TOPMed |
|
|
rs1413393258 CA363120293 |
132 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1562376866 CA363120317 |
133 | K>E | No |
ClinGen Ensembl |
|
|
rs1419319558 CA363120359 |
134 | D>E | No |
gnomAD ClinGen |
|
|
rs112048001 CA3704240 |
135 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA136778258 rs902915281 |
135 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3704241 rs754013800 |
137 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA363121636 rs1439991778 |
141 | I>V | No |
gnomAD ClinGen |
|
|
CA3704265 rs139811882 |
146 | D>A | No |
ESP ExAC gnomAD ClinGen |
|
|
CA3704266 rs758712984 |
146 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA363121849 rs1460672067 |
148 | E>D | No |
TOPMed ClinGen |
|
|
CA3704267 rs777826215 |
148 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363121923 rs1291071880 |
152 | L>M | No |
ClinGen gnomAD |
|
|
CA3704268 rs745723181 |
152 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs936816885 CA363121986 |
155 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA136779484 rs936816885 |
155 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs144609719 CA136779500 CA3704269 |
156 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363122049 rs1437728449 |
157 | P>H | No |
TOPMed gnomAD ClinGen |
|
|
rs1437728449 CA363122051 |
157 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA3704272 rs749224278 |
158 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs1373441970 CA363122063 |
158 | P>T | No |
gnomAD ClinGen |
|
|
rs1234661291 CA363122076 |
159 | M>V | No |
gnomAD ClinGen |
|
|
rs1481008695 CA363122135 |
160 | V>I | No |
gnomAD ClinGen |
|
|
rs768519318 CA3704273 |
161 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs773912777 CA3704274 |
161 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA363122181 rs1476038301 |
162 | R>* | No |
TOPMed gnomAD ClinGen |
|
|
rs761229007 CA3704275 |
162 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs745485473 CA136779573 |
165 | R>H | No |
Ensembl ClinGen |
|
|
CA363122357 rs1354553761 |
168 | P>R | No |
gnomAD ClinGen |
|
|
rs1011484740 CA136779585 |
168 | P>S | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 169 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs55980643 CA3704278 VAR_041494 |
169 | R>Q | No |
ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs1022417101 CA136779590 |
169 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA136779611 VAR_041495 rs56231803 |
170 | A>D | No |
Ensembl ClinGen UniProt dbSNP |
|
|
rs754189500 CA3704280 |
172 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3704279 rs141547665 |
172 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs765835603 CA3704282 |
175 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA363122524 rs1049622 |
175 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3704284 rs758384854 |
176 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363122553 rs1443827585 |
178 | L>M | No |
TOPMed ClinGen |
|
|
CA3704286 rs751759098 |
179 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363122583 rs1278351120 |
181 | E>* | No |
gnomAD ClinGen |
|
|
CA136779639 rs1004790110 |
183 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
rs757401499 CA3704287 |
185 | C>W | No |
ExAC gnomAD ClinGen |
|
|
CA3704288 rs746554342 |
186 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704289 rs749065685 |
187 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761853768 CA3704323 |
189 | D>G | No |
ClinGen ExAC |
|
|
CA3704325 rs750667920 |
195 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752481620 CA3704328 |
196 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136780080 rs557271556 |
196 | A>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA3704327 rs557271556 |
196 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
rs758325270 CA3704329 |
197 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA363122954 CA136780105 rs567397063 |
198 | V>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3704330 rs567397063 |
198 | V>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs748701365 CA136780116 |
199 | G>A | No |
Ensembl ClinGen |
|
|
rs890443670 CA136780124 |
202 | M>I | No |
TOPMed ClinGen |
|
|
CA3704331 rs751162524 |
202 | M>V | No |
ExAC gnomAD ClinGen |
|
|
rs143357711 CA3704332 |
203 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3704334 rs745517365 |
208 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs749656490 CA3704337 |
212 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs1459360099 CA363123217 |
214 | T>I | No |
TOPMed ClinGen |
|
|
rs1562383900 CA363123228 |
215 | Y>C | No |
Ensembl ClinGen |
|
| TCGA novel | 217 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307088481 CA363123259 |
217 | G>R | No |
ClinGen gnomAD |
|
|
CA363124883 rs1346015563 |
219 | T>I | No |
TOPMed ClinGen |
|
|
CA3704342 COSM1661409 rs536438914 COSM1661408 |
220 | V>M | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs773211020 | 221 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704344 rs760902924 |
222 | G>R | No |
ExAC gnomAD ClinGen |
|
|
rs779721373 CA3704365 |
225 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749667998 CA3704366 |
226 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136780995 rs976223150 |
227 | G>S | No |
ClinGen Ensembl |
|
|
rs1284627527 CA363125484 COSM741436 |
227 | G>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
TOPMed ClinGen cosmic curated NCI-TCGA |
|
rs1483756327 CA363125631 |
230 | Q>R | No |
ClinGen gnomAD |
|
|
CA136780997 rs923393856 |
233 | D>G | No |
Ensembl ClinGen |
|
|
COSM1443132 CA363125766 COSM42930 rs1204897362 |
234 | G>D | large_intestine central_nervous_system [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
rs932025804 CA136781008 |
236 | V>G | No |
ClinGen gnomAD |
|
|
rs748661249 CA3704369 |
236 | V>M | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 238 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363125916 rs1441052622 |
239 | D>G | No |
gnomAD ClinGen |
|
| TCGA novel | 240 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136781016 rs1014058654 |
241 | F>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1354968659 CA363126050 |
242 | R>K | No |
ClinGen TOPMed |
|
|
CA363126088 rs1394499954 |
243 | K>M | No |
gnomAD ClinGen |
|
|
CA363126184 rs1288775734 |
245 | Q>H | No |
TOPMed ClinGen |
|
|
CA3704370 rs144675593 |
247 | L>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363126269 rs112944019 |
248 | R>L | No |
TOPMed gnomAD ClinGen |
|
|
CA136781033 rs112944019 |
248 | R>P | No |
TOPMed gnomAD ClinGen |
|
|
CA136781019 rs112944019 |
248 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363126266 rs1582056677 |
248 | R>W | No |
Ensembl ClinGen |
|
|
rs1359986879 CA363126314 |
249 | V>F | No |
gnomAD ClinGen |
|
|
rs1453377102 CA363126371 |
250 | W>C | No |
gnomAD ClinGen |
|
|
rs773340268 CA3704371 |
251 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs199613179 CA3704372 |
251 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363126491 rs1397961484 |
253 | Y>S | No |
TOPMed ClinGen |
|
|
rs776932854 CA3704374 |
254 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759637254 CA3704375 |
255 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA136781064 rs958344160 |
258 | W>* | No |
TOPMed gnomAD ClinGen |
|
|
CA363126757 rs112508523 |
259 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363126805 rs1301422373 |
261 | H>D | No |
gnomAD ClinGen |
|
|
rs1329592902 CA363126926 |
264 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs767554165 CA3704379 |
265 | S>I | No |
ExAC gnomAD ClinGen |
|
|
rs1029223661 CA136781108 |
269 | E>K | No |
TOPMed ClinGen |
|
|
CA3704380 rs749990473 |
270 | M>T | No |
ExAC gnomAD ClinGen |
|
|
CA3704381 rs200285468 |
272 | F>L | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363127395 rs1161576206 |
275 | D>H | No |
ClinGen TOPMed |
|
|
CA3704383 rs765090409 |
276 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3704382 rs765761360 |
276 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754524042 CA3704384 |
278 | R>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779264306 CA3704385 |
279 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779264306 CA363127512 |
279 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1157270498 CA363127574 |
282 | A>V | No |
gnomAD ClinGen |
|
|
rs1194022233 CA363127597 |
283 | M>I | No |
TOPMed ClinGen |
|
|
rs748501405 CA3704386 |
283 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363127625 rs1562387467 |
284 | Q>H | No |
Ensembl ClinGen |
|
|
rs1255805203 CA363127848 |
286 | H>Y | No |
TOPMed gnomAD ClinGen |
|
|
rs915795209 CA136781345 |
287 | C>Y | No |
ClinGen TOPMed |
|
|
CA363127938 rs1562388029 |
289 | N>H | No |
Ensembl ClinGen |
|
|
rs145529481 CA136781356 |
290 | M>L | No |
ESP TOPMed ClinGen |
|
|
CA363128017 rs1219441900 |
291 | H>D | No |
ClinGen TOPMed |
|
|
CA3704411 rs376283924 |
292 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC gnomAD ClinGen NCI-TCGA |
|
CA136781367 rs1045538065 |
293 | L>P | No |
TOPMed ClinGen |
|
|
CA363128099 rs1483503419 |
293 | L>V | No |
ClinGen gnomAD |
|
|
rs1187579104 CA363128133 |
294 | G>* | No |
gnomAD ClinGen |
|
|
COSM94124 CA3704413 rs780397649 |
296 | R>C | breast [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
COSM3697735 rs749476480 COSM3697736 CA3704414 |
296 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA363128260 rs1418732962 |
299 | G>D | No |
ClinGen gnomAD |
|
|
rs149505705 CA3704417 |
300 | G>E | No |
ESP ExAC gnomAD ClinGen |
|
|
CA3704416 rs138102816 |
300 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363128300 rs149505705 |
300 | G>V | No |
ESP ExAC gnomAD ClinGen |
|
|
CA363128307 rs1310708059 |
301 | V>L | No |
gnomAD ClinGen |
|
|
rs759016307 CA3704420 |
303 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs552001172 CA3704421 |
304 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752376259 CA3704422 |
304 | R>H | No |
ExAC gnomAD ClinGen |
|
|
rs370442643 CA3704424 |
306 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs56024191 VAR_041496 CA3704423 |
306 | R>W | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA363128451 rs1210359448 |
307 | R>C | No |
gnomAD ClinGen |
|
|
CA3704426 rs139594548 |
307 | R>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA363128446 rs1210359448 |
307 | R>S | Variant assessed as Somatic; 6.587e-05 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs781517445 CA3704427 |
308 | G>A | No |
ExAC gnomAD ClinGen |
|
|
rs751228784 CA136781444 |
309 | P>L | No |
gnomAD ClinGen |
|
|
rs779635308 CA136781435 |
309 | P>S | No |
ClinGen gnomAD |
|
|
rs750560629 CA3704428 |
312 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs996498204 CA136781458 |
313 | W>* | No |
TOPMed gnomAD ClinGen |
|
|
rs766303615 CA3704429 |
313 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 314 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363128640 rs756281099 |
314 | E>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363128666 rs1562388782 |
316 | E>K | No |
Ensembl ClinGen |
|
|
CA363128765 rs1426803524 |
317 | P>R | No |
gnomAD ClinGen |
|
|
rs780244606 CA3704432 |
318 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3704433 rs148743250 |
319 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 319 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323147916 CA363128906 |
323 | G>R | No |
gnomAD ClinGen |
|
|
CA363128962 rs1273201020 |
325 | N>I | No |
TOPMed gnomAD ClinGen |
|
|
CA363128992 rs1199682251 |
326 | L>P | No |
ClinGen TOPMed |
|
|
CA363129008 rs1295077270 |
327 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs770941243 CA3704437 |
328 | D>A | No |
ExAC gnomAD ClinGen |
|
|
rs1463386505 CA363129064 |
329 | P>L | No |
gnomAD ClinGen |
|
|
rs1355819453 CA363129052 |
329 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704438 rs776412348 |
331 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs575782309 CA3704440 |
332 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759421254 COSM1443138 COSM1443137 CA3704439 |
332 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1478145010 CA363129143 |
333 | A>T | No |
gnomAD ClinGen |
|
| TCGA novel | 335 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157651197 CA363129206 |
336 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
CA363129204 rs1157651197 |
336 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
rs1161936936 CA363129257 |
338 | L>F | No |
ClinGen gnomAD |
|
|
rs763648977 CA3704444 |
340 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751989944 CA3704445 |
341 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704446 rs762059088 |
341 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363129376 rs1482000105 |
343 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780774872 CA3704447 |
343 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs962151061 CA136781618 |
344 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs1268571599 CA363129406 |
344 | R>H | Variant assessed as Somatic; 5.053e-05 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3704448 rs751001498 |
345 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA3704449 COSM1249870 COSM1249871 rs756626283 |
348 | C>S | oesophagus [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA3704450 rs780299497 |
349 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704451 rs370116223 |
349 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363129543 rs1230839597 |
351 | L>R | No |
ClinGen gnomAD |
|
|
rs748561326 CA3704452 |
353 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs374390420 CA3704454 |
355 | P>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs374390420 CA3704453 |
355 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363129719 rs1161994283 |
358 | L>I | No |
ClinGen gnomAD |
|
|
rs147485952 CA3704456 COSM1077458 |
361 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA3704457 rs143367160 |
365 | I>F | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs971383731 CA136782254 |
367 | D>E | No |
TOPMed ClinGen |
|
|
rs1226690227 CA363130159 |
368 | V>G | No |
gnomAD ClinGen |
|
|
CA363130146 rs1340955863 |
368 | V>L | No |
gnomAD ClinGen |
|
|
CA3704475 rs758586403 |
370 | N>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704474 rs752895954 |
370 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201573522 CA3704476 |
371 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3704478 rs200571528 |
374 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704479 rs200571528 |
374 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs375127720 CA3704483 |
375 | A>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363130378 rs1451441823 |
376 | L>P | No |
gnomAD ClinGen |
|
| TCGA novel | 379 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704484 rs371183562 |
381 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1416694443 CA363130527 |
383 | A>P | No |
TOPMed ClinGen |
|
|
rs773782485 CA3704486 |
383 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402725114 CA363130552 |
384 | P>R | No |
ClinGen gnomAD |
|
|
rs376202372 CA3704487 |
384 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363130585 rs1318470647 |
385 | W>* | No |
ClinGen gnomAD |
|
|
rs765319320 CA136782328 |
385 | W>S | No |
Ensembl ClinGen |
|
|
rs151111058 CA3704489 |
387 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1281654800 CA363130728 |
391 | P>L | No |
gnomAD ClinGen |
|
|
rs149673892 CA136782337 COSM107278 |
392 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1235032956 CA363130802 |
394 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA363130814 rs1414066624 |
395 | F>L | No |
TOPMed ClinGen |
|
| TCGA novel | 399 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766177606 CA3704516 |
400 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA136782564 rs1052211846 |
404 | G>D | No |
TOPMed ClinGen |
|
|
CA363131199 rs1223838435 |
405 | Q>H | No |
ClinGen gnomAD |
|
|
rs752199108 CA3704520 |
408 | V>E | No |
ExAC gnomAD ClinGen |
|
|
CA136782580 rs778882518 |
408 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704519 rs778882518 |
408 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363131261 rs1215743530 |
409 | A>T | No |
TOPMed ClinGen |
|
|
rs758005462 CA3704521 |
411 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs575792004 CA136782645 |
412 | E>K | No |
ClinGen gnomAD |
|
|
CA3704523 rs746665157 |
415 | P>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs770692392 CA3704524 |
415 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1427353775 CA363131410 |
416 | T>A | No |
gnomAD ClinGen |
|
|
CA3704526 rs746211945 |
416 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA363131423 rs1443417219 |
417 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1302687182 CA363131487 |
419 | L>P | No |
gnomAD ClinGen |
|
|
rs1230600672 CA363131522 |
421 | G>S | No |
ClinGen gnomAD |
|
|
rs1375473763 CA363131661 |
427 | I>V | No |
TOPMed ClinGen |
|
|
rs1277060177 CA363131680 |
428 | L>M | No |
gnomAD ClinGen |
|
|
CA3704530 rs768724096 |
429 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA363131772 rs1431257956 |
433 | I>F | No |
TOPMed gnomAD ClinGen |
|
|
rs372114087 CA3704531 |
434 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1456770418 CA363131834 |
436 | L>R | No |
TOPMed ClinGen |
|
|
CA363131840 rs1196652173 |
437 | M>V | No |
TOPMed ClinGen |
|
|
rs1484184385 CA363131883 |
439 | W>G | No |
gnomAD ClinGen |
|
|
rs1016470960 CA136782725 |
440 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM3410922 CA3704532 rs762082578 COSM3410923 |
440 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA363131930 rs1390383141 |
441 | L>Q | No |
gnomAD ClinGen |
|
|
CA363131968 rs1413596641 |
442 | H>Q | No |
gnomAD ClinGen |
|
| TCGA novel | 442 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333919534 CA363131986 |
443 | W>C | No |
gnomAD ClinGen |
|
|
rs767725360 CA3704533 |
444 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA3704534 rs149823598 |
444 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs759356928 CA3704535 |
445 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136782745 rs1002869977 |
446 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
CA363132068 rs1582071240 |
448 | S>G | No |
Ensembl ClinGen |
|
|
rs764090751 CA3704558 |
452 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1437953800 CA363133260 |
452 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs1248071152 CA363133318 |
456 | E>G | No |
TOPMed gnomAD ClinGen |
|
|
CA363133326 rs1478173567 |
457 | E>K | No |
gnomAD ClinGen |
|
|
CA3704561 rs527334105 |
460 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363133388 rs1334804764 |
461 | V>A | No |
TOPMed ClinGen |
|
|
CA363133380 rs1162003260 |
461 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs750091349 CA3704562 |
463 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA363133426 rs1562396918 |
464 | S>C | No |
ClinGen Ensembl |
|
|
rs375924272 CA3704563 |
466 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC gnomAD ClinGen NCI-TCGA |
|
rs145788270 CA3704565 |
468 | D>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs145788270 CA3704566 |
468 | D>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363133485 rs1287475479 |
469 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
rs950410539 CA136784680 |
470 | I>V | No |
Ensembl ClinGen |
|
|
CA363133566 rs1348414326 |
475 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3704568 rs748609770 |
475 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363133576 rs1280099868 |
476 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
rs1280099868 CA363133577 |
476 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
CA363133662 rs772224863 |
480 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA136784688 rs983498853 |
480 | E>G | No |
gnomAD ClinGen |
|
|
CA136784702 rs199740590 |
483 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes gnomAD ClinGen NCI-TCGA |
|
rs1562397308 CA363133717 |
484 | Y>N | No |
Ensembl ClinGen |
|
| TCGA novel | 485 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704572 rs771047020 |
486 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA363133778 rs1184910466 |
487 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1471831373 CA363133775 |
487 | P>S | No |
gnomAD ClinGen |
|
|
CA3704574 rs762818236 COSM1249874 COSM1249873 |
488 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs775463181 CA3704573 |
488 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs539377393 CA3704575 |
490 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3704576 rs368547620 |
490 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3704577 rs368547620 |
490 | R>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3704580 rs552885133 |
493 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| VAR_041497 | 496 | S>A | a lung squamous cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA3704582 rs754253512 |
496 | S>Y | No |
ExAC gnomAD ClinGen |
|
|
rs779209128 CA3704584 |
497 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753207870 CA3704585 |
497 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs979274463 CA136784886 |
499 | C>R | No |
TOPMed ClinGen |
|
|
CA3704586 rs758774858 |
499 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
rs144638340 CA3704587 |
501 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3704588 rs55787895 |
502 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3704589 rs771231629 |
503 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs374931528 CA3704611 |
505 | A>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3704613 rs772098203 |
507 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1465680463 CA363134286 |
508 | L>F | No |
ClinGen TOPMed |
|
|
CA363134306 rs1476094522 |
509 | S>P | No |
ClinGen gnomAD |
|
|
rs200617695 CA3704616 |
510 | N>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs200617695 CA3704615 |
510 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA136785621 rs868583999 |
511 | P>L | No |
Ensembl ClinGen |
|
|
rs770432973 CA3704617 |
511 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA136785626 rs60626023 |
513 | Y>H | No |
ClinGen 1000Genomes |
|
|
COSM86295 CA3704618 rs140223039 |
514 | R>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA136785635 rs199975727 |
514 | R>H | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs759245439 CA363134492 |
517 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539458320 CA3704621 |
518 | A>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1562399832 CA363134541 |
519 | T>I | No |
Ensembl ClinGen |
|
|
CA566319587 rs1208663972 |
520 | Y>* | No |
gnomAD ClinGen |
|
|
CA363134564 rs1039650854 |
520 | Y>* | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 520 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704622 rs775970782 |
521 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704623 rs199902191 |
521 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA3704624 rs764479302 |
522 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM252466 CA3704625 rs145280414 |
522 | R>H | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA363134612 rs757720595 |
523 | P>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs767760510 CA3704627 |
523 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs757720595 CA3704626 |
523 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs757720595 CA363134609 |
523 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363134638 rs921859872 |
524 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs921859872 CA136785728 |
524 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3704628 rs750525973 COSM1443143 |
525 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA363134648 rs750525973 |
525 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363134656 rs1453883354 |
525 | R>Q | No |
gnomAD ClinGen |
|
|
rs371350624 CA3704629 |
526 | G>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs201876615 CA3704630 |
527 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363134716 rs1430808895 |
528 | G>A | No |
Ensembl ClinGen |
|
|
CA363134744 rs1316235173 |
529 | P>R | No |
gnomAD ClinGen |
|
|
rs1191934234 CA363134760 |
530 | P>S | No |
ClinGen TOPMed |
|
|
CA3704634 rs758159533 |
531 | T>A | No |
ExAC gnomAD ClinGen |
|
| rs771816717 | 531 | T>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704635 rs150168130 |
531 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3704636 rs150168130 |
531 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3704637 rs770845960 |
532 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs138565451 CA3704638 |
533 | A>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs138565451 CA363134820 |
533 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1482623572 CA363134934 |
538 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
rs769242940 CA3704640 |
540 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA3704641 rs775032942 |
541 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
rs1205823016 CA363135013 |
541 | Q>R | No |
TOPMed ClinGen |
|
|
rs1302766990 CA363136217 |
544 | S>G | No |
TOPMed ClinGen |
|
|
CA363136226 rs1274772183 |
545 | G>A | No |
gnomAD ClinGen |
|
|
CA3704670 rs765469806 |
545 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA3704672 rs373459260 |
546 | D>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 546 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704671 rs751407937 |
546 | D>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs376529212 CA3704673 |
547 | Y>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA136786879 rs928516967 |
548 | M>T | No |
Ensembl ClinGen |
|
|
CA363136243 rs1399126179 |
548 | M>V | No |
TOPMed ClinGen |
|
|
rs867195699 CA136786880 |
549 | E>Q | No |
Ensembl ClinGen |
|
|
CA363136257 rs1170991180 |
550 | P>S | No |
ClinGen TOPMed |
|
|
CA363136277 rs1465744342 |
552 | K>N | No |
ClinGen TOPMed |
|
|
rs1000742491 CA136786886 |
553 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs779496426 CA3704676 |
555 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA3704677 rs748799640 |
555 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs147476733 CA3704678 |
556 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3704679 rs140012475 |
557 | L>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs747764393 CA3704680 |
558 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1428841165 CA363136309 |
559 | P>S | No |
gnomAD ClinGen |
|
| TCGA novel | 560 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272168036 CA363136318 |
560 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA363136321 rs1362972477 |
561 | P>S | No |
gnomAD ClinGen |
|
|
CA363136327 rs1281215514 |
562 | P>S | No |
gnomAD ClinGen |
|
|
CA363136338 rs1325571558 |
563 | Q>H | No |
gnomAD ClinGen |
|
|
CA3704682 rs773655346 |
565 | S>N | No |
ExAC gnomAD ClinGen |
|
|
rs370113205 CA3704684 |
566 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA363136354 rs370113205 |
566 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759641096 CA3704686 |
568 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs752917703 CA3704688 |
571 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA363136408 rs1387935811 |
574 | I>V | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 575 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704689 rs763100627 |
577 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA363136438 rs1332614687 |
578 | Q>H | No |
TOPMed ClinGen |
|
|
CA3704692 rs756044614 |
580 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs753668090 CA3704694 |
582 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA363136469 rs1455671088 |
584 | N>D | No |
TOPMed ClinGen |
|
|
CA363136475 rs1411355691 |
584 | N>S | No |
TOPMed ClinGen |
|
|
CA363136485 rs1471120297 |
585 | T>N | No |
ClinGen TOPMed |
|
|
rs1224005622 CA363136498 |
586 | Y>C | No |
gnomAD ClinGen |
|
|
rs1477399572 CA363136513 |
587 | A>G | No |
gnomAD ClinGen |
|
|
rs1287677792 CA363136518 |
588 | V>M | No |
gnomAD ClinGen |
|
|
CA3704695 rs754549769 |
589 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1224937930 CA363136548 |
590 | A>V | No |
ClinGen gnomAD |
|
|
rs747817280 CA363136578 |
593 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747817280 CA3704697 |
593 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363136574 rs1219800977 |
593 | P>S | No |
gnomAD ClinGen |
|
|
CA136787045 rs974297420 |
595 | A>E | No |
TOPMed gnomAD ClinGen |
|
|
CA363136621 rs1469112734 |
597 | G>E | No |
gnomAD ClinGen |
|
|
rs938158049 CA136787054 |
597 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1206473613 CA363136653 |
599 | G>E | No |
TOPMed ClinGen |
|
|
rs747349990 CA363136660 |
600 | P>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs747349990 CA3704700 |
600 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs747349990 CA363136662 |
600 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363136674 rs1301559706 |
601 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 602 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704702 rs142435078 |
606 | P>L | No |
ESP ExAC gnomAD ClinGen |
|
|
COSM139634 CA363136761 COSM139635 rs1405305923 |
606 | P>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA136787086 rs1055137436 |
607 | R>* | No |
TOPMed ClinGen |
|
|
COSM1077467 rs140296720 CA136787095 COSM107808 |
607 | R>Q | endometrium skin Variant assessed as Somatic; 4.849e-05 impact. [Cosmic, NCI-TCGA] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1444367361 CA363136792 |
609 | R>G | No |
ClinGen gnomAD |
|
|
CA136787116 rs527938479 |
609 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527938479 CA3704703 |
609 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs374807652 CA3704704 |
611 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs775530906 CA3704705 |
611 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA136787122 rs1016079167 |
612 | F>V | No |
ClinGen Ensembl |
|
|
CA363136912 rs1223682481 |
616 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 617 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184611367 CA363136953 |
618 | E>D | No |
gnomAD ClinGen |
|
|
rs764269995 CA3704707 |
618 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA3704709 rs773039359 |
621 | F>S | No |
ExAC gnomAD ClinGen |
|
|
CA3704708 rs773039359 |
621 | F>Y | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 624 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704724 rs749348180 |
625 | H>R | No |
ExAC gnomAD ClinGen |
|
|
CA3704725 rs768672608 |
626 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs774586111 CA3704726 |
627 | C>G | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 628 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704730 rs776276689 |
630 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704729 rs776276689 |
630 | D>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363137225 rs1168318951 |
631 | S>G | No |
gnomAD ClinGen |
|
|
CA3704731 rs150908231 |
635 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA136787427 rs761318267 |
636 | V>A | No |
Ensembl ClinGen |
|
|
CA363137419 rs1390381078 |
641 | P>H | No |
TOPMed ClinGen |
|
|
rs1338059585 CA363137455 |
643 | N>I | No |
gnomAD ClinGen |
|
|
rs1406176405 CA363137463 |
643 | N>K | No |
gnomAD ClinGen |
|
|
rs1433848479 CA363137487 |
645 | R>C | No |
ClinGen gnomAD |
|
|
rs758007556 CA3704733 |
645 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758007556 CA363137494 |
645 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55927245 CA136787464 |
646 | K>N | No |
Ensembl ClinGen |
|
|
CA3704735 rs751234929 |
646 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA363137551 rs756843811 CA3704736 |
648 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1271211178 CA363137537 |
648 | H>Y | No |
gnomAD ClinGen |
|
|
CA363137675 rs1490654922 |
656 | I>T | No |
TOPMed ClinGen |
|
|
rs780560727 CA363137710 |
658 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3704742 rs146690652 |
658 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs780560727 CA3704741 |
658 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004778137 CA136787518 |
659 | P>L | No |
Ensembl ClinGen |
|
|
rs888647499 CA136787512 |
659 | P>S | No |
Ensembl ClinGen |
|
|
CA3704744 rs778802269 |
660 | D>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs200569741 CA3704743 |
660 | D>N | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1274345007 CA363137753 |
661 | A>T | No |
TOPMed ClinGen |
|
|
CA363137776 rs772179437 |
662 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA3704746 rs772179437 |
662 | T>N | No |
ExAC gnomAD ClinGen |
|
|
CA3704747 rs776530832 |
663 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1306160081 CA363137807 |
664 | N>D | No |
TOPMed ClinGen |
|
|
CA363137822 rs1286653064 |
665 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1197524614 CA363138152 |
671 | K>R | No |
ClinGen gnomAD |
|
|
rs1296980295 CA363138195 |
673 | V>L | No |
gnomAD ClinGen |
|
|
rs750047186 CA3704774 |
676 | M>T | No |
ExAC gnomAD ClinGen |
|
|
rs760261368 CA3704775 |
677 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248464806 CA363138350 |
679 | L>F | No |
ClinGen gnomAD |
|
|
rs1292153143 CA363138401 |
681 | D>Y | No |
gnomAD ClinGen |
|
|
rs541302814 CA3704778 |
682 | P>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs777845365 CA3704782 |
685 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1362569420 CA363138500 |
685 | I>V | No |
ClinGen TOPMed |
|
|
rs144868912 CA3704785 |
686 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363138530 rs144868912 |
686 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs747290299 CA3704783 |
686 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 688 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149035593 CA3704787 |
690 | V>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363138620 rs1426996136 |
691 | C>R | No |
TOPMed ClinGen |
|
|
CA363138734 rs1336098307 |
695 | D>E | No |
gnomAD ClinGen |
|
|
rs201560945 CA136787850 |
695 | D>N | No |
gnomAD ClinGen |
|
|
rs771494535 CA3704790 |
699 | M>I | No |
ExAC gnomAD ClinGen |
|
|
rs748049405 CA3704789 |
699 | M>V | No |
ExAC gnomAD ClinGen |
|
|
CA363138828 rs1429147117 |
700 | I>L | No |
ClinGen TOPMed |
|
|
rs1285030187 CA363138836 |
700 | I>T | No |
gnomAD ClinGen |
|
|
rs1263960735 CA363138844 |
701 | T>A | No |
TOPMed ClinGen |
|
|
rs918064748 CA136787855 |
703 | Y>H | No |
TOPMed ClinGen |
|
|
CA363138965 rs1307942347 |
707 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1339857025 CA363138979 |
708 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs759843893 CA3704795 |
710 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704797 rs549382721 |
712 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1308690613 CA363139170 |
715 | A>V | No |
TOPMed ClinGen |
|
|
rs1484728398 CA363139190 |
716 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3704798 rs758886410 |
720 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA3704801 rs757598763 |
724 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1398774053 CA363139462 |
725 | G>A | No |
gnomAD ClinGen |
|
|
CA363139514 rs1369120297 |
726 | A>G | No |
TOPMed ClinGen |
|
|
rs754734603 CA3704804 |
728 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs566058919 CA3704805 |
729 | D>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363139613 rs772751955 |
730 | G>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs772751955 CA3704808 |
730 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs772043111 CA363139595 CA3704807 |
730 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs746500566 CA3704809 |
732 | A>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363139665 rs1325633313 |
733 | A>T | No |
gnomAD ClinGen |
|
|
COSM1077475 COSM1077473 rs1219302418 CA363139675 |
733 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1335013933 CA363139773 |
738 | I>F | No |
gnomAD ClinGen |
|
|
rs1328129352 CA363140724 |
739 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA136788374 rs200575128 |
740 | Y>C | No |
1000Genomes ClinGen |
|
|
CA3704833 rs775762857 |
741 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769099381 CA3704835 |
742 | M>K | No |
ExAC gnomAD ClinGen |
|
|
CA136788405 rs779052880 |
742 | M>V | No |
TOPMed gnomAD ClinGen |
|
|
rs775002417 CA3704836 |
745 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775002417 CA363140816 |
745 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA136788415 rs1029044314 |
747 | A>T | No |
ClinGen TOPMed |
|
|
rs1358930731 CA363140859 |
748 | A>G | No |
ClinGen gnomAD |
|
|
CA3704837 rs762349900 |
748 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3704839 rs146993618 |
749 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363140896 rs201248998 |
750 | I>M | No |
TOPMed gnomAD ClinGen |
|
|
CA136788468 rs138387851 |
751 | A>T | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs766602083 CA3704841 |
753 | G>S | No |
ExAC TOPMed ClinGen |
|
|
CA3704842 rs753959680 |
753 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363140948 rs1476777181 |
754 | M>K | No |
TOPMed ClinGen |
|
|
CA363140962 rs1444166268 |
755 | R>C | No |
ClinGen gnomAD |
|
|
CA3704843 rs370297461 |
755 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363140972 rs370297461 |
755 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs777480526 CA3704844 |
756 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 760 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757177405 CA3704846 |
760 | L>V | No |
ExAC gnomAD ClinGen |
|
|
CA363141049 rs1437446502 |
761 | N>S | No |
TOPMed ClinGen |
|
|
CA3704847 CA3704848 rs561305840 |
762 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704849 rs769133980 |
764 | H>R | No |
ExAC gnomAD ClinGen |
|
|
CA3704850 rs373740847 |
765 | R>Q | No |
ESP ExAC gnomAD ClinGen |
|
|
COSM1186990 rs1404757200 CA363141095 COSM1186991 |
765 | R>W | lung [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
CA363141175 rs1316690686 |
769 | T>M | No |
TOPMed gnomAD ClinGen |
|
|
rs774843112 CA3704853 |
770 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM266357 CA3704852 COSM266358 rs368543890 |
770 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ESP ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 774 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221010043 CA363141385 |
775 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762476392 CA3704855 |
780 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1460947128 CA363141596 |
780 | I>M | No |
ClinGen gnomAD |
|
|
rs762476392 CA3704854 |
780 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704856 rs368874569 |
782 | I>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs531908040 CA3704859 |
783 | A>P | No |
ExAC gnomAD ClinGen |
|
|
CA3704858 rs531908040 |
783 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs1293045259 CA363141775 |
787 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
rs551753356 CA3704862 |
789 | R>Q | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs763938597 CA3704861 |
789 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 792 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777882153 CA136788605 |
792 | Y>C | No |
gnomAD ClinGen |
|
|
rs543159624 CA3704864 |
792 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
TCGA novel CA363141924 rs1467745639 |
794 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA363141965 rs1338207497 |
795 | D>E | No |
gnomAD ClinGen |
|
|
rs1354733767 CA363141984 |
796 | Y>C | No |
TOPMed ClinGen |
|
|
CA136788620 rs1035288810 |
798 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1330507537 CA363142046 |
798 | R>L | No |
TOPMed ClinGen |
|
|
CA3704866 rs750285936 |
802 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704865 rs767507877 |
802 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363142115 rs1325081370 |
803 | A>T | No |
gnomAD ClinGen |
|
|
rs755651121 CA3704867 |
808 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1045387235 CA136788625 |
808 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
CA363142195 rs1582111382 |
810 | M>V | No |
Ensembl ClinGen |
|
|
rs1175823786 CA363142216 |
811 | A>V | No |
ClinGen TOPMed |
|
|
CA363142228 rs1323503276 |
812 | W>* | No |
gnomAD ClinGen |
|
|
CA363142288 rs1221762546 |
816 | L>R | No |
gnomAD ClinGen |
|
|
CA136788641 rs916783286 |
817 | M>T | No |
gnomAD ClinGen |
|
|
CA363142291 rs1345893701 |
817 | M>V | No |
gnomAD ClinGen |
|
|
CA3704892 rs758796585 |
818 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs1019421123 CA136789037 |
820 | F>L | No |
TOPMed ClinGen |
|
|
rs150642742 CA3704893 |
821 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363142544 rs368093405 |
823 | A>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363142548 rs368093405 |
823 | A>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs368093405 CA3704894 |
823 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs771341445 CA363142623 CA363142624 |
826 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs771341445 CA3704895 |
826 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs181600077 CA3704896 |
828 | A>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3704897 rs181600077 |
828 | A>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA363142725 rs1241155869 |
829 | F>V | No |
TOPMed gnomAD ClinGen |
|
|
CA363142792 rs1235830172 |
831 | V>L | No |
TOPMed ClinGen |
|
|
rs1286738469 CA363142821 |
832 | T>S | No |
gnomAD ClinGen |
|
|
CA136789098 VAR_049716 rs2524235 |
833 | L>V | No |
Ensembl ClinGen UniProt dbSNP |
|
|
rs991312762 CA363143018 |
836 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
rs991312762 CA136789101 |
836 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
CA363143045 rs1379479627 |
837 | L>V | No |
TOPMed ClinGen |
|
|
CA136789109 rs971615124 |
838 | M>I | No |
TOPMed ClinGen |
|
|
CA136789103 rs915758708 |
838 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1193559823 CA363143177 |
842 | A>T | No |
ClinGen gnomAD |
|
|
CA3704901 rs771959037 |
847 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA136789122 rs976566969 |
848 | L>F | No |
gnomAD ClinGen |
|
|
CA3704902 rs772877167 |
849 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA363143403 rs1167429962 |
849 | T>I | No |
gnomAD ClinGen |
|
|
rs149355839 CA136789140 |
850 | D>E | No |
ESP ExAC TOPMed ClinGen |
|
|
rs934376869 CA136789143 |
851 | E>* | No |
ClinGen TOPMed |
|
|
CA363143465 rs1461930931 |
851 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs934376869 CA363143446 |
851 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1302010670 CA363143511 |
852 | Q>L | No |
gnomAD ClinGen |
|
|
rs1182408861 CA363143561 |
854 | I>M | No |
TOPMed ClinGen |
|
|
rs760143598 CA3704905 |
855 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363143663 rs764775490 |
857 | A>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1447733299 CA363143639 |
857 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA3704907 COSM43060 rs764775490 |
857 | A>V | central_nervous_system Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1260501118 CA363143704 |
859 | E>Q | No |
TOPMed ClinGen |
|
|
rs1313237033 CA363143792 COSM1568438 COSM1568439 |
861 | F>L | large_intestine [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
CA363143789 rs1229818412 |
861 | F>S | No |
gnomAD ClinGen |
|
|
CA363143820 rs757977513 |
862 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363143844 rs778269601 |
862 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704910 rs778269601 |
862 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs757977513 CA3704909 |
862 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1582117112 CA363143914 |
864 | Q>E | No |
Ensembl ClinGen |
|
|
rs139777106 CA136789211 |
864 | Q>R | No |
ESP gnomAD ClinGen |
|
|
CA363143962 rs1457801016 |
866 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
rs144391131 CA3704911 |
866 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363143958 rs1457801016 |
866 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA363144206 rs1478469223 |
868 | V>A | No |
gnomAD ClinGen |
|
|
CA363144201 rs1325749736 |
868 | V>L | No |
TOPMed ClinGen |
|
|
CA3704932 rs373175632 |
871 | S>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3704934 rs200189421 |
872 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3704935 rs200189421 |
872 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3704933 rs4711245 |
872 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM185201 CA3704936 rs779035359 |
873 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs904067195 CA136789405 |
873 | P>T | No |
Ensembl ClinGen |
|
|
rs1415586012 CA363144392 |
874 | P>L | No |
ClinGen TOPMed |
|
|
rs770864088 CA3704938 |
876 | C>R | No |
ExAC gnomAD ClinGen |
|
|
CA3704939 rs776556090 |
877 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1562415385 CA363144544 |
878 | Q>* | No |
Ensembl ClinGen |
|
|
CA363144645 rs1267224577 |
880 | L>P | No |
TOPMed ClinGen |
|
|
CA363144628 rs1478976035 |
880 | L>V | No |
TOPMed ClinGen |
|
|
CA3704942 rs775192640 |
881 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363144668 rs775192640 |
881 | Y>F | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 882 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3704943 rs762396225 |
885 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs1283082654 CA363144800 |
885 | L>R | No |
ClinGen gnomAD |
|
|
rs773885051 CA3704945 |
886 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs763588465 CA3704944 |
886 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1288623106 CA363144869 |
887 | C>W | No |
gnomAD ClinGen |
|
|
CA3704946 COSM239537 rs761510617 |
890 | R>Q | prostate [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA136789458 rs1030361707 |
890 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA363145052 rs1245009371 |
891 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs1191910036 CA363145072 |
892 | S>F | No |
gnomAD ClinGen |
|
|
rs1479028769 CA363145060 |
892 | S>P | No |
ClinGen gnomAD |
|
|
CA363145135 rs1407513054 |
895 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA363145148 rs767934466 |
895 | R>L | No |
ExAC gnomAD ClinGen |
|
|
CA3704947 rs767934466 |
895 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA363145188 rs1324863723 |
897 | P>H | No |
gnomAD ClinGen |
|
|
CA363145182 rs1220396640 |
897 | P>T | No |
TOPMed ClinGen |
|
|
rs1282383384 CA363145281 |
899 | S>A | No |
ClinGen TOPMed |
|
|
CA363145304 rs1360963848 |
900 | Q>* | No |
gnomAD ClinGen |
|
|
rs529844175 CA3704948 |
900 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs546341028 CA3704949 |
902 | H>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs754331448 CA3704951 |
903 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA3704950 rs766893592 |
903 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs755018033 CA3704952 |
905 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA363145535 rs1351229195 |
907 | E>G | No |
TOPMed ClinGen |
|
|
CA136789499 rs754092328 |
909 | A>V | No |
Ensembl ClinGen |
|
|
rs778994942 CA3704953 |
910 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3704955 rs758691978 |
911 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs373308255 CA3704957 |
912 | T>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1222315847 CA363145754 |
914 | V>C | No |
gnomAD ClinGen |
|
|
CA363145739 rs1453906227 |
914 | V>S | No |
gnomAD ClinGen |
No associated diseases with Q08345
4 regional properties for Q08345
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.1 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24416 | TYROSINE-PROTEIN KINASE RECEPTOR |
| PANTHER Subfamily | PTHR24416:SF333 | EPITHELIAL DISCOIDIN DOMAIN-CONTAINING RECEPTOR 1 |
| PANTHER Protein Class | transmembrane signal receptor | |
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| collagen binding | Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| metal ion binding | Binding to a metal ion. |
| protein tyrosine kinase collagen receptor activity | Combining with collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. |
| transmembrane receptor protein tyrosine kinase activity | Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| axon development | The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation). |
| branching involved in mammary gland duct morphogenesis | The process in which the branching structure of the mammary gland duct is generated and organized. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| collagen-activated tyrosine kinase receptor signaling pathway | The series of molecular signals initiated by collagen binding to its receptor on the surface of a target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| ear development | The process whose specific outcome is the progression of the ear over time, from its formation to the mature structure. The ear is the sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. |
| embryo implantation | Attachment of the blastocyst to the uterine lining. |
| lactation | The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. |
| mammary gland alveolus development | The progression of the mammary gland alveolus over time, from its formation to its mature state. The mammary gland alveolus is a sac-like structure that is found in the mature gland. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| neuron projection extension | Long distance growth of a single neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| 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. |
| positive regulation of kinase activity | Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| 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). |
| regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
| regulation of cell-matrix adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to the extracellular matrix. |
| regulation of extracellular matrix disassembly | Any process that modulates the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix. |
| smooth muscle cell migration | The orderly movement of a smooth muscle cell from one site to another, often during the development of a multicellular organism. |
| smooth muscle cell-matrix adhesion | The binding of a smooth muscle cell to the extracellular matrix via adhesion molecules. |
| transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| wound healing, spreading of cells | The migration of a cell along or through a wound gap that contributes to the reestablishment of a continuous surface. |
48 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5F3X2 | DDR1 | receptor protein-tyrosine kinase | Gallus gallus (Chicken) | SS |
| Q7YR43 | DDR1 | Epithelial discoidin domain-containing receptor 1 | Pan troglodytes (Chimpanzee) | SS |
| P07949 | RET | Proto-oncogene tyrosine-protein kinase receptor Ret | Homo sapiens (Human) | EV |
| O15146 | MUSK | Muscle, skeletal receptor tyrosine-protein kinase | Homo sapiens (Human) | EV |
| Q01974 | ROR2 | Tyrosine-protein kinase transmembrane receptor ROR2 | Homo sapiens (Human) | EV |
| Q01973 | ROR1 | Inactive tyrosine-protein kinase transmembrane receptor ROR1 | Homo sapiens (Human) | PR |
| Q16832 | DDR2 | Discoidin domain-containing receptor 2 | Homo sapiens (Human) | SS |
| Q16620 | NTRK2 | BDNF/NT-3 growth factors receptor | Homo sapiens (Human) | EV |
| P04629 | NTRK1 | High affinity nerve growth factor receptor | Homo sapiens (Human) | EV |
| Q16288 | NTRK3 | NT-3 growth factor receptor | Homo sapiens (Human) | SS |
| P35916 | FLT4 | Vascular endothelial growth factor receptor 3 | Homo sapiens (Human) | SS |
| P17948 | FLT1 | Vascular endothelial growth factor receptor 1 | Homo sapiens (Human) | SS |
| P35968 | KDR | Vascular endothelial growth factor receptor 2 | Homo sapiens (Human) | EV |
| P29317 | EPHA2 | Ephrin type-A receptor 2 | Homo sapiens (Human) | SS |
| P21709 | EPHA1 | Ephrin type-A receptor 1 | Homo sapiens (Human) | SS |
| P54760 | EPHB4 | Ephrin type-B receptor 4 | Homo sapiens (Human) | SS |
| P29376 | LTK | Leukocyte tyrosine kinase receptor | Homo sapiens (Human) | SS |
| Q9UM73 | ALK | ALK tyrosine kinase receptor | Homo sapiens (Human) | EV |
| P08922 | ROS1 | Proto-oncogene tyrosine-protein kinase ROS | Homo sapiens (Human) | SS |
| P14616 | INSRR | Insulin receptor-related protein | Homo sapiens (Human) | SS |
| P08069 | IGF1R | Insulin-like growth factor 1 receptor | Homo sapiens (Human) | EV |
| P06213 | INSR | Insulin receptor | Homo sapiens (Human) | EV |
| P11362 | FGFR1 | Fibroblast growth factor receptor 1 | Homo sapiens (Human) | EV |
| P21802 | FGFR2 | Fibroblast growth factor receptor 2 | Homo sapiens (Human) | EV |
| P22455 | FGFR4 | Fibroblast growth factor receptor 4 | Homo sapiens (Human) | SS |
| P22607 | FGFR3 | Fibroblast growth factor receptor 3 | Homo sapiens (Human) | EV |
| Q12866 | MERTK | Tyrosine-protein kinase Mer | Homo sapiens (Human) | EV |
| Q04912 | MST1R | Macrophage-stimulating protein receptor | Homo sapiens (Human) | EV |
| P30530 | AXL | Tyrosine-protein kinase receptor UFO | Homo sapiens (Human) | PR |
| Q06418 | TYRO3 | Tyrosine-protein kinase receptor TYRO3 | Homo sapiens (Human) | SS |
| P08581 | MET | Hepatocyte growth factor receptor | Homo sapiens (Human) | EV |
| P04626 | ERBB2 | Receptor tyrosine-protein kinase erbB-2 | Homo sapiens (Human) | SS |
| Q15303 | ERBB4 | Receptor tyrosine-protein kinase erbB-4 | Homo sapiens (Human) | SS |
| P21860 | ERBB3 | Receptor tyrosine-protein kinase erbB-3 | Homo sapiens (Human) | SS |
| P00533 | EGFR | Epidermal growth factor receptor | Homo sapiens (Human) | EV |
| P34925 | RYK | Tyrosine-protein kinase RYK | Homo sapiens (Human) | PR |
| Q02763 | TEK | Angiopoietin-1 receptor | Homo sapiens (Human) | SS |
| P35590 | TIE1 | Tyrosine-protein kinase receptor Tie-1 | Homo sapiens (Human) | PR |
| P10721 | KIT | Mast/stem cell growth factor receptor Kit | Homo sapiens (Human) | EV |
| P09619 | PDGFRB | Platelet-derived growth factor receptor beta | Homo sapiens (Human) | EV |
| P07333 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Homo sapiens (Human) | SS |
| P16234 | PDGFRA | Platelet-derived growth factor receptor alpha | Homo sapiens (Human) | EV |
| P36888 | FLT3 | Receptor-type tyrosine-protein kinase FLT3 | Homo sapiens (Human) | EV |
| Q62371 | Ddr2 | Discoidin domain-containing receptor 2 | Mus musculus (Mouse) | SS |
| Q03146 | Ddr1 | Epithelial discoidin domain-containing receptor 1 | Mus musculus (Mouse) | SS |
| Q63474 | Ddr1 | Epithelial discoidin domain-containing receptor 1 | Rattus norvegicus (Rat) | SS |
| Q95ZV7 | ddr-2 | Discoidin domain-containing receptor tyrosine kinase B | Caenorhabditis elegans | PR |
| E7F3X9 | ddr1 | receptor protein-tyrosine kinase | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGPEALSSLL | LLLLVASGDA | DMKGHFDPAK | CRYALGMQDR | TIPDSDISAS | SSWSDSTAAR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HSRLESSDGD | GAWCPAGSVF | PKEEEYLQVD | LQRLHLVALV | GTQGRHAGGL | GKEFSRSYRL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RYSRDGRRWM | GWKDRWGQEV | ISGNEDPEGV | VLKDLGPPMV | ARLVRFYPRA | DRVMSVCLRV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELYGCLWRDG | LLSYTAPVGQ | TMYLSEAVYL | NDSTYDGHTV | GGLQYGGLGQ | LADGVVGLDD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FRKSQELRVW | PGYDYVGWSN | HSFSSGYVEM | EFEFDRLRAF | QAMQVHCNNM | HTLGARLPGG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VECRFRRGPA | MAWEGEPMRH | NLGGNLGDPR | ARAVSVPLGG | RVARFLQCRF | LFAGPWLLFS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EISFISDVVN | NSSPALGGTF | PPAPWWPPGP | PPTNFSSLEL | EPRGQQPVAK | AEGSPTAILI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GCLVAIILLL | LLIIALMLWR | LHWRRLLSKA | ERRVLEEELT | VHLSVPGDTI | LINNRPGPRE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PPPYQEPRPR | GNPPHSAPCV | PNGSALLLSN | PAYRLLLATY | ARPPRGPGPP | TPAWAKPTNT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QAYSGDYMEP | EKPGAPLLPP | PPQNSVPHYA | EADIVTLQGV | TGGNTYAVPA | LPPGAVGDGP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PRVDFPRSRL | RFKEKLGEGQ | FGEVHLCEVD | SPQDLVSLDF | PLNVRKGHPL | LVAVKILRPD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ATKNARNDFL | KEVKIMSRLK | DPNIIRLLGV | CVQDDPLCMI | TDYMENGDLN | QFLSAHQLED |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KAAEGAPGDG | QAAQGPTISY | PMLLHVAAQI | ASGMRYLATL | NFVHRDLATR | NCLVGENFTI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KIADFGMSRN | LYAGDYYRVQ | GRAVLPIRWM | AWECILMGKF | TTASDVWAFG | VTLWEVLMLC |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RAQPFGQLTD | EQVIENAGEF | FRDQGRQVYL | SRPPACPQGL | YELMLRCWSR | ESEQRPPFSQ |
| 910 | |||||
| LHRFLAEDAL | NTV |