P54753
SS
Gene name |
EPHB3 (ETK2, HEK2, TYRO6) |
Protein name |
Ephrin type-B receptor 3 |
Names |
EC 2.7.10.1 , EPH-like tyrosine kinase 2 , EPH-like kinase 2 , Embryonic kinase 2 , EK2 , hEK2 , Tyrosine-protein kinase TYRO6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2049 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
|
Descriptions
Ephrin type-B receptor 2 is a membrane-associated protein that mediates axon guidance, cell migration and morphogenesis. The Eph receptor tyrosine kinase family is regulated by autophosphorylation within the juxtamembrane region and the kinase activation segment. The structure, supported by mutagenesis data, reveals that the juxtamembrane segment adopts a helical conformation that distorts the small lobe of the kinase domain, and blocks the activation segment from attaining an activated conformation. Phosphorylation of the conserved juxtamembrane tyrosines would relieve this autoinhibition by disturbing the association of the juxtamembrane segment with the kinase domain, while liberating phosphotyrosine sites for binding SH2 domains of target proteins.
Autoinhibitory domains (AIDs)
Target domain |
633-896 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
775-803 (Activation loop from InterPro)
Target domain |
633-896 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
Autoinhibited structure
Activated structure
5 structures for P54753
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3P1I | X-ray | 210 A | A/B/C | 39-211 | PDB |
| 3ZFY | X-ray | 220 A | A/B | 616-910 | PDB |
| 5L6O | X-ray | 188 A | A | 616-910 | PDB |
| 5L6P | X-ray | 226 A | A | 616-910 | PDB |
| AF-P54753-F1 | Predicted | AlphaFoldDB |
939 variants for P54753
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs2108432484 | 2 | A>V | No | Ensembl | |
| rs1714271478 | 3 | R>G | No | gnomAD | |
| rs1560050342 | 3 | R>K | No | gnomAD | |
| rs1467550827 | 3 | R>S | No |
TOPMed gnomAD |
|
| rs1164820191 | 5 | R>H | No |
TOPMed gnomAD |
|
| rs1164820191 | 5 | R>L | No |
TOPMed gnomAD |
|
| rs930603848 | 6 | P>L | No |
TOPMed gnomAD |
|
| rs1454392123 | 7 | P>L | No | TOPMed | |
| rs1400881855 | 8 | P>L | No |
1000Genomes gnomAD |
|
| rs1560050405 | 10 | P>S | No | Ensembl | |
| rs1324171275 | 11 | S>* | No |
TOPMed gnomAD |
|
| rs1324171275 | 11 | S>L | No |
TOPMed gnomAD |
|
| rs760420980 | 11 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs1337298955 | 11 | S>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1402465049 | 12 | P>L | No |
1000Genomes TOPMed gnomAD |
|
| rs1714274662 | 14 | P>A | No | TOPMed | |
| rs376974166 | 16 | L>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs376974166 | 16 | L>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1577518701 | 18 | P>Q | No | Ensembl | |
| rs1577518701 | 18 | P>R | No | Ensembl | |
| rs1490254791 | 21 | P>S | No | gnomAD | |
| rs1356133376 | 23 | L>V | No |
TOPMed gnomAD |
|
| rs2108432569 | 27 | P>R | No | Ensembl | |
| rs1429789406 | 28 | L>P | No | gnomAD | |
| rs1714276742 | 30 | L>V | No | Ensembl | |
| rs1363161312 | 33 | A>T | No | gnomAD | |
| rs1714277145 | 34 | G>D | No | Ensembl | |
| rs1385124373 | 34 | G>R | No |
TOPMed gnomAD |
|
| rs1385124373 | 34 | G>S | No |
TOPMed gnomAD |
|
| rs570761224 | 35 | C>W | No | gnomAD | |
| rs776518476 | 36 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs776518476 | 36 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1417292568 | 36 | R>W | No |
TOPMed gnomAD |
|
| rs1240594736 | 37 | A>G | No | TOPMed | |
| rs1714277458 | 37 | A>S | No | gnomAD | |
| rs1240594736 | 37 | A>V | No | TOPMed | |
| rs1293986744 | 38 | L>V | No |
TOPMed gnomAD |
|
| rs1220327412 | 39 | E>Q | No | Ensembl | |
| rs1714533458 | 40 | E>G | No | Ensembl | |
| rs1443864241 | 41 | T>N | No | gnomAD | |
| rs1714533775 | 44 | D>N | No | Ensembl | |
| rs1714533913 | 47 | W>G | No | TOPMed | |
| rs1415275697 | 49 | T>A | No |
TOPMed gnomAD |
|
| rs369718915 | 50 | S>T | No | gnomAD | |
|
COSM419676 rs1237986709 |
53 | A>E | urinary_tract [Cosmic] | No |
cosmic curated gnomAD |
| rs1456787514 | 53 | A>S | No |
TOPMed gnomAD |
|
| rs1237986709 | 53 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1467499500 | 55 | T>A | No | gnomAD | |
| rs183760285 | 55 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1467499500 | 55 | T>P | No | gnomAD | |
| COSM3590807 | 58 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200523648 | 60 | S>N | No |
1000Genomes ExAC gnomAD |
|
| rs1219793158 | 65 | V>M | No | gnomAD | |
| rs747856336 | 68 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs1171159383 | 69 | D>N | No |
TOPMed gnomAD |
|
| rs142960558 | 71 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1489084532 | 72 | M>L | No | gnomAD | |
| rs1489084532 | 72 | M>V | No | gnomAD | |
| COSM117012 | 74 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762788708 | 76 | R>C | No |
ExAC gnomAD |
|
| rs770916588 | 76 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1577525803 | 80 | V>G | No | Ensembl | |
| rs1714566421 | 81 | C>S | No | TOPMed | |
| rs1714566493 | 82 | N>H | No | TOPMed | |
| rs1302758661 | 84 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs373498027 | 84 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs144873693 | 85 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs144873693 | 85 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs766763901 | 87 | S>G | No |
ExAC TOPMed |
|
| rs752066516 | 87 | S>T | No |
ExAC gnomAD |
|
| rs1714567478 | 92 | L>V | No | gnomAD | |
|
COSM1042086 rs1714567550 |
93 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs755491313 | 93 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
COSM1205517 rs1714567696 |
94 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs747621686 | 95 | G>A | No |
ExAC TOPMed |
|
| rs747621686 | 95 | G>E | No |
ExAC TOPMed |
|
| rs1241015168 | 97 | I>L | No |
TOPMed gnomAD |
|
| rs1241015168 | 97 | I>V | No |
TOPMed gnomAD |
|
| TCGA novel | 98 | W>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777512461 | 99 | R>W | No |
ExAC gnomAD |
|
| rs376603901 | 100 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs141682247 | 100 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs915979381 | 101 | D>N | No |
TOPMed gnomAD |
|
| rs1201476030 | 102 | V>L | No | gnomAD | |
| rs774182718 | 103 | Q>R | No |
ExAC gnomAD |
|
| rs772010344 | 104 | R>L | No |
ExAC gnomAD |
|
| rs772010344 | 104 | R>Q | No |
ExAC gnomAD |
|
|
COSM1733693 rs745841437 |
104 | R>W | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1577525880 | 105 | V>G | No | Ensembl | |
| rs776719941 | 106 | Y>D | No |
ExAC gnomAD |
|
|
rs761829006 COSM1042087 |
107 | V>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs761829006 | 107 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1714569288 | 108 | E>Q | No | gnomAD | |
| rs1310681804 | 110 | K>E | No |
TOPMed gnomAD |
|
| rs1325313342 | 110 | K>R | No | gnomAD | |
| rs1309867845 | 113 | V>A | No |
TOPMed gnomAD |
|
| rs1441448893 | 113 | V>M | No |
TOPMed gnomAD |
|
| rs1243140106 | 114 | R>C | No |
TOPMed gnomAD |
|
| COSM4115803 | 114 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751926113 | 114 | R>P | No |
ExAC gnomAD |
|
| rs1243140106 | 114 | R>S | No |
TOPMed gnomAD |
|
| rs755471082 | 120 | P>S | No |
ExAC gnomAD |
|
| rs1714570371 | 121 | N>S | No |
TOPMed gnomAD |
|
| rs908381311 | 122 | I>F | No | TOPMed | |
| rs1211227977 | 122 | I>T | No | gnomAD | |
| rs934871048 | 123 | P>L | No | Ensembl | |
| rs926162190 | 123 | P>S | No | Ensembl | |
| rs2108436829 | 124 | G>A | No | Ensembl | |
| rs777415226 | 125 | S>P | No |
ExAC gnomAD |
|
| TCGA novel | 127 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745947275 | 128 | E>D | No |
TOPMed gnomAD |
|
| rs1714571012 | 128 | E>K | No | Ensembl | |
| rs749005451 | 129 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs749005451 | 129 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs1473920369 | 130 | F>L | No | gnomAD | |
| rs1714571404 | 132 | L>F | No | Ensembl | |
| rs2108436844 | 136 | E>K | No | Ensembl | |
| rs1331709573 | 139 | S>G | No | gnomAD | |
| rs771921950 | 140 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1714571923 | 141 | V>L | No | Ensembl | |
| rs1714571980 | 142 | A>T | No | TOPMed | |
| rs779906102 | 143 | S>T | No |
ExAC gnomAD |
|
| rs769922257 | 146 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs773256225 | 147 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs773256225 | 147 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs773256225 | 147 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs753303163 | 148 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1714572658 | 149 | W>* | No | TOPMed | |
| rs1714572816 | 150 | M>I | No | Ensembl | |
| rs150396958 | 150 | M>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1199670978 | 151 | E>G | No |
TOPMed gnomAD |
|
| rs1260332028 | 152 | N>K | No |
TOPMed gnomAD |
|
| rs1052769868 | 152 | N>S | No |
TOPMed gnomAD |
|
| rs768143669 | 153 | P>H | No |
ExAC gnomAD |
|
| rs530601246 | 154 | Y>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1034934013 | 154 | Y>C | No | Ensembl | |
| rs761249780 | 155 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs761249780 | 155 | V>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | V>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1425615630 | 157 | V>M | No | gnomAD | |
| rs1577526018 | 159 | T>P | No | Ensembl | |
| rs753356805 | 162 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1394989797 | 163 | D>N | No |
TOPMed gnomAD |
|
| rs1714574013 | 163 | D>V | No | TOPMed | |
| rs1714574067 | 164 | E>D | No | TOPMed | |
| VAR_042176 | 168 | R>L | a lung small cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
| rs145171419 | 168 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs374662963 | 168 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs768554029 | 169 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs149143236 | 172 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM5476445 rs1315526756 |
173 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1325504589 | 173 | R>H | No | gnomAD | |
| rs1161002948 | 176 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs771073306 | 176 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1321825879 | 178 | V>M | No | gnomAD | |
| rs376915139 | 179 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1257091260 COSM1617278 |
179 | R>H | liver [Cosmic] | No |
cosmic curated gnomAD |
|
COSM6097133 rs1257091260 COSM582792 |
179 | R>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic gnomAD |
| rs376915139 | 179 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 180 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1484485077 | 184 | L>V | No | gnomAD | |
| TCGA novel | 185 | S>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1714575697 | 186 | K>Q | No | TOPMed | |
| rs759675909 | 187 | A>S | No |
ExAC gnomAD |
|
| rs759675909 | 187 | A>T | No |
ExAC gnomAD |
|
| rs1560057872 | 187 | A>V | No | gnomAD | |
| rs772620531 | 191 | L>P | No |
ExAC gnomAD |
|
| COSM1042089 | 192 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 193 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1175361379 | 195 | D>E | No | gnomAD | |
| rs1479327666 | 195 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1270981122 | 197 | G>C | No | Ensembl | |
| rs371321162 | 198 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1453510930 | 201 | S>L | No | gnomAD | |
| rs764652577 | 202 | L>I | No |
ExAC gnomAD |
|
| rs267599717 | 205 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1325345728 | 206 | R>C | No | TOPMed | |
| rs1344093500 | 206 | R>H | No |
TOPMed gnomAD |
|
| rs1325345728 | 206 | R>S | No | TOPMed | |
| rs1714577623 | 207 | A>D | No | Ensembl | |
| rs758025687 | 207 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs970108083 | 211 | K>R | No | Ensembl | |
| rs1314485177 | 212 | C>R | No | gnomAD | |
| rs1314485177 | 212 | C>S | No | gnomAD | |
| rs1260263685 | 215 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1577526171 | 215 | T>P | No | Ensembl | |
| rs779865356 | 216 | T>A | No |
ExAC gnomAD |
|
| rs187877110 | 217 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM98894 rs187877110 |
217 | A>T | stomach [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1577526210 COSM4913751 |
218 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1190422204 | 220 | A>S | No |
TOPMed gnomAD |
|
| COSM1743275 | 220 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1053717016 | 221 | L>F | No | gnomAD | |
| rs1053717016 | 221 | L>V | No | gnomAD | |
| rs577684335 | 222 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1714579122 | 223 | P>L | No | TOPMed | |
|
COSM94217 rs757427786 |
223 | P>S | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs757427786 | 223 | P>T | No |
ExAC gnomAD |
|
| TCGA novel | 224 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772389628 | 224 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs776024993 | 226 | L>R | No |
ExAC gnomAD |
|
| rs1288096728 | 226 | L>V | No | gnomAD | |
| rs1363340143 | 227 | T>A | No | gnomAD | |
| rs1457050797 | 229 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1714579932 | 234 | L>P | No |
TOPMed gnomAD |
|
| rs1377834133 | 238 | P>S | No | gnomAD | |
| rs762220469 | 240 | T>I | No |
ExAC gnomAD |
|
| rs762220469 | 240 | T>S | No |
ExAC gnomAD |
|
| rs772566853 | 245 | A>S | No |
ExAC gnomAD |
|
| rs765968450 | 246 | V>M | No |
ExAC TOPMed gnomAD |
|
| COSM1042091 | 247 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1489331903 | 247 | E>K | No |
TOPMed gnomAD |
|
| rs1194071164 | 249 | S>L | No | gnomAD | |
| rs1382805863 | 255 | Y>H | No |
TOPMed gnomAD |
|
| rs752741261 | 258 | G>S | No |
ExAC gnomAD |
|
| COSM1421388 | 259 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1460787359 | 259 | D>N | No |
TOPMed gnomAD |
|
| rs1460787359 | 259 | D>Y | No |
TOPMed gnomAD |
|
| rs1714582267 | 261 | E>V | No |
TOPMed gnomAD |
|
| rs745899529 | 264 | V>G | No |
ExAC gnomAD |
|
| rs758712318 | 265 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs758712318 | 265 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs780365062 | 266 | V>A | No |
ExAC gnomAD |
|
| rs780365062 | 266 | V>G | No |
ExAC gnomAD |
|
| rs1313052497 | 266 | V>M | No | gnomAD | |
| rs1714582880 | 268 | A>S | No | gnomAD | |
| rs1577526354 | 270 | T>N | No | Ensembl | |
| rs1305914728 | 272 | A>T | No | gnomAD | |
| rs1257133837 | 274 | G>S | No | gnomAD | |
| rs770161870 | 275 | H>Y | No |
ExAC gnomAD |
|
| rs772802555 | 276 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs941073049 | 276 | E>K | No | TOPMed | |
| rs1482637829 | 279 | A>T | No | gnomAD | |
| rs1381534970 | 285 | R>C | No | gnomAD | |
| rs759178144 | 285 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs767397230 | 286 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs775374120 | 288 | P>A | No |
ExAC gnomAD |
|
| rs145160947 | 288 | P>L | No |
1000Genomes ExAC gnomAD |
|
| rs775374120 | 288 | P>S | No |
ExAC gnomAD |
|
| rs775374120 | 288 | P>T | No |
ExAC gnomAD |
|
| rs1560060264 | 289 | P>A | No | gnomAD | |
| rs1560060264 | 289 | P>T | No | gnomAD | |
| rs1272804494 | 290 | G>E | No | gnomAD | |
| rs533462780 | 291 | S>N | No |
1000Genomes ExAC gnomAD |
|
| rs751651488 | 293 | K>R | No |
ExAC gnomAD |
|
| rs1343454160 | 294 | A>S | No | Ensembl | |
| rs370076639 | 294 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs753111235 | 295 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1714661675 | 296 | Q>E | No |
TOPMed gnomAD |
|
| rs778100986 | 298 | E>K | No |
ExAC gnomAD |
|
| rs771399895 | 299 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs749846196 | 299 | G>R | No |
ExAC gnomAD |
|
| rs771399895 | 299 | G>V | No |
ExAC TOPMed gnomAD |
|
| COSM3915484 | 300 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs182804854 | 303 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs182804854 | 303 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs886285968 | 305 | P>H | No | Ensembl | |
| rs376039794 | 306 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs376039794 | 306 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs376039794 | 306 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1437170309 | 307 | N>S | No |
TOPMed gnomAD |
|
| rs1276534495 | 308 | S>N | No | gnomAD | |
| rs768629190 | 309 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs549078813 | 309 | R>H | No |
1000Genomes ExAC gnomAD |
|
| rs549078813 | 309 | R>L | No |
1000Genomes ExAC gnomAD |
|
| rs751702691 | 310 | T>I | No |
ExAC gnomAD |
|
| rs765218907 | 310 | T>P | No |
ExAC gnomAD |
|
| rs751702691 | 310 | T>S | No |
ExAC gnomAD |
|
| rs759467668 | 311 | T>A | No |
ExAC gnomAD |
|
| rs1577528471 | 311 | T>I | No | Ensembl | |
| rs759467668 | 311 | T>P | No |
ExAC gnomAD |
|
| rs140378597 | 312 | S>F | No | Ensembl | |
| rs752924603 | 312 | S>P | No |
ExAC gnomAD |
|
| rs1714663665 | 313 | P>A | No | TOPMed | |
| rs2108438255 | 314 | A>P | No | Ensembl | |
| rs1372211311 | 314 | A>V | No |
TOPMed gnomAD |
|
| rs141695759 | 315 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs141695759 | 315 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs754159266 | 317 | I>F | No | ExAC | |
| rs754159266 | 317 | I>L | No | ExAC | |
| rs1577528516 | 317 | I>T | No | TOPMed | |
| rs745384535 | 318 | C>F | No |
ExAC gnomAD |
|
| rs745384535 | 318 | C>S | No |
ExAC gnomAD |
|
| rs746687191 | 319 | T>I | No |
ExAC gnomAD |
|
| rs746687191 | 319 | T>N | No |
ExAC gnomAD |
|
| rs779602166 | 319 | T>P | No |
ExAC gnomAD |
|
| rs768390764 | 321 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs1714664640 | 322 | N>S | No | TOPMed | |
| rs1176017829 | 323 | N>I | No | gnomAD | |
| rs1266194550 | 323 | N>K | No | TOPMed | |
| rs1714664868 | 325 | Y>H | No |
TOPMed gnomAD |
|
| rs1714664996 | 326 | R>C | No | TOPMed | |
| rs1389820335 | 326 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs747895201 | 329 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs747895201 | 329 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs372695676 | 330 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1714665547 | 330 | D>Y | No | Ensembl | |
| rs868265911 | 331 | S>A | No |
TOPMed gnomAD |
|
| rs375556795 | 331 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs375556795 | 331 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs375556795 | 331 | S>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs767547020 | 332 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs767547020 | 332 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs528360770 | 333 | D>E | No | Ensembl | |
| rs1283229897 | 334 | S>N | No |
TOPMed gnomAD |
|
| rs369292032 | 334 | S>R | No | Ensembl | |
| rs760921373 | 335 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1477368352 | 338 | T>I | No | gnomAD | |
| rs149247223 | 339 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs763398988 | 341 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs1256335446 | 342 | P>L | No | gnomAD | |
| rs1714688147 | 342 | P>S | No | TOPMed | |
| rs372575808 | 344 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | R>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372575808 | 344 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs562993499 | 344 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1188006452 | 345 | G>D | No | TOPMed | |
| rs1464661037 | 348 | S>A | No | Ensembl | |
| rs1400999427 | 349 | N>S | No | gnomAD | |
| rs1233121524 | 354 | S>L | No | gnomAD | |
| rs1714689149 | 356 | I>T | No | Ensembl | |
| rs1256715336 | 356 | I>V | No |
TOPMed gnomAD |
|
| COSM4115806 | 358 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM730191 rs201322151 |
358 | E>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs777462615 | 360 | S>R | No |
ExAC gnomAD |
|
| rs1714689427 | 360 | S>T | No | Ensembl | |
| rs1714689554 | 361 | E>K | No | TOPMed | |
| rs549325655 | 363 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs781759967 | 363 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs781759967 | 363 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs549325655 | 363 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1014568253 | 365 | L>M | No | Ensembl | |
| rs1168221094 | 367 | G>R | No | gnomAD | |
| rs1714690213 | 368 | R>Q | No | TOPMed | |
| rs1198054446 | 368 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs746388630 | 369 | D>N | No |
ExAC gnomAD |
|
| rs768778880 | 371 | L>V | No |
ExAC gnomAD |
|
| rs1714690654 | 374 | N>S | No | gnomAD | |
| rs776669177 | 375 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1386759161 | 377 | C>W | No | gnomAD | |
| rs762060127 | 377 | C>Y | No |
ExAC gnomAD |
|
| rs1353353673 | 378 | K>Q | No |
TOPMed gnomAD |
|
| rs1714691206 | 380 | C>S | No | gnomAD | |
| rs1714691270 | 381 | H>Y | No | TOPMed | |
| rs757360039 | 382 | G>E | No | Ensembl | |
| rs2108438701 | 384 | G>E | No | Ensembl | |
| rs201958581 | 384 | G>R | No | Ensembl | |
| rs867469671 | 385 | G>E | No | Ensembl | |
| rs1354729210 | 385 | G>R | No | gnomAD | |
| rs763312420 | 386 | A>P | No |
ExAC gnomAD |
|
| rs752170254 | 387 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs200601511 | 388 | A>T | No |
ESP TOPMed gnomAD |
|
| rs767180194 | 389 | C>S | No |
ExAC TOPMed gnomAD |
|
| rs767180194 | 389 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs566350665 | 391 | R>C | No |
TOPMed gnomAD |
|
|
COSM3427398 rs141064214 |
391 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD |
| TCGA novel | 393 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755747537 | 395 | N>D | No |
ExAC gnomAD |
|
| rs777423504 | 395 | N>S | No |
ExAC gnomAD |
|
| rs144807386 | 396 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs144807386 | 396 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2108438724 | 399 | V>E | No | Ensembl | |
| rs375763872 | 399 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs140106380 | 401 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1365994557 | 401 | R>W | No | TOPMed | |
| COSM6164094 | 402 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1377714208 | 402 | Q>K | No | gnomAD | |
| COSM6164093 | 404 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769913740 | 406 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1261785920 | 407 | E>D | No | Ensembl | |
| rs370364618 | 408 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs535315602 | 408 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs773741899 | 409 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs768092104 | 409 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs773741899 | 409 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1351314275 | 410 | V>F | No | TOPMed | |
| rs775157731 | 412 | I>F | No | ExAC | |
| rs760161735 | 412 | I>N | No | ExAC | |
| rs1334916359 | 413 | S>N | No |
TOPMed gnomAD |
|
| rs1714695066 | 414 | H>R | No |
TOPMed gnomAD |
|
| TCGA novel | 415 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4856832 | 417 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs947277288 | 418 | H>Y | No | Ensembl | |
|
COSM1537235 COSM6164092 rs951062210 |
419 | T>A | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs763505156 | 419 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs763505156 | 419 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs142854760 | 420 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs373788594 | 420 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 421 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1401207898 | 422 | T>S | No | gnomAD | |
| TCGA novel | 423 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 424 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs569320067 | 424 | E>V | No |
1000Genomes ExAC gnomAD |
|
| rs1301108594 | 427 | A>V | No | gnomAD | |
| rs1336653894 | 430 | G>D | No | gnomAD | |
| rs1293729077 | 430 | G>S | No |
TOPMed gnomAD |
|
| rs756275485 | 432 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1392145486 | 435 | S>G | No | Ensembl | |
| rs1714696637 | 436 | P>A | No | Ensembl | |
| rs779216599 | 436 | P>L | No | gnomAD | |
| COSM4913275 | 436 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1714696839 | 438 | P>L | No | gnomAD | |
| rs749567734 | 438 | P>S | No |
ExAC gnomAD |
|
|
rs56029711 VAR_042177 |
440 | R>C | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
|
COSM4878509 rs370732996 |
440 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs370732996 | 440 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs370732996 | 440 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs1714697267 | 441 | Y>F | No |
TOPMed gnomAD |
|
| rs776201525 | 442 | A>E | No |
ExAC gnomAD |
|
|
rs776201525 COSM302144 |
442 | A>V | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs753545856 | 444 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs753545856 | 444 | V>M | No |
ExAC TOPMed gnomAD |
|
| COSM3590810 | 451 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1412087677 | 452 | A>T | No | gnomAD | |
| rs1215405583 | 452 | A>V | No | gnomAD | |
| rs772907622 | 453 | P>S | No |
ExAC gnomAD |
|
| rs571801223 | 455 | E>K | No | Ensembl | |
| rs766204022 | 456 | V>L | No |
ExAC gnomAD |
|
| rs1714702397 | 458 | T>I | No | gnomAD | |
| rs1378516773 | 460 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs367551424 | 460 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs367551424 | 460 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs753960972 | 462 | H>Q | No |
ExAC gnomAD |
|
| rs976448749 | 463 | S>N | No |
TOPMed gnomAD |
|
| rs1714705115 | 463 | S>R | No |
TOPMed gnomAD |
|
| rs1489826786 | 464 | S>I | No |
TOPMed gnomAD |
|
| rs1402238373 | 465 | S>L | No | gnomAD | |
| rs1349252295 | 466 | G>D | No | gnomAD | |
| rs1441501555 | 467 | S>G | No | gnomAD | |
| rs1560061795 | 468 | S>N | No | Ensembl | |
| rs750720535 | 470 | T>I | No |
ExAC gnomAD |
|
| rs1646814082 | 471 | L>V | No |
TOPMed gnomAD |
|
| rs1352317421 | 475 | P>L | No | gnomAD | |
| rs1714705926 | 475 | P>T | No | TOPMed | |
| rs780497068 | 477 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1714706067 | 477 | E>K | No | TOPMed | |
| rs1714706067 | 477 | E>Q | No | TOPMed | |
| rs375496102 | 478 | R>Q | No |
ESP TOPMed gnomAD |
|
| rs747285934 | 478 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs564635010 COSM1421390 |
479 | P>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1182532667 | 480 | N>K | No |
TOPMed gnomAD |
|
| rs748640806 | 480 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1476648706 | 485 | D>N | No | Ensembl | |
| COSM4115807 | 485 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 486 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 487 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770525111 | 487 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs774211642 | 490 | Y>F | No |
ExAC gnomAD |
|
| rs1560061881 | 492 | E>K | No | Ensembl | |
|
TCGA novel rs1560061881 |
492 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1714711492 | 494 | S>N | No | TOPMed | |
|
rs531602325 COSM730188 |
495 | E>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1355627786 | 496 | G>C | No |
TOPMed gnomAD |
|
| rs1714711921 | 496 | G>D | No | Ensembl | |
| rs571726697 | 498 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 499 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780515790 | 501 | V>L | No | Ensembl | |
| rs780515790 | 501 | V>M | No | Ensembl | |
| rs745516888 | 504 | Q>* | No |
ExAC gnomAD |
|
| COSM232259 | 505 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2108438982 | 505 | M>T | No | Ensembl | |
| rs976708397 | 508 | V>L | No |
TOPMed gnomAD |
|
| rs976708397 | 508 | V>M | No |
TOPMed gnomAD |
|
| rs921207057 | 512 | G>R | No |
TOPMed gnomAD |
|
| COSM3915486 | 513 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773436930 | 514 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs773436930 | 514 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs137990292 | 514 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1476759332 | 515 | P>S | No | gnomAD | |
| rs2108438998 | 516 | D>G | No | Ensembl | |
| rs372320884 | 517 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372320884 COSM209050 |
517 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs767806437 | 517 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs144538024 | 518 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs756630127 | 518 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs756630127 | 518 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1298374767 | 523 | V>I | No | gnomAD | |
| rs749795926 | 524 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1232648223 | 524 | R>H | No | gnomAD | |
| rs1714713999 | 525 | A>T | No | gnomAD | |
| rs1560062139 | 526 | R>C | No |
TOPMed gnomAD |
|
| rs1560062139 | 526 | R>G | No |
TOPMed gnomAD |
|
|
rs756778465 COSM1617280 |
526 | R>H | liver [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1238216819 | 528 | V>I | No | gnomAD | |
| rs745543009 | 530 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs775444676 | 534 | Y>* | No |
ExAC gnomAD |
|
| rs554953614 | 536 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs200203653 COSM5465800 |
536 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs200203653 | 536 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200203653 | 536 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1395133189 | 537 | P>A | No |
TOPMed gnomAD |
|
| rs1395133189 | 537 | P>S | No |
TOPMed gnomAD |
|
| rs938878494 | 539 | E>D | No | Ensembl | |
| rs1156449323 | 539 | E>K | No |
TOPMed gnomAD |
|
| rs1363655393 | 540 | F>S | No | gnomAD | |
| COSM4115808 | 541 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1454640254 | 542 | T>N | No | gnomAD | |
| rs368047857 | 544 | S>G | No |
ESP TOPMed gnomAD |
|
| rs1714716684 | 547 | G>S | No | Ensembl | |
| rs1714718875 | 548 | S>F | No | Ensembl | |
| rs1393331336 | 549 | G>E | No | gnomAD | |
| rs558140041 | 550 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs1714719118 | 551 | Q>K | No | Ensembl | |
| rs1273747541 | 552 | Q>* | No | gnomAD | |
| rs1273747541 | 552 | Q>E | No | gnomAD | |
| rs375352858 | 552 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs769723157 | 552 | Q>L | No |
ExAC gnomAD |
|
| rs1182474348 | 553 | L>F | No | gnomAD | |
| rs1250232728 | 554 | Q>K | No | gnomAD | |
| rs143057646 | 555 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1254594162 | 558 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs775751510 | 559 | L>F | No |
ExAC gnomAD |
|
| TCGA novel | 559 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1714720741 | 559 | L>R | No | Ensembl | |
| rs148220856 | 560 | I>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148220856 | 560 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs757650148 | 561 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs141148443 | 564 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1367250993 | 565 | T>A | No | Ensembl | |
|
rs1375009510 COSM369089 |
565 | T>I | lung [Cosmic] | No |
cosmic curated gnomAD |
| COSM3590813 | 566 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751305478 | 567 | G>V | No |
ExAC gnomAD |
|
| rs1212711281 | 568 | L>F | No | gnomAD | |
| rs878964714 | 568 | L>R | No | Ensembl | |
| rs1714721923 | 569 | V>A | No | Ensembl | |
| rs559050553 | 570 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs147361564 | 571 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs147361564 | 571 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1423604887 | 573 | A>D | No |
TOPMed gnomAD |
|
| rs2108439123 | 573 | A>T | No | Ensembl | |
| rs1714722395 | 574 | V>I | No | Ensembl | |
| rs1267231212 | 575 | V>A | No |
TOPMed gnomAD |
|
| rs781716924 | 575 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs781716924 | 575 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs777836963 | 576 | V>I | No |
ExAC gnomAD |
|
| rs772193071 | 578 | A>T | No |
ExAC TOPMed gnomAD |
|
|
rs56103851 VAR_042178 |
579 | I>V | No |
UniProt TOPMed dbSNP |
|
| rs139326780 | 580 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1430391535 | 581 | C>F | No | gnomAD | |
| COSM3846901 | 582 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770645771 | 585 | Q>* | No | Ensembl | |
| rs373243700 | 585 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1714738706 | 586 | R>* | No | Ensembl | |
| rs1441268317 | 586 | R>Q | No |
TOPMed gnomAD |
|
| rs143288110 | 587 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs558627644 | 588 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs376314906 | 591 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
| rs184970361 | 594 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs184970361 | 594 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1212349187 | 595 | E>V | No | gnomAD | |
| rs1252525335 | 596 | K>N | No | gnomAD | |
| rs1714739783 | 598 | Q>* | No | TOPMed | |
| rs1419972843 | 598 | Q>H | No | gnomAD | |
| TCGA novel | 599 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs56129875 VAR_042179 |
601 | I>L | No |
UniProt Ensembl dbSNP |
|
| rs1473454730 | 601 | I>T | No | gnomAD | |
| rs1714765041 | 602 | A>T | No | Ensembl | |
| rs1185462418 | 602 | A>V | No | gnomAD | |
| rs1714765158 | 603 | P>S | No | Ensembl | |
| rs1290115860 | 604 | G>V | No | TOPMed | |
| rs758237101 | 605 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1475474154 | 607 | V>F | No | gnomAD | |
| rs1714765459 | 608 | Y>S | No | Ensembl | |
| rs540556062 | 609 | I>F | No |
1000Genomes TOPMed gnomAD |
|
| rs1292077521 | 609 | I>T | No | TOPMed | |
| rs540556062 | 609 | I>V | No |
1000Genomes TOPMed gnomAD |
|
| rs1714765810 | 610 | D>A | No | Ensembl | |
| rs200910901 | 612 | F>V | No |
1000Genomes ExAC gnomAD |
|
| rs147540989 | 613 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1714766170 | 614 | Y>H | No |
TOPMed gnomAD |
|
| rs112385651 | 615 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs779386061 | 618 | N>D | No |
ExAC TOPMed gnomAD |
|
| COSM730185 | 618 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4604587 | 619 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772413999 | 621 | V>I | No |
ExAC gnomAD |
|
| rs1268552150 | 622 | R>G | No |
TOPMed gnomAD |
|
| rs763019589 | 622 | R>Q | No |
ExAC gnomAD |
|
| rs1268552150 | 622 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1714767379 | 625 | A>G | No | TOPMed | |
| COSM6097132 | 627 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768211202 | 629 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs150037161 | 630 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1010787580 | 631 | S>C | No | Ensembl | |
| rs766161845 | 633 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs767600371 | 633 | V>I | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 633 | V>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1714768344 | 636 | E>* | No | Ensembl | |
| rs148754015 | 639 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1312705730 | 640 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1007154737 | 641 | A>V | No | Ensembl | |
| rs753916557 | 645 | G>E | No |
ExAC gnomAD |
|
| rs369750575 | 647 | V>M | No | ESP | |
| rs980639494 | 649 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs534204009 | 649 | R>H | No |
ExAC TOPMed gnomAD |
|
| COSM446109 | 649 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1251977584 | 650 | G>D | No | TOPMed | |
| rs377144155 | 650 | G>S | No |
ESP ExAC gnomAD |
|
| rs758750221 | 651 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs758750221 | 651 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1577531649 | 653 | K>N | No | Ensembl | |
| rs922729287 | 654 | Q>P | No | gnomAD | |
| rs922729287 | 654 | Q>R | No | gnomAD | |
| rs1235285565 | 655 | P>A | No | gnomAD | |
| rs1235285565 | 655 | P>S | No | gnomAD | |
| rs369095387 | 657 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs756380352 | 657 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs756380352 | 657 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs780703655 | 658 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs780703655 | 658 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs200994037 | 658 | R>Q | No |
TOPMed gnomAD |
|
| rs1714772883 | 660 | V>A | No | Ensembl | |
| rs1310221097 | 660 | V>L | No | Ensembl | |
| rs772797431 | 664 | I>L | No |
ExAC gnomAD |
|
| rs1363693101 | 664 | I>M | No | gnomAD | |
| rs1242528938 | 665 | K>R | No | TOPMed | |
| rs766794354 | 666 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1714773484 | 670 | G>D | No | gnomAD | |
| rs1382279108 | 671 | Y>C | No | gnomAD | |
| rs1297621055 | 671 | Y>H | No |
TOPMed gnomAD |
|
| rs776860405 | 672 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs776860405 | 672 | T>N | No |
ExAC TOPMed gnomAD |
|
|
rs754275959 COSM1753056 |
673 | E>K | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs547253938 | 674 | R>T | No | 1000Genomes | |
| rs1412525112 | 675 | Q>E | No | Ensembl | |
| rs1714774485 | 676 | R>Q | No | TOPMed | |
| rs55824948 | 676 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1389769224 | 677 | R>Q | No | gnomAD | |
|
rs376071253 COSM5708631 |
677 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD |
| rs1577531755 | 678 | D>G | No | Ensembl | |
| rs758617087 | 678 | D>Y | No |
ExAC gnomAD |
|
| TCGA novel | 681 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1714775099 | 682 | E>K | No | Ensembl | |
| rs1212644824 | 686 | M>V | No | gnomAD | |
| rs1273458201 | 687 | G>S | No |
TOPMed gnomAD |
|
| rs1713302910 | 689 | F>L | No | Ensembl | |
| rs1714775614 | 690 | D>G | No | Ensembl | |
| rs1193582660 | 690 | D>N | No | gnomAD | |
| rs748640484 | 692 | P>A | No |
ExAC gnomAD |
|
| rs1714775846 | 692 | P>L | No | gnomAD | |
| rs755668878 | 693 | N>S | No |
ExAC gnomAD |
|
| rs371900672 | 695 | I>T | No |
ESP ExAC gnomAD |
|
| rs748921352 | 696 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs1475104653 COSM3590816 |
696 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs371079069 | 698 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs771992201 | 700 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
COSM98105 rs1290179963 |
701 | V>F | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated gnomAD |
| rs1560064040 | 702 | T>S | No | Ensembl | |
| rs760669239 | 703 | K>R | No |
ExAC gnomAD |
|
|
COSM1042097 rs746516826 |
704 | S>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs746516826 | 704 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1224865732 | 705 | R>Q | No | gnomAD | |
|
rs773303627 COSM3915487 |
705 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs757806643 | 706 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1259662067 | 706 | P>T | No | gnomAD | |
| COSM4115810 | 709 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766565475 | 709 | I>V | No |
ExAC gnomAD |
|
| rs1485516479 | 713 | F>I | No | gnomAD | |
| rs1485516479 | 713 | F>L | No | gnomAD | |
| rs767844481 | 714 | M>T | No |
ExAC gnomAD |
|
| rs753240727 | 715 | E>K | No |
ExAC gnomAD |
|
| rs1426946874 | 717 | C>R | No | gnomAD | |
| COSM730184 | 718 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777166808 | 718 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs753327984 | 720 | D>H | No |
ExAC gnomAD |
|
| rs368055350 | 724 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
|
rs368055350 COSM1421393 |
724 | R>Q | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
|
VAR_042180 rs371378866 COSM12831 |
724 | R>W | lung a lung neuroendocrine carcinoma sample; somatic mutation [Cosmic, UniProt] | No |
cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 725 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs367573706 | 726 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1714789311 | 727 | D>G | No |
TOPMed gnomAD |
|
|
rs34170386 COSM1471540 |
727 | D>N | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs34170386 | 727 | D>Y | No |
ExAC gnomAD |
|
| rs1326494826 | 729 | Q>P | No | gnomAD | |
| rs1370218915 | 730 | F>L | No |
TOPMed gnomAD |
|
| rs1217426361 | 731 | T>A | No |
TOPMed gnomAD |
|
| rs1261462043 | 731 | T>M | No | gnomAD | |
| rs1217426361 | 731 | T>P | No |
TOPMed gnomAD |
|
| rs1209726404 | 732 | V>A | No | TOPMed | |
| rs1714790149 | 734 | Q>* | No | TOPMed | |
| COSM730183 | 738 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs781247528 | 738 | M>T | No |
ExAC TOPMed gnomAD |
|
| COSM70634 | 739 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1317296938 | 740 | R>Q | No |
TOPMed gnomAD |
|
|
COSM4968838 rs1714790495 |
740 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs1714790709 | 741 | G>A | No |
TOPMed gnomAD |
|
| rs1236240465 | 742 | I>V | No |
TOPMed gnomAD |
|
| rs1398671390 | 744 | A>T | No | gnomAD | |
| rs1266529706 | 745 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs774373853 | 745 | G>V | No |
ExAC gnomAD |
|
| COSM1042098 | 749 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4931102 | 749 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764357218 | 751 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs764357218 | 751 | E>Q | No |
ExAC TOPMed gnomAD |
|
| COSM1205519 | 752 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777247629 | 752 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs762197883 | 754 | Y>D | No |
ExAC gnomAD |
|
| rs1289356410 | 757 | R>C | No |
TOPMed gnomAD |
|
| rs1714791768 | 757 | R>L | No | TOPMed | |
|
rs1212017391 COSM4115813 |
758 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1714792171 COSM1421396 |
762 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs1452194148 | 762 | R>H | No |
1000Genomes gnomAD |
|
| rs1231317780 | 764 | I>N | No |
TOPMed gnomAD |
|
| rs758138726 | 766 | V>A | No |
ExAC gnomAD |
|
| rs1162284145 | 769 | N>D | No | gnomAD | |
| rs754850312 | 770 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs780819080 | 771 | V>A | No |
ExAC gnomAD |
|
| COSM3590817 | 775 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6164091 | 778 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs372396917 | 781 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs745879472 | 781 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs772129945 | 782 | F>V | No | ExAC | |
| rs1036010431 | 785 | D>N | No |
TOPMed gnomAD |
|
| rs1357317283 | 786 | D>A | No | gnomAD | |
| rs1357317283 | 786 | D>G | No | gnomAD | |
| rs747181480 | 786 | D>N | No |
ExAC gnomAD |
|
| COSM3590818 | 787 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs146519815 | 788 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
|
rs146519815 COSM4479821 |
788 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs146519815 | 788 | S>Y | No |
ESP ExAC TOPMed gnomAD |
|
| COSM4115814 | 789 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1204301997 | 790 | P>L | No | gnomAD | |
| rs772853395 | 791 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1714794671 | 793 | T>I | No | Ensembl | |
| rs1577532451 | 793 | T>P | No | gnomAD | |
| COSM3590819 | 795 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1714794797 | 796 | L>V | No | gnomAD | |
| rs1173606859 | 797 | G>D | No | gnomAD | |
| rs752387778 | 798 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1714798222 | 798 | G>V | No | TOPMed | |
| rs1714798346 | 799 | K>M | No | Ensembl | |
| rs150152730 | 800 | I>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1714798604 | 801 | P>A | No | TOPMed | |
| rs267599718 | 801 | P>L | No | Ensembl | |
| rs763850697 | 802 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs928574732 | 803 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs753817157 | 803 | R>H | No |
ExAC gnomAD |
|
| rs753817157 | 803 | R>L | No |
ExAC gnomAD |
|
| COSM6097131 | 804 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757148735 | 806 | A>G | No |
ExAC gnomAD |
|
| rs575214989 | 807 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs374567246 | 813 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs781335594 | 813 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs374567246 COSM3590820 |
813 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1464152374 | 815 | F>V | No | gnomAD | |
| rs1714799633 | 818 | A>T | No | Ensembl | |
| rs964094229 | 818 | A>V | No |
TOPMed gnomAD |
|
| COSM1484921 | 820 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770322127 | 822 | W>* | No |
ExAC gnomAD |
|
| rs749833291 | 825 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1714800044 | 826 | I>V | No | Ensembl | |
| rs920048509 | 827 | V>I | No | gnomAD | |
| rs771505755 | 828 | M>T | No |
ExAC gnomAD |
|
| rs1714800310 | 829 | W>* | No | TOPMed | |
| rs201145215 | 829 | W>R | No |
1000Genomes gnomAD |
|
| rs1457942350 | 831 | V>G | No | gnomAD | |
| rs200524500 | 832 | M>R | No | 1000Genomes | |
| rs200524500 | 832 | M>T | No | 1000Genomes | |
| rs773914022 | 833 | S>R | No |
ExAC gnomAD |
|
| rs1714800534 | 833 | S>T | No |
TOPMed gnomAD |
|
|
rs759032023 COSM1421397 |
834 | Y>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1331610227 | 836 | E>D | No | gnomAD | |
| rs1300428807 | 836 | E>K | No | gnomAD | |
| rs1235401341 | 837 | R>P | No |
TOPMed gnomAD |
|
| rs1235401341 | 837 | R>Q | No |
TOPMed gnomAD |
|
| rs1377817962 | 842 | M>I | No |
TOPMed gnomAD |
|
| rs775050966 | 842 | M>K | No |
ExAC TOPMed gnomAD |
|
| rs1234028773 | 842 | M>L | No |
TOPMed gnomAD |
|
| rs1328272606 | 845 | Q>* | No | gnomAD | |
| rs1714801649 | 846 | D>G | No | gnomAD | |
| rs1269650298 | 846 | D>N | No | gnomAD | |
| rs1714804869 | 847 | V>A | No | TOPMed | |
| rs1714804928 | 848 | I>F | No | Ensembl | |
| rs1714804928 | 848 | I>V | No | Ensembl | |
| rs746361056 | 850 | A>T | No |
ExAC TOPMed |
|
| rs771519161 | 850 | A>V | No |
ExAC gnomAD |
|
| rs746690662 | 851 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs746690662 | 851 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs776416091 | 853 | Q>E | No |
ExAC gnomAD |
|
| rs563209426 | 856 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs761663522 | 856 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs370476366 | 859 | P>L | No |
ESP TOPMed |
|
| rs773074850 | 859 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1165799669 | 860 | P>L | No | gnomAD | |
| rs762906708 | 860 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs762906708 | 860 | P>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 861 | M>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1166574205 | 861 | M>I | No |
TOPMed gnomAD |
|
| rs752766874 | 861 | M>L | No |
ExAC gnomAD |
|
|
COSM1421398 rs1714806401 |
861 | M>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs1714806607 | 863 | C>S | No | TOPMed | |
| rs1053464956 | 864 | P>L | No | Ensembl | |
| rs1714806773 | 865 | T>I | No | TOPMed | |
| rs1577532881 | 865 | T>P | No | Ensembl | |
| rs756408034 | 866 | A>E | No |
ExAC gnomAD |
|
| rs1309605764 | 870 | L>H | No |
TOPMed gnomAD |
|
| TCGA novel | 871 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1714807105 | 871 | M>L | No | TOPMed | |
| rs1714807170 | 872 | L>M | No | TOPMed | |
| rs1395057131 | 873 | D>G | No | gnomAD | |
| rs754095515 | 873 | D>Y | No |
ExAC gnomAD |
|
|
COSM4924851 rs1577532899 |
876 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1313022937 | 876 | V>M | No | gnomAD | |
|
COSM4115815 rs779302587 |
877 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs373987540 | 877 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs779557910 | 879 | R>Q | No |
ExAC gnomAD |
|
| rs367858130 | 879 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1714807941 | 880 | N>K | No |
TOPMed gnomAD |
|
| rs1255811150 | 880 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| COSM1484922 | 881 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 882 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776323145 | 885 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1375491503 | 887 | Q>H | No | TOPMed | |
| rs1277732227 | 888 | I>T | No |
TOPMed gnomAD |
|
| rs1426740311 | 888 | I>V | No | gnomAD | |
| rs1415559393 | 889 | V>L | No | gnomAD | |
| rs1560065356 | 890 | N>S | No | Ensembl | |
| rs1188001455 | 891 | T>N | No |
TOPMed gnomAD |
|
| rs1577532951 | 891 | T>P | No | Ensembl | |
| COSM730182 | 894 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769518076 | 894 | K>N | No |
ExAC gnomAD |
|
| rs760955586 | 895 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs760955586 | 895 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs762809259 | 897 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs1357171765 COSM5005181 |
897 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1357171765 | 897 | R>L | No |
TOPMed gnomAD |
|
| rs774425967 | 898 | N>S | No |
ExAC gnomAD |
|
| rs1374461997 | 899 | A>G | No | Ensembl | |
| rs199632514 | 900 | A>V | No |
1000Genomes gnomAD |
|
| rs764242189 | 904 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs893591288 | 905 | I>V | No |
TOPMed gnomAD |
|
| rs754150783 | 906 | A>T | No |
ExAC gnomAD |
|
| rs1714809840 | 906 | A>V | No | gnomAD | |
| rs551443278 | 907 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1714810076 | 908 | A>G | No | Ensembl | |
| rs765545961 | 908 | A>S | No |
ExAC TOPMed gnomAD |
|
|
COSM4115816 rs765545961 |
908 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| COSM4115817 | 910 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758837913 | 910 | S>P | No |
ExAC gnomAD |
|
| rs147185039 | 911 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs768884957 | 912 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1208298412 | 912 | M>L | No |
TOPMed gnomAD |
|
| rs759513444 | 912 | M>T | No |
ExAC gnomAD |
|
| rs1208298412 | 912 | M>V | No |
TOPMed gnomAD |
|
| rs1714812224 | 916 | L>F | No | Ensembl | |
| rs1714812289 | 918 | D>N | No | Ensembl | |
| rs776806796 | 919 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs761956753 | 919 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs761956753 | 919 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1488106731 | 920 | T>M | No |
TOPMed gnomAD |
|
| rs750610363 | 921 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1714813918 | 922 | P>L | No | TOPMed | |
| rs1714813918 | 922 | P>Q | No | TOPMed | |
| rs1471500854 | 922 | P>S | No | gnomAD | |
| rs1157884908 | 923 | D>Y | No | gnomAD | |
| TCGA novel | 924 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372221231 | 926 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
|
rs143430250 COSM3590821 |
926 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs143430250 | 926 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs143430250 | 926 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs752102362 | 928 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1714814921 | 929 | T>A | No | gnomAD | |
| rs1357687152 | 930 | V>A | No | gnomAD | |
| rs1295829988 | 930 | V>I | No |
TOPMed gnomAD |
|
| rs1228175728 | 932 | D>G | No | gnomAD | |
| rs1484978796 | 932 | D>N | No | TOPMed | |
| rs202198661 | 940 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs202198661 | 940 | G>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1714815552 | 940 | G>R | No | Ensembl | |
| rs571252781 | 941 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1421399 rs770886313 |
941 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1577533187 | 942 | Y>D | No | gnomAD | |
| rs745819860 | 942 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs1577533187 | 942 | Y>H | No | gnomAD | |
| rs1481913744 | 943 | K>E | No |
TOPMed gnomAD |
|
| rs942981661 | 945 | S>N | No | TOPMed | |
| rs557737284 | 945 | S>R | No |
1000Genomes gnomAD |
|
| rs201579004 | 947 | V>I | No |
1000Genomes ExAC gnomAD |
|
| rs1405463515 | 949 | A>T | No | gnomAD | |
| rs773532061 | 949 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1308996395 | 950 | G>E | No |
TOPMed gnomAD |
|
|
COSM3590822 rs766762619 |
950 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| COSM4892564 | 951 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1577533250 | 951 | F>V | No | Ensembl | |
| COSM3590823 | 953 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1357073362 | 955 | D>E | No | gnomAD | |
| rs1714817514 | 955 | D>H | No | gnomAD | |
| rs1283844442 | 955 | D>V | No | gnomAD | |
| TCGA novel | 956 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753131023 | 960 | M>I | No |
ExAC gnomAD |
|
| rs1339954996 | 960 | M>T | No | gnomAD | |
| rs574118020 | 961 | T>M | No |
1000Genomes ExAC gnomAD |
|
| rs1714817995 | 961 | T>S | No | TOPMed | |
| rs763476526 | 962 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs763476526 | 962 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1714821725 | 963 | E>D | No | Ensembl | |
| rs753227216 | 964 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1714821788 | 964 | D>H | No | gnomAD | |
| rs756976275 | 965 | L>V | No |
ExAC gnomAD |
|
| rs779683047 | 967 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs890270833 | 967 | R>H | No |
TOPMed gnomAD |
|
| COSM1308900 | 967 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 968 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1714822352 | 969 | G>E | No | Ensembl | |
| rs749686296 | 970 | V>I | No |
TOPMed gnomAD |
|
| rs746999423 | 971 | T>A | No |
ExAC gnomAD |
|
| rs746999423 | 971 | T>P | No |
ExAC gnomAD |
|
| rs754824776 | 972 | L>P | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 973 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs971902193 | 975 | H>R | No |
TOPMed gnomAD |
|
| rs1231049158 | 975 | H>Y | No | gnomAD | |
| rs1714822931 | 979 | I>L | No | TOPMed | |
| rs749436110 | 979 | I>N | No |
ExAC gnomAD |
|
| rs11544573 | 981 | S>I | No | gnomAD | |
| rs11544573 | 981 | S>N | No | gnomAD | |
| rs1560065935 | 982 | S>C | No | Ensembl | |
| rs1224921793 | 982 | S>N | No |
TOPMed gnomAD |
|
| rs1224921793 | 982 | S>T | No |
TOPMed gnomAD |
|
| rs1250491402 | 984 | Q>E | No |
TOPMed gnomAD |
|
| rs770984953 | 986 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs774604679 | 986 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs539714486 | 987 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs775664957 | 987 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs539714486 | 987 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs778736125 | 988 | L>Q | No | Ensembl | |
| rs1577533485 | 990 | M>I | No | Ensembl | |
| rs370131010 | 990 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1577533487 | 991 | N>D | No | Ensembl | |
| rs1378532830 | 991 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs764445140 | 991 | N>S | No |
ExAC gnomAD |
|
| rs764445140 | 991 | N>T | No |
ExAC gnomAD |
|
| rs2108440636 | 992 | Q>E | No | Ensembl | |
| rs200546160 | 993 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs200546160 | 993 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs764822427 | 995 | P>L | No |
ExAC gnomAD |
|
| COSM3846902 | 995 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750141705 | 996 | V>M | No |
ExAC gnomAD |
|
| rs1388719047 | 997 | Q>H | No |
TOPMed gnomAD |
|
| TCGA novel | 997 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1577533514 | 998 | V>G | No | Ensembl |
No associated diseases with P54753
9 regional properties for P54753
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, RING-type | 373 - 412 | IPR001841 |
| domain | Adaptor protein Cbl, N-terminal helical | 42 - 167 | IPR003153 |
| domain | Adaptor protein Cbl, EF hand-like | 171 - 254 | IPR014741 |
| domain | Adaptor protein Cbl, SH2-like domain | 248 - 344 | IPR014742 |
| domain | Ubiquitin-associated domain | 931 - 970 | IPR015940 |
| conserved_site | Zinc finger, RING-type, conserved site | 388 - 397 | IPR017907 |
| domain | Zinc finger, C3HC4 RING-type | 373 - 411 | IPR018957 |
| domain | Adaptor protein Cbl, PTB domain | 35 - 343 | IPR024159 |
| domain | E3 ubiquitin-protein ligase CBL-B, RING finger, HC subclass | 351 - 426 | IPR039520 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.1 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| axon guidance receptor activity | Combining with an extracellular messenger and transmitting the signal from one side of the membrane to the other to results in a change in cellular activity involved in axon guidance. |
| ephrin receptor activity | Combining with an ephrin receptor ligand to initiate a change in cell activity. |
| transmembrane-ephrin receptor activity | Combining with a transmembrane ephrin to initiate a change in cell activity. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| axonal fasciculation | The collection of axons into a bundle of rods, known as a fascicle. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. |
| central nervous system projection neuron axonogenesis | Generation of a long process of a CNS neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells in a different central nervous system region. |
| corpus callosum development | The process whose specific outcome is the progression of the corpus callosum over time, from its formation to the mature structure. The corpus callosum is a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres. It consists of contralateral axon projections that provide communication between the right and left cerebral hemispheres. |
| dendritic spine development | The process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| dendritic spine morphogenesis | The process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| digestive tract morphogenesis | The process in which the anatomical structures of the digestive tract are generated and organized. The digestive tract is the anatomical structure through which food passes and is processed. |
| ephrin receptor signaling pathway | The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of synapse assembly | Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse. |
| 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 axonogenesis | Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. |
| regulation of cell-cell adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| retinal ganglion cell axon guidance | The process in which the migration of an axon growth cone of a retinal ganglion cell (RGC) is directed to its target in the brain in response to a combination of attractive and repulsive cues. |
| roof of mouth development | The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities. |
| substrate adhesion-dependent cell spreading | The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate. |
| thymus development | The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components. |
| urogenital system development | The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure. |
49 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P28693 | EPHB2 | Ephrin type-B receptor 2 | Gallus gallus (Chicken) | PR |
| Q07496 | EPHA4 | Ephrin type-A receptor 4 | Gallus gallus (Chicken) | SS |
| Q07494 | EPHB1 | Ephrin type-B receptor 1 | Gallus gallus (Chicken) | SS |
| Q07497 | EPHB5 | Ephrin type-B receptor 5 | Gallus gallus (Chicken) | PR |
| P29318 | EPHA3 | Ephrin type-A receptor 3 | Gallus gallus (Chicken) | SS |
| O42422 | EPHA7 | Ephrin type-A receptor 7 | Gallus gallus (Chicken) | SS |
| P54755 | EPHA5 | Ephrin type-A receptor 5 | Gallus gallus (Chicken) | SS |
| Q07498 | EPHB3 | Ephrin type-B receptor 3 | Gallus gallus (Chicken) | SS |
| P0C0K6 | EPHB6 | Ephrin type-B receptor 6 | Pan troglodytes (Chimpanzee) | SS |
| P21709 | EPHA1 | Ephrin type-A receptor 1 | Homo sapiens (Human) | SS |
| P54760 | EPHB4 | Ephrin type-B receptor 4 | Homo sapiens (Human) | SS |
| P29317 | EPHA2 | Ephrin type-A receptor 2 | Homo sapiens (Human) | SS |
| Q15375 | EPHA7 | Ephrin type-A receptor 7 | Homo sapiens (Human) | SS |
| P54756 | EPHA5 | Ephrin type-A receptor 5 | Homo sapiens (Human) | SS |
| Q9UF33 | EPHA6 | Ephrin type-A receptor 6 | Homo sapiens (Human) | SS |
| P54762 | EPHB1 | Ephrin type-B receptor 1 | Homo sapiens (Human) | SS |
| P29322 | EPHA8 | Ephrin type-A receptor 8 | Homo sapiens (Human) | SS |
| P29320 | EPHA3 | Ephrin type-A receptor 3 | Homo sapiens (Human) | PR |
| P54764 | EPHA4 | Ephrin type-A receptor 4 | Homo sapiens (Human) | SS |
| Q5JZY3 | EPHA10 | Ephrin type-A receptor 10 | Homo sapiens (Human) | SS |
| O15197 | EPHB6 | Ephrin type-B receptor 6 | Homo sapiens (Human) | SS |
| P29323 | EPHB2 | Ephrin type-B receptor 2 | Homo sapiens (Human) | EV |
| Q03145 | Epha2 | Ephrin type-A receptor 2 | Mus musculus (Mouse) | PR |
| Q03137 | Epha4 | Ephrin type-A receptor 4 | Mus musculus (Mouse) | SS |
| Q61772 | Epha7 | Ephrin type-A receptor 7 | Mus musculus (Mouse) | SS |
| O09127 | Epha8 | Ephrin type-A receptor 8 | Mus musculus (Mouse) | SS |
| Q8CBF3 | Ephb1 | Ephrin type-B receptor 1 | Mus musculus (Mouse) | SS |
| Q8BYG9 | Epha10 | Ephrin type-A receptor 10 | Mus musculus (Mouse) | SS |
| Q60629 | Epha5 | Ephrin type-A receptor 5 | Mus musculus (Mouse) | SS |
| P29319 | Epha3 | Ephrin type-A receptor 3 | Mus musculus (Mouse) | SS |
| Q62413 | Epha6 | Ephrin type-A receptor 6 | Mus musculus (Mouse) | SS |
| Q60750 | Epha1 | Ephrin type-A receptor 1 | Mus musculus (Mouse) | SS |
| P54763 | Ephb2 | Ephrin type-B receptor 2 | Mus musculus (Mouse) | SS |
| P54761 | Ephb4 | Ephrin type-B receptor 4 | Mus musculus (Mouse) | PR |
| O08644 | Ephb6 | Ephrin type-B receptor 6 | Mus musculus (Mouse) | PR |
| P54754 | Ephb3 | Ephrin type-B receptor 3 | Mus musculus (Mouse) | SS |
| P54757 | Epha5 | Ephrin type-A receptor 5 | Rattus norvegicus (Rat) | SS |
| P54759 | Epha7 | Ephrin type-A receptor 7 | Rattus norvegicus (Rat) | SS |
| P09759 | Ephb1 | Ephrin type-B receptor 1 | Rattus norvegicus (Rat) | SS |
| P0C0K7 | Ephb6 | Ephrin type-B receptor 6 | Rattus norvegicus (Rat) | SS |
| O08680 | Epha3 | Ephrin type-A receptor 3 | Rattus norvegicus (Rat) | SS |
| O61460 | vab-1 | Ephrin receptor 1 | Caenorhabditis elegans | SS |
| Q8RWZ5 | SD25 | G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94AG2 | SERK1 | Somatic embryogenesis receptor kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3E991 | PRK6 | Pollen receptor-like kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FXF2 | RKF1 | Probable LRR receptor-like serine/threonine-protein kinase RFK1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O73878 | ephb4b | Ephrin type-B receptor 4b | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O13146 | epha3 | Ephrin type-A receptor 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O13147 | ephb3 | Ephrin type-B receptor 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARARPPPPP | SPPPGLLPLL | PPLLLLPLLL | LPAGCRALEE | TLMDTKWVTS | ELAWTSHPES |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GWEEVSGYDE | AMNPIRTYQV | CNVRESSQNN | WLRTGFIWRR | DVQRVYVELK | FTVRDCNSIP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NIPGSCKETF | NLFYYEADSD | VASASSPFWM | ENPYVKVDTI | APDESFSRLD | AGRVNTKVRS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FGPLSKAGFY | LAFQDQGACM | SLISVRAFYK | KCASTTAGFA | LFPETLTGAE | PTSLVIAPGT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CIPNAVEVSV | PLKLYCNGDG | EWMVPVGACT | CATGHEPAAK | ESQCRPCPPG | SYKAKQGEGP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CLPCPPNSRT | TSPAASICTC | HNNFYRADSD | SADSACTTVP | SPPRGVISNV | NETSLILEWS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EPRDLGGRDD | LLYNVICKKC | HGAGGASACS | RCDDNVEFVP | RQLGLTERRV | HISHLLAHTR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YTFEVQAVNG | VSGKSPLPPR | YAAVNITTNQ | AAPSEVPTLR | LHSSSGSSLT | LSWAPPERPN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GVILDYEMKY | FEKSEGIAST | VTSQMNSVQL | DGLRPDARYV | VQVRARTVAG | YGQYSRPAEF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ETTSERGSGA | QQLQEQLPLI | VGSATAGLVF | VVAVVVIAIV | CLRKQRHGSD | SEYTEKLQQY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IAPGMKVYID | PFTYEDPNEA | VREFAKEIDV | SCVKIEEVIG | AGEFGEVCRG | RLKQPGRREV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FVAIKTLKVG | YTERQRRDFL | SEASIMGQFD | HPNIIRLEGV | VTKSRPVMIL | TEFMENCALD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SFLRLNDGQF | TVIQLVGMLR | GIAAGMKYLS | EMNYVHRDLA | ARNILVNSNL | VCKVSDFGLS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RFLEDDPSDP | TYTSSLGGKI | PIRWTAPEAI | AYRKFTSASD | VWSYGIVMWE | VMSYGERPYW |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DMSNQDVINA | VEQDYRLPPP | MDCPTALHQL | MLDCWVRDRN | LRPKFSQIVN | TLDKLIRNAA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SLKVIASAQS | GMSQPLLDRT | VPDYTTFTTV | GDWLDAIKMG | RYKESFVSAG | FASFDLVAQM |
| 970 | 980 | 990 | |||
| TAEDLLRIGV | TLAGHQKKIL | SSIQDMRLQM | NQTLPVQV |