EPHA3
EPH receptor A3
Summary
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201110271 | 3:89,156,947 | G/C | — | uncertain significance |
| rs200437524 | 3:89,156,970 | G/T | — | likely benign |
| rs139262347 | 3:89,176,405 | C/G | — | uncertain significance |
| rs537025827 | 3:89,259,194 | T/C | — | uncertain significance |
| rs2107182688 | 3:89,259,424 | G/A | — | uncertain significance |
| rs1413376820 | 3:89,259,487 | A/G | — | uncertain significance |
| rs758441001 | 3:89,259,554 | A/G | — | uncertain significance |
| rs150099876 | 3:89,259,600 | C/T | — | benign |
| rs145483821 | 3:89,344,540 | T/G | — | — |
| rs182691254 | 3:89,390,092 | T/C | — | likely benign |
| rs142109561 | 3:89,390,143 | G/C | — | likely benign |
| rs148593404 | 3:89,390,170 | G/A | — | uncertain significance |
| rs773454441 | 3:89,391,024 | A/C | — | uncertain significance |
| rs200415022 | 3:89,391,064 | G/A | — | uncertain significance |
| rs530556931 | 3:89,391,214 | C/T | — | uncertain significance |
| rs56112995 | 3:89,391,215 | G/A | — | likely benign |
| rs9836340 | 3:89,405,754 | A/G | intron variant | — |
| rs112239794 | 3:89,445,005 | C/T | — | uncertain significance |
| rs537923825 | 3:89,445,091 | G/C | — | uncertain significance |
| rs1276953163 | 3:89,448,461 | C/T | — | likely benign |
| rs150469112 | 3:89,448,610 | A/T | — | uncertain significance |
| rs56330723 | 3:89,456,450 | G/A | — | likely benign |
| rs371462790 | 3:89,456,472 | G/C | — | uncertain significance |
| rs536008328 | 3:89,456,515 | T/C | — | uncertain significance |
| rs778106353 | 3:89,457,276 | G/A | — | uncertain significance |
| rs567496673 | 3:89,462,296 | C/T | — | uncertain significance |
| rs534679111 | 3:89,462,303 | G/A | — | uncertain significance |
| rs61733120 | 3:89,462,317 | G/A | — | likely benign |
| rs35968370 | 3:89,466,339 | A/T | intron variant | — |
| rs754102338 | 3:89,468,381 | C/A | — | uncertain significance |
| rs138119313 | 3:89,468,410 | T/C | — | likely benign |
| rs779822883 | 3:89,468,420 | A/C | — | uncertain significance |
| rs748606864 | 3:89,468,469 | T/C | — | uncertain significance |
| rs372257039 | 3:89,468,517 | G/A | — | uncertain significance |
| rs1225397244 | 3:89,478,268 | T/C | — | uncertain significance |
| rs777211567 | 3:89,478,315 | C/T | — | uncertain significance |
| rs199630398 | 3:89,480,301 | A/C | — | likely benign |
| rs146856660 | 3:89,480,438 | G/A | — | uncertain significance |
| rs34437982 | 3:89,480,493 | C/G | — | benign |
| rs6771054 | 3:89,489,529 | T/G | — | — |
| rs1398197 | 3:89,498,428 | G/A | — | benign |
| rs73139269 | 3:89,498,430 | T/A | — | likely benign |
| rs142030914 | 3:89,499,366 | C/G | — | uncertain significance |
| rs145084709 | 3:89,499,479 | G/A | — | likely benign |
| rs373736475 | 3:89,499,486 | G/T | — | uncertain significance |
| rs141716319 | 3:89,499,514 | C/T | — | uncertain significance |
| rs76565471 | 3:89,499,515 | C/T | — | benign |
| rs1512183 | 3:89,505,054 | A/T | intron variant | — |
| rs73846185 | 3:89,521,644 | T/C | — | benign |
| rs2472121799 | 3:89,521,703 | A/G | — | uncertain significance |
| rs1054750 | 3:89,521,725 | T/C | — | benign |
| rs12636275 | 3:89,523,038 | C/T | — | — |
| rs73139125 | 3:89,524,056 | A/G | intron variant | — |
| rs73139135 | 3:89,527,937 | T/C | intron variant | — |
| rs762601076 | 3:89,528,572 | G/A | — | uncertain significance |
| rs755942381 | 3:89,528,624 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.