EPHA5
EPH receptor A5
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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200525613 | 4:66,189,846 | T/A | — | uncertain significance |
| rs139793674 | 4:66,189,849 | C/T | — | uncertain significance |
| rs1203055827 | 4:66,189,909 | C/T | — | uncertain significance |
| rs200305031 | 4:66,197,824 | G/C | — | uncertain significance |
| rs1035072891 | 4:66,213,783 | T/A | — | uncertain significance |
| rs2148842237 | 4:66,213,831 | C/T | — | uncertain significance |
| rs1363376793 | 4:66,213,906 | T/C | — | uncertain significance |
| rs13434839 | 4:66,218,756 | C/T | — | benign |
| rs773082683 | 4:66,218,783 | C/A | — | uncertain significance |
| rs57103842 | 4:66,230,727 | A/T | — | benign |
| rs751133102 | 4:66,230,770 | G/A | — | uncertain significance |
| rs780968976 | 4:66,230,894 | G/A | — | uncertain significance |
| rs766091341 | 4:66,231,674 | T/A | — | uncertain significance |
| rs56359290 | 4:66,231,683 | A/T | — | likely benign |
| rs781162980 | 4:66,231,693 | C/A | — | uncertain significance |
| rs35363653 | 4:66,231,699 | A/G | — | benign |
| rs748516205 | 4:66,233,085 | A/T | — | uncertain significance |
| rs2148896584 | 4:66,233,135 | C/T | — | uncertain significance |
| rs10033587 | 4:66,239,196 | C/T | intron variant | — |
| rs1054488637 | 4:66,242,777 | A/C | — | uncertain significance |
| rs10019169 | 4:66,244,543 | T/C | — | — |
| rs1057520012 | 4:66,270,137 | C/T | missense variant | — |
| rs77407591 | 4:66,280,107 | C/G | — | benign |
| rs913936917 | 4:66,280,118 | G/A | — | uncertain significance |
| rs780288067 | 4:66,286,263 | C/T | — | uncertain significance |
| rs143584300 | 4:66,286,274 | G/A | — | uncertain significance |
| rs770587480 | 4:66,356,200 | C/A | — | uncertain significance |
| rs1014130945 | 4:66,356,214 | A/G | — | uncertain significance |
| rs775641244 | 4:66,356,390 | A/T | — | uncertain significance |
| rs1158129685 | 4:66,361,120 | G/C | — | uncertain significance |
| rs200932017 | 4:66,361,129 | T/C | — | uncertain significance |
| rs776252545 | 4:66,361,177 | G/C | — | uncertain significance |
| rs2545579370 | 4:66,361,180 | T/C | — | uncertain significance |
| rs1731836712 | 4:66,361,198 | T/C | — | uncertain significance |
| rs375878596 | 4:66,361,214 | C/T | — | likely benign |
| rs190728431 | 4:66,414,620 | G/A | intron variant | — |
| rs4860687 | 4:66,433,737 | T/A | — | — |
| rs28455852 | 4:66,446,349 | G/A | regulatory region variant | — |
| rs11131601 | 4:66,450,520 | T/G | intron variant | — |
| rs4458506 | 4:66,452,604 | A/G | intron variant | — |
| rs147719164 | 4:66,467,556 | C/T | — | uncertain significance |
| rs55983743 | 4:66,467,732 | G/A | — | benign |
| rs769732424 | 4:66,467,754 | A/T | — | uncertain significance |
| rs151252926 | 4:66,467,801 | A/T | — | uncertain significance |
| rs4404602 | 4:66,470,813 | T/G | — | — |
| rs60178806 | 4:66,480,994 | T/C | — | — |
| rs74944857 | 4:66,496,914 | G/T | intron variant | — |
| rs6838677 | 4:66,520,667 | A/T | — | — |
| rs68163133 | 4:66,533,880 | G/T | regulatory region variant | — |
| rs1030234143 | 4:66,535,313 | G/A | — | uncertain significance |
| rs758755197 | 4:66,535,361 | C/T | — | uncertain significance |
| rs2149571503 | 4:66,535,370 | A/C | — | uncertain significance |
| rs1197560367 | 4:66,535,420 | G/T | — | uncertain significance |
| rs765397027 | 4:66,535,445 | G/A | — | uncertain significance |
| rs758663274 | 4:66,535,451 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.