EPHA8
EPH receptor A8
Summary
This gene encodes a member of 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. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]
Known Variants95 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs763862668 | 1:22,895,808 | C/T | — | uncertain significance |
| rs45498698 | 1:22,895,820 | G/A | missense variant | — |
| rs2273099 | 1:22,895,998 | T/A | intron variant | — |
| rs2523170068 | 1:22,902,780 | G/A | — | uncertain significance |
| rs376900516 | 1:22,902,789 | A/G | — | uncertain significance |
| rs150553424 | 1:22,902,827 | G/A | — | uncertain significance |
| rs148164803 | 1:22,902,854 | A/C | — | uncertain significance |
| rs764624482 | 1:22,902,899 | A/C | — | uncertain significance |
| rs2124520469 | 1:22,902,941 | C/T | — | uncertain significance |
| rs777812539 | 1:22,902,953 | G/T | — | uncertain significance |
| rs2523171599 | 1:22,902,983 | A/C | — | uncertain significance |
| rs760851429 | 1:22,902,992 | A/G | — | uncertain significance |
| rs1025510947 | 1:22,902,998 | G/A | — | uncertain significance |
| rs199987810 | 1:22,903,010 | T/C | — | uncertain significance |
| rs753237688 | 1:22,903,101 | C/T | — | uncertain significance |
| rs1640712921 | 1:22,903,179 | A/G | — | uncertain significance |
| rs56193119 | 1:22,903,181 | T/C | — | likely benign |
| rs372232524 | 1:22,903,256 | C/G | — | uncertain significance |
| rs202149500 | 1:22,903,268 | C/T | — | uncertain significance |
| rs761554734 | 1:22,903,292 | A/G | — | uncertain significance |
| rs2523175002 | 1:22,903,302 | G/T | — | uncertain significance |
| rs368167619 | 1:22,903,310 | C/G | — | uncertain significance |
| rs139777546 | 1:22,903,356 | G/A | — | uncertain significance |
| rs761987517 | 1:22,913,093 | G/A | — | uncertain significance |
| rs1268297144 | 1:22,915,373 | C/T | — | uncertain significance |
| rs769701249 | 1:22,915,405 | G/T | — | uncertain significance |
| rs369589341 | 1:22,915,477 | G/A | — | uncertain significance |
| rs1250156610 | 1:22,915,498 | G/A | — | uncertain significance |
| rs918958008 | 1:22,915,517 | C/T | — | uncertain significance |
| rs769118581 | 1:22,915,528 | G/A | — | uncertain significance |
| rs767106998 | 1:22,915,557 | C/A | — | uncertain significance |
| rs543209822 | 1:22,915,642 | G/A | — | uncertain significance |
| rs774280016 | 1:22,919,843 | G/A | — | uncertain significance |
| rs374661974 | 1:22,919,852 | G/A | — | uncertain significance |
| rs756827993 | 1:22,919,899 | C/T | — | uncertain significance |
| rs754845150 | 1:22,920,031 | G/T | — | uncertain significance |
| rs55964751 | 1:22,920,100 | T/C | — | benign |
| rs757390422 | 1:22,920,119 | C/T | — | uncertain significance |
| rs1641487456 | 1:22,921,792 | T/C | — | uncertain significance |
| rs374833210 | 1:22,922,645 | A/T | — | uncertain significance |
| rs773202551 | 1:22,922,648 | C/T | — | uncertain significance |
| rs376737470 | 1:22,922,655 | A/C | — | uncertain significance |
| rs146789326 | 1:22,922,673 | G/T | — | likely benign |
| rs771963113 | 1:22,923,858 | C/A | — | uncertain significance |
| rs758235140 | 1:22,923,903 | G/A | — | uncertain significance |
| rs1357841927 | 1:22,923,918 | A/G | — | uncertain significance |
| rs781568823 | 1:22,923,921 | C/T | — | uncertain significance |
| rs376201963 | 1:22,923,924 | G/C | — | uncertain significance |
| rs1157918295 | 1:22,924,182 | A/C | — | uncertain significance |
| rs2523290179 | 1:22,924,210 | G/A | — | uncertain significance |
| rs747383112 | 1:22,924,217 | G/A | — | uncertain significance |
| rs368786183 | 1:22,924,234 | A/C | — | uncertain significance |
| rs750521094 | 1:22,924,259 | C/A | — | uncertain significance |
| rs557674245 | 1:22,924,273 | C/T | — | uncertain significance |
| rs1360246232 | 1:22,924,291 | G/A | — | uncertain significance |
| rs758537106 | 1:22,924,331 | G/A | — | uncertain significance |
| rs140243523 | 1:22,924,352 | G/A | — | uncertain significance |
| rs62642537 | 1:22,924,646 | C/T | — | benign |
| rs200414318 | 1:22,925,324 | C/T | — | likely benign |
| rs1641595652 | 1:22,925,352 | A/G | — | uncertain significance |
| rs980221016 | 1:22,925,358 | C/G | — | uncertain significance |
| rs1469581961 | 1:22,925,371 | T/C | — | uncertain significance |
| rs138538362 | 1:22,925,379 | G/A | — | uncertain significance |
| rs147240669 | 1:22,925,397 | C/T | — | uncertain significance |
| rs757176752 | 1:22,925,428 | G/A | — | uncertain significance |
| rs531451396 | 1:22,925,442 | C/G | — | uncertain significance |
| rs747216998 | 1:22,925,443 | G/A | — | uncertain significance |
| rs1641603782 | 1:22,925,517 | C/G | — | uncertain significance |
| rs774731033 | 1:22,925,539 | C/T | — | uncertain significance |
| rs372280342 | 1:22,927,179 | C/T | — | uncertain significance |
| rs775378376 | 1:22,927,202 | C/T | — | uncertain significance |
| rs745323533 | 1:22,927,255 | G/A | — | likely benign |
| rs144705335 | 1:22,927,275 | G/A | — | uncertain significance |
| rs1641701860 | 1:22,927,297 | C/G | — | uncertain significance |
| rs761988321 | 1:22,927,299 | G/A | — | uncertain significance |
| rs209702 | 1:22,927,314 | G/A | — | benign |
| rs149877319 | 1:22,927,419 | G/A | — | uncertain significance |
| rs755951383 | 1:22,927,469 | G/A | — | uncertain significance |
| rs1195008074 | 1:22,927,482 | A/G | — | uncertain significance |
| rs62618734 | 1:22,927,503 | A/G | — | likely benign |
| rs142726625 | 1:22,927,568 | G/T | — | uncertain significance |
| rs571732433 | 1:22,927,800 | C/T | — | uncertain significance |
| rs141279306 | 1:22,927,816 | G/A | — | uncertain significance |
| rs753756295 | 1:22,927,828 | A/G | — | uncertain significance |
| rs1019169249 | 1:22,927,866 | G/A | — | uncertain significance |
| rs752835457 | 1:22,927,899 | C/T | — | uncertain significance |
| rs146237497 | 1:22,927,900 | G/A | — | uncertain significance |
| rs990213044 | 1:22,927,926 | G/A | — | uncertain significance |
| rs148692719 | 1:22,928,124 | G/A | — | uncertain significance |
| rs139543017 | 1:22,928,128 | G/A | — | uncertain significance |
| rs150964144 | 1:22,928,138 | C/T | — | benign |
| rs2523316713 | 1:22,928,159 | G/C | — | uncertain significance |
| rs781000303 | 1:22,928,220 | C/T | — | uncertain significance |
| rs370302532 | 1:22,928,223 | C/T | — | uncertain significance |
| rs374170042 | 1:22,928,224 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.