EPHA7
EPH receptor A7
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. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs779546139 | 6:93,953,151 | T/C | — | uncertain significance |
| rs2482347515 | 6:93,953,198 | A/C | — | uncertain significance |
| rs765208949 | 6:93,953,258 | C/A | — | uncertain significance |
| rs749890930 | 6:93,955,094 | A/T | — | uncertain significance |
| rs139990635 | 6:93,955,131 | T/A | — | uncertain significance |
| rs756054614 | 6:93,955,169 | G/A | — | uncertain significance |
| rs1244617177 | 6:93,956,513 | C/G | — | uncertain significance |
| rs773680518 | 6:93,956,526 | G/C | — | uncertain significance |
| rs745373107 | 6:93,956,615 | T/G | — | uncertain significance |
| rs776802108 | 6:93,956,675 | C/T | — | uncertain significance |
| rs374547252 | 6:93,965,726 | C/A | — | uncertain significance |
| rs345730 | 6:93,967,851 | C/T | — | benign |
| rs1206527280 | 6:93,967,913 | T/C | — | uncertain significance |
| rs766734179 | 6:93,967,921 | A/G | — | uncertain significance |
| rs1316144079 | 6:93,967,963 | G/C | — | uncertain significance |
| rs768474651 | 6:93,967,964 | G/C | — | uncertain significance |
| rs571637670 | 6:93,967,976 | G/T | — | uncertain significance |
| rs1582401525 | 6:93,967,993 | C/A | — | uncertain significance |
| rs168290 | 6:93,968,162 | C/G | — | — |
| rs531906513 | 6:93,969,078 | C/A | — | uncertain significance |
| rs760600822 | 6:93,974,355 | T/C | — | uncertain significance |
| rs369029096 | 6:93,979,251 | T/C | — | uncertain significance |
| rs954614070 | 6:93,979,261 | A/G | — | uncertain significance |
| rs2127877543 | 6:93,979,281 | C/T | — | uncertain significance |
| rs1377657771 | 6:93,979,286 | C/T | — | likely benign |
| rs749473870 | 6:93,979,326 | G/A | — | uncertain significance |
| rs2482486624 | 6:93,982,041 | T/A | — | uncertain significance |
| rs779416238 | 6:93,982,095 | C/T | — | uncertain significance |
| rs138194107 | 6:93,982,121 | T/A | — | likely benign |
| rs543006888 | 6:94,005,161 | T/C | — | — |
| rs9363058 | 6:94,008,535 | C/T | intron variant | — |
| rs4707795 | 6:94,054,868 | G/A | intron variant | — |
| rs56140608 | 6:94,066,478 | G/A | — | benign |
| rs1397320389 | 6:94,066,507 | C/T | — | uncertain significance |
| rs2482887416 | 6:94,066,555 | C/T | — | uncertain significance |
| rs757264200 | 6:94,066,606 | T/C | — | uncertain significance |
| rs772199348 | 6:94,066,641 | C/A | — | uncertain significance |
| rs138769019 | 6:94,066,647 | C/T | — | benign |
| rs140214296 | 6:94,066,656 | A/G | — | uncertain significance |
| rs201390062 | 6:94,066,668 | G/C | — | uncertain significance |
| rs774694250 | 6:94,066,672 | C/T | — | uncertain significance |
| rs145247136 | 6:94,066,676 | G/C | — | uncertain significance |
| rs2482888654 | 6:94,066,710 | T/G | — | uncertain significance |
| rs1158620225 | 6:94,066,744 | T/C | — | uncertain significance |
| rs768989326 | 6:94,068,045 | C/G | — | uncertain significance |
| rs776903613 | 6:94,068,070 | T/C | — | uncertain significance |
| rs474809 | 6:94,120,192 | G/A | — | benign |
| rs2278106 | 6:94,120,219 | G/A | — | benign |
| rs990509658 | 6:94,120,228 | T/C | — | uncertain significance |
| rs772940573 | 6:94,120,459 | C/T | — | uncertain significance |
| rs2483138169 | 6:94,120,480 | C/A | — | uncertain significance |
| rs2278107 | 6:94,120,639 | T/C | missense variant | — |
| rs981923012 | 6:94,120,770 | T/C | — | uncertain significance |
| rs114504854 | 6:94,121,312 | G/A | intron variant | — |
| rs200143358 | 6:94,128,989 | G/T | — | uncertain significance |
| rs149722351 | 6:94,129,002 | G/A | — | uncertain significance |
| rs1779412241 | 6:94,129,004 | A/T | — | uncertain significance |
| rs78132896 | 6:94,130,057 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.