EFNA3
ephrin A3
Summary
This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. [provided by RefSeq, Jul 2008]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs558759582 | 1:155,051,458 | C/T | missense variant | — |
| rs2526486721 | 1:155,051,470 | T/A | — | uncertain significance |
| rs2526486995 | 1:155,051,544 | C/T | — | uncertain significance |
| rs3766918 | 1:155,057,499 | A/C | — | — |
| rs777086374 | 1:155,057,571 | C/T | — | uncertain significance |
| rs766023094 | 1:155,057,609 | C/G | — | uncertain significance |
| rs2526499765 | 1:155,057,643 | T/G | — | uncertain significance |
| rs867240605 | 1:155,057,668 | C/T | — | uncertain significance |
| rs201029831 | 1:155,057,677 | G/C | — | uncertain significance |
| rs2526500274 | 1:155,057,787 | C/T | — | uncertain significance |
| rs77832800 | 1:155,057,837 | T/G | — | benign |
| rs2526502682 | 1:155,058,413 | C/T | — | uncertain significance |
| rs751001269 | 1:155,058,416 | C/A | — | uncertain significance |
| rs2526504062 | 1:155,058,672 | A/G | — | uncertain significance |
| rs201905030 | 1:155,058,957 | C/T | — | uncertain significance |
| rs1663464732 | 1:155,058,958 | G/A | — | uncertain significance |
| rs200827058 | 1:155,058,969 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.