EPHB1
EPH receptor B1
Summary
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. 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. The Eph family of 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. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1428579099 | 3:134,514,526 | T/C | — | uncertain significance |
| rs3732568 | 3:134,515,336 | T/C | — | — |
| rs187100997 | 3:134,556,204 | C/T | intron variant | — |
| rs180791941 | 3:134,608,969 | A/T | intron variant | — |
| rs370590244 | 3:134,644,680 | G/A | — | likely benign |
| rs556035012 | 3:134,644,715 | C/T | — | uncertain significance |
| rs72971655 | 3:134,645,960 | G/C | intron variant | — |
| rs40157 | 3:134,648,118 | A/C | intron variant | — |
| rs570486050 | 3:134,649,578 | C/G | — | — |
| rs11929692 | 3:134,669,965 | G/A | intron variant | — |
| rs1449079060 | 3:134,670,358 | G/A | — | uncertain significance |
| rs7644369 | 3:134,670,524 | C/T | synonymous variant | — |
| rs2529099388 | 3:134,670,568 | C/G | — | uncertain significance |
| rs2529099442 | 3:134,670,612 | C/T | — | uncertain significance |
| rs769719088 | 3:134,670,633 | G/A | — | uncertain significance |
| rs1369940583 | 3:134,670,679 | C/A | — | uncertain significance |
| rs1933045233 | 3:134,670,731 | G/C | — | uncertain significance |
| rs752494038 | 3:134,670,754 | G/A | — | uncertain significance |
| rs199924359 | 3:134,670,765 | A/G | — | uncertain significance |
| rs4955530 | 3:134,689,420 | C/T | — | — |
| rs67294685 | 3:134,707,570 | C/T | intron variant | — |
| rs2030737 | 3:134,809,377 | C/T | intron variant | — |
| rs761687482 | 3:134,825,359 | G/A | — | uncertain significance |
| rs377348490 | 3:134,851,685 | G/A | — | uncertain significance |
| rs370911769 | 3:134,851,779 | C/A | — | uncertain significance |
| rs200876961 | 3:134,851,802 | C/T | — | uncertain significance |
| rs767929800 | 3:134,851,846 | T/C | — | uncertain significance |
| rs372455013 | 3:134,851,861 | G/A | — | uncertain significance |
| rs3821505 | 3:134,856,297 | G/A | — | — |
| rs201012406 | 3:134,873,008 | C/T | — | uncertain significance |
| rs200172177 | 3:134,880,891 | G/A | — | uncertain significance |
| rs1005169615 | 3:134,881,002 | G/A | — | uncertain significance |
| rs56372452 | 3:134,884,880 | C/G | — | uncertain significance |
| rs192495343 | 3:134,884,907 | C/T | — | benign |
| rs774713350 | 3:134,898,702 | G/C | — | uncertain significance |
| rs778136807 | 3:134,911,522 | C/T | — | uncertain significance |
| rs375102539 | 3:134,911,549 | A/G | — | uncertain significance |
| rs368515643 | 3:134,911,573 | A/T | — | uncertain significance |
| rs6776570 | 3:134,911,917 | A/T | — | — |
| rs3821502 | 3:134,912,567 | A/G | intron variant | — |
| rs6766459 | 3:134,916,043 | G/T | intron variant | — |
| rs2529424288 | 3:134,920,334 | A/G | — | uncertain significance |
| rs778449715 | 3:134,920,365 | G/T | — | uncertain significance |
| rs2529424826 | 3:134,920,515 | C/T | — | uncertain significance |
| rs142169265 | 3:134,954,123 | C/T | intron variant | — |
| rs748523036 | 3:134,967,159 | T/C | — | uncertain significance |
| rs143367042 | 3:134,967,172 | C/T | — | likely benign |
| rs1559890725 | 3:134,967,259 | C/A | — | uncertain significance |
| rs534330476 | 3:134,967,276 | C/T | — | uncertain significance |
| rs768204306 | 3:134,967,279 | A/G | — | uncertain significance |
| rs555755621 | 3:134,967,282 | T/C | — | uncertain significance |
| rs1422590121 | 3:134,967,304 | G/A | — | uncertain significance |
| rs904442404 | 3:134,967,315 | C/T | — | uncertain significance |
| rs749600936 | 3:134,967,347 | G/A | — | uncertain significance |
| rs746236958 | 3:134,968,189 | C/T | — | uncertain significance |
| rs755457534 | 3:134,968,269 | T/C | — | uncertain significance |
| rs202203163 | 3:134,973,085 | A/G | — | — |
| rs377481824 | 3:134,973,970 | G/A | — | — |
| rs756806407 | 3:134,977,937 | G/A | — | uncertain significance |
| rs16842880 | 3:134,977,950 | G/A | — | benign |
| rs1324574213 | 3:134,977,952 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.