EPS15
epidermal growth factor receptor pathway substrate 15
Summary
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2524897993 | 1:51,822,461 | C/T | — | uncertain significance |
| rs762929521 | 1:51,822,494 | C/T | — | uncertain significance |
| rs773738862 | 1:51,822,512 | A/G | — | uncertain significance |
| rs1046245249 | 1:51,826,847 | C/T | — | uncertain significance |
| rs2524928891 | 1:51,826,848 | T/A | — | uncertain significance |
| rs1646376906 | 1:51,826,866 | T/C | — | uncertain significance |
| rs17567 | 1:51,826,921 | T/C | missense variant | — |
| rs901601410 | 1:51,826,955 | C/T | — | uncertain significance |
| rs115367873 | 1:51,826,982 | A/G | — | uncertain significance |
| rs2524944585 | 1:51,829,637 | T/C | — | uncertain significance |
| rs750872131 | 1:51,829,691 | C/G | — | uncertain significance |
| rs756747774 | 1:51,831,692 | G/A | — | uncertain significance |
| rs6673480 | 1:51,859,242 | C/G | — | — |
| rs140829740 | 1:51,864,720 | T/C | — | uncertain significance |
| rs752239932 | 1:51,864,729 | G/A | — | uncertain significance |
| rs2148413226 | 1:51,864,750 | G/A | — | uncertain significance |
| rs777257044 | 1:51,868,109 | C/T | — | uncertain significance |
| rs1203203248 | 1:51,868,158 | G/C | — | uncertain significance |
| rs772950261 | 1:51,868,164 | T/A | — | uncertain significance |
| rs1373173669 | 1:51,871,629 | T/C | — | uncertain significance |
| rs745457619 | 1:51,871,677 | T/C | — | uncertain significance |
| rs769489540 | 1:51,871,683 | G/A | — | uncertain significance |
| rs373781476 | 1:51,871,740 | T/C | — | uncertain significance |
| rs1649309379 | 1:51,873,818 | C/T | — | uncertain significance |
| rs150935900 | 1:51,873,879 | A/C | — | uncertain significance |
| rs2525231070 | 1:51,873,950 | C/T | — | uncertain significance |
| rs41292521 | 1:51,873,967 | G/A | missense variant | — |
| rs2525239612 | 1:51,875,214 | G/A | — | uncertain significance |
| rs779688592 | 1:51,875,275 | C/T | — | uncertain significance |
| rs772493039 | 1:51,875,349 | T/A | — | uncertain significance |
| rs2525299716 | 1:51,887,528 | T/C | — | uncertain significance |
| rs1452417170 | 1:51,906,098 | T/G | — | uncertain significance |
| rs754262570 | 1:51,910,605 | T/G | — | uncertain significance |
| rs757911000 | 1:51,910,611 | C/T | — | likely benign |
| rs755825082 | 1:51,910,647 | T/C | — | uncertain significance |
| rs368133150 | 1:51,910,655 | T/C | — | uncertain significance |
| rs754767920 | 1:51,912,684 | G/A | — | uncertain significance |
| rs568545144 | 1:51,921,381 | C/T | — | — |
| rs139871931 | 1:51,930,938 | C/A | — | uncertain significance |
| rs1193425574 | 1:51,930,989 | T/C | — | uncertain significance |
| rs771222334 | 1:51,934,221 | C/T | — | uncertain significance |
| rs2525537207 | 1:51,937,379 | C/T | — | uncertain significance |
| rs757458767 | 1:51,937,394 | C/G | — | uncertain significance |
| rs41292535 | 1:51,938,639 | G/T | intron variant | — |
| rs552823762 | 1:51,954,983 | G/A | — | — |
| rs189158373 | 1:51,961,025 | A/T | intron variant | — |
| rs140274886 | 1:51,984,894 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.