EMILIN3
elastin microfibril interfacer 3
Summary
Enables identical protein binding activity. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1238677304 | 20:39,989,916 | C/T | — | uncertain significance |
| rs199725822 | 20:39,989,918 | T/G | — | uncertain significance |
| rs147157827 | 20:39,989,927 | C/T | — | uncertain significance |
| rs753972634 | 20:39,989,970 | C/G | — | uncertain significance |
| rs567452233 | 20:39,990,011 | C/T | — | uncertain significance |
| rs201529358 | 20:39,990,012 | G/A | — | uncertain significance |
| rs779429938 | 20:39,990,134 | C/T | — | uncertain significance |
| rs140396405 | 20:39,990,315 | C/T | — | uncertain significance |
| rs200532354 | 20:39,990,324 | C/T | — | uncertain significance |
| rs11557909 | 20:39,990,371 | A/G | — | likely benign |
| rs949345254 | 20:39,990,491 | G/A | — | uncertain significance |
| rs2515759072 | 20:39,990,516 | C/T | — | uncertain significance |
| rs764125854 | 20:39,990,524 | T/C | — | uncertain significance |
| rs866307238 | 20:39,990,564 | G/A | — | uncertain significance |
| rs151073469 | 20:39,990,580 | C/T | — | likely benign |
| rs370714855 | 20:39,990,710 | C/T | — | uncertain significance |
| rs756572618 | 20:39,990,732 | C/T | — | likely benign |
| rs150314346 | 20:39,990,770 | C/T | — | uncertain significance |
| rs774062953 | 20:39,990,789 | C/G | — | uncertain significance |
| rs199632473 | 20:39,990,791 | C/T | — | uncertain significance |
| rs2235591 | 20:39,990,833 | C/G | — | uncertain significance |
| rs370016068 | 20:39,990,837 | T/A | — | uncertain significance |
| rs780628771 | 20:39,990,867 | C/T | — | uncertain significance |
| rs374455591 | 20:39,990,881 | T/C | — | uncertain significance |
| rs144234117 | 20:39,990,887 | G/A | — | likely benign |
| rs749958998 | 20:39,990,992 | G/T | — | uncertain significance |
| rs751299858 | 20:39,991,028 | C/T | — | uncertain significance |
| rs2515760179 | 20:39,991,040 | A/G | — | uncertain significance |
| rs370261387 | 20:39,991,118 | T/C | — | likely benign |
| rs137927451 | 20:39,991,136 | C/T | — | uncertain significance |
| rs769383948 | 20:39,991,148 | C/T | — | uncertain significance |
| rs2515760602 | 20:39,991,254 | A/G | — | uncertain significance |
| rs563532081 | 20:39,991,290 | G/A | — | uncertain significance |
| rs1411880278 | 20:39,991,302 | A/T | — | uncertain significance |
| rs763128282 | 20:39,991,350 | G/A | — | uncertain significance |
| rs933841080 | 20:39,991,413 | C/A | — | uncertain significance |
| rs142231817 | 20:39,991,521 | G/C | — | uncertain significance |
| rs2046373617 | 20:39,991,547 | G/A | — | uncertain significance |
| rs149875541 | 20:39,991,635 | G/A | — | uncertain significance |
| rs146469782 | 20:39,991,656 | G/A | — | uncertain significance |
| rs573066326 | 20:39,991,665 | G/A | — | uncertain significance |
| rs770459148 | 20:39,992,279 | A/C | — | uncertain significance |
| rs779941701 | 20:39,992,322 | C/T | — | uncertain significance |
| rs371222477 | 20:39,992,329 | C/T | — | uncertain significance |
| rs2046379666 | 20:39,992,346 | A/T | — | uncertain significance |
| rs763812103 | 20:39,992,389 | C/T | — | uncertain significance |
| rs143410015 | 20:39,992,409 | C/T | — | uncertain significance |
| rs148373380 | 20:39,992,437 | G/A | — | uncertain significance |
| rs367929699 | 20:39,992,455 | C/T | — | uncertain significance |
| rs147035485 | 20:39,992,460 | T/A | — | uncertain significance |
| rs766348606 | 20:39,992,469 | A/G | — | uncertain significance |
| rs1313226057 | 20:39,993,685 | C/T | — | uncertain significance |
| rs750502163 | 20:39,993,715 | G/A | — | uncertain significance |
| rs750463260 | 20:39,993,797 | C/A | — | uncertain significance |
| rs746883941 | 20:39,995,120 | G/C | — | uncertain significance |
| rs1244588097 | 20:39,995,142 | C/T | — | uncertain significance |
| rs2515763991 | 20:39,995,147 | G/A | — | uncertain significance |
| rs2515764188 | 20:39,995,240 | G/T | — | uncertain significance |
| rs143186028 | 20:39,997,404 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.