DEF8
differentially expressed in FDCP 8 homolog
Summary
Predicted to enable zinc ion binding activity. Predicted to be involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs559926519 | 16:90,015,397 | A/T | — | — |
| rs899153577 | 16:90,015,878 | C/T | — | likely benign |
| rs146440314 | 16:90,015,906 | C/T | — | benign |
| rs1263645629 | 16:90,015,943 | T/G | — | uncertain significance |
| rs145478578 | 16:90,015,972 | G/C | — | uncertain significance |
| rs2031584868 | 16:90,016,022 | C/T | — | uncertain significance |
| rs776768685 | 16:90,016,034 | C/T | — | uncertain significance |
| rs3803686 | 16:90,020,346 | A/C | regulatory region variant | — |
| rs776085470 | 16:90,020,691 | C/T | — | uncertain significance |
| rs553645509 | 16:90,020,731 | C/T | — | uncertain significance |
| rs7194844 | 16:90,020,745 | C/G | — | benign |
| rs767409485 | 16:90,020,772 | G/A | — | likely benign |
| rs752525579 | 16:90,020,776 | C/A | — | uncertain significance |
| rs764090698 | 16:90,020,778 | C/T | — | likely benign |
| rs372120789 | 16:90,021,616 | G/A | — | likely benign |
| rs762968402 | 16:90,021,627 | C/T | — | uncertain significance |
| rs778170975 | 16:90,021,642 | G/A | — | uncertain significance |
| rs749904744 | 16:90,023,997 | G/A | — | uncertain significance |
| rs1298883367 | 16:90,024,039 | C/T | — | uncertain significance |
| rs778609903 | 16:90,024,045 | C/T | — | uncertain significance |
| rs200998494 | 16:90,024,048 | C/T | synonymous variant | — |
| rs149889201 | 16:90,024,062 | G/A | — | benign |
| rs62052242 | 16:90,025,429 | A/G | — | uncertain significance |
| rs201718612 | 16:90,025,494 | G/A | — | uncertain significance |
| rs187891579 | 16:90,025,902 | T/C | intron variant | — |
| rs4268748 | 16:90,026,512 | T/C | intron variant | — |
| rs753840788 | 16:90,027,351 | G/A | — | uncertain significance |
| rs199561956 | 16:90,027,402 | A/G | — | uncertain significance |
| rs982354589 | 16:90,027,470 | C/T | — | uncertain significance |
| rs945185139 | 16:90,027,492 | C/T | — | uncertain significance |
| rs8063761 | 16:90,027,626 | A/T | intron variant | — |
| rs770936185 | 16:90,028,240 | G/A | — | uncertain significance |
| rs370039650 | 16:90,028,481 | G/A | — | uncertain significance |
| rs77908930 | 16:90,029,803 | G/A | — | benign |
| rs1376836801 | 16:90,029,849 | C/A | — | uncertain significance |
| rs1184827917 | 16:90,030,587 | C/T | — | uncertain significance |
| rs2544875110 | 16:90,030,636 | T/C | — | uncertain significance |
| rs144387770 | 16:90,030,641 | G/A | — | likely benign |
| rs138908537 | 16:90,030,653 | C/T | — | uncertain significance |
| rs2034426441 | 16:90,030,878 | G/A | — | uncertain significance |
| rs148949111 | 16:90,030,937 | G/A | — | uncertain significance |
| rs148084343 | 16:90,030,970 | G/A | — | uncertain significance |
| rs372503809 | 16:90,032,334 | C/T | — | uncertain significance |
| rs778189588 | 16:90,032,360 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.