ANGEL1
angel homolog 1
Summary
Enables eukaryotic initiation factor 4E binding activity and protein domain specific binding activity. Located in several cellular components, including cis-Golgi network; endoplasmic reticulum; and perinuclear region of cytoplasm. Is active in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369533516 | 14:77,255,594 | C/T | — | uncertain significance |
| rs143393016 | 14:77,255,618 | G/T | — | uncertain significance |
| rs1372811579 | 14:77,255,635 | G/C | — | uncertain significance |
| rs377664112 | 14:77,256,990 | A/G | — | uncertain significance |
| rs199611345 | 14:77,257,047 | G/A | — | uncertain significance |
| rs773645348 | 14:77,257,052 | C/T | — | likely benign |
| rs774086155 | 14:77,257,054 | C/G | — | uncertain significance |
| rs1421906409 | 14:77,257,661 | T/A | — | uncertain significance |
| rs752776943 | 14:77,257,664 | G/A | — | uncertain significance |
| rs374258511 | 14:77,257,700 | G/A | — | uncertain significance |
| rs572227838 | 14:77,269,756 | C/T | — | uncertain significance |
| rs773305756 | 14:77,270,149 | G/A | — | uncertain significance |
| rs1480880322 | 14:77,272,845 | C/T | — | uncertain significance |
| rs757430284 | 14:77,272,881 | G/C | — | uncertain significance |
| rs780674682 | 14:77,272,904 | G/A | — | uncertain significance |
| rs760429776 | 14:77,272,938 | C/T | — | uncertain significance |
| rs1316636266 | 14:77,272,962 | T/C | — | likely benign |
| rs1451624087 | 14:77,272,985 | G/T | — | uncertain significance |
| rs748563956 | 14:77,273,003 | C/T | — | uncertain significance |
| rs745454636 | 14:77,273,019 | C/T | — | uncertain significance |
| rs140703941 | 14:77,273,025 | G/C | — | uncertain significance |
| rs370461309 | 14:77,273,109 | G/C | — | uncertain significance |
| rs141369993 | 14:77,273,115 | G/A | — | uncertain significance |
| rs766554523 | 14:77,273,141 | G/C | — | uncertain significance |
| rs2503171467 | 14:77,273,144 | C/G | — | uncertain significance |
| rs1894951846 | 14:77,273,782 | T/A | — | uncertain significance |
| rs1459629495 | 14:77,274,278 | T/C | — | uncertain significance |
| rs781341904 | 14:77,274,308 | C/T | — | uncertain significance |
| rs200860513 | 14:77,274,320 | T/C | — | uncertain significance |
| rs2503175511 | 14:77,274,490 | T/G | — | uncertain significance |
| rs143581712 | 14:77,275,455 | G/A | — | uncertain significance |
| rs759068131 | 14:77,275,573 | C/T | — | uncertain significance |
| rs540780735 | 14:77,275,590 | G/A | — | uncertain significance |
| rs760685689 | 14:77,275,704 | T/C | — | uncertain significance |
| rs745463422 | 14:77,275,788 | T/C | — | uncertain significance |
| rs1305797396 | 14:77,275,825 | C/G | — | uncertain significance |
| rs150819564 | 14:77,275,849 | C/A | — | uncertain significance |
| rs139554238 | 14:77,275,857 | C/T | — | uncertain significance |
| rs748836721 | 14:77,275,903 | G/A | — | uncertain significance |
| rs1391545305 | 14:77,275,938 | G/A | — | uncertain significance |
| rs536365907 | 14:77,279,118 | C/T | — | uncertain significance |
| rs772449890 | 14:77,279,127 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.