AGER
advanced glycosylation end-product specific receptor
Summary
The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376556772 | 6:32,148,958 | C/T | — | uncertain significance |
| rs370335494 | 6:32,148,970 | T/G | — | uncertain significance |
| rs1332735215 | 6:32,149,011 | G/A | — | likely benign |
| rs181811810 | 6:32,149,065 | C/T | downstream gene variant | — |
| rs3176931 | 6:32,149,140 | C/T | — | benign |
| rs143357175 | 6:32,149,219 | G/A | — | benign |
| rs2071288 | 6:32,149,260 | C/T | splice region variant | uncertain significance |
| rs1162823369 | 6:32,149,399 | C/T | — | likely benign |
| rs55640627 | 6:32,149,756 | C/G | — | — |
| rs9391855 | 6:32,149,801 | C/T | downstream gene variant | — |
| rs3134940 | 6:32,149,816 | T/C | downstream gene variant | likely risk allele |
| rs77170610 | 6:32,150,047 | C/T | — | benign |
| rs138186526 | 6:32,150,063 | C/T | — | likely benign |
| rs1786360349 | 6:32,150,068 | C/A | — | uncertain significance |
| rs1391153880 | 6:32,150,074 | T/C | — | uncertain significance |
| rs138178120 | 6:32,150,086 | C/G | — | conflicting classifications of pathogenicity |
| rs201967398 | 6:32,150,110 | G/A | — | uncertain significance |
| rs1194395987 | 6:32,150,116 | A/G | — | uncertain significance |
| rs948481571 | 6:32,150,122 | G/C | — | uncertain significance |
| rs566837079 | 6:32,150,146 | G/A | — | uncertain significance |
| rs764105620 | 6:32,150,162 | C/T | — | likely benign |
| rs184003 | 6:32,150,296 | C/A | regulatory region variant | uncertain significance |
| rs140930365 | 6:32,150,356 | A/T | — | conflicting classifications of pathogenicity |
| rs201178949 | 6:32,150,385 | A/T | — | uncertain significance |
| rs772300820 | 6:32,150,404 | C/T | — | uncertain significance |
| rs766692052 | 6:32,150,413 | C/T | — | uncertain significance |
| rs150282885 | 6:32,150,430 | C/T | — | uncertain significance |
| rs1582710968 | 6:32,150,484 | T/G | — | likely benign |
| rs766191033 | 6:32,150,656 | C/T | — | uncertain significance |
| rs1369648421 | 6:32,150,771 | G/A | — | uncertain significance |
| rs1340132310 | 6:32,150,924 | A/C | — | uncertain significance |
| rs1035798 | 6:32,151,222 | G/A | downstream gene variant | — |
| rs771797821 | 6:32,151,388 | T/A | — | uncertain significance |
| rs35795092 | 6:32,151,420 | G/A | synonymous variant | — |
| rs2070600 | 6:32,151,443 | C/T | missense variant | uncertain significance |
| rs375871446 | 6:32,151,444 | G/A | — | likely benign |
| rs1044599245 | 6:32,151,445 | T/C | — | uncertain significance |
| rs80096349 | 6:32,151,458 | G/A | — | benign |
| rs769914792 | 6:32,151,479 | C/T | — | uncertain significance |
| rs748270365 | 6:32,151,499 | A/C | — | uncertain significance |
| rs766743440 | 6:32,151,518 | G/A | — | uncertain significance |
| rs890847537 | 6:32,151,526 | T/C | — | uncertain significance |
| rs759897223 | 6:32,151,679 | G/A | — | likely benign |
| rs201829223 | 6:32,151,703 | A/C | — | uncertain significance |
| rs1034066092 | 6:32,151,729 | T/C | — | uncertain significance |
| rs769151684 | 6:32,151,990 | C/T | — | uncertain significance |
| rs1800624 | 6:32,152,387 | A/T | downstream gene variant | — |
| rs1800625 | 6:32,152,442 | A/G | downstream gene variant | — |
| rs169504 | 6:32,153,406 | C/A | coding sequence variant | — |
| rs1004095 | 6:32,153,409 | A/C | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.