AGO1
argonaute RISC component 1
Summary
This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]
Known Variants83 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1458276516 | 1:36,349,054 | G/A | — | benign |
| rs140869088 | 1:36,354,035 | C/T | — | likely benign |
| rs779432389 | 1:36,354,075 | C/G | — | uncertain significance |
| rs1389168609 | 1:36,354,079 | G/A | — | uncertain significance |
| rs143228790 | 1:36,354,167 | C/T | — | benign |
| rs74665168 | 1:36,354,185 | G/A | — | benign |
| rs748561732 | 1:36,358,783 | G/T | — | uncertain significance |
| rs140048484 | 1:36,358,799 | C/G | — | benign |
| rs780052272 | 1:36,358,809 | G/A | — | uncertain significance |
| rs146336392 | 1:36,358,832 | G/A | — | likely benign |
| rs2523838519 | 1:36,358,863 | C/T | — | uncertain significance |
| rs2523840205 | 1:36,359,274 | G/A | — | uncertain significance |
| rs2523840241 | 1:36,359,283 | C/T | — | uncertain significance |
| rs2523840317 | 1:36,359,300 | T/C | — | uncertain significance |
| rs1553154069 | 1:36,359,328 | C/T | — | likely pathogenic |
| rs1645264815 | 1:36,359,331 | T/G | — | pathogenic |
| rs2148711374 | 1:36,359,345 | G/A | — | likely pathogenic |
| rs2148711380 | 1:36,359,353 | G/T | — | uncertain significance |
| rs2148711383 | 1:36,359,357 | G/A | — | pathogenic |
| rs1385468503 | 1:36,359,376 | G/T | — | uncertain significance |
| rs1415969084 | 1:36,359,406 | T/C | — | uncertain significance |
| rs1645271555 | 1:36,359,636 | A/G | — | pathogenic |
| rs2296470 | 1:36,359,669 | A/G | — | benign |
| rs1422475379 | 1:36,359,727 | C/A | — | uncertain significance |
| rs1470621142 | 1:36,359,734 | C/T | — | uncertain significance |
| rs780175783 | 1:36,359,735 | G/A | — | likely benign |
| rs1645273962 | 1:36,359,746 | G/A | — | uncertain significance |
| rs1645274152 | 1:36,359,748 | G/A | — | uncertain significance |
| rs769226315 | 1:36,359,753 | C/T | — | likely benign |
| rs2523842348 | 1:36,359,772 | G/A | — | uncertain significance |
| rs1645274452 | 1:36,359,773 | G/A | — | uncertain significance |
| rs1645279588 | 1:36,359,984 | C/T | — | uncertain significance |
| rs2148712287 | 1:36,360,757 | G/A | — | uncertain significance |
| rs1306020581 | 1:36,360,763 | A/G | — | uncertain significance |
| rs149082767 | 1:36,360,864 | C/G | — | likely benign |
| rs636832 | 1:36,363,475 | G/C | — | — |
| rs2523866868 | 1:36,367,127 | A/G | — | conflicting classifications of pathogenicity |
| rs2148715372 | 1:36,367,165 | C/T | — | uncertain significance |
| rs754699172 | 1:36,367,189 | C/T | — | uncertain significance |
| rs2523867145 | 1:36,367,190 | G/A | — | uncertain significance |
| rs2148715578 | 1:36,367,568 | A/T | — | uncertain significance |
| rs72661614 | 1:36,367,581 | C/T | — | likely benign |
| rs2523869090 | 1:36,367,617 | G/A | — | uncertain significance |
| rs2148715621 | 1:36,367,625 | T/C | — | uncertain significance |
| rs544024909 | 1:36,367,646 | C/T | — | uncertain significance |
| rs1472015606 | 1:36,367,651 | A/G | — | uncertain significance |
| rs2523869404 | 1:36,367,657 | C/A | — | likely pathogenic |
| rs61751003 | 1:36,367,665 | C/T | — | likely benign |
| rs2523871196 | 1:36,367,895 | G/A | — | likely pathogenic |
| rs2523871264 | 1:36,367,917 | A/G | — | uncertain significance |
| rs2523887409 | 1:36,372,544 | C/G | — | uncertain significance |
| rs2148718885 | 1:36,372,574 | C/T | — | uncertain significance |
| rs368806171 | 1:36,372,620 | G/A | — | likely benign |
| rs764770945 | 1:36,372,650 | G/T | — | likely benign |
| rs2523888155 | 1:36,372,712 | C/T | — | uncertain significance |
| rs645383 | 1:36,373,823 | C/G | intron variant | — |
| rs780324190 | 1:36,379,459 | C/T | — | likely benign |
| rs2523916085 | 1:36,379,497 | A/G | — | uncertain significance |
| rs1645687616 | 1:36,379,523 | C/G | — | uncertain significance |
| rs139495925 | 1:36,379,558 | T/C | — | likely benign |
| rs2148723245 | 1:36,379,844 | C/T | — | uncertain significance |
| rs148568098 | 1:36,381,038 | C/G | — | likely benign |
| rs147571046 | 1:36,381,095 | C/T | — | likely benign |
| rs896742034 | 1:36,383,207 | A/T | — | uncertain significance |
| rs7512720 | 1:36,383,253 | C/T | — | likely benign |
| rs138262926 | 1:36,383,277 | G/A | — | likely benign |
| rs2148725216 | 1:36,383,287 | C/T | — | uncertain significance |
| rs2523930403 | 1:36,383,294 | A/T | — | uncertain significance |
| rs2523930416 | 1:36,383,297 | C/T | — | uncertain significance |
| rs2523930432 | 1:36,383,300 | G/A | — | uncertain significance |
| rs2523930527 | 1:36,383,333 | G/A | — | uncertain significance |
| rs2523932834 | 1:36,384,005 | G/A | — | uncertain significance |
| rs2148725560 | 1:36,384,011 | A/T | — | likely pathogenic |
| rs61751004 | 1:36,384,028 | G/T | — | benign |
| rs1557624574 | 1:36,384,675 | A/G | — | uncertain significance |
| rs2148725999 | 1:36,384,732 | C/T | — | conflicting classifications of pathogenicity |
| rs1571380407 | 1:36,384,737 | C/T | — | uncertain significance |
| rs2148726029 | 1:36,384,779 | A/T | — | likely pathogenic |
| rs772641687 | 1:36,385,129 | G/C | — | uncertain significance |
| rs1314564307 | 1:36,385,164 | G/C | — | uncertain significance |
| rs2523937757 | 1:36,385,192 | C/A | — | uncertain significance |
| rs1645796023 | 1:36,385,218 | G/A | — | uncertain significance |
| rs2523971759 | 1:36,395,894 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.