AGO2
argonaute RISC catalytic component 2
Summary
This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Known Variants108 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2540671118 | 8:141,542,211 | C/G | — | uncertain significance |
| rs2540671184 | 8:141,542,244 | C/A | — | likely pathogenic |
| rs2540672045 | 8:141,542,525 | C/T | — | uncertain significance |
| rs2540672167 | 8:141,542,573 | A/G | — | uncertain significance |
| rs2540672241 | 8:141,542,594 | A/G | — | uncertain significance |
| rs1467755029 | 8:141,542,597 | C/T | — | likely pathogenic |
| rs372883732 | 8:141,542,598 | G/A | — | likely benign |
| rs2540672331 | 8:141,542,611 | C/T | — | uncertain significance |
| rs2132854158 | 8:141,542,621 | T/G | — | uncertain significance |
| rs2540672575 | 8:141,542,691 | A/C | — | uncertain significance |
| rs2540672589 | 8:141,542,692 | T/C | — | uncertain significance |
| rs1475264379 | 8:141,545,578 | C/T | — | uncertain significance |
| rs2072680461 | 8:141,545,586 | C/T | — | pathogenic |
| rs2540679744 | 8:141,545,609 | G/A | — | likely benign |
| rs2540679800 | 8:141,545,626 | T/A | — | uncertain significance |
| rs2072681689 | 8:141,545,641 | C/G | — | pathogenic |
| rs2944772 | 8:141,548,419 | C/G | intron variant | — |
| rs73713169 | 8:141,549,412 | A/G | — | benign |
| rs866981753 | 8:141,549,448 | G/A | — | pathogenic |
| rs765648110 | 8:141,549,561 | T/C | — | likely benign |
| rs2072790958 | 8:141,551,310 | G/A | — | uncertain significance |
| rs745418916 | 8:141,551,326 | C/T | — | likely benign |
| rs113224509 | 8:141,551,368 | G/A | — | benign |
| rs2540691084 | 8:141,551,379 | G/T | — | conflicting classifications of pathogenicity |
| rs2293939 | 8:141,551,407 | G/A | — | benign |
| rs1205353566 | 8:141,551,408 | C/T | — | uncertain significance |
| rs1196970558 | 8:141,551,427 | G/A | — | uncertain significance |
| rs757196822 | 8:141,551,440 | G/C | — | uncertain significance |
| rs1564077207 | 8:141,554,341 | C/T | — | pathogenic |
| rs190266166 | 8:141,554,342 | G/A | — | benign |
| rs1564077220 | 8:141,554,344 | C/T | — | uncertain significance |
| rs2072852147 | 8:141,554,346 | G/C | — | uncertain significance |
| rs142977065 | 8:141,554,348 | G/C | — | likely benign |
| rs151129167 | 8:141,554,362 | C/G | — | uncertain significance |
| rs1409885719 | 8:141,554,377 | T/C | — | uncertain significance |
| rs201214398 | 8:141,554,406 | C/T | — | likely benign |
| rs2540704605 | 8:141,557,573 | T/C | — | uncertain significance |
| rs57810503 | 8:141,557,608 | G/C | — | benign |
| rs2540704700 | 8:141,557,612 | T/C | — | uncertain significance |
| rs2540704722 | 8:141,557,630 | T/C | — | uncertain significance |
| rs2132898626 | 8:141,557,652 | T/G | — | uncertain significance |
| rs2540704889 | 8:141,557,696 | A/G | — | likely pathogenic |
| rs377646938 | 8:141,557,730 | A/C | — | benign |
| rs2977479 | 8:141,558,632 | G/C | regulatory region variant | — |
| rs760059271 | 8:141,559,224 | G/A | — | uncertain significance |
| rs150338909 | 8:141,559,232 | G/A | synonymous variant | — |
| rs2072952870 | 8:141,559,249 | C/A | — | uncertain significance |
| rs60474948 | 8:141,559,268 | C/T | — | benign |
| rs747587744 | 8:141,559,357 | C/T | — | uncertain significance |
| rs2292781 | 8:141,559,358 | G/A | — | benign |
| rs2540708804 | 8:141,559,402 | A/C | — | uncertain significance |
| rs2292779 | 8:141,561,393 | G/C | intron variant | benign |
| rs2540713443 | 8:141,561,434 | G/A | — | likely benign |
| rs1384149030 | 8:141,561,457 | C/T | — | uncertain significance |
| rs2540713593 | 8:141,561,475 | T/C | — | uncertain significance |
| rs2540713673 | 8:141,561,504 | A/C | — | uncertain significance |
| rs75134171 | 8:141,565,991 | G/A | — | likely benign |
| rs1308828307 | 8:141,566,084 | C/T | — | uncertain significance |
| rs61758136 | 8:141,566,293 | G/T | — | likely benign |
| rs144381819 | 8:141,566,299 | C/T | — | likely benign |
| rs2271738 | 8:141,566,311 | C/T | — | benign |
| rs2540726643 | 8:141,566,319 | T/C | — | likely pathogenic |
| rs2073092234 | 8:141,566,321 | A/G | — | pathogenic |
| rs2132928647 | 8:141,566,339 | T/A | — | uncertain significance |
| rs2073092398 | 8:141,566,340 | C/T | — | uncertain significance |
| rs2073092496 | 8:141,566,342 | G/A | — | pathogenic |
| rs2540729687 | 8:141,567,195 | G/T | — | likely pathogenic |
| rs2540729692 | 8:141,567,199 | G/A | — | likely benign |
| rs2132931555 | 8:141,567,315 | C/T | — | uncertain significance |
| rs2549625577 | 8:141,568,623 | C/T | — | uncertain significance |
| rs2549625583 | 8:141,568,641 | T/C | — | uncertain significance |
| rs2549626135 | 8:141,569,562 | T/C | — | uncertain significance |
| rs2073160745 | 8:141,569,599 | G/C | — | uncertain significance |
| rs761915755 | 8:141,569,607 | T/C | — | uncertain significance |
| rs767782553 | 8:141,569,615 | C/T | — | likely benign |
| rs140423429 | 8:141,570,513 | G/T | — | likely benign |
| rs2132941125 | 8:141,570,526 | C/A | — | pathogenic |
| rs2549626791 | 8:141,570,532 | C/T | — | uncertain significance |
| rs1005112700 | 8:141,570,542 | G/A | — | uncertain significance |
| rs2132941161 | 8:141,570,548 | C/T | — | uncertain significance |
| rs2073179658 | 8:141,570,553 | A/G | — | pathogenic |
| rs1435463650 | 8:141,570,568 | C/G | — | uncertain significance |
| rs1048719160 | 8:141,570,577 | G/A | — | uncertain significance |
| rs3928672 | 8:141,572,167 | C/T | intron variant | — |
| rs758897861 | 8:141,572,596 | C/T | — | likely benign |
| rs764426394 | 8:141,572,610 | C/T | — | uncertain significance |
| rs753058876 | 8:141,572,646 | C/T | — | uncertain significance |
| rs530887576 | 8:141,572,659 | G/T | — | uncertain significance |
| rs2549628087 | 8:141,572,668 | C/G | — | uncertain significance |
| rs1015925954 | 8:141,572,717 | G/A | — | uncertain significance |
| rs1345869518 | 8:141,572,721 | C/A | — | uncertain significance |
| rs368945218 | 8:141,572,740 | G/A | — | uncertain significance |
| rs2944755 | 8:141,574,194 | A/T | — | — |
| rs13276958 | 8:141,582,896 | T/C | — | benign |
| rs371072076 | 8:141,582,903 | G/A | — | likely benign |
| rs2073403030 | 8:141,582,933 | G/A | — | uncertain significance |
| rs2549634114 | 8:141,582,970 | C/T | — | uncertain significance |
| rs371401188 | 8:141,582,971 | G/C | — | likely benign |
| rs2549634133 | 8:141,582,980 | A/T | — | uncertain significance |
| rs779523436 | 8:141,583,025 | G/A | — | likely benign |
Showing 100 of 108 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.