SRGAP1
SLIT-ROBO Rho GTPase activating protein 1
Summary
The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]
Known Variants86 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs56264182 | 12:64,238,097 | A/G | regulatory region variant | — |
| rs752596875 | 12:64,238,672 | G/A | — | likely benign |
| rs570314267 | 12:64,297,800 | C/G | — | — |
| rs12422918 | 12:64,312,610 | G/T | regulatory region variant | — |
| rs142409169 | 12:64,377,804 | C/T | — | likely benign |
| rs1483422708 | 12:64,377,820 | G/A | — | uncertain significance |
| rs778174499 | 12:64,377,841 | C/T | — | uncertain significance |
| rs368839972 | 12:64,377,842 | G/A | — | likely benign |
| rs2501003009 | 12:64,377,866 | G/C | — | uncertain significance |
| rs201720400 | 12:64,377,881 | C/A | — | uncertain significance |
| rs755668158 | 12:64,410,726 | A/T | — | likely benign |
| rs781626187 | 12:64,410,750 | A/C | missense variant | uncertain significance |
| rs1430830690 | 12:64,410,755 | A/T | — | uncertain significance |
| rs771001102 | 12:64,410,791 | C/T | — | uncertain significance |
| rs6581531 | 12:64,435,179 | T/G | — | — |
| rs757099301 | 12:64,436,635 | C/T | — | likely benign |
| rs201075531 | 12:64,436,711 | C/T | — | uncertain significance |
| rs142477721 | 12:64,437,223 | C/G | — | benign |
| rs138338037 | 12:64,437,273 | G/A | — | uncertain significance |
| rs2498964220 | 12:64,437,314 | G/A | — | uncertain significance |
| rs1208074975 | 12:64,456,701 | G/A | — | uncertain significance |
| rs797044990 | 12:64,456,718 | G/A | missense variant | pathogenic |
| rs769440054 | 12:64,456,746 | A/G | — | uncertain significance |
| rs768873949 | 12:64,456,835 | G/A | — | uncertain significance |
| rs11829649 | 12:64,456,947 | G/A | — | benign |
| rs112908570 | 12:64,458,987 | C/T | — | benign |
| rs201177366 | 12:64,472,691 | A/G | — | likely benign |
| rs61756190 | 12:64,472,710 | G/A | — | benign |
| rs375642946 | 12:64,472,711 | A/T | — | uncertain significance |
| rs2136562150 | 12:64,472,737 | A/C | — | uncertain significance |
| rs751210214 | 12:64,472,790 | G/A | — | uncertain significance |
| rs773451694 | 12:64,472,902 | C/T | — | likely benign |
| rs201170742 | 12:64,485,095 | G/A | — | likely benign |
| rs149180451 | 12:64,485,115 | A/G | — | uncertain significance |
| rs1049114341 | 12:64,485,152 | C/T | — | likely benign |
| rs373137029 | 12:64,488,702 | C/T | — | benign |
| rs774415022 | 12:64,488,964 | T/C | — | uncertain significance |
| rs115343529 | 12:64,491,047 | A/G | — | likely benign |
| rs199871786 | 12:64,491,076 | C/G | — | likely benign |
| rs969288332 | 12:64,491,086 | C/T | — | uncertain significance |
| rs114817817 | 12:64,502,747 | C/T | — | risk factor |
| rs201404379 | 12:64,502,748 | G/A | — | uncertain significance |
| rs2136612301 | 12:64,502,767 | G/T | — | uncertain significance |
| rs1005423303 | 12:64,502,804 | G/T | — | uncertain significance |
| rs370229031 | 12:64,502,825 | C/T | — | likely benign |
| rs1592332125 | 12:64,505,615 | C/A | — | uncertain significance |
| rs1252384765 | 12:64,505,685 | T/C | — | uncertain significance |
| rs1461840588 | 12:64,505,699 | A/G | — | uncertain significance |
| rs772640170 | 12:64,505,733 | T/G | — | uncertain significance |
| rs763532876 | 12:64,505,746 | T/C | — | likely benign |
| rs577679255 | 12:64,509,595 | G/A | — | uncertain significance |
| rs375559876 | 12:64,519,750 | G/A | — | likely benign |
| rs1446124416 | 12:64,519,811 | G/A | — | uncertain significance |
| rs141097943 | 12:64,519,836 | C/T | — | benign |
| rs12303060 | 12:64,519,890 | C/T | — | benign |
| rs766056847 | 12:64,519,899 | C/T | — | likely benign |
| rs115564701 | 12:64,521,379 | G/A | — | benign |
| rs762643394 | 12:64,521,455 | A/G | — | uncertain significance |
| rs770735241 | 12:64,521,467 | T/C | — | uncertain significance |
| rs372441466 | 12:64,521,479 | C/G | — | uncertain significance |
| rs2036717295 | 12:64,521,501 | C/T | — | uncertain significance |
| rs2499188942 | 12:64,521,651 | A/G | — | uncertain significance |
| rs1485207551 | 12:64,521,662 | A/G | — | likely benign |
| rs748723181 | 12:64,521,666 | C/G | — | uncertain significance |
| rs776550286 | 12:64,521,700 | G/T | — | uncertain significance |
| rs61754221 | 12:64,521,724 | G/A | — | benign |
| rs768091956 | 12:64,521,798 | C/G | — | uncertain significance |
| rs373227457 | 12:64,521,831 | C/T | — | uncertain significance |
| rs572030421 | 12:64,521,834 | A/G | — | uncertain significance |
| rs779154252 | 12:64,521,851 | C/G | — | uncertain significance |
| rs377601761 | 12:64,521,868 | G/A | — | uncertain significance |
| rs58669336 | 12:64,521,872 | C/T | — | benign |
| rs369231301 | 12:64,521,890 | C/T | — | likely benign |
| rs775906373 | 12:64,521,925 | G/A | — | uncertain significance |
| rs764147106 | 12:64,521,934 | C/T | — | uncertain significance |
| rs755642722 | 12:64,521,947 | C/A | — | uncertain significance |
| rs113302231 | 12:64,521,957 | C/G | — | benign |
| rs549866334 | 12:64,536,211 | C/T | — | uncertain significance |
| rs139296908 | 12:64,536,236 | C/T | — | likely benign |
| rs781042705 | 12:64,536,271 | G/A | — | uncertain significance |
| rs115237615 | 12:64,536,277 | C/T | — | uncertain significance |
| rs34706041 | 12:64,536,278 | G/A | — | benign |
| rs145138564 | 12:64,536,301 | G/A | — | uncertain significance |
| rs1398889045 | 12:64,536,315 | A/G | — | uncertain significance |
| rs1387632562 | 12:64,536,427 | C/T | — | uncertain significance |
| rs914758420 | 12:64,536,434 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.