RASGRF1
Ras protein specific guanine nucleotide releasing factor 1
Summary
The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768043922 | 15:79,254,511 | C/T | — | uncertain significance |
| rs2505294425 | 15:79,254,514 | A/T | — | uncertain significance |
| rs551490924 | 15:79,254,523 | T/C | — | uncertain significance |
| rs34016249 | 15:79,254,525 | G/A | — | benign |
| rs190629538 | 15:79,266,337 | C/T | upstream gene variant | — |
| rs766396806 | 15:79,272,976 | T/C | — | likely benign |
| rs745512302 | 15:79,273,034 | G/A | — | uncertain significance |
| rs3743200 | 15:79,274,046 | C/T | regulatory region variant | — |
| rs143238097 | 15:79,277,409 | C/T | — | benign |
| rs2056122132 | 15:79,277,456 | T/C | — | uncertain significance |
| rs148440502 | 15:79,277,487 | G/A | — | benign |
| rs2505422687 | 15:79,282,562 | T/C | — | uncertain significance |
| rs527901456 | 15:79,282,907 | G/A | — | — |
| rs375185257 | 15:79,284,102 | T/A | — | uncertain significance |
| rs147869279 | 15:79,284,128 | G/A | — | benign |
| rs776801006 | 15:79,290,442 | T/C | — | uncertain significance |
| rs546653050 | 15:79,290,482 | C/T | — | likely benign |
| rs779564323 | 15:79,290,487 | C/T | — | uncertain significance |
| rs149177359 | 15:79,290,518 | C/T | — | likely benign |
| rs746752222 | 15:79,291,087 | G/A | — | uncertain significance |
| rs2056477927 | 15:79,292,114 | T/G | — | uncertain significance |
| rs112402687 | 15:79,292,146 | G/A | — | likely benign |
| rs199661393 | 15:79,292,172 | C/T | — | uncertain significance |
| rs773604136 | 15:79,292,177 | G/A | — | uncertain significance |
| rs975288968 | 15:79,292,216 | G/C | — | uncertain significance |
| rs140190306 | 15:79,296,171 | C/T | — | uncertain significance |
| rs79149121 | 15:79,296,188 | G/A | — | benign |
| rs113161554 | 15:79,296,192 | C/T | — | likely benign |
| rs111385391 | 15:79,296,193 | G/A | — | benign |
| rs750968678 | 15:79,296,195 | C/T | — | uncertain significance |
| rs148776356 | 15:79,296,215 | G/A | — | uncertain significance |
| rs775307976 | 15:79,296,281 | G/A | — | uncertain significance |
| rs1683926970 | 15:79,296,288 | T/C | — | uncertain significance |
| rs145347876 | 15:79,296,386 | C/T | — | likely benign |
| rs748449776 | 15:79,296,395 | G/A | — | uncertain significance |
| rs368915009 | 15:79,296,400 | C/G | — | uncertain significance |
| rs144984287 | 15:79,296,445 | G/A | — | likely benign |
| rs149079485 | 15:79,296,449 | G/A | — | uncertain significance |
| rs1309809935 | 15:79,296,459 | G/A | — | uncertain significance |
| rs2056614527 | 15:79,296,462 | G/C | — | uncertain significance |
| rs770172047 | 15:79,296,469 | G/A | — | likely benign |
| rs764386733 | 15:79,296,491 | C/T | — | uncertain significance |
| rs370166186 | 15:79,298,586 | C/T | — | uncertain significance |
| rs34687975 | 15:79,307,680 | T/C | — | benign |
| rs745650536 | 15:79,307,712 | C/T | — | uncertain significance |
| rs774275586 | 15:79,307,735 | C/T | — | uncertain significance |
| rs186387242 | 15:79,310,102 | C/T | — | benign |
| rs774543725 | 15:79,310,125 | C/T | — | uncertain significance |
| rs139426512 | 15:79,310,238 | G/A | — | likely benign |
| rs566305773 | 15:79,310,239 | G/A | — | uncertain significance |
| rs148722229 | 15:79,317,675 | C/A | — | uncertain significance |
| rs1219429381 | 15:79,317,748 | G/C | — | uncertain significance |
| rs35437275 | 15:79,320,165 | G/T | — | benign |
| rs778547354 | 15:79,324,556 | C/T | — | uncertain significance |
| rs146729439 | 15:79,324,573 | G/A | — | benign |
| rs766133238 | 15:79,339,110 | C/T | — | uncertain significance |
| rs181059534 | 15:79,339,117 | G/A | — | likely benign |
| rs371901610 | 15:79,339,154 | C/T | — | uncertain significance |
| rs769851165 | 15:79,341,858 | C/T | — | uncertain significance |
| rs774664196 | 15:79,341,873 | T/C | — | uncertain significance |
| rs193011391 | 15:79,341,940 | C/A | — | benign |
| rs4778879 | 15:79,372,875 | A/T | — | — |
| rs13380109 | 15:79,378,775 | G/A | intron variant | — |
| rs1961579 | 15:79,380,516 | G/A | intron variant | — |
| rs1223312169 | 15:79,382,590 | G/C | — | uncertain significance |
| rs1016058636 | 15:79,382,605 | G/T | — | uncertain significance |
| rs760656612 | 15:79,382,708 | C/T | — | uncertain significance |
| rs147992380 | 15:79,382,733 | G/A | — | likely benign |
| rs764289567 | 15:79,382,808 | G/A | — | likely benign |
| rs2505819988 | 15:79,382,810 | G/T | — | uncertain significance |
| rs28415942 | 15:79,384,850 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.