RAPGEF5
Rap guanine nucleotide exchange factor 5
Summary
Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs187051224 | 7:22,162,100 | T/C | — | uncertain significance |
| rs1390706414 | 7:22,165,254 | C/T | — | uncertain significance |
| rs2128099721 | 7:22,170,705 | G/A | — | likely pathogenic |
| rs746200142 | 7:22,176,556 | A/T | — | uncertain significance |
| rs756454857 | 7:22,176,584 | A/C | — | uncertain significance |
| rs1416132826 | 7:22,179,662 | C/T | — | uncertain significance |
| rs1199345171 | 7:22,184,666 | C/T | — | uncertain significance |
| rs547999105 | 7:22,186,528 | T/C | — | uncertain significance |
| rs768844483 | 7:22,186,603 | C/T | — | uncertain significance |
| rs6461639 | 7:22,186,955 | T/C | intron variant | — |
| rs763682617 | 7:22,190,060 | T/C | — | uncertain significance |
| rs1388133868 | 7:22,190,116 | T/C | — | uncertain significance |
| rs200463241 | 7:22,194,120 | T/C | — | uncertain significance |
| rs201437488 | 7:22,194,211 | C/T | — | uncertain significance |
| rs775216639 | 7:22,196,433 | T/G | — | uncertain significance |
| rs2534173322 | 7:22,196,475 | T/C | — | uncertain significance |
| rs374326170 | 7:22,200,140 | G/A | — | uncertain significance |
| rs2534190527 | 7:22,200,147 | C/A | — | uncertain significance |
| rs868726251 | 7:22,202,037 | T/C | — | uncertain significance |
| rs770113566 | 7:22,202,109 | C/T | — | uncertain significance |
| rs775702720 | 7:22,202,110 | G/A | — | likely benign |
| rs200871852 | 7:22,202,124 | T/A | — | uncertain significance |
| rs760946858 | 7:22,233,030 | G/A | — | uncertain significance |
| rs1187813791 | 7:22,233,539 | T/C | — | uncertain significance |
| rs372172176 | 7:22,233,548 | G/A | — | uncertain significance |
| rs776827782 | 7:22,233,610 | G/C | — | likely benign |
| rs776007443 | 7:22,233,626 | T/C | — | uncertain significance |
| rs1273478649 | 7:22,233,630 | C/T | — | uncertain significance |
| rs749358540 | 7:22,259,487 | G/C | — | uncertain significance |
| rs577125202 | 7:22,259,571 | C/T | — | uncertain significance |
| rs1337907051 | 7:22,259,598 | A/G | — | uncertain significance |
| rs764694201 | 7:22,259,599 | C/A | — | uncertain significance |
| rs765504656 | 7:22,270,459 | T/A | — | likely benign |
| rs2534424306 | 7:22,270,469 | G/C | — | uncertain significance |
| rs777962250 | 7:22,270,478 | A/T | — | uncertain significance |
| rs199731557 | 7:22,270,505 | T/C | — | uncertain significance |
| rs565275827 | 7:22,270,527 | C/T | — | uncertain significance |
| rs113432289 | 7:22,293,117 | A/C | intron variant | — |
| rs61743317 | 7:22,306,616 | C/T | — | uncertain significance |
| rs545534109 | 7:22,316,457 | G/A | — | — |
| rs143736485 | 7:22,321,403 | G/T | intron variant | — |
| rs375279963 | 7:22,347,976 | C/T | — | uncertain significance |
| rs370864752 | 7:22,349,632 | A/G | — | uncertain significance |
| rs1522280 | 7:22,368,678 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.