RAPGEF3
Rap guanine nucleotide exchange factor 3
Summary
Enables guanyl-nucleotide exchange factor activity and protein domain specific binding activity. Involved in several processes, including Rap protein signal transduction; cellular response to cAMP; and regulation of syncytium formation by plasma membrane fusion. Located in several cellular components, including filopodium; lamellipodium; and microvillus. Implicated in nicotine dependence. Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs537462228 | 12:48,131,356 | C/G | — | uncertain significance |
| rs146714167 | 12:48,131,467 | G/A | — | benign |
| rs2072117 | 12:48,131,728 | G/A | intron variant | — |
| rs143496473 | 12:48,132,009 | G/A | — | uncertain significance |
| rs759034284 | 12:48,132,027 | T/A | — | uncertain significance |
| rs11168216 | 12:48,132,176 | T/C | intron variant | — |
| rs1400840251 | 12:48,132,490 | T/A | — | uncertain significance |
| rs760766068 | 12:48,133,941 | C/T | — | uncertain significance |
| rs200046122 | 12:48,133,944 | A/G | — | uncertain significance |
| rs550320611 | 12:48,134,108 | G/A | — | uncertain significance |
| rs10875687 | 12:48,134,214 | G/T | coding sequence variant | — |
| rs144047493 | 12:48,134,495 | C/T | — | uncertain significance |
| rs755910369 | 12:48,134,561 | C/T | — | uncertain significance |
| rs144726123 | 12:48,134,567 | G/A | — | uncertain significance |
| rs2074533 | 12:48,134,695 | T/C | splice region variant | — |
| rs80097705 | 12:48,134,768 | A/T | — | benign |
| rs2539653123 | 12:48,134,822 | A/G | — | likely benign |
| rs142535251 | 12:48,134,826 | G/A | — | benign |
| rs779247862 | 12:48,135,325 | C/T | — | uncertain significance |
| rs767307384 | 12:48,137,345 | C/G | — | uncertain significance |
| rs140273815 | 12:48,137,359 | A/G | — | likely benign |
| rs899984014 | 12:48,137,394 | C/T | — | uncertain significance |
| rs144954699 | 12:48,137,399 | G/T | — | uncertain significance |
| rs202109036 | 12:48,137,441 | C/T | — | uncertain significance |
| rs368286046 | 12:48,137,448 | T/C | — | uncertain significance |
| rs573050276 | 12:48,137,847 | C/T | — | uncertain significance |
| rs2539676068 | 12:48,140,662 | T/C | — | uncertain significance |
| rs61709815 | 12:48,141,333 | C/T | — | benign |
| rs746514278 | 12:48,141,336 | C/T | — | uncertain significance |
| rs377464139 | 12:48,141,340 | G/A | — | uncertain significance |
| rs1941491344 | 12:48,141,359 | C/G | — | uncertain significance |
| rs1323209897 | 12:48,141,520 | T/C | — | uncertain significance |
| rs527644735 | 12:48,141,623 | C/T | — | uncertain significance |
| rs148472439 | 12:48,141,885 | C/A | — | uncertain significance |
| rs142627822 | 12:48,141,886 | G/A | — | benign |
| rs761149676 | 12:48,141,921 | C/T | — | uncertain significance |
| rs2539682402 | 12:48,141,923 | C/T | — | uncertain significance |
| rs1401046973 | 12:48,141,924 | T/C | — | uncertain significance |
| rs199960016 | 12:48,142,245 | T/A | — | uncertain significance |
| rs757281 | 12:48,142,418 | C/T | — | — |
| rs529387182 | 12:48,142,623 | G/A | — | uncertain significance |
| rs868510642 | 12:48,142,626 | C/T | — | uncertain significance |
| rs370751497 | 12:48,142,639 | C/T | — | uncertain significance |
| rs527530696 | 12:48,142,668 | A/G | — | uncertain significance |
| rs760399497 | 12:48,142,677 | C/T | — | uncertain significance |
| rs367665004 | 12:48,143,207 | C/T | — | uncertain significance |
| rs147783202 | 12:48,143,208 | G/A | — | uncertain significance |
| rs756792898 | 12:48,143,222 | T/C | — | uncertain significance |
| rs766723911 | 12:48,143,273 | G/T | — | uncertain significance |
| rs145878042 | 12:48,143,315 | G/A | — | benign |
| rs543303042 | 12:48,143,719 | T/A | — | uncertain significance |
| rs1373481166 | 12:48,143,748 | A/G | — | uncertain significance |
| rs765086897 | 12:48,143,757 | G/A | — | uncertain significance |
| rs1941673354 | 12:48,144,156 | G/T | — | uncertain significance |
| rs1457007841 | 12:48,144,183 | G/C | — | uncertain significance |
| rs754730560 | 12:48,144,838 | G/C | — | uncertain significance |
| rs138831127 | 12:48,144,850 | T/C | — | likely benign |
| rs1941714018 | 12:48,144,891 | G/A | — | uncertain significance |
| rs1357802032 | 12:48,144,929 | G/A | — | likely benign |
| rs368855605 | 12:48,144,934 | C/T | — | uncertain significance |
| rs767838278 | 12:48,144,940 | C/T | — | uncertain significance |
| rs1159800950 | 12:48,145,201 | A/C | — | uncertain significance |
| rs199787084 | 12:48,145,244 | T/G | — | uncertain significance |
| rs369316532 | 12:48,145,250 | C/T | — | uncertain significance |
| rs375533819 | 12:48,145,269 | T/C | — | uncertain significance |
| rs147802510 | 12:48,145,286 | C/T | — | likely benign |
| rs779692997 | 12:48,145,292 | G/C | — | uncertain significance |
| rs2072115 | 12:48,145,368 | A/C | — | — |
| rs1463778681 | 12:48,145,584 | C/T | — | uncertain significance |
| rs776585358 | 12:48,145,713 | C/T | — | uncertain significance |
| rs150920877 | 12:48,145,714 | G/A | — | likely benign |
| rs150577703 | 12:48,151,362 | A/G | intron variant | — |
| rs772093269 | 12:48,151,654 | G/A | — | uncertain significance |
| rs762724728 | 12:48,151,677 | C/T | — | uncertain significance |
| rs201123081 | 12:48,151,760 | C/T | — | benign |
| rs746823313 | 12:48,151,768 | C/T | — | uncertain significance |
| rs376741096 | 12:48,151,788 | C/G | — | likely benign |
| rs765951915 | 12:48,151,800 | A/G | — | uncertain significance |
| rs546437260 | 12:48,151,853 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.