RAPGEF1
Rap guanine nucleotide exchange factor 1
Summary
This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3739497 | 9:134,453,976 | G/A | — | benign |
| rs34330901 | 9:134,454,900 | C/T | — | uncertain significance |
| rs370258316 | 9:134,458,010 | G/A | — | uncertain significance |
| rs765150170 | 9:134,459,720 | T/G | — | uncertain significance |
| rs2539755378 | 9:134,459,966 | A/G | — | uncertain significance |
| rs1220607875 | 9:134,459,967 | T/C | — | uncertain significance |
| rs926957660 | 9:134,463,383 | A/C | — | uncertain significance |
| rs369423823 | 9:134,463,411 | G/A | — | uncertain significance |
| rs2539839869 | 9:134,463,413 | C/A | — | uncertain significance |
| rs539844465 | 9:134,464,201 | C/G | — | uncertain significance |
| rs766831810 | 9:134,464,308 | T/G | — | uncertain significance |
| rs2539907575 | 9:134,467,512 | C/G | — | uncertain significance |
| rs992772220 | 9:134,467,562 | A/C | — | uncertain significance |
| rs35658906 | 9:134,471,725 | C/T | — | benign |
| rs1208472926 | 9:134,471,747 | G/A | — | uncertain significance |
| rs4740294 | 9:134,473,021 | C/G | intron variant | — |
| rs376973789 | 9:134,473,657 | C/T | — | uncertain significance |
| rs770482705 | 9:134,473,668 | G/A | — | uncertain significance |
| rs776348528 | 9:134,473,684 | G/C | — | uncertain significance |
| rs368950632 | 9:134,477,482 | C/T | — | uncertain significance |
| rs7034356 | 9:134,479,017 | A/C | — | — |
| rs184030691 | 9:134,497,217 | G/A | — | uncertain significance |
| rs754884637 | 9:134,497,220 | G/C | — | uncertain significance |
| rs376953220 | 9:134,497,233 | C/T | — | uncertain significance |
| rs370392666 | 9:134,497,335 | T/C | — | uncertain significance |
| rs869025251 | 9:134,497,376 | T/C | — | uncertain significance |
| rs372117592 | 9:134,501,357 | C/T | — | uncertain significance |
| rs779664732 | 9:134,501,399 | G/C | — | uncertain significance |
| rs761600285 | 9:134,501,446 | G/A | — | uncertain significance |
| rs765844937 | 9:134,501,456 | C/T | — | uncertain significance |
| rs368775480 | 9:134,501,473 | G/A | — | uncertain significance |
| rs373197789 | 9:134,501,498 | T/C | — | uncertain significance |
| rs893752079 | 9:134,501,506 | T/C | — | uncertain significance |
| rs2540436921 | 9:134,501,539 | C/T | — | uncertain significance |
| rs758806260 | 9:134,501,549 | C/T | — | likely benign |
| rs776692924 | 9:134,501,605 | G/A | — | uncertain significance |
| rs1963017736 | 9:134,501,680 | C/A | — | uncertain significance |
| rs1054248746 | 9:134,501,706 | C/G | — | uncertain significance |
| rs376892315 | 9:134,501,803 | T/C | — | uncertain significance |
| rs2540471647 | 9:134,503,411 | G/A | — | uncertain significance |
| rs1321690179 | 9:134,503,414 | G/T | — | uncertain significance |
| rs766236097 | 9:134,503,422 | C/T | — | uncertain significance |
| rs527872016 | 9:134,503,977 | C/G | — | uncertain significance |
| rs190989207 | 9:134,503,979 | C/T | — | uncertain significance |
| rs376984562 | 9:134,504,021 | G/A | — | uncertain significance |
| rs41297229 | 9:134,504,548 | C/T | — | benign |
| rs772006955 | 9:134,504,570 | G/C | — | uncertain significance |
| rs370381401 | 9:134,504,625 | G/T | — | uncertain significance |
| rs778617868 | 9:134,504,628 | G/C | — | uncertain significance |
| rs1588588108 | 9:134,504,630 | A/C | — | uncertain significance |
| rs777567428 | 9:134,505,674 | G/A | — | uncertain significance |
| rs2540644475 | 9:134,514,072 | T/C | — | uncertain significance |
| rs1309335863 | 9:134,514,152 | C/T | — | uncertain significance |
| rs1236669500 | 9:134,526,240 | G/A | — | uncertain significance |
| rs12686345 | 9:134,538,386 | A/C | — | — |
| rs11793533 | 9:134,563,185 | G/A | intron variant | — |
| rs35424590 | 9:134,572,638 | A/G | regulatory region variant | — |
| rs13283933 | 9:134,584,308 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.