ARHGEF12
Rho guanine nucleotide exchange factor 12
Summary
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Known Variants90 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7126413 | 11:120,207,405 | A/G | regulatory region variant | — |
| rs1371529946 | 11:120,207,971 | A/G | — | uncertain significance |
| rs12361632 | 11:120,215,843 | C/A | — | — |
| rs12785387 | 11:120,221,987 | C/T | regulatory region variant | — |
| rs12787285 | 11:120,222,211 | T/A | — | — |
| rs10892564 | 11:120,224,650 | A/G | intron variant | — |
| rs4936517 | 11:120,228,286 | C/G | intron variant | — |
| rs10790380 | 11:120,233,158 | G/A | intron variant | — |
| rs7924975 | 11:120,233,564 | G/C | intron variant | — |
| rs7924772 | 11:120,233,626 | A/G | intron variant | — |
| rs11217840 | 11:120,238,655 | A/G | intron variant | — |
| rs11217843 | 11:120,239,937 | A/G | intron variant | — |
| rs10892566 | 11:120,241,923 | T/C | intron variant | — |
| rs12807097 | 11:120,242,348 | G/A | intron variant | — |
| rs58073046 | 11:120,248,493 | A/G | intron variant | — |
| rs4245213 | 11:120,273,597 | G/A | intron variant | — |
| rs201592364 | 11:120,278,450 | T/G | — | uncertain significance |
| rs2497263812 | 11:120,278,509 | C/T | — | uncertain significance |
| rs200569458 | 11:120,280,150 | G/A | — | uncertain significance |
| rs10790382 | 11:120,288,372 | T/C | intron variant | — |
| rs10892574 | 11:120,288,944 | G/A | — | — |
| rs12794618 | 11:120,289,699 | T/C | intron variant | — |
| rs34754222 | 11:120,291,479 | G/A | — | uncertain significance |
| rs76693355 | 11:120,292,477 | T/C | intron variant | — |
| rs11217863 | 11:120,293,138 | G/A | intron variant | — |
| rs749063772 | 11:120,295,122 | A/G | — | likely benign |
| rs766606091 | 11:120,298,844 | A/G | — | uncertain significance |
| rs376159779 | 11:120,298,867 | A/G | — | uncertain significance |
| rs2497456718 | 11:120,298,919 | G/T | — | uncertain significance |
| rs2497469273 | 11:120,300,194 | A/C | — | uncertain significance |
| rs114537415 | 11:120,300,448 | C/T | — | benign |
| rs781232750 | 11:120,302,496 | C/T | — | uncertain significance |
| rs2497495643 | 11:120,302,558 | G/A | — | uncertain significance |
| rs2497495700 | 11:120,302,561 | C/G | — | uncertain significance |
| rs1181314475 | 11:120,302,588 | G/A | — | uncertain significance |
| rs761313745 | 11:120,302,597 | C/T | — | uncertain significance |
| rs12293270 | 11:120,302,627 | T/A | — | benign |
| rs937273432 | 11:120,308,017 | A/G | — | uncertain significance |
| rs7951250 | 11:120,309,036 | A/C | — | — |
| rs370519171 | 11:120,310,921 | A/C | — | uncertain significance |
| rs1565484109 | 11:120,312,464 | C/T | — | uncertain significance |
| rs200373182 | 11:120,312,465 | G/A | — | uncertain significance |
| rs2497603102 | 11:120,312,521 | A/G | — | uncertain significance |
| rs750698587 | 11:120,312,833 | C/A | — | uncertain significance |
| rs376369757 | 11:120,312,844 | A/G | — | uncertain significance |
| rs7117285 | 11:120,313,138 | C/G | — | — |
| rs189894068 | 11:120,317,151 | G/A | — | uncertain significance |
| rs770694253 | 11:120,317,157 | A/G | — | uncertain significance |
| rs963893223 | 11:120,317,664 | C/T | — | uncertain significance |
| rs753626052 | 11:120,317,665 | G/A | — | uncertain significance |
| rs138160103 | 11:120,317,731 | G/T | — | uncertain significance |
| rs201273109 | 11:120,318,591 | C/T | — | uncertain significance |
| rs780165858 | 11:120,322,268 | T/C | — | uncertain significance |
| rs1198768720 | 11:120,322,280 | T/A | — | uncertain significance |
| rs774457237 | 11:120,322,305 | C/G | — | uncertain significance |
| rs35707795 | 11:120,322,373 | A/G | — | likely benign |
| rs192344841 | 11:120,322,414 | A/C | — | benign |
| rs943776656 | 11:120,327,838 | G/A | — | uncertain significance |
| rs773482324 | 11:120,327,883 | C/T | — | uncertain significance |
| rs2497762157 | 11:120,327,911 | C/T | — | uncertain significance |
| rs34217050 | 11:120,328,894 | G/A | — | benign |
| rs1196096062 | 11:120,328,914 | G/A | — | uncertain significance |
| rs779795252 | 11:120,331,381 | T/C | — | uncertain significance |
| rs200915672 | 11:120,336,059 | G/C | — | uncertain significance |
| rs2497870680 | 11:120,337,927 | C/T | — | uncertain significance |
| rs2497892870 | 11:120,340,056 | A/T | — | uncertain significance |
| rs11217878 | 11:120,340,383 | G/A | intron variant | — |
| rs2497949316 | 11:120,345,315 | T/C | — | uncertain significance |
| rs199514536 | 11:120,347,406 | A/G | — | uncertain significance |
| rs1947065513 | 11:120,347,984 | C/T | — | uncertain significance |
| rs573127917 | 11:120,348,013 | G/A | — | uncertain significance |
| rs549863916 | 11:120,348,227 | A/T | — | uncertain significance |
| rs377573247 | 11:120,348,892 | T/C | — | uncertain significance |
| rs776420216 | 11:120,348,991 | A/G | — | uncertain significance |
| rs189417708 | 11:120,349,026 | T/A | — | likely benign |
| rs771016361 | 11:120,349,039 | T/A | — | uncertain significance |
| rs759035837 | 11:120,349,077 | G/A | — | uncertain significance |
| rs541688108 | 11:120,350,702 | T/C | — | uncertain significance |
| rs777640146 | 11:120,350,738 | A/C | — | likely benign |
| rs770685105 | 11:120,350,741 | A/C | — | uncertain significance |
| rs369525004 | 11:120,350,750 | G/A | — | uncertain significance |
| rs373504530 | 11:120,350,775 | G/A | — | likely benign |
| rs200948494 | 11:120,350,902 | T/A | — | uncertain significance |
| rs1400348306 | 11:120,350,930 | T/C | — | uncertain significance |
| rs780966834 | 11:120,351,072 | T/A | — | uncertain significance |
| rs202128571 | 11:120,351,131 | G/T | — | uncertain significance |
| rs772532659 | 11:120,351,975 | A/G | — | uncertain significance |
| rs1002911306 | 11:120,352,218 | G/C | — | uncertain significance |
| rs141469382 | 11:120,355,028 | T/C | intron variant | — |
| rs893148311 | 11:120,355,171 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.