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.