MAPRE2

microtubule associated protein RP/EB family member 2

Summary

The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

Known Variants35 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs909396421	18:32,585,514	C/G	—	uncertain significance
rs756390233	18:32,585,518	G/A	—	uncertain significance
rs530081	18:32,621,231	A/G	regulatory region variant	—
rs1196529655	18:32,621,529	C/T	—	uncertain significance
rs184926585	18:32,643,292	T/A	—	—
rs2523844956	18:32,650,153	T/C	—	uncertain significance
rs139112293	18:32,650,192	G/A	—	likely benign
rs864309719	18:32,650,239	A/G	missense variant	pathogenic
rs150260181	18:32,650,294	A/T	—	benign
rs864309717	18:32,677,419	A/G	missense variant	pathogenic
rs543332831	18:32,677,426	A/G	—	likely benign
rs2523904415	18:32,677,454	A/G	—	uncertain significance
rs1174180030	18:32,677,526	G/A	—	uncertain significance
rs1340148827	18:32,677,528	A/T	—	likely benign
rs1603400699	18:32,677,539	G/A	—	likely pathogenic
rs750392221	18:32,677,546	C/T	—	likely benign
rs77337283	18:32,681,921	G/A	—	likely benign
rs864309720	18:32,681,940	C/T	missense variant	pathogenic
rs2523915448	18:32,681,941	G/A	—	uncertain significance
rs864309718	18:32,681,967	C/T	stop gained	pathogenic
rs1569004058	18:32,681,986	A/G	—	uncertain significance
rs1027318156	18:32,682,008	G/A	—	likely benign
rs2523915648	18:32,682,030	C/T	—	conflicting classifications of pathogenicity
rs2523915654	18:32,682,031	G/A	—	likely pathogenic
rs1455198286	18:32,682,116	C/G	—	likely benign
rs2523971235	18:32,706,960	G/A	—	uncertain significance
rs202098289	18:32,707,058	C/T	—	likely benign
rs144899131	18:32,712,025	C/T	—	benign
rs191795435	18:32,712,055	G/A	—	likely benign
rs375818634	18:32,712,059	T/C	—	likely benign
rs138635601	18:32,712,091	C/T	—	likely benign
rs759157135	18:32,712,117	A/G	—	uncertain significance
rs756333635	18:32,720,275	A/T	—	uncertain significance
rs1248077714	18:32,720,301	G/A	—	uncertain significance
rs140836474	18:32,720,315	G/A	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.