ROBO2

roundabout guidance receptor 2

Summary

The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Known Variants417 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs769883087	3:75,986,642	G/T	—	likely benign
rs12171318	3:75,986,663	C/A	—	benign
rs540331749	3:75,986,685	C/G	—	uncertain significance
rs62269817	3:75,986,686	A/G	—	benign
rs79015247	3:75,986,695	G/A	—	benign
rs764384584	3:75,986,698	A/G	—	likely benign
rs78834776	3:75,986,717	G/A	—	benign
rs62269818	3:75,986,719	G/A	—	likely benign
rs747011633	3:75,986,741	G/T	—	conflicting classifications of pathogenicity
rs184010489	3:76,076,955	A/G	intron variant	—
rs1516459	3:76,261,820	T/C	intron variant	—
rs3849491	3:76,484,183	T/C	coding sequence variant	—
rs12497518	3:76,716,794	G/A	intron variant	—
rs264537	3:76,722,766	C/T	—	—
rs10511052	3:76,725,903	G/A	intron variant	—
rs1146011	3:76,864,815	G/T	—	—
rs6783675	3:76,975,431	C/G	—	—
rs9835590	3:77,089,095	C/G	—	benign
rs886058872	3:77,089,366	C/G	—	uncertain significance
rs886058873	3:77,089,375	A/G	—	uncertain significance
rs3923745	3:77,089,395	C/T	—	benign
rs886058874	3:77,089,455	C/T	—	uncertain significance
rs542280581	3:77,089,478	G/A	—	benign
rs79942150	3:77,089,533	G/C	—	benign
rs3923744	3:77,089,699	T/G	—	benign
rs886058875	3:77,089,771	C/T	—	uncertain significance
rs542668375	3:77,089,827	C/G	—	uncertain significance
rs2475197740	3:77,089,944	T/A	—	uncertain significance
rs370462786	3:77,089,971	G/A	—	uncertain significance
rs752898870	3:77,089,988	C/T	—	likely benign
rs114060047	3:77,090,112	C/T	—	benign
rs80264450	3:77,146,948	A/T	—	benign
rs9873816	3:77,147,007	G/A	—	benign
rs9873691	3:77,147,039	C/A	—	benign
rs9874095	3:77,147,112	G/A	—	benign
rs61731268	3:77,147,151	G/T	—	benign
rs1159415876	3:77,147,195	C/T	—	uncertain significance
rs6788280	3:77,147,197	C/A	—	benign
rs754279676	3:77,147,198	G/A	—	uncertain significance
rs1204142845	3:77,147,214	T/G	—	likely benign
rs778332221	3:77,147,272	C/T	—	uncertain significance
rs752240818	3:77,147,274	G/T	—	likely benign
rs758055441	3:77,147,278	A/G	—	uncertain significance
rs201531318	3:77,147,307	G/A	—	likely benign
rs141593508	3:77,147,321	C/G	—	uncertain significance
rs768561235	3:77,147,338	C/T	—	uncertain significance
rs200834587	3:77,147,354	T/A	—	uncertain significance
rs2071367863	3:77,147,395	G/T	—	uncertain significance
rs1029843225	3:77,147,400	C/A	—	likely benign
rs780623744	3:77,147,438	C/T	—	conflicting classifications of pathogenicity
rs768750709	3:77,147,442	G/T	—	uncertain significance
rs762068382	3:77,147,444	A/G	—	uncertain significance
rs772266460	3:77,147,446	T/C	—	uncertain significance
rs762759644	3:77,147,474	C/T	—	uncertain significance
rs763736763	3:77,147,475	G/A	—	uncertain significance
rs1578948133	3:77,147,487	G/C	—	likely benign
rs60137936	3:77,224,544	A/C	intron variant	—
rs2068484	3:77,232,068	C/T	intron variant	—
rs61419856	3:77,288,469	T/C	intron variant	—
rs11927597	3:77,293,137	T/C	intron variant	—
rs66799104	3:77,312,067	G/C	—	—
rs11924337	3:77,321,570	G/C	intron variant	—
rs1037093362	3:77,526,559	C/A	—	likely benign
rs2548251017	3:77,526,626	A/G	—	likely benign
rs200353960	3:77,526,638	C/T	—	likely benign
rs2084155191	3:77,526,643	C/T	—	uncertain significance
rs201406456	3:77,526,647	C/T	—	likely benign
rs2548251415	3:77,526,655	A/G	—	uncertain significance
rs2084156785	3:77,526,656	C/T	—	likely benign
rs1295649643	3:77,526,685	A/G	—	uncertain significance
rs2548252093	3:77,526,690	G/T	—	uncertain significance
rs372913645	3:77,526,694	G/A	—	conflicting classifications of pathogenicity
rs777958510	3:77,526,740	C/T	—	likely benign
rs113680429	3:77,530,247	T/C	—	benign
rs763574051	3:77,530,253	C/T	—	uncertain significance
rs200483677	3:77,530,254	G/A	—	likely benign
rs886058876	3:77,530,261	A/G	—	uncertain significance
rs752040148	3:77,530,264	A/T	—	uncertain significance
rs781379035	3:77,530,270	G/T	—	uncertain significance
rs2084641283	3:77,530,278	A/G	—	uncertain significance
rs2548285644	3:77,530,281	C/T	—	uncertain significance
rs745573128	3:77,530,321	C/A	—	likely benign
rs2084647233	3:77,530,331	G/A	—	uncertain significance
rs2548286268	3:77,530,341	A/G	—	uncertain significance
rs184080216	3:77,530,342	C/G	—	benign
rs935528	3:77,530,637	T/C	—	benign
rs13064369	3:77,539,218	C/T	intron variant	—
rs762283942	3:77,542,389	T/C	—	likely benign
rs2086360838	3:77,542,403	A/G	—	uncertain significance
rs2086361656	3:77,542,409	C/T	—	uncertain significance
rs781112706	3:77,542,439	G/A	—	uncertain significance
rs748546244	3:77,542,479	A/C	—	uncertain significance
rs772503893	3:77,542,487	C/G	—	uncertain significance
rs1208378237	3:77,542,502	A/G	—	uncertain significance
rs775779	3:77,571,639	A/C	—	benign
rs810233	3:77,571,678	G/A	—	benign
rs778244399	3:77,571,913	A/G	—	likely benign
rs200430970	3:77,571,919	T/A	—	benign
rs201344460	3:77,571,941	C/T	—	benign
rs780389541	3:77,571,945	T/C	—	uncertain significance

Showing 100 of 417 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.