ALS2

alsin Rho guanine nucleotide exchange factor ALS2

Summary

The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Known Variants897 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs868173236	2:202,565,036	G/C	—	uncertain significance
rs763133240	2:202,565,041	G/A	—	uncertain significance
rs1689312301	2:202,565,073	T/C	—	uncertain significance
rs759248084	2:202,565,176	G/T	—	uncertain significance
rs998591070	2:202,565,246	C/A	—	uncertain significance
rs888553434	2:202,565,315	T/C	—	uncertain significance
rs886055451	2:202,565,325	C/T	—	uncertain significance
rs549727520	2:202,565,355	G/C	—	uncertain significance
rs41309068	2:202,565,372	G/A	—	benign
rs568221522	2:202,565,474	T/C	—	uncertain significance
rs983208576	2:202,565,481	G/A	—	uncertain significance
rs1689339340	2:202,565,495	T/C	—	uncertain significance
rs11300	2:202,565,570	C/T	—	benign
rs41309066	2:202,565,632	T/C	—	likely benign
rs572942753	2:202,565,662	T/C	—	uncertain significance
rs3219174	2:202,565,681	G/A	—	benign
rs41309062	2:202,565,731	C/T	—	benign
rs74933581	2:202,565,810	T/C	—	uncertain significance
rs905259072	2:202,565,988	C/T	—	uncertain significance
rs577282089	2:202,565,990	C/T	—	uncertain significance
rs183326117	2:202,566,070	C/T	—	uncertain significance
rs3219173	2:202,566,127	C/T	—	benign
rs535733859	2:202,566,148	A/T	—	uncertain significance
rs144613080	2:202,566,195	A/T	—	likely benign
rs1054683729	2:202,566,272	T/C	—	uncertain significance
rs3219172	2:202,566,411	T/C	—	likely benign
rs141509107	2:202,566,469	T/G	—	likely benign
rs561331219	2:202,566,559	A/C	—	uncertain significance
rs199751225	2:202,566,584	T/G	—	conflicting classifications of pathogenicity
rs190606035	2:202,566,590	C/T	—	uncertain significance
rs200416249	2:202,566,591	G/A	—	uncertain significance
rs1559025522	2:202,566,602	T/G	—	uncertain significance
rs1689412209	2:202,566,610	T/C	—	likely benign
rs2469670109	2:202,566,613	C/G	—	uncertain significance
rs115726485	2:202,566,732	C/A	—	likely benign
rs7603563	2:202,566,741	T/C	—	benign
rs3731707	2:202,566,764	C/T	—	benign
rs115186134	2:202,566,845	C/T	—	likely benign
rs7567758	2:202,568,564	A/G	—	benign
rs112891990	2:202,568,619	G/A	—	likely benign
rs1041450924	2:202,568,835	C/T	—	likely benign
rs1574653542	2:202,568,866	A/C	—	likely benign
rs1290433006	2:202,568,870	T/C	—	uncertain significance
rs1689551469	2:202,568,871	G/A	—	uncertain significance
rs905097885	2:202,568,874	C/T	—	uncertain significance
rs2469679699	2:202,568,881	C/T	—	likely benign
rs797044934	2:202,568,883	G/A	stop gained	pathogenic
rs200069179	2:202,568,899	T/C	—	likely benign
rs2105963102	2:202,568,902	A/T	—	uncertain significance
rs189412622	2:202,568,909	A/G	—	uncertain significance
rs1258953110	2:202,568,917	T/C	—	likely benign
rs767012535	2:202,568,919	C/T	—	conflicting classifications of pathogenicity
rs1559027755	2:202,568,922	C/T	—	uncertain significance
rs754172366	2:202,568,926	G/A	—	likely benign
rs1689557984	2:202,568,945	C/A	—	likely benign
rs375461979	2:202,568,952	G/A	—	likely benign
rs377218529	2:202,569,164	A/G	—	likely benign
rs2469681095	2:202,569,167	A/G	—	likely benign
rs1014953504	2:202,569,176	C/T	—	likely pathogenic
rs1689578448	2:202,569,178	T/A	—	uncertain significance
rs1689578912	2:202,569,183	C/T	—	conflicting classifications of pathogenicity
rs779186036	2:202,569,184	G/A	—	uncertain significance
rs370296035	2:202,569,195	T/A	—	uncertain significance
rs555220239	2:202,569,197	T/C	—	likely benign
rs772452966	2:202,569,198	A/G	—	uncertain significance
rs1689580631	2:202,569,207	G/A	—	likely pathogenic
rs369015911	2:202,569,242	G/A	—	likely benign
rs35110478	2:202,569,251	C/T	—	likely benign
rs540726634	2:202,569,252	G/A	—	uncertain significance
rs1254666631	2:202,569,254	C/T	—	likely benign
rs1454508336	2:202,569,264	T/A	—	uncertain significance
rs1411563415	2:202,569,282	G/A	—	uncertain significance
rs2105963799	2:202,569,290	G/A	—	likely benign
rs386134188	2:202,569,294	—	—	pathogenic
rs2469681880	2:202,569,307	C/G	—	uncertain significance
rs532630245	2:202,569,323	T/C	—	uncertain significance
rs2469682010	2:202,569,333	C/T	—	likely benign
rs755629995	2:202,569,336	A/G	—	likely benign
rs7598082	2:202,569,654	C/A	—	benign
rs139919006	2:202,569,847	C/T	—	likely benign
rs2469683799	2:202,569,880	T/C	—	likely pathogenic
rs1244653206	2:202,569,908	T/C	—	uncertain significance
rs759206593	2:202,569,909	C/T	—	likely benign
rs1472406927	2:202,569,910	G/A	—	uncertain significance
rs772918575	2:202,569,914	T/C	—	uncertain significance
rs760222980	2:202,569,923	C/A	—	uncertain significance
rs765859367	2:202,569,927	C/T	—	conflicting classifications of pathogenicity
rs764322790	2:202,569,928	A/G	—	likely benign
rs897800266	2:202,569,938	G/A	—	likely benign
rs3219171	2:202,569,992	A/T	—	benign
rs1419876377	2:202,570,127	A/C	—	likely benign
rs1366207920	2:202,570,129	T/C	—	likely benign
rs1157290648	2:202,570,132	A/G	—	likely benign
rs931003947	2:202,570,133	C/T	—	uncertain significance
rs1234882220	2:202,570,138	C/T	—	pathogenic
rs769071317	2:202,570,169	T/C	—	likely benign
rs760201551	2:202,570,174	G/C	—	uncertain significance
rs766074258	2:202,570,187	A/G	—	uncertain significance
rs114458388	2:202,570,191	T/C	—	likely benign
rs765259932	2:202,570,200	T/C	—	likely benign

Showing 100 of 897 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.