EXOC3L2

exocyst complex component 3 like 2

Summary

The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017]

Known Variants104 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11083766	19:45,715,490	T/C	regulatory region variant	—
rs11083767	19:45,715,680	T/C	downstream gene variant	—
rs8102712	19:45,715,717	C/G	—	—
rs370326702	19:45,716,333	C/G	—	uncertain significance
rs768632277	19:45,716,340	C/T	—	conflicting classifications of pathogenicity
rs199587359	19:45,716,346	C/T	—	uncertain significance
rs201597405	19:45,716,348	C/T	—	benign
rs200836902	19:45,716,357	C/T	—	likely benign
rs189063316	19:45,716,364	C/T	—	benign
rs530109127	19:45,716,365	G/A	—	uncertain significance
rs779999765	19:45,716,370	C/T	—	uncertain significance
rs748055208	19:45,716,371	G/A	—	uncertain significance
rs181444579	19:45,716,389	T/C	—	benign
rs774038504	19:45,716,408	G/T	—	likely benign
rs376415591	19:45,716,410	G/C	—	uncertain significance
rs142412403	19:45,716,467	G/C	—	uncertain significance
rs111862689	19:45,716,471	G/T	—	likely benign
rs760177432	19:45,716,475	G/A	—	uncertain significance
rs530663749	19:45,716,521	A/G	—	likely benign
rs372471842	19:45,716,542	C/T	—	uncertain significance
rs762329905	19:45,716,548	G/C	—	uncertain significance
rs763222027	19:45,716,560	G/A	—	uncertain significance
rs759841252	19:45,716,574	C/T	—	uncertain significance
rs756258972	19:45,716,590	C/T	—	uncertain significance
rs1399228854	19:45,716,605	C/T	—	uncertain significance
rs777339452	19:45,719,349	C/T	—	uncertain significance
rs771544428	19:45,719,350	G/A	—	uncertain significance
rs746231519	19:45,719,383	G/C	—	uncertain significance
rs34958174	19:45,719,426	G/A	—	benign
rs1969832818	19:45,719,446	G/C	—	uncertain significance
rs2513864905	19:45,719,450	C/G	—	uncertain significance
rs73568208	19:45,719,463	G/C	—	benign
rs370905823	19:45,719,472	C/T	—	likely benign
rs1018908216	19:45,720,769	C/G	—	likely benign
rs537383499	19:45,720,776	C/T	—	likely benign
rs759472317	19:45,720,794	G/C	—	uncertain significance
rs768964166	19:45,720,852	G/A	—	likely benign
rs748327889	19:45,721,466	C/T	—	uncertain significance
rs369579237	19:45,721,548	C/T	—	likely benign
rs1167649151	19:45,721,552	C/T	—	uncertain significance
rs773062401	19:45,721,553	G/A	—	uncertain significance
rs762507650	19:45,721,555	C/T	—	uncertain significance
rs143444923	19:45,721,556	G/A	—	uncertain significance
rs1969860270	19:45,721,592	G/A	—	likely benign
rs3826909	19:45,721,596	G/A	—	benign
rs10406604	19:45,723,986	G/A	downstream gene variant	—
rs346757	19:45,725,448	G/T	—	—
rs112909419	19:45,726,968	G/A	intron variant	—
rs1454529260	19:45,728,051	C/G	—	likely benign
rs10411314	19:45,728,059	T/C	—	benign
rs777456650	19:45,728,065	C/T	—	uncertain significance
rs546141963	19:45,728,066	G/A	—	likely benign
rs2513872095	19:45,728,067	A/G	—	uncertain significance
rs145422378	19:45,728,070	C/T	—	uncertain significance
rs537583453	19:45,728,071	G/C	—	uncertain significance
rs145255138	19:45,728,082	C/T	—	likely benign
rs2513872162	19:45,728,110	A/T	—	uncertain significance
rs10410003	19:45,728,123	C/T	—	benign
rs933190598	19:45,728,128	C/T	—	uncertain significance
rs151207947	19:45,728,148	C/T	—	uncertain significance
rs755147222	19:45,728,163	G/A	—	uncertain significance
rs346762	19:45,729,123	T/C	intron variant	—
rs112405270	19:45,730,238	C/T	intron variant	—
rs773731403	19:45,730,902	C/T	—	likely benign
rs144153757	19:45,730,965	T/C	—	uncertain significance
rs368887693	19:45,731,020	G/A	—	uncertain significance
rs772308631	19:45,731,255	G/A	—	uncertain significance
rs766109742	19:45,731,277	C/T	—	uncertain significance
rs138431712	19:45,731,278	G/A	—	uncertain significance
rs759287672	19:45,731,279	C/T	—	likely benign
rs755627368	19:45,731,300	G/A	—	likely benign
rs73939819	19:45,731,302	G/A	—	uncertain significance
rs538391435	19:45,731,305	G/A	—	benign
rs143336723	19:45,731,310	C/T	—	uncertain significance
rs346767	19:45,731,339	G/C	—	benign
rs115648030	19:45,731,348	C/T	—	benign
rs2513875637	19:45,731,427	C/A	—	uncertain significance
rs576842051	19:45,731,441	C/A	—	likely benign
rs187345620	19:45,731,483	G/A	—	benign
rs1969988155	19:45,731,489	C/A	—	uncertain significance
rs2122975686	19:45,731,493	A/T	—	pathogenic
rs377481666	19:45,731,503	G/C	—	uncertain significance
rs1434807586	19:45,731,509	C/T	—	uncertain significance
rs75426681	19:45,731,515	G/T	—	benign
rs2513875859	19:45,731,523	G/A	—	uncertain significance
rs114777882	19:45,731,531	T/C	—	benign
rs1210049434	19:45,731,539	G/A	—	likely benign
rs757415310	19:45,735,036	G/A	—	likely benign
rs201110701	19:45,735,090	C/T	—	likely benign
rs79744739	19:45,735,252	A/G	regulatory region variant	—
rs150907907	19:45,735,900	T/C	intron variant	—
rs17356664	19:45,740,771	C/T	upstream gene variant	—
rs11669910	19:45,741,333	A/T	upstream gene variant	—
rs11669915	19:45,741,353	A/G	upstream gene variant	—
rs576309785	19:45,741,978	C/T	—	uncertain significance
rs11673000	19:45,742,011	C/G	coding sequence variant	—
rs11673093	19:45,742,094	G/A	coding sequence variant	—
rs183657985	19:45,742,498	C/G	—	—
rs145605569	19:45,742,902	C/T	intron variant	—
rs55787807	19:45,743,135	G/T	—	—

Showing 100 of 104 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.