ITSN2

intersectin 2

Summary

This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]

Known Variants244 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs112277321	2:24,426,438	C/G	—	benign
rs149080724	2:24,426,555	G/A	—	likely benign
rs144802071	2:24,426,588	A/G	—	benign
rs201407243	2:24,426,599	T/G	—	uncertain significance
rs202091169	2:24,426,634	T/G	—	likely benign
rs745450832	2:24,426,653	C/G	—	uncertain significance
rs754705076	2:24,427,104	C/T	—	likely benign
rs750743467	2:24,427,167	T/C	—	uncertain significance
rs552809326	2:24,427,195	T/C	—	uncertain significance
rs571018575	2:24,427,203	C/G	—	uncertain significance
rs147454224	2:24,427,250	G/A	—	likely benign
rs2465425763	2:24,428,100	T/G	—	uncertain significance
rs483352731	2:24,428,113	C/A	—	uncertain significance
rs753909288	2:24,428,131	T/A	—	uncertain significance
rs779165909	2:24,428,137	G/A	—	uncertain significance
rs375882726	2:24,428,140	C/T	—	likely benign
rs1181898919	2:24,428,159	G/A	—	likely benign
rs201234803	2:24,431,111	T/C	—	uncertain significance
rs138517130	2:24,431,123	C/T	—	likely benign
rs3208747	2:24,431,127	T/G	—	likely benign
rs201345506	2:24,431,159	G/A	—	uncertain significance
rs2303291	2:24,431,184	C/T	—	benign
rs370151156	2:24,432,006	G/A	—	uncertain significance
rs2303292	2:24,432,138	C/T	—	benign
rs2303293	2:24,432,211	T/C	—	benign
rs2303294	2:24,432,620	A/G	—	benign
rs2303295	2:24,432,667	C/G	—	benign
rs768842538	2:24,432,687	C/T	—	uncertain significance
rs188839242	2:24,432,688	G/A	—	uncertain significance
rs369035944	2:24,432,712	T/C	—	uncertain significance
rs371503725	2:24,432,746	A/G	—	uncertain significance
rs2465510233	2:24,432,772	T/C	—	uncertain significance
rs148365890	2:24,432,835	T/G	—	benign
rs2303296	2:24,432,839	A/G	—	benign
rs1669308861	2:24,432,862	C/T	—	uncertain significance
rs908283641	2:24,432,863	G/A	—	uncertain significance
rs2303297	2:24,432,937	C/T	—	benign
rs779355070	2:24,433,652	C/T	—	likely benign
rs534527339	2:24,433,673	G/A	—	likely benign
rs553084105	2:24,433,695	C/T	—	uncertain significance
rs1553340826	2:24,433,698	T/C	—	uncertain significance
rs574855488	2:24,433,701	G/C	—	uncertain significance
rs139218934	2:24,433,716	C/T	—	uncertain significance
rs111712240	2:24,433,799	C/T	—	benign
rs148753185	2:24,433,806	T/C	—	uncertain significance
rs781660667	2:24,435,563	T/C	—	uncertain significance
rs149888722	2:24,438,967	A/C	—	uncertain significance
rs1397785004	2:24,438,983	G/A	—	uncertain significance
rs774447213	2:24,438,991	C/G	—	uncertain significance
rs750073294	2:24,439,020	G/C	—	likely benign
rs147788725	2:24,439,031	C/T	—	uncertain significance
rs3731625	2:24,439,048	A/G	—	benign
rs138733436	2:24,439,060	G/A	—	uncertain significance
rs146336289	2:24,439,077	G/A	—	likely benign
rs749923599	2:24,439,080	C/G	—	uncertain significance
rs758160883	2:24,439,087	C/T	—	uncertain significance
rs141797059	2:24,439,094	G/A	—	uncertain significance
rs13021828	2:24,439,276	G/C	—	benign
rs371495788	2:24,440,869	C/T	—	uncertain significance
rs2551183	2:24,440,997	A/T	—	benign
rs376658504	2:24,443,758	A/G	—	likely benign
rs369405758	2:24,443,817	G/A	—	likely benign
rs150580767	2:24,443,819	C/T	—	likely benign
rs947556724	2:24,443,823	G/A	—	likely benign
rs746720955	2:24,443,840	T/C	—	uncertain significance
rs144159139	2:24,443,841	G/A	—	likely benign
rs550433341	2:24,443,845	C/T	—	uncertain significance
rs1290188548	2:24,443,872	A/C	—	uncertain significance
rs76543468	2:24,443,897	T/C	—	benign
rs376544881	2:24,443,898	T/A	—	likely benign
rs143402065	2:24,443,910	G/A	—	likely benign
rs2543666	2:24,446,042	C/G	—	—
rs78265103	2:24,468,191	A/T	intron variant	—
rs200963427	2:24,469,024	G/A	—	uncertain significance
rs755203715	2:24,469,034	C/T	—	uncertain significance
rs561453795	2:24,469,061	C/G	—	uncertain significance
rs367952937	2:24,469,064	C/T	—	uncertain significance
rs148366891	2:24,469,065	G/A	—	likely benign
rs770959633	2:24,469,070	T/C	—	uncertain significance
rs2465940528	2:24,469,099	T/A	—	uncertain significance
rs765369357	2:24,469,120	T/C	—	uncertain significance
rs529026492	2:24,469,135	C/G	—	uncertain significance
rs1042593994	2:24,469,719	T/C	—	uncertain significance
rs755592783	2:24,469,746	C/T	—	uncertain significance
rs11890533	2:24,471,474	T/C	—	benign
rs1448496809	2:24,471,535	T/G	—	uncertain significance
rs574146488	2:24,471,563	C/T	—	uncertain significance
rs746025712	2:24,471,573	T/C	—	likely benign
rs137994569	2:24,471,585	A/G	—	likely benign
rs375106887	2:24,471,597	T/C	—	likely benign
rs536603640	2:24,471,605	T/C	—	uncertain significance
rs986541574	2:24,471,743	C/T	—	likely benign
rs1313084970	2:24,471,768	C/T	—	likely benign
rs375754280	2:24,471,769	C/T	—	likely benign
rs530826083	2:24,474,238	G/A	—	—
rs552573927	2:24,474,240	G/A	—	—
rs4450560	2:24,475,205	T/C	—	benign
rs144152229	2:24,475,269	A/G	—	uncertain significance
rs2466083648	2:24,475,329	A/C	—	uncertain significance
rs2466084325	2:24,475,346	T/A	—	uncertain significance

Showing 100 of 244 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.