ITSN1

intersectin 1

Summary

The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]

Known Variants223 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs147523564	21:35,030,981	G/A	intron variant	—
rs73197982	21:35,048,741	C/T	intron variant	—
rs144313757	21:35,062,285	A/T	intron variant	—
rs11702148	21:35,089,712	G/T	intron variant	—
rs8134301	21:35,090,034	T/G	intron variant	—
rs114081097	21:35,090,865	G/C	—	benign
rs2518819727	21:35,091,143	T/C	—	uncertain significance
rs143930451	21:35,091,158	G/A	—	uncertain significance
rs13047880	21:35,093,523	G/A	—	likely benign
rs143777464	21:35,107,352	A/G	—	likely benign
rs765375043	21:35,107,362	A/G	—	uncertain significance
rs2516798388	21:35,107,407	A/G	—	uncertain significance
rs138677260	21:35,107,460	C/G	—	likely benign
rs1569054925	21:35,107,461	C/T	—	uncertain significance
rs2067451408	21:35,122,457	G/A	—	uncertain significance
rs1465823122	21:35,122,483	G/T	—	uncertain significance
rs2067455620	21:35,122,499	C/A	—	uncertain significance
rs375382856	21:35,122,540	G/T	—	uncertain significance
rs7276194	21:35,122,551	T/C	—	benign
rs1340587657	21:35,122,567	C/T	—	uncertain significance
rs754500876	21:35,122,570	C/T	—	likely benign
rs2276227	21:35,122,725	A/G	—	benign
rs2067581834	21:35,124,210	A/G	—	uncertain significance
rs2834255	21:35,124,253	A/G	—	benign
rs7280640	21:35,125,078	C/G	intron variant	—
rs2834256	21:35,125,373	A/T	intron variant	—
rs2244966	21:35,127,360	G/A	—	benign
rs368428356	21:35,127,595	C/G	—	likely benign
rs1456650663	21:35,127,701	A/G	—	uncertain significance
rs2154434	21:35,127,735	C/A	—	benign
rs2834259	21:35,133,091	C/A	—	—
rs2517248105	21:35,134,226	G/A	—	likely pathogenic
rs73199862	21:35,134,421	C/T	—	benign
rs147654153	21:35,138,174	A/G	—	benign
rs2147709709	21:35,138,177	A/G	—	uncertain significance
rs775871104	21:35,138,199	A/G	—	uncertain significance
rs2068690156	21:35,138,203	T/C	—	likely benign
rs201087456	21:35,138,206	A/G	—	likely benign
rs1602100784	21:35,138,265	G/A	—	uncertain significance
rs2517320170	21:35,138,298	A/G	—	uncertain significance
rs2248815	21:35,138,326	G/A	—	benign
rs115178190	21:35,140,007	G/A	—	benign
rs79522704	21:35,140,053	C/T	—	likely benign
rs763065231	21:35,140,063	G/A	—	uncertain significance
rs2068833447	21:35,140,130	C/T	—	uncertain significance
rs748624255	21:35,144,347	T/C	—	likely benign
rs770995793	21:35,144,401	G/A	—	uncertain significance
rs775749120	21:35,144,424	C/G	—	uncertain significance
rs200196886	21:35,144,485	G/A	—	likely benign
rs544261869	21:35,144,488	C/T	—	uncertain significance
rs2069219680	21:35,144,524	A/G	—	uncertain significance
rs1569146163	21:35,144,544	G/T	—	uncertain significance
rs2517422936	21:35,144,576	G/T	—	uncertain significance
rs2147788557	21:35,144,580	G/T	—	uncertain significance
rs373488298	21:35,144,596	A/C	—	uncertain significance
rs2517457403	21:35,147,082	A/G	—	uncertain significance
rs750751221	21:35,147,101	A/G	—	likely benign
rs536600868	21:35,147,190	A/C	—	likely benign
rs1049465197	21:35,147,312	T/C	—	uncertain significance
rs148635676	21:35,147,323	T/C	—	likely benign
rs112319566	21:35,147,382	C/T	—	benign
rs142578866	21:35,150,525	A/G	intron variant	—
rs71326967	21:35,150,947	A/T	—	—
rs746851508	21:35,153,762	C/T	—	likely benign
rs2517549493	21:35,153,783	G/A	—	uncertain significance
rs373643952	21:35,153,789	C/A	—	uncertain significance
rs142361441	21:35,153,814	A/G	—	likely benign
rs1197912762	21:35,153,834	C/G	—	uncertain significance
rs2070178626	21:35,153,857	G/T	—	uncertain significance
rs139132438	21:35,154,306	C/T	—	uncertain significance
rs143998140	21:35,154,314	A/G	—	likely benign
rs759585042	21:35,154,315	C/T	—	uncertain significance
rs1480529222	21:35,154,325	C/A	—	uncertain significance
rs2070234124	21:35,154,339	G/T	—	uncertain significance
rs1462347653	21:35,154,355	A/C	—	uncertain significance
rs1228689726	21:35,154,394	G/A	—	uncertain significance
rs1479636163	21:35,154,426	A/G	—	uncertain significance
rs182216168	21:35,156,750	T/A	intron variant	—
rs774528531	21:35,166,658	T/G	—	uncertain significance
rs2517724411	21:35,166,700	C/T	—	uncertain significance
rs2517725319	21:35,166,729	C/T	—	pathogenic
rs2517725728	21:35,166,750	A/G	—	uncertain significance
rs201226616	21:35,166,782	C/T	—	likely benign
rs2073368	21:35,166,803	G/T	—	benign
rs115546104	21:35,166,815	G/T	—	benign
rs2073369	21:35,166,945	A/G	—	benign
rs1400666294	21:35,169,684	C/T	—	pathogenic
rs2148042910	21:35,169,690	C/T	—	uncertain significance
rs2517767855	21:35,169,705	C/T	—	uncertain significance
rs758744871	21:35,169,718	A/G	—	uncertain significance
rs2148043473	21:35,169,733	A/G	—	uncertain significance
rs376139396	21:35,169,762	G/A	—	uncertain significance
rs139761574	21:35,169,801	A/G	—	uncertain significance
rs138849968	21:35,169,809	C/T	—	likely benign
rs762453980	21:35,169,850	G/A	—	uncertain significance
rs141317839	21:35,169,852	C/G	—	uncertain significance
rs2071658260	21:35,169,859	A/G	—	uncertain significance
rs763242335	21:35,172,120	C/T	—	uncertain significance
rs2517804159	21:35,172,121	C/T	—	uncertain significance
rs145376740	21:35,172,139	A/C	—	uncertain significance

Showing 100 of 223 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.