ITGB6

integrin subunit beta 6

Summary

This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Known Variants132 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4470295	2:160,957,824	C/A	—	—
rs7586751	2:160,958,145	T/C	—	benign
rs202190549	2:160,958,343	T/C	—	benign
rs4078236	2:160,958,459	A/T	—	benign
rs4078235	2:160,958,460	A/T	—	benign
rs56082404	2:160,958,485	A/G	—	benign
rs13009231	2:160,964,057	G/T	—	benign
rs13008664	2:160,964,059	A/G	—	benign
rs6724949	2:160,964,100	C/A	—	benign
rs540109604	2:160,964,212	C/T	—	uncertain significance
rs199651918	2:160,964,213	G/T	—	likely benign
rs370595727	2:160,964,223	A/G	—	likely benign
rs146397669	2:160,964,288	C/G	—	uncertain significance
rs777918545	2:160,964,345	G/T	—	uncertain significance
rs13010138	2:160,964,457	G/A	—	benign
rs10497212	2:160,964,700	T/G	intron variant	—
rs77820689	2:160,967,604	C/T	intron variant	—
rs12987481	2:160,968,278	A/G	—	benign
rs72977408	2:160,968,387	G/A	—	benign
rs2469129132	2:160,968,608	T/G	—	uncertain significance
rs139804091	2:160,968,612	T/A	—	uncertain significance
rs16844790	2:160,968,628	A/G	—	benign
rs11895959	2:160,968,838	G/T	—	benign
rs16844802	2:160,970,735	C/A	—	—
rs565085574	2:160,972,478	G/C	—	—
rs182298626	2:160,976,181	T/C	intron variant	—
rs755421198	2:160,980,313	C/A	—	uncertain significance
rs201818641	2:160,980,321	C/T	—	likely benign
rs150971153	2:160,980,322	G/A	—	likely benign
rs376329044	2:160,980,373	G/A	—	uncertain significance
rs370714170	2:160,980,391	A/G	—	uncertain significance
rs2469175358	2:160,982,883	A/C	—	likely benign
rs1683243157	2:160,982,914	C/G	—	uncertain significance
rs144493660	2:160,982,926	C/T	—	uncertain significance
rs730880297	2:160,982,927	G/A	stop gained	pathogenic
rs2469175874	2:160,982,966	C/A	—	uncertain significance
rs562634905	2:160,982,991	G/A	—	likely benign
rs200492977	2:160,982,996	C/T	—	likely benign
rs201047218	2:160,983,033	C/T	—	benign
rs2305819	2:160,983,060	G/C	—	benign
rs2469176722	2:160,983,086	A/G	—	uncertain significance
rs143914557	2:160,983,104	C/A	—	uncertain significance
rs1683256077	2:160,983,115	G/C	—	likely pathogenic
rs10179610	2:160,983,167	A/G	—	benign
rs1457236	2:160,983,345	T/G	—	benign
rs572879277	2:160,990,554	A/G	—	—
rs564236282	2:160,993,413	G/C	—	—
rs35720878	2:160,993,800	A/T	—	benign
rs144680666	2:160,993,954	G/A	—	uncertain significance
rs144967638	2:160,993,972	C/T	—	uncertain significance
rs61737765	2:160,993,973	G/A	—	benign
rs1418523966	2:160,993,984	T/C	—	uncertain significance
rs1383537674	2:160,993,991	C/G	—	uncertain significance
rs184765465	2:160,994,028	A/G	—	uncertain significance
rs752829523	2:160,994,088	G/T	—	uncertain significance
rs776181453	2:160,994,140	G/A	—	uncertain significance
rs193920975	2:160,994,145	C/T	—	uncertain significance
rs769477320	2:160,994,146	C/T	—	uncertain significance
rs1329310318	2:160,994,150	G/T	—	uncertain significance
rs933477694	2:160,994,188	A/T	—	uncertain significance
rs55841905	2:160,994,197	C/T	—	benign
rs142197545	2:160,994,200	G/T	—	conflicting classifications of pathogenicity
rs61737764	2:160,994,293	C/T	—	benign
rs61748239	2:160,994,306	A/C	—	uncertain significance
rs1156821	2:160,994,348	C/T	—	benign
rs755642266	2:160,994,350	C/T	—	uncertain significance
rs756971112	2:160,994,362	C/A	—	uncertain significance
rs778559332	2:160,994,366	G/A	—	likely benign
rs147650138	2:160,994,630	G/A	—	benign
rs374723421	2:160,994,643	G/A	—	uncertain significance
rs766195598	2:160,994,644	C/G	—	uncertain significance
rs2469215482	2:160,994,670	G/C	—	uncertain significance
rs76007773	2:160,994,764	A/G	—	benign
rs57436568	2:160,994,768	G/C	—	benign
rs4473342	2:160,994,845	A/G	—	benign
rs780288634	2:160,998,501	C/G	—	uncertain significance
rs1684017004	2:160,998,522	T/C	—	uncertain significance
rs2469224632	2:160,998,551	A/C	—	uncertain significance
rs148922939	2:160,998,570	G/A	—	uncertain significance
rs140967203	2:160,998,576	C/T	—	uncertain significance
rs113506485	2:160,998,581	T/G	—	conflicting classifications of pathogenicity
rs3755547	2:160,998,792	A/C	—	benign
rs149923249	2:161,010,398	C/G	intron variant	—
rs535877765	2:161,015,507	G/T	—	—
rs7608557	2:161,025,685	A/G	—	benign
rs142185271	2:161,025,742	T/C	—	uncertain significance
rs138313490	2:161,025,771	G/A	—	likely benign
rs376927196	2:161,025,798	T/C	—	benign
rs1037694	2:161,028,992	C/T	—	benign
rs779692470	2:161,029,103	C/T	missense variant	pathogenic
rs746639859	2:161,029,105	T/C	—	uncertain significance
rs768415795	2:161,029,110	G/T	—	uncertain significance
rs1574117742	2:161,029,119	G/T	—	uncertain significance
rs576531469	2:161,029,145	C/T	—	uncertain significance
rs754214308	2:161,029,146	G/A	—	likely benign
rs730882118	2:161,029,176	A/T	missense variant	pathogenic
rs61737770	2:161,029,182	A/T	—	likely benign
rs2305818	2:161,029,218	G/A	—	benign
rs149747755	2:161,029,226	G/A	—	uncertain significance
rs532660177	2:161,029,234	A/T	—	uncertain significance

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.