ITGA6

integrin subunit alpha 6

Summary

The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

Known Variants556 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2141698	2:173,290,395	T/C	regulatory region variant	—
rs886055127	2:173,292,361	G/A	—	uncertain significance
rs144682022	2:173,292,379	G/A	—	benign
rs373890886	2:173,292,395	C/T	—	uncertain significance
rs1683908595	2:173,292,489	C/A	—	uncertain significance
rs144341070	2:173,292,503	C/G	—	benign
rs774450070	2:173,292,522	C/T	—	likely benign
rs908598952	2:173,292,525	C/A	—	likely benign
rs201418157	2:173,292,526	G/A	—	likely benign
rs201026395	2:173,292,528	C/G	—	likely benign
rs2468165178	2:173,292,531	G/C	—	likely benign
rs76775089	2:173,292,535	C/T	—	likely benign
rs2148985359	2:173,292,537	G/A	—	likely benign
rs1163393333	2:173,292,540	C/T	—	likely benign
rs373112270	2:173,292,546	C/T	—	likely benign
rs2468165400	2:173,292,555	G/C	—	likely benign
rs1683915769	2:173,292,558	G/A	—	likely benign
rs150472149	2:173,292,571	C/T	—	uncertain significance
rs140763977	2:173,292,576	C/T	—	likely benign
rs2468165774	2:173,292,604	G/T	—	pathogenic
rs771118805	2:173,292,618	C/T	—	likely benign
rs1683920794	2:173,292,624	A/G	—	likely benign
rs776183303	2:173,292,633	C/T	—	likely benign
rs761245728	2:173,292,635	C/T	—	uncertain significance
rs761372308	2:173,292,651	C/T	—	likely benign
rs377085042	2:173,292,654	C/T	—	likely benign
rs1377038208	2:173,292,656	C/T	—	likely pathogenic
rs138572695	2:173,292,664	A/G	—	likely benign
rs544002743	2:173,292,665	T/C	—	uncertain significance
rs374272135	2:173,292,673	C/G	—	uncertain significance
rs1683924617	2:173,292,678	G/A	—	likely benign
rs1255176355	2:173,292,692	A/C	—	uncertain significance
rs1342662499	2:173,292,706	C/G	—	likely benign
rs6744873	2:173,292,709	A/G	—	benign
rs6716540	2:173,292,713	C/T	—	benign
rs6731763	2:173,292,728	T/C	—	benign
rs114295497	2:173,292,789	G/T	—	benign
rs6716781	2:173,292,885	C/T	—	benign
rs75979419	2:173,299,266	C/T	regulatory region variant	—
rs13027811	2:173,300,673	A/G	regulatory region variant	—
rs10207654	2:173,307,756	A/G	regulatory region variant	—
rs146618443	2:173,309,803	G/C	—	—
rs12621278	2:173,311,553	A/G	regulatory region variant	benign
rs1574259	2:173,313,453	C/T	regulatory region variant	—
rs12052250	2:173,314,670	A/G	—	—
rs116532339	2:173,321,791	T/C	—	—
rs12471315	2:173,329,965	T/A	—	benign
rs2468282347	2:173,330,247	T/G	—	likely benign
rs199769834	2:173,330,251	T/C	—	likely benign
rs1685620637	2:173,330,257	T/G	—	likely benign
rs2468282402	2:173,330,261	C/T	—	likely benign
rs2468282436	2:173,330,268	T/C	—	likely benign
rs748573831	2:173,330,273	C/T	—	likely benign
rs143545213	2:173,330,285	G/A	—	likely benign
rs759112479	2:173,330,297	G/T	—	likely benign
rs200193154	2:173,330,324	G/A	—	likely benign
rs200919733	2:173,330,342	C/T	—	likely benign
rs748713488	2:173,330,351	C/T	—	likely benign
rs1559133279	2:173,330,352	G/A	—	uncertain significance
rs771279582	2:173,330,369	G/A	—	likely benign
rs774030841	2:173,330,370	C/A	—	likely benign
rs887884775	2:173,330,378	G/A	—	likely benign
rs763884633	2:173,330,387	C/T	—	likely benign
rs753805092	2:173,330,388	G/A	—	uncertain significance
rs2468283382	2:173,330,406	C/G	—	likely benign
rs201712079	2:173,330,408	C/T	—	likely benign
rs3749148	2:173,330,549	T/G	—	benign
rs16860456	2:173,330,707	G/C	—	benign
rs6433359	2:173,331,936	C/T	—	benign
rs2272498	2:173,331,974	A/T	—	benign
rs6433360	2:173,332,015	G/T	—	benign
rs2272499	2:173,332,115	G/A	—	benign
rs746562488	2:173,332,193	A/G	—	likely benign
rs2468290869	2:173,332,210	T/C	—	likely benign
rs141735531	2:173,332,213	C/T	—	likely benign
rs374453759	2:173,332,214	C/T	—	uncertain significance
rs1685730501	2:173,332,219	G/A	—	likely benign
rs2468290965	2:173,332,232	G/A	—	uncertain significance
rs1415408091	2:173,332,234	A/G	—	likely benign
rs2468291013	2:173,332,244	A/T	—	uncertain significance
rs2468291202	2:173,332,273	A/G	—	likely benign
rs757719097	2:173,332,285	C/T	—	likely benign
rs2149039042	2:173,332,288	G/T	—	pathogenic
rs2468291355	2:173,332,289	G/A	—	likely pathogenic
rs1362166732	2:173,332,297	A/G	—	likely benign
rs1398086708	2:173,332,299	A/T	—	likely benign
rs900697847	2:173,332,302	C/T	—	likely benign
rs1382567700	2:173,332,305	A/C	—	likely benign
rs1685735631	2:173,332,307	G/A	—	likely benign
rs143515232	2:173,332,523	T/C	—	benign
rs17676773	2:173,333,720	G/A	—	benign
rs1375971788	2:173,333,836	C/A	—	likely benign
rs1574028	2:173,333,840	A/C	—	benign
rs373690577	2:173,333,845	G/A	—	likely benign
rs2149041171	2:173,333,848	T/G	—	pathogenic
rs866151033	2:173,333,865	C/T	—	pathogenic
rs1032065669	2:173,333,870	T/C	—	likely benign
rs199977185	2:173,333,893	C/T	—	uncertain significance
rs140628012	2:173,333,894	G/A	—	likely benign
rs2468297096	2:173,333,900	G/A	—	likely benign

Showing 100 of 556 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.