ITGB4

integrin subunit beta 4

Summary

Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants1,291 total

rsidPosition (GRCh37)AllelesClassClinVar
rs147374770217:73,717,544A/C—uncertain significance
rs55200804217:73,717,578G/C—conflicting classifications of pathogenicity
rs57156458917:73,717,635C/T—uncertain significance
rs88605340717:73,717,680T/C—uncertain significance
rs56707624117:73,720,793C/T—uncertain significance
rs37485584017:73,720,797G/A—conflicting classifications of pathogenicity
rs77589845017:73,720,798C/T—likely benign
rs254570962117:73,720,809G/A—pathogenic
rs93466522117:73,720,817C/T—likely benign
rs56057477217:73,720,826G/A—conflicting classifications of pathogenicity
rs76335298217:73,720,832T/C—likely benign
rs14577355017:73,720,840C/T—benign
rs127072303317:73,720,843C/T—likely benign
rs89315792517:73,720,852T/C—likely benign
rs119910510317:73,720,858C/G—likely benign
rs11339045917:73,720,863G/A—likely pathogenic
rs75460795717:73,720,868T/C—uncertain significance
rs76698669717:73,720,872C/T—likely benign
rs75221759717:73,720,873G/A—likely benign
rs134229694017:73,720,879C/T—likely benign
rs82016717:73,720,900A/G—benign
rs15131705317:73,723,070G/A—likely benign
rs258410017:73,723,239G/A—benign
rs78132599217:73,723,255G/A—likely benign
rs116734100517:73,723,258C/T—likely benign
rs254571853517:73,723,267C/T—likely benign
rs13869532417:73,723,280C/T—uncertain significance
rs206073704317:73,723,288G/C—uncertain significance
rs74532286617:73,723,292G/A—uncertain significance
rs126906214617:73,723,294C/T—likely benign
rs97232201917:73,723,305G/T—uncertain significance
rs76713604817:73,723,306C/T—likely benign
rs12191246517:73,723,307T/Cmissense variantpathogenic
rs119847894717:73,723,309C/T—likely benign
rs76030303417:73,723,312G/A—likely benign
rs254571898417:73,723,327G/C—likely benign
rs15002326417:73,723,339C/T—likely benign
rs37652396717:73,723,342C/T—likely benign
rs254571908417:73,723,345C/T—likely benign
rs77476461517:73,723,354C/T—likely benign
rs36893738417:73,723,365C/A—likely benign
rs20085353517:73,723,366C/T—conflicting classifications of pathogenicity
rs124606274017:73,723,372C/T—likely benign
rs75340636617:73,723,373G/A—likely benign
rs76296824317:73,723,467C/T—likely benign
rs104365458217:73,723,468C/G—likely benign
rs76602877717:73,723,469C/T—likely benign
rs128620723517:73,723,470T/C—likely benign
rs75135933217:73,723,471G/T—likely benign
rs254572016917:73,723,480G/A—likely benign
rs75632353217:73,723,481C/G—likely benign
rs54413697317:73,723,497C/T—likely benign
rs147322991217:73,723,499G/A—likely benign
rs55039233817:73,723,500C/T—uncertain significance
rs74630503317:73,723,501G/A—uncertain significance
rs254572031317:73,723,502C/A—likely benign
rs8033875517:73,723,504G/Amissense variantpathogenic
rs20096615417:73,723,516C/T—uncertain significance
rs37279788617:73,723,517G/A—likely benign
rs101532133417:73,723,520G/A—likely benign
rs254572043017:73,723,523G/C—likely benign
rs254572043717:73,723,524C/T—likely benign
rs77695320817:73,723,529C/T—likely benign
rs20050031317:73,723,532G/A—conflicting classifications of pathogenicity
rs139293951417:73,723,539C/T—pathogenic
rs77279045917:73,723,542C/T—uncertain significance
rs254572064317:73,723,547G/A—likely benign
rs76273270217:73,723,553C/T—likely benign
rs55783610817:73,723,554G/A—conflicting classifications of pathogenicity
rs97369426517:73,723,559C/A—likely benign
rs77411052417:73,723,565G/A—likely benign
rs94547080417:73,723,593G/A—likely benign
rs76979073017:73,723,594G/A—likely benign
rs76733317517:73,723,604T/C—likely benign
rs254572109717:73,723,605G/A—likely benign
rs78170526317:73,723,714C/T—likely benign
rs143598710417:73,723,716C/G—likely benign
rs36957665517:73,723,718T/C—likely benign
rs254572189217:73,723,720C/T—likely benign
rs156834331417:73,723,722C/T—likely benign
rs76949074617:73,723,725G/A—likely benign
rs254572196017:73,723,730A/G—likely pathogenic
rs14660935017:73,723,749C/T—likely benign
rs37304133717:73,723,752C/T—conflicting classifications of pathogenicity
rs36932640517:73,723,756C/T—uncertain significance
rs77527124517:73,723,757G/A—uncertain significance
rs147156517417:73,723,758G/A—likely benign
rs75044355017:73,723,766A/G—uncertain significance
rs76312900917:73,723,772C/T—uncertain significance
rs75206153517:73,723,773C/T—likely benign
rs128973728217:73,723,775C/T—uncertain significance
rs76326807517:73,723,776C/A—likely benign
rs76440526517:73,723,777C/T—pathogenic
rs56883516417:73,723,779A/G—conflicting classifications of pathogenicity
rs77752234317:73,723,786C/T—uncertain significance
rs74892510117:73,723,787G/A—uncertain significance
rs77840942517:73,723,795C/T—likely benign
rs14138592617:73,723,798C/T—conflicting classifications of pathogenicity
rs20000894617:73,723,799G/A—uncertain significance
rs76987260517:73,723,803C/T—likely benign

Showing 100 of 1,291 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.