CD81

CD81 molecule

Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Known Variants218 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54426923611:2,398,422T/C—benign
rs37688356611:2,398,777G/A—uncertain significance
rs53233238911:2,398,788G/C—likely benign
rs86881759811:2,398,790A/G—uncertain significance
rs76108098911:2,398,802A/G—uncertain significance
rs249644805111:2,398,805G/A—uncertain significance
rs76657869811:2,398,806C/T—likely benign
rs77691241211:2,398,816C/T—likely benign
rs249644825511:2,398,827C/G—likely benign
rs104681493511:2,398,828T/C—uncertain significance
rs75253434811:2,398,839C/T—likely benign
rs249644843011:2,398,849A/G—uncertain significance
rs127320408311:2,398,856C/G—likely benign
rs1102254211:2,405,626C/A——
rs1083192411:2,408,981T/Cintron variant—
rs70856411:2,410,099C/Tintron variant—
rs1227806311:2,411,368G/A—benign
rs1229167611:2,411,536C/T—benign
rs213345545411:2,411,622C/A—likely benign
rs213345546011:2,411,623T/A—likely benign
rs55119238111:2,411,627C/T—benign
rs18863433511:2,411,629C/T—benign
rs184987696111:2,411,633C/T—likely benign
rs78059790711:2,411,644G/A—uncertain significance
rs249650861711:2,411,646C/T—uncertain significance
rs3440053111:2,411,653C/T—likely benign
rs213345558111:2,411,662G/C—likely benign
rs96777280111:2,411,670C/G—uncertain significance
rs74823692111:2,411,671C/A—likely benign
rs145803810211:2,411,680C/G—likely benign
rs77205261111:2,411,681C/T—uncertain significance
rs37410069411:2,411,682G/A—uncertain significance
rs74694674611:2,411,685A/T—uncertain significance
rs77093726011:2,411,691C/T—uncertain significance
rs143801476411:2,411,694A/G—uncertain significance
rs249650911611:2,411,697C/A—uncertain significance
rs156499323211:2,411,698C/T—likely benign
rs75938218211:2,411,699A/G—uncertain significance
rs37081904711:2,411,701C/G—likely benign
rs77512752711:2,411,703A/G—uncertain significance
rs76353387611:2,411,719G/T—uncertain significance
rs249650940011:2,411,720C/A—uncertain significance
rs75090328211:2,411,727A/G—uncertain significance
rs249650946011:2,411,730A/G—uncertain significance
rs20036537211:2,411,734C/T—likely benign
rs118475225411:2,411,735G/A—uncertain significance
rs36861142311:2,411,736C/T—uncertain significance
rs75407150311:2,411,737G/A—likely benign
rs97783614311:2,411,746C/T—likely benign
rs77921419811:2,411,752T/C—likely benign
rs96137534611:2,411,764C/T—likely benign
rs18163325411:2,411,767A/G—likely benign
rs74833640111:2,411,774C/G—likely benign
rs77768103711:2,411,775G/T—likely benign
rs74715886911:2,411,776C/T—likely benign
rs381506111:2,411,996T/C—benign
rs249652681811:2,415,305G/C—likely benign
rs57536060711:2,415,307T/C—likely benign
rs123212527411:2,415,310C/G—likely benign
rs213346219011:2,415,314C/T—likely benign
rs19968289511:2,415,319C/T—likely benign
rs56226141411:2,415,320G/A—conflicting classifications of pathogenicity
rs135881981611:2,415,321C/T—likely benign
rs249652710711:2,415,333A/G—uncertain significance
rs56437174311:2,415,338C/T—likely benign
rs74798338111:2,415,341C/T—likely benign
rs75807089211:2,415,342G/A—uncertain significance
rs77757596811:2,415,350C/T—likely benign
rs249652728811:2,415,354G/A—uncertain significance
rs77584044211:2,415,365C/T—benign
rs132215408411:2,415,370G/C—uncertain significance
rs249652745011:2,415,375C/T—likely benign
rs117859296611:2,415,385A/G—uncertain significance
rs37212904211:2,415,416G/A—likely benign
rs128403286811:2,415,418G/A—uncertain significance
rs76072739211:2,415,421C/T—uncertain significance
rs57320006911:2,415,430A/G—likely benign
rs7895401611:2,415,437C/T—benign
rs249652793011:2,415,441C/A—likely benign
rs80035011:2,415,964A/G—benign
rs1228582411:2,415,986G/A—benign
rs1227734111:2,416,118G/A—benign
rs249653180811:2,416,184G/A—likely benign
rs184996970311:2,416,188C/T—likely benign
rs184996977111:2,416,192C/T—likely benign
rs36783404511:2,416,193C/T—likely benign
rs158985358611:2,416,196C/T—likely benign
rs77339764811:2,416,198C/T—likely benign
rs20208641711:2,416,210C/T—benign
rs77671951411:2,416,213C/T—likely benign
rs148140315511:2,416,225G/T—likely benign
rs249653221011:2,416,237G/A—likely benign
rs13808654511:2,416,246C/T—likely benign
rs75688548311:2,416,247G/A—uncertain significance
rs132763067711:2,416,264C/T—likely benign
rs78072117011:2,416,266A/G—uncertain significance
rs213346406011:2,416,273C/A—uncertain significance
rs249653257011:2,416,274C/T—uncertain significance
rs74870008811:2,416,275A/G—uncertain significance
rs77239272711:2,416,289G/A—likely benign

Showing 100 of 218 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.