ITGB2

integrin subunit beta 2

Summary

This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Known Variants680 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605711421:46,305,880G/A—uncertain significance
rs11798967021:46,305,913A/C—benign
rs54104736221:46,305,994T/C—likely benign
rs657021:46,306,112C/G—benign
rs95281558521:46,306,113G/A—uncertain significance
rs75532893721:46,306,115C/A—uncertain significance
rs56125127121:46,306,116G/A—likely benign
rs75309849021:46,306,135G/A—uncertain significance
rs116026321:46,306,138T/G—uncertain significance
rs68421:46,306,161T/C—benign
rs37514693421:46,306,162G/A—benign
rs11463225321:46,306,245A/G—likely benign
rs76288119821:46,306,283C/T—uncertain significance
rs37206406121:46,306,291C/G—uncertain significance
rs75047781721:46,306,298C/G—uncertain significance
rs135016683621:46,306,301G/A—likely benign
rs251706767321:46,306,308A/C—uncertain significance
rs19219768421:46,306,310G/A—conflicting classifications of pathogenicity
rs14538584321:46,306,313C/T—likely benign
rs20044801521:46,306,316C/G—likely benign
rs142140816521:46,306,324C/T—uncertain significance
rs37593142421:46,306,325G/A—likely benign
rs160127686721:46,306,360A/G—likely benign
rs145315144021:46,306,365G/A—likely benign
rs23537521:46,306,472C/G—benign
rs3397356821:46,306,594G/A—benign
rs503067321:46,306,607C/T—benign
rs139576284321:46,306,631C/G—likely benign
rs37218517621:46,306,632C/T—likely benign
rs74916752721:46,306,638G/A—likely benign
rs36945454621:46,306,640C/T—likely benign
rs14724822921:46,306,641G/A—conflicting classifications of pathogenicity
rs214649095421:46,306,644C/A—likely benign
rs77326214621:46,306,651A/G—uncertain significance
rs37217694721:46,306,687G/A—likely benign
rs13871411921:46,306,688C/T—uncertain significance
rs146401579921:46,306,698C/A—pathogenic
rs76580056521:46,306,700C/T—uncertain significance
rs37593089621:46,306,708G/A—likely benign
rs14076705821:46,306,709C/T—conflicting classifications of pathogenicity
rs75000229421:46,306,726C/T—likely benign
rs214649117921:46,306,744G/C—likely benign
rs75345298721:46,306,749T/C—conflicting classifications of pathogenicity
rs17936387221:46,306,751C/G—not provided
rs106479429721:46,306,752C/Gmissense variantpathogenic
rs14459044821:46,306,753G/A—conflicting classifications of pathogenicity
rs37366878421:46,306,756C/G—likely benign
rs126187134621:46,306,757A/G—uncertain significance
rs77120158121:46,306,766C/A—uncertain significance
rs77668953021:46,306,770C/T—uncertain significance
rs77580997021:46,306,773C/T—uncertain significance
rs13805004321:46,306,777G/T—likely benign
rs214649130821:46,306,778C/G—uncertain significance
rs133848319621:46,306,779C/A—uncertain significance
rs20220334021:46,306,782C/T—uncertain significance
rs76429814421:46,306,783G/C—likely benign
rs37306582521:46,306,785C/T—uncertain significance
rs76038680821:46,306,786G/A—likely benign
rs104585927621:46,306,791C/T—uncertain significance
rs76619903521:46,306,792G/A—likely benign
rs54003845421:46,306,794C/T—uncertain significance
rs75449207621:46,306,795G/A—likely benign
rs99202263321:46,306,808G/A—uncertain significance
rs208370784321:46,306,810C/G—likely benign
rs214649154621:46,306,837C/A—likely benign
rs88254921:46,308,441A/C—benign
rs74869895421:46,308,591C/T—likely benign
rs20144875721:46,308,599C/T—likely benign
rs76955820921:46,308,600G/A—likely benign
rs104431130721:46,308,602C/G—uncertain significance
rs20033568121:46,308,610C/T—uncertain significance
rs208373440021:46,308,611G/A—likely pathogenic
rs87901790621:46,308,615C/G—uncertain significance
rs11788418621:46,308,630G/C—likely benign
rs75628218321:46,308,636G/A—likely benign
rs78036176421:46,308,637C/T—uncertain significance
rs14723801021:46,308,638G/A—conflicting classifications of pathogenicity
rs77886577721:46,308,647C/T—uncertain significance
rs37153921121:46,308,648G/A—likely benign
rs37429365721:46,308,659C/T—uncertain significance
rs98668112121:46,308,661A/T—uncertain significance
rs36928389721:46,308,663C/T—likely benign
rs77827832821:46,308,664G/A—conflicting classifications of pathogenicity
rs132962281721:46,308,674C/A—uncertain significance
rs94237572521:46,308,675C/Tstop gainedpathogenic
rs56504297321:46,308,684C/G—uncertain significance
rs74892308321:46,308,693C/T—likely benign
rs53244544921:46,308,705G/T—likely benign
rs208373672721:46,308,706G/A—uncertain significance
rs37699004521:46,308,719C/T—uncertain significance
rs76610668621:46,308,720G/A—conflicting classifications of pathogenicity
rs54552461521:46,308,729C/T—likely benign
rs89934976921:46,308,730G/A—uncertain significance
rs214649615321:46,308,740G/A—likely benign
rs13984079021:46,308,744C/T—conflicting classifications of pathogenicity
rs37396362421:46,308,745G/A—uncertain significance
rs37771380421:46,308,750C/T—likely benign
rs20141364721:46,308,751G/A—uncertain significance
rs37104599821:46,308,754G/A—conflicting classifications of pathogenicity
rs14211249921:46,308,755C/A—uncertain significance

Showing 100 of 680 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.