ITGB3

integrin subunit beta 3

Summary

The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]

Known Variants650 total

rsidPosition (GRCh37)AllelesClassClinVar
rs231738517:45,329,682G/Aregulatory region variant—
rs7094081817:45,330,715T/Aupstream gene variant—
rs5582707717:45,331,083G/C—benign
rs11705225817:45,331,221G/C—benign
rs206497674217:45,331,228A/T—uncertain significance
rs123982320717:45,331,229T/C—uncertain significance
rs254760771317:45,331,231C/A—likely benign
rs133766460017:45,331,234G/C—uncertain significance
rs75252560317:45,331,243C/T—uncertain significance
rs76290775117:45,331,244G/A—uncertain significance
rs95145913917:45,331,245G/A—likely benign
rs99592458217:45,331,246C/T—uncertain significance
rs121680659717:45,331,247C/T—uncertain significance
rs102754899117:45,331,248C/G—likely benign
rs91000505417:45,331,250G/A—uncertain significance
rs126875511817:45,331,254G/A—likely benign
rs206497710617:45,331,257C/G—likely benign
rs102283909217:45,331,258T/C—pathogenic
rs105143017:45,331,262C/A—uncertain significance
rs75116314917:45,331,263G/T—likely benign
rs254760775017:45,331,266T/C—likely benign
rs11560059117:45,331,267G/A—benign
rs78071130117:45,331,276C/T—likely benign
rs206497738717:45,331,281G/A—likely benign
rs53465453417:45,331,284G/T—benign
rs54849590017:45,331,285C/T—benign
rs214905708317:45,331,286T/C—uncertain significance
rs77241877517:45,331,289C/T—uncertain significance
rs254760776917:45,331,290G/C—likely benign
rs77801338517:45,331,294G/T—uncertain significance
rs76826939417:45,331,299C/T—likely benign
rs117980473417:45,331,302A/G—likely benign
rs103704773117:45,331,306G/A—conflicting classifications of pathogenicity
rs206497753817:45,331,307G/A—pathogenic
rs254760778817:45,331,313G/T—likely benign
rs254760779217:45,331,315G/C—likely benign
rs148793046317:45,331,320C/T—likely benign
rs148045670617:45,331,321G/A—likely benign
rs90363727717:45,331,322G/A—likely benign
rs206497767217:45,331,323C/T—likely benign
rs129213864717:45,331,325C/A—likely benign
rs77109180817:45,331,326G/C—likely benign
rs1187140717:45,331,358C/G—benign
rs1187125117:45,331,427G/A—benign
rs11552618817:45,331,502C/A—benign
rs18727675217:45,333,093T/Cregulatory region variant—
rs1694177117:45,340,357C/Tupstream gene variant—
rs720970017:45,351,118A/Gintron variant—
rs807861417:45,351,505T/C—benign
rs385180717:45,351,519C/G—benign
rs254761352017:45,351,771T/C—likely benign
rs140148991817:45,351,786G/A—likely benign
rs96761115517:45,351,790A/G—uncertain significance
rs254761353417:45,351,797G/A—uncertain significance
rs6173687717:45,351,801C/T—likely benign
rs54427630017:45,351,803C/T—uncertain significance
rs143925646817:45,351,804G/A—likely benign
rs7542742817:45,351,805C/Tstop gainedpathogenic
rs76588255817:45,351,806G/A—uncertain significance
rs142242373117:45,351,807A/T—likely benign
rs254761355217:45,351,810T/C—likely benign
rs188049738317:45,351,820T/G—likely pathogenic
rs254761355917:45,351,823C/T—pathogenic
rs254761356017:45,351,826C/T—pathogenic
rs148900162517:45,351,834G/C—likely benign
rs254761357817:45,351,846C/T—likely benign
rs78162740717:45,351,860G/T—uncertain significance
rs214306873117:45,351,871G/T—pathogenic
rs136180158917:45,351,878G/A—likely benign
rs132459921017:45,351,883T/C—likely benign
rs254761361817:45,351,889A/G—likely benign
rs74937379617:45,360,706C/A—uncertain significance
rs254761581417:45,360,707T/C—likely benign
rs76862230717:45,360,708C/T—likely benign
rs122466445117:45,360,709C/T—likely benign
rs126946520317:45,360,712T/C—likely benign
rs254761582117:45,360,713C/T—likely benign
rs7535424017:45,360,718A/G—pathogenic
rs53076204017:45,360,725G/A—likely benign
rs115753416417:45,360,728T/C—likely benign
rs206509062217:45,360,729C/G—likely benign
rs591817:45,360,730T/Cmissense variantrisk factor
rs37310162817:45,360,734C/T—likely benign
rs206509076117:45,360,737A/G—likely benign
rs19986679517:45,360,741C/T—likely pathogenic
rs7455453917:45,360,745G/Amissense variantuncertain significance
rs75085509817:45,360,749C/T—likely benign
rs3608029617:45,360,751T/G—benign
rs78047944117:45,360,755G/A—likely benign
rs14295642317:45,360,794C/T—likely benign
rs145781943817:45,360,813G/C—uncertain significance
rs74799100117:45,360,815C/G—likely benign
rs139911395417:45,360,816C/T—pathogenic
rs20035866717:45,360,817G/A—uncertain significance
rs36852216417:45,360,818A/C—likely benign
rs254761589717:45,360,821A/T—likely benign
rs77607958517:45,360,827G/A—uncertain significance
rs138200612117:45,360,835C/T—uncertain significance
rs15112169117:45,360,839C/T—likely benign
rs37098021017:45,360,842C/T—likely benign

Showing 100 of 650 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.