C1QBP

complement C1q binding protein

Summary

The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]

Known Variants118 total

rsidPosition (GRCh37)AllelesClassClinVar
rs105045617:5,336,188A/G—benign
rs105046117:5,336,210T/C—benign
rs74679091917:5,336,341G/C—uncertain significance
rs191613567317:5,336,346T/G—uncertain significance
rs191613638217:5,336,357T/C—uncertain significance
rs155553248317:5,336,360A/G—pathogenic
rs155553248417:5,336,361G/A—pathogenic
rs191613815817:5,336,379T/C—uncertain significance
rs99793017017:5,336,392C/T—likely benign
rs77273709317:5,336,397G/C—uncertain significance
rs191614048317:5,336,422A/G—likely benign
rs76792693517:5,336,431A/G—likely benign
rs139449913717:5,336,445C/A—pathogenic
rs74617017617:5,336,448G/A—pathogenic
rs36927904617:5,336,451C/T—uncertain significance
rs77178549217:5,336,452G/A—likely benign
rs11660789417:5,336,467T/C—benign
rs19235981417:5,336,490A/G—likely benign
rs18549747017:5,336,492G/T—likely benign
rs36893519917:5,336,504C/T—likely benign
rs722064017:5,336,594C/A—benign
rs74882514517:5,336,596C/A—likely benign
rs136957811717:5,336,609T/G—uncertain significance
rs101087422417:5,336,634G/A—likely benign
rs14412231417:5,336,666C/T—likely benign
rs11581959017:5,336,669C/T—uncertain significance
rs76742719417:5,336,700G/Cmissense variantpathogenic
rs250776247417:5,336,705T/G—uncertain significance
rs75608193017:5,336,720C/T—uncertain significance
rs18446124217:5,336,721G/A—likely benign
rs14867091717:5,336,724T/G—uncertain significance
rs14214912917:5,336,736C/T—likely pathogenic
rs37027099117:5,336,753T/C—likely benign
rs479026417:5,336,791G/T—benign
rs77937912717:5,336,987A/T—conflicting classifications of pathogenicity
rs74849746917:5,337,008C/Gmissense variantpathogenic
rs250776340517:5,337,029T/G—uncertain significance
rs14895310717:5,337,039C/G—likely benign
rs14780098517:5,337,047A/G—uncertain significance
rs76391971317:5,337,076T/C—likely benign
rs124150321117:5,337,081G/A—likely benign
rs250776364417:5,337,094A/C—uncertain significance
rs228574717:5,337,137G/Cdownstream gene variantbenign
rs250776593117:5,338,195C/T—uncertain significance
rs53565774417:5,338,220C/T—likely benign
rs54915244317:5,338,225G/A—uncertain significance
rs250776603317:5,338,239T/A—uncertain significance
rs75222676217:5,338,258T/G—uncertain significance
rs13960578817:5,338,265A/G—likely benign
rs53940087817:5,338,269T/C—uncertain significance
rs75770230217:5,338,280C/T—likely benign
rs5601402617:5,338,281A/G—benign
rs74604154917:5,338,283G/T—likely benign
rs77220187417:5,338,293C/T—likely benign
rs36876834217:5,338,294G/A—likely benign
rs378605417:5,339,059G/Adownstream gene variant—
rs247261417:5,341,050G/A——
rs77791899517:5,341,424T/C—likely benign
rs74952469417:5,341,435G/C—likely benign
rs20041606017:5,341,436T/C—likely benign
rs14757065617:5,341,445T/C—likely benign
rs37570780717:5,341,450C/T—uncertain significance
rs56531799417:5,341,451G/T—likely benign
rs191632597717:5,341,472C/T—likely benign
rs14068177617:5,341,481C/T—likely benign
rs250776982517:5,341,495G/A—likely benign
rs145241524717:5,341,508A/T—likely benign
rs250776986717:5,341,509G/C—uncertain significance
rs191632687117:5,341,519G/T—uncertain significance
rs15027668417:5,341,535C/T—likely benign
rs250776994317:5,341,547T/G—uncertain significance
rs250776994917:5,341,550C/T—likely benign
rs121622585717:5,341,561C/T—uncertain significance
rs74820788917:5,341,562A/G—likely benign
rs250776999917:5,341,575T/C—uncertain significance
rs191632899617:5,341,584G/C—uncertain significance
rs14584815517:5,341,585C/T—likely benign
rs250777003417:5,341,589G/A—likely benign
rs149026896217:5,341,597G/A—likely benign
rs180543517:5,341,749A/G—benign
rs143755677917:5,342,142C/G—likely benign
rs121036013217:5,342,145G/A—likely benign
rs117717646817:5,342,148C/T—likely benign
rs98372426817:5,342,159C/T—likely benign
rs191634353617:5,342,162C/T—uncertain significance
rs105289290417:5,342,176G/C—uncertain significance
rs101858468517:5,342,184G/C—likely benign
rs90015358917:5,342,187A/G—likely benign
rs250777117617:5,342,188C/A—uncertain significance
rs75199425517:5,342,208G/C—likely benign
rs250777127117:5,342,214C/T—likely benign
rs57572839417:5,342,225C/T—likely benign
rs76789214817:5,342,226C/G—likely benign
rs146405179717:5,342,227G/A—uncertain significance
rs93354936017:5,342,230C/G—uncertain significance
rs119938044117:5,342,242C/T—uncertain significance
rs145724500717:5,342,256G/A—likely benign
rs14802778817:5,342,265G/A—benign
rs126036185217:5,342,274G/A—likely benign
rs75620836517:5,342,280C/T—likely benign

Showing 100 of 118 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.