CIB1

calcium and integrin binding 1

Summary

This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

Known Variants138 total

rsidPosition (GRCh37)AllelesClassClinVar
rs250596809815:90,773,722G/T—likely benign
rs77115239915:90,773,726A/G—uncertain significance
rs75062005915:90,773,754C/T—likely benign
rs207370615:90,773,782C/T—benign
rs207370515:90,774,039C/T—benign
rs139394204315:90,774,149G/A—likely benign
rs37685822215:90,774,152G/T—likely benign
rs250596920315:90,774,153A/G—likely benign
rs95757770515:90,774,170C/G—uncertain significance
rs129253063215:90,774,173A/G—uncertain significance
rs75304312715:90,774,174G/T—uncertain significance
rs215163456715:90,774,182A/T—uncertain significance
rs14580345915:90,774,184C/T—uncertain significance
rs74799113315:90,774,195G/A—likely benign
rs196246696315:90,774,213G/T—uncertain significance
rs147647083915:90,774,214T/C—uncertain significance
rs77292507715:90,774,244T/A—uncertain significance
rs74545543915:90,774,257G/A—uncertain significance
rs104481315:90,774,259G/C—benign
rs135356388515:90,774,265G/C—likely benign
rs76349192715:90,774,267G/C—likely benign
rs75832829115:90,774,308G/A—likely benign
rs37720027815:90,774,313G/C—likely benign
rs91493327415:90,774,326C/T—likely pathogenic
rs14662189115:90,774,329T/C—uncertain significance
rs20129886715:90,774,332C/A—uncertain significance
rs56307589415:90,774,333G/C—uncertain significance
rs76230081015:90,774,336G/A—likely benign
rs250596978615:90,774,340T/C—uncertain significance
rs3464571415:90,774,348C/T—benign
rs14497523615:90,774,354C/T—likely benign
rs56081085115:90,774,355G/A—uncertain significance
rs3495836515:90,774,357A/G—benign
rs76185915815:90,774,364C/T—uncertain significance
rs77765409015:90,774,365G/A—uncertain significance
rs215163475815:90,774,367G/C—uncertain significance
rs75706286015:90,774,371C/T—uncertain significance
rs76506168415:90,774,374C/T—uncertain significance
rs14145666515:90,774,375G/A—likely benign
rs36861738915:90,774,385G/A—uncertain significance
rs77512217715:90,774,402C/G—likely benign
rs77502119215:90,774,404G/A—uncertain significance
rs15042146515:90,774,411G/A—likely benign
rs87903203415:90,774,420G/A—likely benign
rs76793336715:90,774,423C/G—uncertain significance
rs76649125615:90,774,431C/T—uncertain significance
rs75507870215:90,774,435A/G—likely benign
rs131649770815:90,774,436T/C—uncertain significance
rs19955703415:90,774,451G/A—likely benign
rs20090623115:90,774,454C/G—likely benign
rs250597018315:90,774,456G/T—likely benign
rs77988615515:90,774,462G/C—likely benign
rs196247971815:90,774,463G/A—likely benign
rs37514897515:90,774,581G/A—likely benign
rs74749764215:90,774,597C/T—uncertain significance
rs76998918715:90,774,608A/G—likely benign
rs77559432915:90,774,612G/A—uncertain significance
rs76290907715:90,774,619T/G—uncertain significance
rs250597055815:90,774,621T/C—uncertain significance
rs14278423515:90,774,626C/T—benign
rs14740599015:90,774,627G/A—uncertain significance
rs13976446015:90,774,636T/C—uncertain significance
rs76495533215:90,774,649T/G—uncertain significance
rs76648518715:90,774,651A/G—uncertain significance
rs215163504315:90,774,665G/A—likely benign
rs56223787915:90,774,691C/G—uncertain significance
rs74620839915:90,774,694G/A—uncertain significance
rs101145537915:90,774,698T/C—likely benign
rs77560531815:90,774,720C/T—uncertain significance
rs14377309015:90,774,721G/A—pathogenic
rs55735257715:90,774,735T/C—uncertain significance
rs128225290015:90,774,739C/T—uncertain significance
rs120962210115:90,774,744G/A—likely benign
rs36945916915:90,774,753C/T—likely benign
rs207370315:90,775,397G/A—benign
rs141645234115:90,775,436G/A—likely benign
rs77534734415:90,775,437G/A—likely benign
rs20057495515:90,775,443G/A—likely benign
rs118982954915:90,775,447G/C—uncertain significance
rs75107005015:90,775,453T/C—uncertain significance
rs75093503915:90,775,481G/A—likely benign
rs97992574015:90,775,482A/G—uncertain significance
rs20170040615:90,775,497C/T—uncertain significance
rs57271402815:90,775,498G/C—uncertain significance
rs77793148515:90,775,505C/T—likely benign
rs36946570115:90,775,506G/A—uncertain significance
rs87894715815:90,775,511C/T—likely benign
rs19015523115:90,775,513C/T—uncertain significance
rs112780115:90,775,514G/T—uncertain significance
rs37634090015:90,775,517C/T—likely benign
rs74776577615:90,775,518C/T—uncertain significance
rs14412462115:90,775,527T/C—uncertain significance
rs77805317215:90,775,549G/T—likely benign
rs76965931815:90,775,550C/T—likely benign
rs20021748515:90,775,572G/A—likely benign
rs52936995015:90,775,583G/A—likely benign
rs129963992215:90,775,593G/T—uncertain significance
rs75989073615:90,775,594C/T—uncertain significance
rs37577345215:90,775,595G/A—likely benign
rs250597197715:90,775,596A/C—uncertain significance

Showing 100 of 138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.