CIB2

calcium and integrin binding family member 2

Summary

The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Known Variants185 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11219687915:78,397,355G/C—likely benign
rs1163344415:78,397,468G/C—likely benign
rs7892521815:78,397,612G/A—benign
rs156704720515:78,397,659C/A—likely benign
rs128164859715:78,397,660C/T—conflicting classifications of pathogenicity
rs37035951115:78,397,661G/A—conflicting classifications of pathogenicity
rs139418754515:78,397,664T/G—uncertain significance
rs77473413315:78,397,665G/A—likely benign
rs156704723715:78,397,679A/G—likely benign
rs76287285415:78,397,682G/A—likely benign
rs125931609515:78,397,686G/A—likely benign
rs214187937115:78,397,691G/C—likely benign
rs20015376715:78,397,704G/A—likely benign
rs20220107415:78,397,719G/A—likely benign
rs14041690915:78,397,724G/A—likely benign
rs11503517315:78,397,810G/A—likely benign
rs716433815:78,397,846T/C—benign
rs37137107915:78,398,030C/T—likely benign
rs77995616915:78,398,061G/A—likely benign
rs74903160315:78,398,068G/A—likely benign
rs159634523715:78,398,070A/G—likely benign
rs207405761815:78,398,071G/A—likely benign
rs207405798015:78,398,080C/T—pathogenic
rs207405826915:78,398,091C/G—uncertain significance
rs214188025515:78,398,093G/A—uncertain significance
rs20054603115:78,398,100T/G—likely benign
rs55203933815:78,398,115C/T—uncertain significance
rs76840746115:78,398,116G/A—likely benign
rs207405960315:78,398,120T/A—uncertain significance
rs120228277615:78,398,133G/A—likely benign
rs74992037115:78,398,139C/T—uncertain significance
rs19979499815:78,398,140G/A—likely benign
rs254880738515:78,398,141T/G—uncertain significance
rs104001472615:78,398,143A/T—likely benign
rs75371440215:78,398,145C/T—uncertain significance
rs1045615:78,398,146G/A—benign
rs20033147815:78,398,150A/C—uncertain significance
rs207406059715:78,398,158C/T—likely benign
rs11715355815:78,398,161C/T—likely benign
rs120332456815:78,398,169C/A—uncertain significance
rs74708592715:78,398,170C/G—uncertain significance
rs56385920615:78,398,172T/C—uncertain significance
rs14193206115:78,398,175C/T—likely benign
rs37657793315:78,398,176G/A—likely benign
rs18528620515:78,398,190C/T—uncertain significance
rs77170841915:78,398,214T/C—uncertain significance
rs77274985615:78,398,216G/A—uncertain significance
rs19981906515:78,398,222C/A—uncertain significance
rs37237791915:78,398,223G/A—uncertain significance
rs3405773515:78,398,230C/T—benign
rs76487831015:78,398,231G/A—uncertain significance
rs75252370415:78,398,238C/A—pathogenic
rs117610344815:78,398,249T/C—uncertain significance
rs75876358615:78,398,254G/A—conflicting classifications of pathogenicity
rs39751541215:78,398,255A/Gmissense variantpathogenic
rs37483661915:78,398,257G/A—conflicting classifications of pathogenicity
rs214188077915:78,398,269G/A—likely benign
rs14627487115:78,398,271T/C—uncertain significance
rs136318845915:78,398,278T/G—likely pathogenic
rs123633548215:78,398,282G/A—likely benign
rs36949533215:78,398,283G/T—likely benign
rs122951423515:78,398,288G/A—uncertain significance
rs13833541115:78,398,486A/C—likely benign
rs5999949815:78,401,335A/C—benign
rs14969133115:78,401,345C/T—likely benign
rs11393670915:78,401,416G/A—likely benign
rs11189539015:78,401,442G/C—benign
rs1259206815:78,401,540A/T—benign
rs20175633015:78,401,542C/G—benign
rs77060183515:78,401,557C/T—likely benign
rs77606929015:78,401,561C/G—likely benign
rs20121094515:78,401,566G/A—likely benign
rs118963346015:78,401,590G/A—likely benign
rs214188708915:78,401,596G/C—uncertain significance
rs131688176615:78,401,600G/T—uncertain significance
rs214188711815:78,401,601C/T—uncertain significance
rs20069710315:78,401,612C/T—conflicting classifications of pathogenicity
rs105472891415:78,401,613G/A—pathogenic
rs156705001715:78,401,616G/A—uncertain significance
rs7737054215:78,401,620T/C—benign
rs138942517815:78,401,621G/A—uncertain significance
rs37096518315:78,401,626G/Asynonymous variantlikely benign
rs254880978215:78,401,628A/G—uncertain significance
rs14163870315:78,401,634C/T—uncertain significance
rs15051942615:78,401,635G/A—likely benign
rs76350245215:78,401,643T/C—uncertain significance
rs13951287215:78,401,644G/A—likely benign
rs116110121715:78,401,646C/T—uncertain significance
rs254880983115:78,401,647C/T—likely benign
rs39751541115:78,401,651A/Gmissense variantpathogenic
rs74917981415:78,401,656G/A—likely benign
rs76870313315:78,401,657T/G—uncertain significance
rs214188737215:78,401,662A/G—likely benign
rs207411973715:78,401,669T/G—uncertain significance
rs76164550015:78,401,674C/T—likely benign
rs207411992315:78,401,675T/C—uncertain significance
rs254880991115:78,401,677A/G—likely benign
rs20137216415:78,401,685C/T—uncertain significance
rs20040280315:78,401,686G/A—likely benign
rs14434652715:78,401,692C/T—conflicting classifications of pathogenicity

Showing 100 of 185 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.