RBM8A

RNA binding motif protein 8A

Summary

This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]

Known Variants60 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5877195021:145,506,609T/C——
rs49708501:145,507,253G/A—benign
rs1394282921:145,507,646G/Tcoding sequence variantconflicting classifications of pathogenicity
rs7603830431:145,507,648G/T—pathogenic
rs15537562011:145,507,672G/C—likely benign
rs7824687681:145,507,696T/C—likely benign
rs7825992001:145,507,702C/G—uncertain significance
rs25254641291:145,507,711C/T—likely benign
rs7822413121:145,507,744T/C—likely benign
rs15537561741:145,507,746G/A—likely benign
rs3743217441:145,507,750C/T—likely benign
rs2017798901:145,507,765G/Ccoding sequence variantpathogenic
rs15537561571:145,507,767G/C—pathogenic
rs1158788721:145,507,787A/G—likely benign
rs8727861:145,507,826A/T—benign
rs15537561081:145,507,998T/C—likely benign
rs15537561071:145,508,001C/T—likely benign
rs1122733211:145,508,010T/C—likely benign
rs7823172291:145,508,012C/T—likely benign
rs7823178791:145,508,013C/T—uncertain significance
rs7820724021:145,508,094G/A—likely benign
rs592853511:145,508,146C/A—benign
rs2016865611:145,508,190G/C—likely benign
rs1859274261:145,508,198C/T—likely benign
rs1908276951:145,508,200C/T—likely benign
rs13136639181:145,508,205A/G—pathogenic
rs16481885721:145,508,217C/T—likely benign
rs7828077581:145,508,231G/C—uncertain significance
rs7826415371:145,508,256G/A—likely benign
rs1154175611:145,508,301C/A—likely benign
rs1170174311:145,508,455T/C—likely benign
rs13515980971:145,508,457C/G—likely benign
rs12927636291:145,508,461C/G—likely benign
rs13508097301:145,508,462C/A—pathogenic
rs3975153881:145,508,476——pathogenic
rs18068511:145,508,509C/T—likely benign
rs7819692481:145,508,524C/T—likely benign
rs2011568151:145,508,534A/G—likely benign
rs25254603881:145,508,545A/G—likely benign
rs25254603771:145,508,548C/T—likely benign
rs1390972711:145,508,587C/T—likely benign
rs2008367211:145,508,630T/C—likely benign
rs7822343301:145,508,897G/C—likely benign
rs3711797271:145,508,899C/T—likely benign
rs12734238361:145,508,903T/C—likely benign
rs21018777911:145,508,914A/G—pathogenic
rs15537558391:145,508,918G/A—likely benign
rs12610344501:145,508,976A/C—uncertain significance
rs1440629761:145,508,977A/G—uncertain significance
rs15537558261:145,508,995G/A—uncertain significance
rs7822362791:145,509,028G/T—uncertain significance
rs21018775561:145,509,052G/A—uncertain significance
rs7823359481:145,509,064A/G—likely benign
rs1149239291:145,509,067G/A—benign
rs7825593061:145,509,158T/G—likely benign
rs16481277791:145,509,161C/T—likely benign
rs3975153891:145,509,173C/Tstop gainedpathogenic
rs120797621:145,509,217C/T—pathogenic
rs132751:145,509,319C/T—likely benign
rs13552445031:145,511,796T/TG—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.