RBFOX3

RNA binding fox-1 homolog 3

Summary

This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]

Known Variants252 total

rsidPosition (GRCh37)AllelesClassClinVar
rs99036004417:77,086,970A/G—uncertain significance
rs250997220417:77,086,979A/T—likely benign
rs101066052017:77,090,515C/T—likely benign
rs75271652417:77,090,516G/A—likely benign
rs214620961917:77,090,517G/A—likely benign
rs55260493517:77,090,520C/T—likely benign
rs145191054117:77,090,524G/T—likely benign
rs75790388117:77,090,527C/T—uncertain significance
rs207472261617:77,090,542A/C—uncertain significance
rs251004834417:77,090,543A/G—uncertain significance
rs207472305917:77,090,548G/A—likely benign
rs138099813117:77,090,552G/A—uncertain significance
rs122868256017:77,090,554C/T—likely benign
rs129436337417:77,090,555G/A—uncertain significance
rs130543288717:77,090,557C/T—likely benign
rs141742747017:77,090,558G/A—uncertain significance
rs100359394717:77,090,559C/T—uncertain significance
rs125821592917:77,090,566G/A—likely benign
rs37309380717:77,090,581C/T—likely benign
rs120848061317:77,090,582G/A—uncertain significance
rs147330737517:77,090,586C/T—uncertain significance
rs99072860117:77,090,587G/A—likely benign
rs78066178417:77,090,596G/A—likely benign
rs119786545617:77,090,605G/A—likely benign
rs214621166717:77,090,606C/A—uncertain significance
rs97254869017:77,090,608G/T—pathogenic
rs131137304617:77,090,620G/C—uncertain significance
rs91864140717:77,090,623C/T—likely benign
rs93410889517:77,090,624G/A—likely benign
rs207474234517:77,090,630G/C—likely benign
rs143076304717:77,090,631G/C—likely benign
rs76510881717:77,091,582C/T—likely benign
rs7908059817:77,091,586C/T—likely benign
rs98555137817:77,091,587G/A—likely benign
rs55118963217:77,091,600G/A—likely benign
rs120105578717:77,091,609T/A—likely benign
rs75442596317:77,091,612C/T—likely benign
rs115785473217:77,091,613G/A—uncertain significance
rs78086516917:77,091,615C/T—likely benign
rs89163202517:77,091,616G/A—uncertain significance
rs11297851017:77,091,623C/T—conflicting classifications of pathogenicity
rs57099410517:77,091,624G/A—likely benign
rs103612276417:77,091,632C/T—uncertain significance
rs53989792417:77,091,633G/A—benign
rs214625428517:77,091,637C/G—uncertain significance
rs214625444417:77,091,644C/T—uncertain significance
rs144084462517:77,091,647C/G—uncertain significance
rs99218601517:77,091,648G/A—likely benign
rs74615623817:77,091,651G/A—likely benign
rs88775860117:77,091,664G/A—likely benign
rs159938635717:77,091,666A/G—likely benign
rs214625537317:77,091,675G/A—likely benign
rs119679253617:77,092,717C/A—likely benign
rs126015069517:77,092,718G/A—likely benign
rs37744417917:77,092,720C/G—likely benign
rs145902359517:77,092,721G/T—likely benign
rs207533297117:77,092,743C/T—uncertain significance
rs147490351717:77,092,759A/G—likely benign
rs88667063117:77,092,768C/T—likely benign
rs146569099017:77,092,770C/A—uncertain significance
rs75577132417:77,093,356C/T—likely benign
rs95195348017:77,093,358C/T—likely benign
rs207551193617:77,093,360G/A—likely benign
rs100511598217:77,093,365G/A—likely benign
rs140613816117:77,093,374G/T—uncertain significance
rs101503895217:77,093,379G/A—likely benign
rs86694306417:77,093,388G/A—likely benign
rs54405175617:77,093,391G/T—likely benign
rs91154042017:77,093,394G/C—likely benign
rs120466404817:77,093,396G/A—uncertain significance
rs138138366917:77,093,411C/T—uncertain significance
rs159939629017:77,093,415A/C—uncertain significance
rs55147651017:77,093,420T/C—uncertain significance
rs92189941617:77,093,429C/T—uncertain significance
rs75865611617:77,093,430G/A—likely benign
rs144454595617:77,093,433C/G—likely benign
rs251011927417:77,093,440C/T—uncertain significance
rs117008577517:77,093,441G/A—uncertain significance
rs122756225117:77,093,442G/A—likely benign
rs56522069617:77,093,450G/T—uncertain significance
rs214631286217:77,093,453G/T—uncertain significance
rs147940301817:77,093,456C/T—uncertain significance
rs251011970617:77,093,461C/G—uncertain significance
rs156811983617:77,093,464T/A—uncertain significance
rs214631308117:77,093,468C/G—uncertain significance
rs92552141317:77,093,472G/A—likely benign
rs122283172617:77,093,481G/C—likely benign
rs167156807517:77,093,482G/A—uncertain significance
rs145681587517:77,093,483T/C—uncertain significance
rs120101499517:77,093,484G/A—likely benign
rs37037207917:77,093,488G/T—benign
rs251012014317:77,093,491T/C—uncertain significance
rs54764396817:77,093,510C/A—benign
rs142468139317:77,093,512G/A—likely benign
rs207554606717:77,093,513G/A—likely benign
rs117004028517:77,093,517C/G—likely benign
rs99937455217:77,093,519G/A—likely benign
rs146725280017:77,093,523C/T—uncertain significance
rs57821808917:77,093,755G/T—likely benign
rs74822987017:77,093,756C/T—likely benign

Showing 100 of 252 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.