ACTL6B

actin like 6B

Summary

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Known Variants101 total

rsidPosition (GRCh37)AllelesClassClinVar
rs10528977:100,240,771T/A—benign
rs15844661327:100,240,875G/T—conflicting classifications of pathogenicity
rs13737836397:100,240,883G/A—pathogenic
rs3774325687:100,240,889C/T—uncertain significance
rs13047565577:100,240,890G/T—likely pathogenic
rs7469649037:100,240,901C/A—pathogenic
rs18037563957:100,240,908C/T—likely benign
rs15844661637:100,240,919G/A—likely pathogenic
rs24861523287:100,240,927A/G—uncertain significance
rs21313307547:100,240,931A/G—uncertain significance
rs73838567:100,242,411G/T——
rs3746821417:100,243,886T/C—uncertain significance
rs14852965597:100,243,888G/C—uncertain significance
rs9867021537:100,243,895C/T—pathogenic
rs24861563397:100,243,901A/C—uncertain significance
rs24861563747:100,243,916G/A—uncertain significance
rs24861564027:100,243,937C/T—uncertain significance
rs21313330597:100,243,951C/T—likely pathogenic
rs7668971817:100,243,952G/A—pathogenic
rs15628479097:100,243,959C/T—pathogenic
rs24861568537:100,244,172A/T—uncertain significance
rs18038255027:100,244,176G/C—likely pathogenic
rs7551384937:100,244,200G/A—pathogenic
rs24861569467:100,244,239C/T—uncertain significance
rs9551710177:100,244,242C/T—likely pathogenic
rs11316922287:100,244,260C/T—pathogenic
rs13913850867:100,244,375G/A—uncertain significance
rs24861573047:100,244,381A/G—uncertain significance
rs18038303687:100,244,391C/G—uncertain significance
rs15628481427:100,244,392A/T—pathogenic
rs24861573307:100,244,393C/T—uncertain significance
rs24861573447:100,244,398G/A—likely benign
rs18038355227:100,244,589C/G—uncertain significance
rs5577772997:100,244,631C/T—uncertain significance
rs10604997387:100,244,637C/Tmissense variantpathogenic
rs21313336387:100,244,638G/A—pathogenic
rs18038362937:100,244,641C/T—uncertain significance
rs7553331657:100,244,645G/A—likely benign
rs24861580897:100,244,646C/T—likely pathogenic
rs24861580977:100,244,650A/C—likely pathogenic
rs1416400007:100,244,678G/A—likely pathogenic
rs24861581687:100,244,697T/C—uncertain significance
rs24861581747:100,244,698G/A—likely pathogenic
rs15628484257:100,244,847G/A—likely pathogenic
rs24861585507:100,244,853C/T—uncertain significance
rs1475824947:100,244,881G/A—likely benign
rs15628484557:100,244,897T/C—uncertain significance
rs7600965337:100,244,908C/T—uncertain significance
rs15628485567:100,245,086C/T—likely pathogenic
rs15628485687:100,245,102G/A—likely pathogenic
rs24861590857:100,245,105G/T—uncertain significance
rs1404224707:100,245,127G/A—likely benign
rs7647914217:100,245,131G/C—uncertain significance
rs7495312297:100,245,147G/A—uncertain significance
rs22311757:100,245,187C/Tupstream gene variant—
rs15844688177:100,246,178C/T—likely pathogenic
rs1996103357:100,246,188G/A—likely benign
rs7479629277:100,246,196A/G—conflicting classifications of pathogenicity
rs3683021877:100,246,215G/A—likely benign
rs15628489097:100,246,231A/G—likely pathogenic
rs21313347687:100,246,245C/T—uncertain significance
rs24861607977:100,246,253T/A—uncertain significance
rs748902547:100,246,260C/G—likely benign
rs24861609507:100,246,347C/T—uncertain significance
rs15844688917:100,246,358G/A—pathogenic
rs21313348397:100,246,360A/G—likely pathogenic
rs762798517:100,246,368G/A—likely benign
rs7734393767:100,246,370C/T—uncertain significance
rs24861610067:100,246,376G/A—uncertain significance
rs21313348727:100,246,391T/G—pathogenic
rs18038738627:100,246,394T/C—uncertain significance
rs21313348987:100,246,417A/G—likely pathogenic
rs24861610877:100,246,436C/T—uncertain significance
rs21313357517:100,247,668G/A—pathogenic
rs7576035057:100,247,739C/T—uncertain significance
rs7793212307:100,247,740G/A—likely pathogenic
rs5438032887:100,247,741C/T—likely benign
rs24861634727:100,247,753G/T—likely pathogenic
rs18039097497:100,247,759C/T—uncertain significance
rs5415907997:100,248,901C/T——
rs24861706387:100,252,641C/G—likely pathogenic
rs12884305407:100,252,655A/G—uncertain significance
rs24861706977:100,252,682G/A—uncertain significance
rs9297555227:100,252,722G/A—likely pathogenic
rs24861707517:100,252,732C/T—pathogenic
rs13343346737:100,253,067A/T—uncertain significance
rs15628512597:100,253,082T/C—uncertain significance
rs3678333217:100,253,105G/C—likely benign
rs24861716077:100,253,110C/T—uncertain significance
rs3722259597:100,253,111G/T—likely benign
rs18040232527:100,253,157A/G—uncertain significance
rs14161138137:100,253,162G/A—likely benign
rs1418077807:100,253,168C/G—likely benign
rs7734183547:100,253,200G/C—uncertain significance
rs5426693667:100,253,217G/T—likely benign
rs24861723297:100,253,443C/T—likely pathogenic
rs12491288477:100,253,457C/A—uncertain significance
rs24861723587:100,253,458G/A—likely pathogenic
rs24861723997:100,253,478T/G—uncertain significance
rs3735164477:100,253,507G/A—uncertain significance

Showing 100 of 101 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.