SMARCC2

SWI/SNF related BAF chromatin remodeling complex subunit C2

Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants197 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7640008312:56,556,817T/Cdownstream gene variant—
rs18126716512:56,557,512C/T—likely benign
rs86462203912:56,557,541T/G—uncertain significance
rs7409200712:56,557,588G/A—benign
rs77218996212:56,558,156C/T—uncertain significance
rs14522996912:56,558,157G/A—likely benign
rs20195416112:56,558,173G/A—conflicting classifications of pathogenicity
rs254083616612:56,558,184C/A—uncertain significance
rs100852126712:56,558,221G/C—uncertain significance
rs122745356712:56,558,235C/T—likely benign
rs76263244412:56,558,248G/A—uncertain significance
rs76556359912:56,558,261G/A—uncertain significance
rs19973117612:56,558,318G/C—likely benign
rs75173046012:56,558,321C/T—uncertain significance
rs7723805412:56,558,351G/C—likely benign
rs139593438412:56,558,360A/C—uncertain significance
rs187243252312:56,558,384G/A—uncertain significance
rs93446984112:56,558,387G/A—uncertain significance
rs14126534212:56,558,394A/C—likely benign
rs7592444112:56,558,397C/T—likely benign
rs14531857712:56,558,438C/T—uncertain significance
rs254083803012:56,558,462C/T—uncertain significance
rs254083803512:56,558,464G/A—uncertain significance
rs74783086812:56,558,477T/C—likely benign
rs128692455812:56,558,479G/A—uncertain significance
rs7670111212:56,558,483G/A—likely benign
rs77480444612:56,558,518G/A—likely benign
rs213563588312:56,559,102C/T—uncertain significance
rs187256785012:56,559,110C/A—uncertain significance
rs78052488412:56,559,112A/G—likely benign
rs74982007512:56,559,113G/C—uncertain significance
rs14468576112:56,559,114G/T—likely benign
rs254084229012:56,559,205C/G—uncertain significance
rs77100202612:56,559,233G/A—uncertain significance
rs77677884012:56,559,236G/T—uncertain significance
rs187259425312:56,559,242C/T—uncertain significance
rs76389529012:56,559,257G/A—uncertain significance
rs76267448712:56,559,276C/G—uncertain significance
rs142467435712:56,559,279C/T—likely benign
rs90099545712:56,559,326A/T—uncertain significance
rs120301776012:56,559,335G/A—uncertain significance
rs254084363312:56,559,356G/T—uncertain significance
rs254084378012:56,559,378G/T—uncertain significance
rs121337969412:56,559,402G/A—uncertain significance
rs11659543012:56,559,415C/T—benign
rs14517849312:56,559,454G/A—likely benign
rs254085943712:56,561,840T/C—uncertain significance
rs120475755212:56,561,857C/T—uncertain significance
rs254085960612:56,561,864T/C—uncertain significance
rs213566210012:56,561,898G/C—uncertain significance
rs156589644712:56,561,915T/C—pathogenic
rs254085990212:56,561,922C/G—uncertain significance
rs187319300812:56,561,923T/C—likely pathogenic
rs156589647412:56,561,929A/G—uncertain significance
rs254086752012:56,563,335G/A—uncertain significance
rs1785236812:56,563,346G/A—benign
rs143316129412:56,563,383C/T—uncertain significance
rs54087851612:56,563,408C/T—uncertain significance
rs74711223112:56,563,454T/C—likely benign
rs75161872212:56,563,562A/G—uncertain significance
rs14868800912:56,563,585G/A—likely benign
rs77840921812:56,563,602C/T—likely benign
rs19001407912:56,563,603G/A—likely benign
rs159228442012:56,563,644T/C—uncertain significance
rs20075836112:56,563,652T/C—likely benign
rs254086946612:56,563,661T/A—uncertain significance
rs76893801112:56,563,668C/G—uncertain significance
rs76202861712:56,563,677C/T—uncertain significance
rs37043344212:56,563,688C/T—uncertain significance
rs76366190312:56,563,969G/A—uncertain significance
rs254087226112:56,563,971G/A—uncertain significance
rs11197593112:56,563,987T/A—benign
rs254087890012:56,565,062C/G—uncertain significance
rs77789635712:56,565,066G/A—uncertain significance
rs18733519412:56,565,075G/A—likely benign
rs129405445812:56,565,126T/C—uncertain significance
rs187391840812:56,565,147T/G—uncertain significance
rs254087944412:56,565,169C/A—uncertain significance
rs1153938312:56,565,196C/T—uncertain significance
rs132830293012:56,565,198T/C—uncertain significance
rs1232026512:56,565,340T/C—benign
rs731100812:56,565,392G/T—benign
rs254088169212:56,565,465A/G—uncertain significance
rs254088223112:56,565,561G/C—uncertain significance
rs254088265612:56,565,626G/T—likely benign
rs254088272212:56,565,642T/G—uncertain significance
rs187401614612:56,565,676C/A—likely pathogenic
rs213568466812:56,565,689T/G—uncertain significance
rs254088300812:56,565,702T/C—uncertain significance
rs156590335312:56,566,210A/G—pathogenic
rs155522127512:56,566,211C/T—pathogenic
rs254088670212:56,566,212C/T—uncertain significance
rs156590336712:56,566,216A/G—pathogenic
rs213568786612:56,566,219A/G—pathogenic
rs213568809812:56,566,249C/T—uncertain significance
rs75963545212:56,566,393G/T—uncertain significance
rs146876922812:56,566,425T/C—uncertain significance
rs102532969612:56,566,490T/C—uncertain significance
rs213569541412:56,567,471T/A—likely benign
rs76486562512:56,567,504C/T—likely benign

Showing 100 of 197 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.