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Gene Symbol SMARCB1
Synonyms BAF47 | CSS3 | hSNFS | INI-1 | INI1 | MRD15 | PPP1R144 | RDT | RTPS1 | Sfh1p | SNF5 | SNF5L1 | Snr1 | SWNTS1
Gene Description SMARCB1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, is a member of the SWI/SNF chromatin remodeling complex and regulates transcription of several genes involved in cell proliferation (PMID: 23095836, PMID: 28109176). Smarcb1 inactivation through loss is characteristic of atypical teratoid/rhabdoid tumors (PMID: 23095836), schwannomas (PMID: 28368924, PMID: 28824165), sinonasal carcinomas (PMID: 29797680), and colon carcinoma (PMID: 32083567).

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Molecular Profile Protein Effect Treatment Approaches
SMARCB1 A312T unknown
SMARCB1 A339V unknown
SMARCB1 amp no effect
SMARCB1 D104N unknown
SMARCB1 D159N unknown
SMARCB1 D169H unknown
SMARCB1 D202E unknown
SMARCB1 D22G unknown
SMARCB1 D259N unknown
SMARCB1 del loss of function CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34
SMARCB1 E184D unknown
SMARCB1 E216K unknown
SMARCB1 E31K unknown
SMARCB1 E31V unknown CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34
SMARCB1 F279C unknown
SMARCB1 F307V unknown
SMARCB1 G80R unknown
SMARCB1 H79Q unknown
SMARCB1 inact mut loss of function
SMARCB1 K126N unknown
SMARCB1 K363N unknown
SMARCB1 K364del unknown
SMARCB1 K8N unknown
SMARCB1 L142I unknown
SMARCB1 L166Pfs*4 loss of function - predicted CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor
SMARCB1 L266A unknown
SMARCB1 loss loss of function CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34
SMARCB1 loss TP53 wild-type
RB1 del SMARCB1 loss
RB1 I124Rfs*6 RB1 del SMARCB1 loss
SMARCB1 mutant unknown
SMARCB1 mut TP53 wild-type
SMARCB1 N207S unknown
SMARCB1 negative loss of function
CDKN2A over exp SMARCB1 neg
SMARCB1 P133T unknown
SMARCB1 P188L unknown
SMARCB1 P230Q unknown
SMARCB1 P351S unknown
SMARCB1 positive unknown
SMARCB1 Q18* loss of function - predicted CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34
SMARCB1 Q243* unknown
SMARCB1 Q318* loss of function
SMARCB1 Q368* unknown
SMARCB1 Q368R unknown
SMARCB1 R155H unknown
SMARCB1 R190L unknown
SMARCB1 R201Q unknown
SMARCB1 R261C unknown
SMARCB1 R370S unknown
SMARCB1 R374Q unknown
SMARCB1 R374W unknown
SMARCB1 R377C loss of function - predicted
SMARCB1 R377H unknown
SMARCB1 R377L unknown
SMARCB1 R53* loss of function - predicted CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34
SMARCB1 R53Q unknown
SMARCB1 S247C unknown
SMARCB1 S252I unknown
SMARCB1 S274F unknown
SMARCB1 S320* loss of function
SMARCB1 S94L unknown
SMARCB1 T118Pfs*25 loss of function - predicted CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34
SMARCB1 T149K unknown
SMARCB1 T232M unknown
SMARCB1 T381M unknown
SMARCB1 T72Nfs*4 loss of function - predicted CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34
SMARCB1 T72Qfs*13 loss of function - predicted CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34
SMARCB1 V262I unknown
SMARCB1 wild-type no effect
SMARCB1 Y326* unknown
SMARCB1 Y47S unknown