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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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
6598 22 22q11 NM_003073 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A312T missense unknown SMARCB1 A312T lies within repeat 2 and the PPP1R15A-interacting region of the Smarcb1 protein (UniProt.org). A312T has been identified in sequencing studies (PMID: 28263318, PMID: 25855536, PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
A339V missense unknown SMARCB1 A339V does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). A339V has not been characterized in the scientific literature and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
amp none no effect SMARCB1 amplification indicates an increased number of copies of the SMARCB1 gene. However, the mechanism causing the increase is unspecified.
D104N missense unknown SMARCB1 D104N lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). D104N has been identified in sequencing studies (PMID: 30057548, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
D159N missense unknown SMARCB1 D159N does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). D159N has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
D169H missense unknown SMARCB1 D169H does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). D169H has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
D202E missense unknown SMARCB1 D202E lies within repeat 1 and the HIV-1 integrase and MYC-binding regions of the Smarcb1 protein (UniProt.org). D202E has not been characterized in the scientific literature and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
D22G missense unknown SMARCB1 D22G lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). D22G has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
D259N missense unknown SMARCB1 D259N lies within repeat 2 of the Smarcb1 protein (UniProt.org). D259N has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
del deletion loss of function SMARCB1 del indicates a deletion of the SMARCB1 gene, which leads to decreased levels of SWI/SNF subunits, decreased subunit incorporation into chromatin complexes (PMID: 27941797), and hyperactivation of EGFR and MET pathway signaling in cell culture (PMID: 23576573). SMARCB1 deletion has been frequently identified in epitheloid sarcoma (PMID: 23060122).
E184D missense unknown SMARCB1 E184D lies within the HIV-1 integrase-binding region of the Smarcb1 protein (UniProt.org). E184D has not been characterized in the scientific literature and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
E216K missense unknown SMARCB1 E216K lies within repeat 1 and the HIV-1 integrase and MYC-binding regions of the Smarcb1 protein (UniProt.org). E216K has not been characterized in the scientific literature and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
E31K missense unknown SMARCB1 E31K lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). E31K has been identified in sequencing studies (PMID: 33845210, PMID: 37649695, PMID: 38527786), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
E31V missense unknown SMARCB1 E31V lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). E31V has been reported to alter a donor splice site and disrupt Smarcb1 mRNA expression in a patient sample (PMID: 19582488), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown.
F279C missense unknown SMARCB1 F279C lies within repeat 2 of the Smarcb1 protein (UniProt.org). F279C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
F307V missense unknown SMARCB1 F307V lies within repeat 2 and PPP1R15A-interacting region of the Smarcb1 protein (UniProt.org). F307V has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
G80R missense unknown SMARCB1 G80R lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). G80R has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
H79Q missense unknown SMARCB1 H79Q lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). H79Q has not been characterized in the scientific literature and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
inact mut unknown loss of function SMARCB1 inact mut indicates that this variant results in a loss of function of the Smarcb1 protein. However, the specific amino acid change has not been identified.
K126N missense unknown SMARCB1 K126N does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). K126N has been identified in the scientific literature (PMID: 33625734), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
K363N missense unknown SMARCB1 K363N does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). K363N demonstrates loss of binding to histone H3 and H2B in a Smarcb1 construct of the C-terminal domain compared to wild-type Smarcb1 in in vitro assays (PMID: 31759698), but has not been fully biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
K364del deletion unknown SMARCB1 K364del results in the deletion of an amino acid of the Smarcb1 protein at amino acid 364 (UniProt.org). K364del results in decreased histone remodeling activity in cultured cells (PMID: 34437148), but has not been fully biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown.
K8N missense unknown SMARCB1 K8N lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). K8N has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
L142I missense unknown SMARCB1 L142I does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). L142I has been identified in sequencing studies (PMID: 26111976), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
L166Pfs*4 frameshift loss of function - predicted SMARCB1 L166Pfs*4 indicates a shift in the reading frame starting at amino acid 166 and terminating 4 residues downstream causing a premature truncation of the 385 amino acid Smarcb1 protein (UniProt.org). Due to the loss of the MYC-binding and tandem repeat regions (UniProt.org), L166Pfs*4 is predicted to lead to a loss of Smarcb1 protein function.
L266A missense unknown SMARCB1 L266A lies within repeat 2 of the Smarcb1 protein (UniProt.org). L266A disrupts the interaction of Smarcb1 with Crm1 in cultured cells (PMID: 11782423), but results in senescence induction and subcellular localization similar to wild-type Smarcb1 in cultured cells (PMID: 34003336), and therefore, its effect on Smarcb1 protein function is unknown.
loss unknown loss of function SMARCB1 loss indicates loss of the SMARCB1 gene, mRNA, and protein.
mutant unknown unknown SMARCB1 mutant indicates an unspecified mutation in the SMARCB1 gene.
N207S missense unknown SMARCB1 N207S lies within repeat 1 and the HIV-1 integrase and MYC-binding regions of the Smarcb1 protein (UniProt.org). N207S has not been characterized in the scientific literature and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
negative unknown loss of function SMARCB1 negative indicates a lack of the SMARCB1 gene, mRNA, and/or protein.
P133T missense unknown SMARCB1 P133T does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). P133T has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
P188L missense unknown SMARCB1 P188L lies within repeat 1 and the HIV-1 integrase and MYC-binding regions of the Smarcb1 protein (UniProt.org). P188L has been identified in sequencing studies (PMID: 25769001, PMID: 27713405, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
P230Q missense unknown SMARCB1 P230Q lies within repeat 1 and the HIV-1 integrase and MYC-binding regions of the Smarcb1 protein (UniProt.org). P230Q has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
P351S missense unknown SMARCB1 P351S does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). P351S has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
positive unknown unknown SMARCB1 positive indicates the presence of the SMARCB1 gene, mRNA, and/or protein.
Q18* nonsense loss of function - predicted SMARCB1 Q18* results in a premature truncation of the Smarcb1 protein at amino acid 18 of 385 (UniProt.org). Due to the loss of the MYC-binding and tandem repeat regions (UniProt.org), Q18* is predicted to lead to a loss of Smarcb1 protein function.
Q243* nonsense unknown SMARCB1 Q243* results in a premature truncation of the Smarcb1 protein at amino acid 243 of 385 (UniProt.org). Q243* has been identified in the scientific literature (PMID: 9892189, PMID: 22895193, PMID: 26343384), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
Q318* nonsense loss of function SMARCB1 Q318* results in a premature truncation of the Smarcb1 protein at amino acid 318 of 385 (UniProt.org). Q318* confers a loss of function to Smarcb1 as demonstrated by cytoplasmic localization and failure to induce senescence in culture (PMID: 34003336).
Q368* nonsense unknown SMARCB1 Q368* results in a premature truncation of the Smarcb1 protein at amino acid 368 of 385 (UniProt.org). Q368* has been identified in sequencing studies (PMID: 30215037, PMID: 26437031, PMID: 33949667), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
Q368R missense unknown SMARCB1 Q368R does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). Q368R has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
R155H missense unknown SMARCB1 R155H does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). R155H has been identified in sequencing studies (PMID: 36931573), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
R190L missense unknown SMARCB1 R190L lies within repeat 1 and the HIV-1 integrase and MYC-binding regions of the Smarcb1 protein (UniProt.org). R190L has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
R201Q missense unknown SMARCB1 R201Q lies within repeat 1 and the HIV-1 integrase and MYC-binding regions of the Smarcb1 protein (UniProt.org). R201Q has been identified in the scientific literature (PMID: 29971034, PMID: 27284491, PMID: 30462564), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
R261C missense unknown SMARCB1 R261C lies within repeat 2 of the Smarcb1 protein (UniProt.org). R261C has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
R370S missense unknown SMARCB1 R370S does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). R370S has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
R374Q missense unknown SMARCB1 R374Q does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). R374Q has been identified in the scientific literature (PMID: 26285240, PMID: 23334667, PMID: 25981829), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
R374W missense unknown SMARCB1 R374W does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). R374W has been identified in sequencing studies (PMID: 28733441, PMID: 22895193, PMID: 33556149), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
R377C missense loss of function - predicted SMARCB1 R377C does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). R377C results in decreased interactions in an interactome analysis and increased proliferation in culture (PMID: 30108113), and therefore, is predicted to lead to a loss Smarcb1 protein function.
R377H missense unknown SMARCB1 R377H does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). R377H has been identified in the scientific literature (PMID: 31470906, PMID: 35568945, PMID: 35774130), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
R377L missense unknown SMARCB1 R377L does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). R377L has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
R53* nonsense loss of function - predicted SMARCB1 R53* results in a premature truncation of the Smarcb1 protein at amino acid 53 of 385 (UniProt.org). Due to the loss of the MYC-binding and tandem repeat regions (UniProt.org), R53* is predicted to lead to a loss of Smarcb1 protein function.
R53Q missense unknown SMARCB1 R53Q lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). R53Q has been identified in the scientific literature (PMID: 28692054, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Apr 2024).
S247C missense unknown SMARCB1 S247C lies within the tandem repeat region of the Smarcb1 protein (UniProt.org). S247C has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Apr 2024).
S252I missense unknown SMARCB1 S252I lies within the tandem repeat region of the Smarcb1 protein (UniProt.org). S252I has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Apr 2024).
S274F missense unknown SMARCB1 S274F lies within repeat 2 of the Smarcb1 protein (UniProt.org). S274F has been identified in sequencing studies (PMID: 29990500, PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Apr 2024).
S320* nonsense loss of function SMARCB1 S320* results in a premature truncation of the Smarcb1 protein at amino acid 320 of 385 (UniProt.org). S320* confers a loss of function to Smarcb1 as demonstrated by cytoplasmic localization and failure to induce cell cycle arrest as indicated by decreased flat cell formation in culture (PMID: 11782423).
S94L missense unknown SMARCB1 S94L lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). S94L has not been characterized in the scientific literature and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
T118Pfs*25 frameshift loss of function - predicted SMARCB1 T118Pfs*25 indicates a shift in the reading frame starting at amino acid 118 and terminating 25 residues downstream causing a premature truncation of the 385 amino acid Smarcb1 protein (UniProt.org). Due to the loss of the MYC-binding and tandem repeat regions (UniProt.org), T118Pfs*25 is predicted to lead to a loss of Smarcb1 protein function.
T149K missense unknown SMARCB1 T149K does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). T149K has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Apr 2024).
T232M missense unknown SMARCB1 T232M lies within repeat 1 and the HIV-1 integrase and MYC-binding regions of the Smarcb1 protein (UniProt.org). T232M has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
T381M missense unknown SMARCB1 T381M does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). T381M has been identified in sequencing studies (PMID: 29617669), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
T72Nfs*4 frameshift loss of function - predicted SMARCB1 T72Nfs*4 indicates a shift in the reading frame starting at amino acid 72 and terminating 4 residues downstream causing a premature truncation of the 385 amino acid Smarcb1 protein (UniProt.org). Due to the loss of the MYC-binding and tandem repeat regions (UniProt.org), T72Nfs*4 is predicted to lead to a loss of Smarcb1 protein function.
T72Qfs*13 frameshift loss of function - predicted SMARCB1 T72Qfs*13 indicates a shift in the reading frame starting at amino acid 72 and terminating 13 residues downstream causing a premature truncation of the 385 amino acid Smarcb1 protein (UniProt.org). Due to the loss of the MYC-binding and tandem repeat regions (UniProt.org), T72Qfs*13 is predicted to lead to a loss of Smarcb1 protein function.
V262I missense unknown SMARCB1 V262I lies within repeat 2 of the Smarcb1 protein (UniProt.org). V262I has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Apr 2024).
wild-type none no effect Wild-type SMARCB1 indicates that no mutation has been detected within the SMARCB1 gene.
Y326* nonsense unknown SMARCB1 Y326* results in a premature truncation of the Smarcb1 protein at amino acid 326 of 385 (UniProt.org). Y326* has been identified in the scientific literature (PMID: 17152049, PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
Y47S missense unknown SMARCB1 Y47S lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). Y47S has been identified in sequencing studies (PMID: 25759019), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Apr 2024).