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Gene Symbol SMARCE1
Synonyms BAF57 | CSS5
Gene Description SMARCE1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1, encodes a core subunit of the SWI/SNF chromatin remodeling complex that is involved in cell cycle regulation and proliferation (PMID: 20460533), cellular senescence (PMID: 28716547), and induction of apoptosis (PMID: 16135788). Overexpression has been identified in breast cancer (PMID: 27495308) and prostate cancer metastases (PMID: 23493350), and SMARCE1 mutations have been identified in spinal meningiomas (PMID: 23377182).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
6605 17 17q21.2 NM_003079 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A145fs frameshift unknown SMARCE1 A145fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 145 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). A145fs has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
A311fs frameshift unknown SMARCE1 A311fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 311 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). A311fs has not been characterized in the scientific literature and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
D106fs frameshift unknown SMARCE1 D106fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 106 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). D106fs has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
E111fs frameshift unknown SMARCE1 E111fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 111 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). E111fs has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
E118* nonsense unknown SMARCE1 E118* results in a premature truncation of the Smarce1 protein at amino acid 118 of 411 (UniProt.org). E118* has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
E242fs frameshift unknown SMARCE1 E242fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 242 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). E242fs has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
I206fs frameshift unknown SMARCE1 I206fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 206 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). I206fs has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
K271fs frameshift unknown SMARCE1 K271fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 271 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). K271fs has been identified in sequencing studies (PMID: 33319313, PMID: 32994724), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
K305fs frameshift unknown SMARCE1 K305fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 305 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). K305fs has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
L93fs frameshift unknown SMARCE1 L93fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 93 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). L93fs has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
mutant unknown unknown SMARCE1 mutant indicates an unspecified mutation in the SMARCE1 gene.
P175fs frameshift unknown SMARCE1 P175fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 175 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). P175fs has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
P5fs frameshift loss of function - predicted SMARCE1 P5fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 5 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), P5fs is predicted to lead to a loss of Smarce1 protein function.
Q113fs frameshift unknown SMARCE1 Q113fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 113 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). Q113fs has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
Q159K missense unknown SMARCE1 Q159K does not lie within any known functional domains of the Smarce1 protein (UniProt.org). Q159K has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
Q225* nonsense unknown SMARCE1 Q225* results in a premature truncation of the Smarce1 protein at amino acid 225 of 411 (UniProt.org). Q225* has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
Q230* nonsense unknown SMARCE1 Q230* results in a premature truncation of the Smarce1 protein at amino acid 230 of 411 (UniProt.org). Q230* has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
Q232* nonsense unknown SMARCE1 Q232* results in a premature truncation of the Smarce1 protein at amino acid 232 of 411 (UniProt.org). Q232* has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
R158* nonsense unknown SMARCE1 R158* results in a premature truncation of the Smarce1 protein at amino acid 158 of 411 (UniProt.org). R158* has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
R239* nonsense unknown SMARCE1 R239* results in a premature truncation of the Smarce1 protein at amino acid 239 of 411 (UniProt.org). R239* has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
R251* nonsense unknown SMARCE1 R251* results in a premature truncation of the Smarce1 protein at amino acid 251 of 411 (UniProt.org). R251* has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
S208fs frameshift unknown SMARCE1 S208fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 208 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). S208fs has been identified in sequencing studies (PMID: 27050099), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
S217fs frameshift unknown SMARCE1 S217fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 217 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). S217fs has not been characterized in the scientific literature and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
V212fs frameshift unknown SMARCE1 V212fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 212 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). V212fs has not been characterized in the scientific literature and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
W104* nonsense unknown SMARCE1 W104* results in a premature truncation of the Smarce1 protein at amino acid 104 of 411 (UniProt.org). W104* has not been characterized in the scientific literature and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
Y119* nonsense unknown SMARCE1 Y119* results in a premature truncation of the Smarce1 protein at amino acid 119 of 411 (UniProt.org). Y119* has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
Y119fs frameshift unknown SMARCE1 Y119fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 119 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). Y119fs has not been characterized in the scientific literature and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).