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Gene Symbol SMARCA4
Synonyms BAF190 | BAF190A | BRG1 | CSS4 | hSNF2b | MRD16 | RTPS2 | SNF2 | SNF2-beta | SNF2L4 | SNF2LB | SWI2
Gene Description SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4, is a member of the SWI/SNF family, which regulates transcription through chromatin remodeling (PMID: 27413115). Mutations in Smarca4 have been linked to rhabdoid tumors as well as breast, prostate, lung, pancreas, and colon cancers (PMID: 18437052, PMID: 24145903, PMID: 19234488).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1002V missense unknown SMARCA4 A1002V does not lie within any known functional domains of the Smarca4 protein (UniProt.org). A1002V has been identified in sequencing studies (PMID: 30578357), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
A1168P missense unknown SMARCA4 A1168P lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). A1168P has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
A1186G missense unknown SMARCA4 A1186G lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). A1186G has not been characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
A1186T missense loss of function - predicted SMARCA4 A1186T lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). A1186T results in cell growth and an ability to rescue cell growth of SMARCA2-deficient cells similar to wild-type Smarca4, but leads to decreased nucleosomal remodeling activity in an in vitro assay, reduced chromatin accessibility, and decreased ability to activate target genes in culture (PMID: 33144586), and therefore, is predicted to lead to a loss of Smarca4 protein function.
A1186V missense unknown SMARCA4 A1186V lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). A1186V has been identified in sequencing studies (PMID: 28422758, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
A1468V missense unknown SMARCA4 A1468V does not lie within any known functional domains of the Smarca4 protein (UniProt.org). A1468V has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
A1536T missense unknown SMARCA4 A1536T lies within the Bromo domain of the Smarca4 protein (UniProt.org). A1536T has been identified in sequencing studies (PMID: 22810696, PMID: 27149842, PMID: 30269082), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
A406T missense unknown SMARCA4 A406T does not lie within any known functional domains of the Smarca4 protein (UniProt.org). A406T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
A532fs frameshift loss of function - predicted SMARCA4 A532fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 532 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), A532fs is predicted to lead to a loss of Smarca4 protein function.
A636fs frameshift loss of function - predicted SMARCA4 A636fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 636 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the helicase domains (UniProt.org), A636fs is predicted to lead to a loss of Smarca4 protein function.
A778P missense unknown SMARCA4 A778P lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). A778P has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
A923P missense unknown SMARCA4 A923P lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). A923P has been identified in sequencing studies (PMID: 33144586), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
amp none no effect SMARCA4 amplification indicates an increased number of copies of the SMARCA4 gene. However, the mechanism causing the increase is unspecified.
D1020Y missense unknown SMARCA4 D1020Y does not lie within any known functional domains of the Smarca4 protein (UniProt.org). D1020Y has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
D1127G missense unknown SMARCA4 D1127G lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). D1127G has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
D1175G missense unknown SMARCA4 D1175G lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). D1175G has been identified in sequencing studies (PMID: 33144586), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
D1183H missense unknown SMARCA4 D1183H lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). D1183H has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
D1235Y missense unknown SMARCA4 D1235Y lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). D1235Y has been identified in sequencing studies (PMID: 23033341, PMID: 24747642, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
D1418N missense unknown SMARCA4 D1418N does not lie within any known functional domains of the Smarca4 protein (UniProt.org). D1418N has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
D779G missense unknown SMARCA4 D779G lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). D779G has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
D881G missense unknown SMARCA4 D881G lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). D881G has been identified in the scientific literature (PMID: 29323272, PMID: 30617194), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Apr 2021).
E1211K missense unknown SMARCA4 E1211K lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). E1211K has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
E1212D missense unknown SMARCA4 E1212D lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). E1212D has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
E1300_N1303del deletion unknown SMARCA4 E1300_N1303del results in the deletion of four amino acids of the Smarca4 protein from amino acids 1300 to 1303 (UniProt.org). E1300_N1303del has been identified in sequencing studies (PMID: 26975901, PMID: 24658004), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
E1310V missense unknown SMARCA4 E1310V lies within a region of the Smarca4 protein that is sufficient for interacting with DLX1 (UniProt.org). E1310V has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
E1342* nonsense loss of function - predicted SMARCA4 E1342* results in a premature truncation of the Smarca4 protein at amino acid 1342 of 1647 (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), E1342* is predicted to lead to a loss of Smarca4 protein function.
E1364K missense unknown SMARCA4 E1364K lies within a region of the Smarca4 protein that is sufficient for interacting with DLX1 (UniProt.org). E1364K has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
E1393K missense unknown SMARCA4 E1393K lies within a region of the Smarca4 protein that is sufficient for interacting with DLX1 (UniProt.org). E1393K has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
E1401K missense unknown SMARCA4 E1401K lies within a region of the Smarca4 protein that is sufficient for interacting with DLX1 (UniProt.org). E1401K has been identified in sequencing studies (PMID: 31660073), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
E371K missense unknown SMARCA4 E371K does not lie within any known functional domains of the Smarca4 protein (UniProt.org). E371K has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
E665D missense unknown SMARCA4 E665D lies within the RNA-binding region of the Smarca4 protein that is sufficient for binding to lncRNA Evf2 (UniProt.org). E665D has not been characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Apr 2021).
E667fs frameshift loss of function - predicted SMARCA4 E667fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 667 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E667fs is predicted to lead to a loss of Smarca4 protein function.
E780K missense unknown SMARCA4 E780K lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). E780K has been identified in sequencing studies (PMID: 29316426, PMID: 25526346, PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
E821K missense loss of function SMARCA4 E821K lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). E821K results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling in an vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and impaired ability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586).
E821Sfs*10 frameshift loss of function - predicted SMARCA4 E821Sfs*10 indicates a shift in the reading frame starting at amino acid 821 and terminating 10 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), E821Sfs*10 is predicted to lead to a loss of Smarca4 protein function.
E861K missense unknown SMARCA4 E861K lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). E861K results in increased FRAP recovery time (PMID: 29323272), increased PRC1 occupancy at CpG-rich gene promoters, and increased H3K27me3 levels near Ring1b binding sites (PMID: 27941795), but has not been fully biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
E882D missense unknown SMARCA4 E882D lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). E882D causes loss of enhancer accessibility as compared to wild-type protein (PMID: 29323272), but has not been fully biochemically characterized and therefore, its effect on Smarca4 protein function is unknown.
E882K missense loss of function - predicted SMARCA4 E882K lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). E882K results in increased PRC1 occupancy at CpG-rich promoters (PMID: 27941795), but demonstrates decreased FRAP recovery time in an in vitro assay (PMID: 29323272) and cell growth similar to wild-type Smarca4 in culture, decreased nucleosomal remodeling in an vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and impaired ability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586), and therefore, is predicted to lead to a loss of Smarca4 protein function.
E920K missense unknown SMARCA4 E920K lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). E920K has been identified in sequencing studies (PMID: 26286987), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
E952fs frameshift loss of function - predicted SMARCA4 E952fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 952 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), E952fs is predicted to lead to a loss of Smarca4 protein function.
F1082Lfs*24 frameshift loss of function - predicted SMARCA4 F1082Lfs*24 indicates a shift in the reading frame starting at amino acid 1082 and terminating 24 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), F1082Lfs*24 is predicted to lead to a loss of Smarca4 protein function.
F1102L missense unknown SMARCA4 F1102L lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). F1102L has been identified in sequencing studies (PMID: 29615459, PMID: 24816253, PMID: 22722829), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
F1142L missense unknown SMARCA4 F1142L lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). F1142L has been identified in sequencing studies (PMID: 29656895), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
F1142V missense unknown SMARCA4 F1142V lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). F1142V has been identified in sequencing studies (PMID: 22138691), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
F1234L missense unknown SMARCA4 F1234L lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). F1234L has been identified in sequencing studies (PMID: 21798893), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
F1539L missense unknown SMARCA4 F1539L lies within the Bromo domain of the Smarca4 protein (UniProt.org). F1539L has been identified in sequencing studies (PMID: 23088494, PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
F412fs frameshift loss of function - predicted SMARCA4 F412fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 412 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), F412fs is predicted to lead to a loss of Smarca4 protein function.
F947Lfs*3 frameshift loss of function - predicted SMARCA4 F947Lfs*3 indicates a shift in the reading frame starting at amino acid 947 and terminating 3 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), F947Lfs*3 is predicted to lead to a loss of Smarca4 protein function.
G102Pfs*26 frameshift loss of function - predicted SMARCA4 G102Pfs*26 indicates a shift in the reading frame starting at amino acid 102 and terminating 26 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G102Pfs*26 is predicted to lead to a loss of Smarca4 protein function.
G1068V missense unknown SMARCA4 G1068V does not lie within any known functional domains of the Smarca4 protein (UniProt.org). G1068V has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
G1159fs frameshift loss of function - predicted SMARCA4 G1159fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 1159 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the C-terminal helicase domain and loss of the Bromo domain (UniProt.org), G1159fs is predicted to result in a loss of Smarca4 protein function.
G1159V missense loss of function SMARCA4 G1159V lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). G1159V results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling activity in an in vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and partial inability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586).
G1159W missense unknown SMARCA4 G1159W lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). G1159W has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
G1160E missense unknown SMARCA4 G1160E lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). G1160E has been identified in sequencing studies (PMID: 29610475), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
G1162C missense loss of function SMARCA4 G1162C lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). G1162C results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling activity in an in vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and impaired ability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586).
G1194R missense unknown SMARCA4 G1194R lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). G1194R has been identified in sequencing studies (PMID: 31558468, PMID: 28671688), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
G1194W missense unknown SMARCA4 G1194W lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). G1194W has been identified in sequencing studies (PMID: 24504440), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
G1232C missense unknown SMARCA4 G1232C lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). G1232C has been identified in sequencing studies (PMID: 22722829), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
G1232D missense loss of function SMARCA4 G1232D lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). G1232D confers a loss of function to the Smarca4 protein as demonstrated by reduced enzyme activity (PMID: 23698369).
G1232S missense loss of function SMARCA4 G1232S lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). G1232S results in cell growth similar to wild-type Smarca4, but leads to decreased nucleosomal remodeling activity in an in vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and impaired ability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586).
G151S missense unknown SMARCA4 G151S lies within the region of the Smarca4 protein necessary for interaction with SS18L1/CREST (UniProt.org). G151S has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
G156fs frameshift loss of function - predicted SMARCA4 G156fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 156 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G156fs is predicted to lead to a loss of Smarca4 protein function.
G271fs frameshift loss of function - predicted SMARCA4 G271fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 271 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G271fs is predicted to lead to a loss of Smarca4 protein function.
G630D missense unknown SMARCA4 G630D lies within the RNA-binding region of the Smarca4 protein that is sufficient for binding to lncRNA Evf2 (UniProt.org). G630D has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
G782D missense unknown SMARCA4 G782D lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). G782D has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
G782S missense unknown SMARCA4 G782S lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). G782S causes loss of enhancer accessibility as compared to wild-type protein (PMID: 29323272), but has not been fully biochemically characterized and therefore, its effect on Smarca4 protein function is unknown.
G784E missense unknown SMARCA4 G784E lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). G784E results in decreased FRAP recovery time (PMID: 29323272) and increased PRC1 occupancy at CpG-rich gene promoters (PMID: 27941795), but has not been fully biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
G911S missense unknown SMARCA4 G911S lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). G911S has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
H1191R missense unknown SMARCA4 H1191R lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). H1191R has been identified in sequencing studies (PMID: 22820256), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
H736R missense unknown SMARCA4 H736R does not lie within any known functional domains of the Smarca4 protein (UniProt.org). H736R has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
H884N missense unknown SMARCA4 H884N lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). H884N results in decrease FRAP recovery time in cell culture (PMID: 29323272), but has not been fully biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
H884R missense unknown SMARCA4 H884R lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). H884R has been identified in sequencing studies (PMID: 29636988), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
I542fs frameshift loss of function - predicted SMARCA4 I542fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 542 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), I542fs is predicted to lead to a loss of Smarca4 protein function.
I542Mfs*71 frameshift loss of function - predicted SMARCA4 I542Mfs*71 indicates a shift in the reading frame starting at amino acid 542 and terminating 71 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), I542Mfs*71 is predicted to lead to a loss of Smarca4 protein function.
I996S missense unknown SMARCA4 I996S does not lie within any known functional domains of the Smarca4 protein (UniProt.org). I996S has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
inact mut unknown loss of function SMARCA4 inact mut indicates that this variant results in a loss of function of the Smarca4 protein. However, the specific amino acid change has not been identified.
K1439Q missense unknown SMARCA4 K1439Q lies within a region of the Smarca4 protein sufficient for interaction with DLX1 (UniProt.org). K1439Q has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
K572* nonsense loss of function - predicted SMARCA4 K572* results in a premature truncation of the Smarca4 protein at amino acid 572 of 1647 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K572* is predicted to lead to a loss of Smarca4 protein function.
K584Rfs*29 frameshift loss of function - predicted SMARCA4 K584Rfs*29 indicates a shift in the reading frame starting at amino acid 584 and terminating 29 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K584Rfs*29 is predicted to lead to a loss of Smarca4 protein function.
K586fs frameshift loss of function - predicted SMARCA4 K586fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 586 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K586fs is predicted to lead to a loss of Smarca4 protein function.
K711Sfs*63 frameshift loss of function - predicted SMARCA4 K711Sfs*63 indicates a shift in the reading frame starting at amino acid 711 and terminating 63 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K711Sfs*63 is predicted to lead to a loss of Smarca4 protein function.
K785R missense loss of function SMARCA4 K785R lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). K785R is characterized as an enzyme dead mutation and thus, confers a loss of function to the Smarca4 protein resulting in an inability to bind ATP (PMID: 11003650).
K991E missense unknown SMARCA4 K991E does not lie within any known functional domains of the Smarca4 protein (UniProt.org). K991E has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
L1042P missense unknown SMARCA4 L1042P does not lie within any known functional domains of the Smarca4 protein (UniProt.org). L1042P has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
L1163P missense unknown SMARCA4 L1163P lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). L1163P has been identified in sequencing studies (PMID: 24755471, PMID: 11085541), but has not been biochemically characterized and therefore, its effect on Smarca4 protein is unknown (PubMed, Jun 2021).
L1163V missense unknown SMARCA L1163V lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). L1163V has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
L180F missense unknown SMARCA4 L180F lies within the QLQ domain of the Smarca4 protein (UniProt.org). L180F has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
L456P missense unknown SMARCA4 L456P does not lie within any known functional domains of the Smarca4 protein (UniProt.org). L456P has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
L754F missense loss of function SMARCA4 L754F lies within the Q motif of the Smarca4 protein (PMID: 30647132). L754F demonstrates ATP binding and basal ATPase activity comparable to wildtype protein, but results in defective nucleosome-dependent activation of ATPase activity, impaired chromatin-remodeling activity, and failure to regulate cell cycle in culture (PMID: 30647132).
L762fs frameshift loss of function - predicted SMARCA4 L762fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 762 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), L762fs is predicted to lead to a loss of Smarca4 protein function.
L765R missense unknown SMARCA4 L765R does not lie within any known functional domains of the Smarca4 protein (UniProt.org). L765R has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
L792P missense unknown SMARCA4 L792P lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). L792P has been identified in the scientific literature (PMID: 26975901), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Apr 2021).
L815P missense unknown SMARCA4 L815P lies within the ATP binding helicase domain of the Smarca4 protein (UniProt.org). L815P causes loss of enhancer accessibility as compared to wild-type protein (PMID: 29323272), but has not been fully biochemically characterized and therefore, its effect on Smarca4 protein function is unknown.
L972P missense unknown SMARCA4 L972P does not lie within any known functional domains of the Smarca4 protein (UniProt.org). L972P has been identified in sequencing studies (PMID: 24658002), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Apr 2021).
loss unknown loss of function SMARCA4 loss indicates loss of the SMARCA4 gene, mRNA, and protein.
M1105I missense unknown SMARCA4 M1105I lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). M1105I has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
M145I missense unknown SMARCA4 M145I lies within the SS18L1/CREST-interacting region of the Smarca4 protein (UniProt.org). M145I has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
M145L missense unknown SMARCA4 M145L lies within the SS18L1/CREST-interacting region of the Smarca4 protein (UniProt.org). M145L has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
M272fs frameshift loss of function - predicted SMARCA4 M272fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 272 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), M272fs is predicted to lead to a loss of Smarca4 protein function.
M749Nfs*75 frameshift loss of function - predicted SMARCA4 M749Nfs*75 indicates a shift in the reading frame starting at amino acid 749 and terminating 75 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), M749Nfs*75 is predicted to lead to a loss of Smarca4 protein function.
M781I missense unknown SMARCA4 M781I lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). M781I has been identified in sequencing studies (PMID: 28052061), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
mutant unknown unknown SMARCA4 mutant indicates an unspecified mutation in the SMARCA4 gene.
N1164Y missense unknown SMARCA4 N1164Y lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). N1164Y has been identified in sequencing studies (PMID: 33144586), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
N563Gfs*82 frameshift loss of function - predicted SMARCA4 N563Gfs*82 indicates a shift in the reading frame starting at amino acid 563 and terminating 82 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), N563Gfs*82 is predicted to lead to a loss of Smarca4 protein function.
N774K missense unknown SMARCA4 N774K lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). N774K has been identified in sequencing studies (PMID: 33144586), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
N774Kfs*57 frameshift loss of function - predicted SMARCA4 N774Kfs*57 indicates a shift in the reading frame starting at amino acid 774 and terminating 57 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), N774Kfs*57 is predicted to lead to a loss of Smarca4 protein function.
N817K missense unknown SMARCA4 N817K lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). N817K has been identified in sequencing studies (PMID: 33144586), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
N926I missense unknown SMARCA4 N926I lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). N926I has been identified in sequencing studies (PMID: 33144586), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
negative unknown loss of function SMARCA4 negative indicates a lack of the SMARCA4 gene, mRNA, and/or protein.
P109fs frameshift loss of function - predicted SMARCA4 P109fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 109 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the helicase domains (UniProt.org), P109fs is predicted to lead to a loss of Smarca4 protein function.
P1180H missense unknown SMARCA4 P1180H lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). P1180H has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
P1180Lfs*36 frameshift loss of function - predicted SMARCA4 P1180Lfs*36 indicates a shift in the reading frame starting at amino acid 1180 and terminating 36 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), P1180Lfs*36 is predicted to lead to a loss of Smarca4 protein function.
P1180S missense unknown SMARCA4 P1180S lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). P1180S has been identified in sequencing studies (PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
P1344S missense unknown SMARCA4 P1344S lies within a region of the Smarca4 protein that is sufficient for interacting with DLX1 (UniProt.org). P1344S has been identified in sequencing studies (PMID: 22842228, PMID: 24618614), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
P1504L missense unknown SMARCA4 P1504L lies within the Bromo domain of the Smarca4 protein (UniProt.org). P1504L has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
P389L missense unknown SMARCA4 P389L does not lie within any known functional domains of the Smarca4 protein (UniProt.org). P389L has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
P811R missense unknown SMARCA4 P811R lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). P811R has been identified in the scientific literature (PMID: 29323272), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
P913L missense unknown SMARCA4 P913L lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). P913L has been identified in sequencing studies (PMID: 28235761, PMID: 28671688, PMID: 28954785), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
P913Q missense unknown SMARCA4 P913Q lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). P913Q has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
P930L missense unknown SMARCA4 P930L lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). P930L has not been characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
P930S missense unknown SMARCA4 P930S lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). P930S has been identified in sequencing studies (PMID: 24816253, PMID: 25787250), but has not been biochemically characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
positive unknown unknown SMARCA4 positive indicates the presence of the SMARCA4 gene, mRNA, and/or protein.
Q1166* nonsense loss of function - predicted SMARCA4 Q1166* results in a premature truncation of the Smarca4 protein at amino acid 1166 of 1647 (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), Q1166* is predicted to lead to a loss of Smarca4 protein function.
Q1195K missense unknown SMARCA4 Q1195K lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). Q1195K has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
Q1195L missense unknown SMARCA4 Q1195L lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). Q1195L has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
Q1226* nonsense loss of function - predicted SMARCA4 Q1226* results in a premature truncation of the Smarca4 protein at amino acid 1226 of 1647 (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), Q1226* is predicted to lead to a loss of Smarca4 protein function.
Q413* nonsense loss of function - predicted SMARCA4 Q413* results in a premature truncation of the Smarca4 protein at amino acid 413 of 1647 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q413* is predicted to lead to a loss of Smarca4 protein function.
Q515* nonsense loss of function - predicted SMARCA4 Q515* results in a premature truncation of the Smarca4 protein at amino acid 515 of 1647 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q515* is predicted to lead to a loss of Smarca4 protein function.
Q555* nonsense loss of function - predicted SMARCA4 Q555* results in a premature truncation of the Smarca4 protein at amino acid 555 of 1647 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q555* is predicted to lead to a loss of Smarca4 protein function.
Q788* nonsense loss of function - predicted SMARCA4 Q788* results in a premature truncation of the Smarca4 protein at amino acid 788 of 1647 (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), Q788* is predicted to lead to a loss of Smarca4 protein function.
Q847* nonsense loss of function - predicted SMARCA4 Q847* results in a premature truncation of the Smarca4 protein at amino acid 847 of 1647 (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), Q847* is predicted to lead to a loss of Smarca4 protein function.
R1077* nonsense loss of function - predicted SMARCA4 R1077* results in a premature truncation of the Smarca4 protein at amino acid 1077 of 1647 (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), R1077* is predicted to lead to a loss of Smarca4 protein function.
R1093* nonsense loss of function - predicted SMARCA4 R1093* results in a premature truncation of the Smarca4 protein at amino acid 1093 of 1647 (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), R1093* is predicted to lead to a loss of Smarca4 protein function.
R1119H missense unknown SMARCA4 R1119H lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1119H has been identified in sequencing studies (PMID: 27499911), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R1125G missense unknown SMARCA4 R1125G lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1125G has not been characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R1125M missense unknown SMARCA4 R1125M lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1125M has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
R1125S missense unknown SMARCA4 R1125S lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1125S has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R1135Gfs*5 frameshift loss of function - predicted SMARCA4 R1135Gfs*5 indicates a shift in the reading frame starting at amino acid 1135 and terminating 5 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the disruption of the C-terminal helicase domain and loss of Bromo domain (UniProt.org), R1135Gfs*5 is predicted to lead to a loss of Smarca4 protein function.
R1135Q missense unknown SMARCA4 R1135Q lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1135Q has been identified in sequencing studies (PMID: 24145436, PMID: 28235761, PMID: 28671688), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
R1135W missense loss of function SMARCA4 R1135W lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1135W results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling in an vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and impaired ability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586)
R1157Q missense unknown SMARCA4 R1157Q lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1157Q has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R1157W missense unknown SMARCA4 R1157W lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1157W has been identified in sequencing studies (PMID: 29335443, PMID: 23791828, PMID: 28027327), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R1189* nonsense loss of function - predicted SMARCA4 R1189* results in a premature truncation of the Smarca4 protein at amino acid 1189 of 1647 (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), R1189* is predicted to lead to a loss of Smarca4 protein function.
R1189Q missense loss of function SMARCA4 R1189Q lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1189Q results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling in an vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and impaired ability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586).
R1192C missense loss of function SMARCA4 R1192C lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1192C results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling in an vitro assay, cell growth comparable to wild-type Smarca4, reduced chromatin accessibility, decreased ability to activate target genes, and impaired ability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586).
R1192H missense unknown SMARCA4 R1192H lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1192H has been identified in the scientific literature (PMID: 28594900), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R1203H missense unknown SMARCA4 R1203H lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1203H has been identified in sequencing studies (PMID: 29636988), but has not been biochemically chcaracterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R1243W missense loss of function SMARCA4 R1243W lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1243W results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling in an vitro assay, cell growth comparable to wild-type Smarca4, reduced chromatin accessibility, decreased ability to activate target genes, and impaired ability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586).
R1244P missense unknown SMARCA4 R1244P lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). R1244P has been identified in sequencing studies (PMID: 29656895), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R1323C missense unknown SMARCA4 R1323C lies within a region of the Smarca4 protein that is sufficient for interacting with DLX1 (UniProt.org). R1323C has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R1323H missense unknown SMARCA4 R1323H does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R1323H has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
R1329fs frameshift loss of function - predicted SMARCA4 R1329fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 1329 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), R1329fs is predicted to lead to a loss of Smarca4 protein function.
R1413Qfs*41 frameshift loss of function - predicted SMARCA4 R1413Qfs*41 indicates a shift in the reading frame starting at amino acid 1413 and terminating 41 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), R1413Qfs*41 is predicted to lead to a loss of Smarca4 protein function.
R1515C missense unknown SMARCA4 R1515C lies within the Bromo domain of the Smarca4 protein (UniProt.org). R1515C has been identified in sequencing studies (PMID: 24916674), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R1515H missense unknown SMARCA4 R1515H lies within the Bromo domain of the Smarca4 protein (UniProt.org). R1515H has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R370C missense unknown SMARCA4 R370C does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R370C has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
R381Q missense unknown SMARCA4 R381Q does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R381Q has been identified in sequencing studies (PMID: 22810696, PMID: 29107334), but has not been biochemically characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R397Q missense unknown SMARCA4 R397Q does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R397Q has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
R451H missense unknown SMARCA4 R451H does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R451H has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R521P missense unknown SMARCA4 R521P lies within the HSA domain of the Smarca4 protein (UniProt.org). R521P has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2021).
R521W missense unknown SMARCA4 R521W lies within the HSA domain of the Smarca4 protein (UniProt.org). R521W has been identified in sequencing studies (PMID: 22510280), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R539H missense unknown SMARCA4 R539H lies within the RNA-binding region of the Smarca4 protein that is sufficient for binding to lncRNA Evf2 (UniProt.org). R539H has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R874C missense unknown SMARCA4 R874C lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). R874C has been identified in sequencing studies (PMID: 22842228, PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R885C missense unknown SMARCA4 R885C lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). R885C has been identified in sequencing studies (PMID: 28776573, PMID: 24755471, PMID: 29349598), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R885H missense unknown SMARCA4 R885H lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). R885H results in increased PRC1 occupancy at CpG-rich gene promoters (PMID: 27941795), but has not been fully biochemically characterized and therefore, its effect on Smarca4 protein function is unknown.
R885L missense unknown SMARCA4 R885L lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). R885L has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R966W missense unknown SMARCA4 R966W does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R966W has been identified in sequencing studies (PMID: 27149842, PMID: 23525077, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Smarca4 protein is unknown (PubMed, Jul 2021).
R967H missense unknown SMARCA4 R967H does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R967H has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R973L missense loss of function SMARCA4 R973L does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R973L results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling activity in an in vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and partial inability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586).
R973Q missense unknown SMARCA4 R973Q does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R973Q has been identified in sequencing studies (PMID: 23143595, PMID: 26437030), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R973W missense unknown SMARCA4 R973W does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R973W has been identified in sequencing studies (PMID: 24755471, PMID: 24816253, PMID: 26437030), but has not been biochemically characterized and therefore, its effect on Smarca4 protein is unknown (PubMed, Jul 2021).
R978* nonsense loss of function - predicted SMARCA4 R978* results in a premature truncation of the Smarca4 protein at amino acid 978 of 1647 (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), R978* is predicted to lead to a loss of Smarca4 protein function.
R978L missense unknown SMARCA4 R978L does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R978L has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R978Q missense unknown SMARCA4 R978Q does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R978Q has been identified in sequencing studies (PMID: 22877736, PMID: 26238782), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
R979Q missense loss of function SMARCA4 R979Q does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R979Q results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling in an vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, and impaired ability to rescue cell growth of SMARCA2-deficient cells in culture (PMID: 33144586)
S1079L missense unknown SMARCA4 S1079L does not lie within any known functional domains of the Smarca4 protein (UniProt.org). S1079L has been identified in sequencing studies (PMID: 28801450, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
S1167L missense unknown SMARCA4 S1167L lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). S1167L has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
S1176N missense unknown SMARCA4 S1176N lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). S1176N has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
S1176R missense unknown SMARCA4 S1176R lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). S1176R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
S1371Y missense unknown SMARCA4 S1371Y lies within a region of the Smarca4 protein that is sufficient for interacting with DLX1 (UniProt.org). S1371Y has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
S23F missense unknown SMARCA4 S23F lies within the region of the Smarca4 protein necessary for interaction with SS18L1/CREST (UniProt.org). S23F has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
S391Pfs*20 frameshift loss of function - predicted SMARCA4 S391Pfs*20 indicates a shift in the reading frame starting at amino acid 391 and terminating 20 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S391Pfs*20 is predicted to lead to a loss of Smarca4 protein function.
S442Rfs*59 frameshift loss of function - predicted SMARCA4 S442Rfs*59 indicates a shift in the reading frame starting at amino acid 442 and terminating 59 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S442Rfs*59 is predicted to lead to a loss of Smarca4 protein function.
S767F missense unknown SMARCA4 S767F lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). S767F has been identified in sequencing studies (PMID: 27425854, PMID: 26744134, PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
S78Yfs*3 frameshift loss of function - predicted SMARCA4 S78Yfs*3 indicates a shift in the reading frame starting at amino acid 78 and terminating 3 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S78Yfs*3 is predicted to lead to a loss of Smarca4 protein function.
S85L missense unknown SMARCA4 S85L lies within the region of the Smarca4 protein necessary for interaction with SS18L1/CREST (UniProt.org). S85L has been identified in sequencing studies (PMID: 26812616, PMID: 27050151), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
T786I missense unknown SMARCA4 T786I lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). T786I results in decreased FRAP recovery time in culture (PMID: 29323272), but has not been fully biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
T786N missense unknown SMARCA4 T786N lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). T786N results in decreased FRAP recovery time in culture (PMID: 29323272), but has not been fully biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
T814K missense unknown SMARCA4 T814K lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). T814K has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
T910M missense loss of function SMARCA4 T910M lies within the ATP binding pocket of the Smarca4 protein (PMID: 23698369). T910M results in cell growth similar to wild-type Smarca4 in culture, but leads to decreased nucleosomal remodeling in an vitro assay, reduced chromatin accessibility, decreased ability to activate target genes, impaired ability to rescue cell growth of SMARCA2-deficient cells (PMID: 33144586) and decreased ATPase activity in culture (PMID: 23698369).
T910Rfs*40 frameshift loss of function - predicted SMARCA4 T910Rfs*40 indicates a shift in the reading frame starting at amino acid 910 and terminating 40 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), T910Rfs*40 is predicted to lead to a loss of Smarca4 protein function.
T912Nfs*38 frameshift loss of function - predicted SMARCA4 T912Nfs*38 indicates a shift in the reading frame starting at amino acid 912 and terminating 38 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), T912Nfs*38 is predicted to lead to a loss of Smarca4 protein function.
V1171Afs*4 frameshift loss of function - predicted SMARCA4 V1171Afs*4 indicates a shift in the reading frame starting at amino acid 1171 and terminating 4 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), V1171Afs*4 is predicted to lead to a loss of Smarca4 protein function.
V204fs frameshift loss of function - predicted SMARCA4 V204fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 204 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), V204fs is predicted to lead to a loss of Smarca4 protein function.
V343Cfs*68 frameshift loss of function - predicted SMARCA4 V343Cfs*68 indicates a shift in the reading frame starting at amino acid 343 and terminating 68 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), V343Cfs*68 is predicted to lead to a loss of Smarca4 protein function.
V684Wfs*90 frameshift loss of function - predicted SMARCA4 V684Wfs*90 indicates a shift in the reading frame starting at amino acid 684 and terminating 90 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), V684Wfs*90 is predicted to lead to a loss of Smarca4 protein function.
V742A missense unknown SMARCA4 V742A does not lie within any known functional domains of the Smarca4 protein (UniProt.org). V742A has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
W1178Gfs*38 frameshift loss of function - predicted SMARCA4 W1178Gfs*38 indicates a shift in the reading frame starting at amino acid 1178 and terminating 38 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), W1178Gfs*38 is predicted to lead to a loss of Smarca4 protein function.
W642C missense unknown SMARCA4 W642C lies within the RNA-binding region of the Smarca4 protein that is sufficient for binding to lncRNA Evf2 (UniProt.org). W642C has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2021).
W764fs frameshift loss of function - predicted SMARCA4 W764fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 764 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), W764fs is predicted to lead to a loss of Smarca4 protein function.
W764R missense loss of function SMARCA4 W764R lies adjacent to the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). W764R confers a loss of function to the Smarca4 protein as demonstrated by reduced Smarca4-driven reporter activity and increased colony formation (PMID: 22407764).
W922* nonsense loss of function - predicted SMARCA4 W922* results in a premature truncation of the Smarca4 protein at amino acid 922 of 1647 (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), W922* is predicted to lead to a loss of Smarca4 protein function.
Y1050fs frameshift loss of function - predicted SMARCA4 Y1050fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 1050 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), Y1050fs is predicted to lead to a loss of Smarca4 protein function.
Y731Vfs*10 frameshift loss of function - predicted SMARCA4 Y731Vfs*10 indicates a shift in the reading frame starting at amino acid 731 and terminating 10 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Y731Vfs*10 is predicted to lead to a loss of Smarca4 protein function.
Y860H missense unknown SMARCA4 Y860H lies within the ATP-binding helicase domain of the Smarca4 protein (UniProt.org). Y860H results in increased FRAP recovery (PMID: 29323272) and increased PRC1 occupancy at CpG-rich promoters (PMID: 27941795), but has not been fully biochemically characterized and therefore, its effect on Smarca4 protein function is unknown.