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Gene | SMARCA4 |
Variant | T910M |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCA4 mutant SMARCA4 inact mut SMARCA4 T910M |
Transcript | NM_003072.5 |
gDNA | chr19:g.11021837C>T |
cDNA | c.2729C>T |
Protein | p.T910M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024451663.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_011528198.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128847.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_003072 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451664.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_017027160 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128844.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451659.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128849.3 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451663.2 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_006722846.2 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_017027168 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451666.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001387283.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128848.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451665.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451658.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451667.2 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128849 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451660.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128845 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128847 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_003072.3 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_047439249.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_017027167 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451662.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_017027163 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128849.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128846 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451658.2 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_006722846.3 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_017027161 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128845.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128844.3 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001411150.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_006722845.2 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451661.2 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128848 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_017027165 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_047439251.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_047439244.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001374457.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_017027164 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_047439248.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128845.2 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128846.2 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_017027166 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_047439247.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_003072.5 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128848.2 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451661.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_011528198.2 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128846.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_006722845 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_011528198 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_024451667.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128844 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_006722846 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_047439243.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_047439250.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_017027162 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
XM_047439246.1 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
NM_001128847.4 | chr19:g.11021837C>T | c.2729C>T | p.T910M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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