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Gene | SMARCA4 |
Variant | F1539L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | 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 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCA4 mutant SMARCA4 F1539L |
Transcript | NM_003072.5 |
gDNA | chr19:g.11058869T>C |
cDNA | c.4615T>C |
Protein | p.F1539L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011528198 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_024451658.1 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
NM_003072.5 | chr19:g.11058869T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_047439243.1 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_024451658.2 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
NM_003072.3 | chr19:g.11058869T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
NM_003072 | chr19:g.11058869T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_011528198.1 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
NM_001387283.1 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_006722845 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_006722846.2 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_011528198.2 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
NM_001128849.3 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_047439244.1 | chr19:g.11058869T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
NM_001128844.1 | chr19:g.11058869T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
NM_001128844 | chr19:g.11058869T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
NM_001128849 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_006722845.2 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_006722846 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
NM_001128844.3 | chr19:g.11058869T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
XM_006722846.3 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
NM_001128849.1 | chr19:g.11058349T>C | c.4615T>C | p.F1539L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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