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Gene | SMARCA4 |
Variant | S1371Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | 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, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCA4 mutant SMARCA4 S1371Y |
Transcript | NM_003072.5 |
gDNA | chr19:g.11035074C>A |
cDNA | c.4112C>A |
Protein | p.S1371Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024451658.1 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
NM_001128849.1 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_006722846.3 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_011528198 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_011528198.2 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
NM_003072.5 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
NM_001128844 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_006722845 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
NM_001128849 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_006722845.2 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
NM_003072 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_024451659.1 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_047439244.1 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_006722846 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_024451662.1 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
NM_001128844.3 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_047439243.1 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
NM_003072.3 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_017027160 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_017027163 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
NM_001128849.3 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_017027161 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_011528198.1 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
NM_001128844.1 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_006722846.2 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
NM_001387283.1 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_024451660.1 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
XM_024451658.2 | chr19:g.11035074C>A | c.4112C>A | p.S1371Y | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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