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Gene | SMARCA4 |
Variant | E1364K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | 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, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCA4 mutant SMARCA4 E1364K |
Transcript | NM_003072.5 |
gDNA | chr19:g.11035052G>A |
cDNA | c.4090G>A |
Protein | p.E1364K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017027160 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128844.1 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_011528198.1 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_006722846.2 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_024451658.2 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128845 | chr19:g.11041316G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_024451662.1 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_047439243.1 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_024451658.1 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128846 | chr19:g.11041316G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_006722846.3 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128844 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_017027166 | chr19:g.11041316G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128849 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128845.1 | chr19:g.11041316G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_011528198 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_017027163 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_006722845 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_017027161 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128845.2 | chr19:g.11041316G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_024451664.1 | chr19:g.11041316G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128846.1 | chr19:g.11041316G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_011528198.2 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001387283.1 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_024451659.1 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128849.3 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128844.3 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_024451660.1 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_003072.3 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_024451665.1 | chr19:g.11041316G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_003072.5 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128846.2 | chr19:g.11041316G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_003072 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_047439244.1 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
NM_001128849.1 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_006722845.2 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_006722846 | chr19:g.11035052G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
XM_017027165 | chr19:g.11041316G>A | c.4090G>A | p.E1364K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
SMARCA4 E1364K | unknown |