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Gene | SMARCA4 |
Variant | P109L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCA4 P109L lies within the SS18L1/CREST-interacting region of the Smarca4 protein (UniProt.org). P109L has not been characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCA4 mutant SMARCA4 P109L |
Transcript | NM_003072.5 |
gDNA | chr19:g.10985376C>T |
cDNA | c.326C>T |
Protein | p.P109L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003072.5 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
NM_001374457.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_047439251.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_047439249.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_047439244.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
NM_001387283.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
NM_001128846.2 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_047439248.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
NM_001128848.2 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_024451667.2 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_024451661.2 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_047439247.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
NM_001128844.3 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_047439250.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
NM_001411150.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
NM_001128849.3 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_047439246.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_006722846.3 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_011528198.2 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_047439243.1 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_024451658.2 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
XM_024451663.2 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
NM_001128847.4 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
NM_001128845.2 | chr19:g.10985376C>T | c.326C>T | p.P109L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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