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Gene | TP53 |
Variant | R110L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R110L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R110L results in a loss of Tp53 transcription activity in a reporter assay, loss of DNA binding, and failure to induce apoptosis in cell culture (PMID: 24076587). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon4 TP53 R110L TP53 mutant TP53 inact mut TP53 R110L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7676040C>A |
cDNA | c.329G>T |
Protein | p.R110L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7676040C>A | c.329G>T | p.R110L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 R110L | loss of function | p53 Activator p53 Gene Therapy |