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Gene | TP53 |
Variant | L344P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 L344P lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L344P results in decreased Tp53 tetramerization and transcriptional activity, reduced expression of Tp53 target genes, and demonstrates partial colony suppression ability in cell culture (PMID: 19454241, PMID: 9125151, PMID: 20080630). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 L344P TP53 mutant TP53 inact mut TP53 L344P |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670678A>G |
cDNA | c.1031T>C |
Protein | p.L344P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126118 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001276761 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670678A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001126118.2 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7670678A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001276761.3 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001276760.3 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7670678A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670678A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670678A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001276760 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001407267.1 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001126118.1 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001407265.1 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670678A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001276760.1 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001407263.1 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001276761.1 | chr17:g.7669643A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670678A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7670678A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670678A>G | c.1031T>C | p.L344P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 L344P | loss of function |