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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 |