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Gene | TP53 |
Variant | L344R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 L344R lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L344R results in a decreased Tp53 tetramerization and transcriptional activity in cell culture (PMID: 19454241, PMID: 20505364). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 L344R TP53 mutant TP53 inact mut TP53 L344R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670678A>C |
cDNA | c.1031T>G |
Protein | p.L344R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |