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Gene | TP53 |
Variant | A347P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 A347P lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). A347P results in a monomer Tp53 protein in yeast (PMID: 16007150) and enrichment over wild-type Tp53 after stimulation in a competitive cell culture assay (PMID: 38472508), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 A347P |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670670C>G |
cDNA | c.1039G>C |
Protein | p.A347P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |