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Gene | TP53 |
Variant | P223L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 P223L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). The functional effect of P223L is conflicting, as it results in DNA-binding, cellular senescence, expression of Tp53 targets, and acetylation of Tp53 similar to wild-type Tp53 in culture in one study (PMID: 27911860), however, in another study, demonstrates decreased Tp53 transactivation and reduced expression of the Tp53 target p21 in culture (PMID: 16741917), and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 P223L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674863G>A |
cDNA | c.668C>T |
Protein | p.P223L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674863G>A | c.668C>T | p.P223L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 P223L | unknown | |
TP53 P223L TP53 V274F |