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Gene | TP53 |
Variant | D259Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 D259Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D259Y has been identified in the scientific literature (PMID: 30139768, PMID: 35724546, PMID: 38219954), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 D259Y |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674188C>A |
cDNA | c.775G>T |
Protein | p.D259Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.3 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126115.1 | chr17:g.7669620C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126115 | chr17:g.7669620C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126115.2 | chr17:g.7669620C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674188C>A | c.775G>T | p.D259Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 D259Y | melanoma | sensitive | LY3009120 | Preclinical | Actionable | In a preclinical study, LY3009120 modestly inhibited soft agar growth of human melanoma cancer cells harboring TP53 D259Y in culture (PMID: 26343583). | 26343583 |
TP53 D259Y | melanoma | sensitive | Selumetinib | Preclinical | Actionable | In a preclinical study, Selumetinib (AZD6244) inhibited proliferation of human melanoma cells harboring TP53 D259Y in culture (PMID: 26343583). | 26343583 |
TP53 D259Y | melanoma | sensitive | Vemurafenib | Preclinical | Actionable | In a preclinical study, Zelboraf (vemurafenib) inhibited proliferation of human melanoma cells TP53 D259Y in culture (PMID: 26343583). | 26343583 |