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Gene | TP53 |
Variant | C238Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 C238Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238Y demonstrates binding to MDM2 and phosphorylation at Serine 15, results in transactivation the Tp53 target gene p21 similar to wild-type Tp53 in cell culture, and does not significantly alter Tp53 structure in molecular models (PMID: 16818505), however, results in aberrant transactivation of Ctnnb1 in culture (PMID: 37537199), and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 C238Y |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674250C>T |
cDNA | c.713G>A |
Protein | p.C238Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407268.1 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126118.2 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276761 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276696.3 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276695.1 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126118.1 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276695.3 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276761.3 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276695 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276760.3 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001407263.1 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126118 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001407269.1 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001407271.1 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276696 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276761.1 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276760 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001407267.1 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001407265.1 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674250C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276760.1 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
NM_001276696.1 | chr17:g.7673790C>T | c.713G>A | p.C238Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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