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Gene | TP53 |
Variant | P278S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 P278S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P278S results in the loss of Tp53 transactivation of p21, while retaining activation of Axl in cell culture, and promotes tumor growth in xenograft models (PMID: 22989750), and in mouse cells harboring the equivalent mouse variant (P275S), results in decreased activation of Tp53 target genes and reduced apoptotic response following DNA damage (PMID: 11867759). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 P278S TP53 mutant TP53 inact mut TP53 P278S |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673788G>A |
cDNA | c.832C>T |
Protein | p.P278S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407268.1 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673788G>A | c.832C>T | p.P278S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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