Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TP53 |
Variant | R273L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R273L is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R273L results in decreased Tp53 transactivation and decreased transcriptional repression of Tp53 targets in cell culture (PMID: 10787423, PMID: 8336941). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R273X TP53 R273L TP53 mutant TP53 inact mut TP53 R273L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673802C>A |
cDNA | c.818G>T |
Protein | p.R273L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.3 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 R273L | loss of function | p53 Activator p53 Gene Therapy |