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Gene | TP53 |
Variant | V272L |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 V272L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V272L results in increased proliferation, migration, invasion, and protein stability in culture (PMID: 37030635) and demonstrates transcription activity similar to wild-type Tp53 in yeast (PMID: 20407015), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 V272L TP53 mutant TP53 inact mut TP53 V272L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673806C>G |
cDNA | c.814G>C |
Protein | p.V272L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.5 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673806C>G | c.814G>C | p.V272L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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