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Gene | TP53 |
Variant | E336* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 E336* results in a premature truncation of the Tp53 protein at amino acid 336 of 393 (UniProt.org). E336* results in decreased Tp53 transactivation activity and reduced nuclear localization in cell culture (PMID: 9331090, PMID: 16969106). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 E336* TP53 mutant TP53 inact mut TP53 E336* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670703C>A |
cDNA | c.1006G>T |
Protein | p.E336* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407264.1 | chr17:g.7670703C>A | c.1006G>T | p.E336* | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670703C>A | c.1006G>T | p.E336* | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670703C>A | c.1006G>T | p.E336* | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7670703C>A | c.1006G>T | p.E336* | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7670703C>A | c.1006G>T | p.E336* | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670703C>A | c.1006G>T | p.E336* | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670703C>A | c.1006G>T | p.E336* | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7670703C>A | c.1006G>T | p.E336* | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670703C>A | c.1006G>T | p.E336* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 E336* | loss of function | p53 Gene Therapy |