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Gene | TP53 |
Variant | G199* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 G199* results in a premature truncation of the Tp53 protein at amino acid 199 of 393 (UniProt.org). G199* results in loss of Tp53 protein expression, and results in increased proliferation, migration, and invasion in cultured cells (PMID: 33987408), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 G199* TP53 mutant TP53 inact mut TP53 G199* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674936C>A |
cDNA | c.595G>T |
Protein | p.G199* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407262.1 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674936C>A | c.595G>T | p.G199* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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