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Gene | TP53 |
Variant | K351Q |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 K351Q lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). K351Q results in decreased Tp53-mediated transcription of p21 in cell culture (PMID: 27210019), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 K351Q TP53 mutant TP53 inact mut TP53 K351Q |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670658T>G |
cDNA | c.1051A>C |
Protein | p.K351Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.2 | chr17:g.7670658T>G | c.1051A>C | p.K351Q | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670658T>G | c.1051A>C | p.K351Q | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670658T>G | c.1051A>C | p.K351Q | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670658T>G | c.1051A>C | p.K351Q | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670658T>G | c.1051A>C | p.K351Q | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670658T>G | c.1051A>C | p.K351Q | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670658T>G | c.1051A>C | p.K351Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 K351Q | loss of function - predicted | p53 Activator p53 Gene Therapy |