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Gene | TP53 |
Variant | K305N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 K305N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K305N results in a loss of nuclear localization of Tp53, but retains the ability to interact with wild-type Tp53 and Mdm2 (PMID: 11127820), demonstrates variable cellular localization under stress conditions in culture (PMID: 16115632), and cellular invasion and radiation-induced cell death similar to wild-type in culture (PMID: 28377455), and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 K305N |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673705C>G |
cDNA | c.915G>C |
Protein | p.K305N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.5 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673705C>G | c.915G>C | p.K305N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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