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Gene | TP53 |
Variant | K164* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 K164* results in a premature truncation of the Tp53 protein at amino acid 164 of 393 (UniProt.org). K164* has not been biochemically characterized however, due to the effects of truncation mutations downstream of K164 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 K164* TP53 mutant TP53 inact mut TP53 K164* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675122T>A |
cDNA | c.490A>T |
Protein | p.K164* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.3 | chr17:g.7675122T>A | c.490A>T | p.K164* | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675122T>A | c.490A>T | p.K164* | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675122T>A | c.490A>T | p.K164* | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675122T>A | c.490A>T | p.K164* | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675122T>A | c.490A>T | p.K164* | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675122T>A | c.490A>T | p.K164* | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675122T>A | c.490A>T | p.K164* | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675122T>A | c.490A>T | p.K164* | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675122T>A | c.490A>T | p.K164* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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