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Gene | TP53 |
Variant | K320Q |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 K320Q lies within the bipartite nuclear localization signal of the Tp53 protein (UniProt.org). K320Q is able to activate p21, but results in alterations in other Tp53 transcriptional and repressive activities, and leads to resistance to apoptosis in cell culture (PMID: 15831478, PMID: 16717128). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon9 TP53 K320Q TP53 mutant TP53 inact mut TP53 K320Q |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673570T>G |
cDNA | c.958A>C |
Protein | p.K320Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673570T>G | c.958A>C | p.K320Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 K320Q | loss of function |