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Gene | TP53 |
Variant | K120A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 K120A lies within the DNA binding region of the Tp53 protein (UniProt.org). K120A results in impaired oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 18524770), and results in decreased DNA binding and transactivation of Tp53 targets when expressed at physiological levels in culture (PMID: 16687402). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon4 TP53 K120A TP53 mutant TP53 inact mut TP53 K120A |
Transcript | NM_000546.6 |
gDNA | chr17:g.7676010_7676011delAAinsGC |
cDNA | c.358_359delAAinsGC |
Protein | p.K120A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112 | chr17:g.7676010_7676011delTTinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7676010_7676011delTTinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7676010_7676011delTTinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7676010_7676011delTTinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7676010_7676011delAAinsGC | c.358_359delAAinsGC | p.K120A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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