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Gene | TP53 |
Variant | M246K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 M246K lies within the DNA binding domain of the Tp53 protein (UniProt.org). M246K results in decreased activation of Tp53 target gene expression and increased tumor formation in zebrafish models (PMID: 15630097). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 M246K TP53 mutant TP53 inact mut TP53 M246K |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674226A>T |
cDNA | c.737T>A |
Protein | p.M246K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674226A>T | c.737T>A | p.M246K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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