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Gene | TP53 |
Variant | R290H |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | TP53 R290H lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R290H demonstrates DNA-binding activity, induction of apoptosis, and activation of STAT4 mRNA expression to similar levels of wild-type Tp53 in culture (PMID: 24076587). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R290H |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673751C>T |
cDNA | c.869G>A |
Protein | p.R290H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.3 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673751C>T | c.869G>A | p.R290H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 R290H | no effect |