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Gene | TP53 |
Variant | R335H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 R335H lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). R335H results in increased monomer formation compared to wild-type Tp53 in cell culture (PMID: 19454241), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 R335H |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670705C>T |
cDNA | c.1004G>A |
Protein | p.R335H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112 | chr17:g.7670705C>T | c.1004G>A | p.R335H | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7670705C>T | c.1004G>A | p.R335H | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7670705C>T | c.1004G>A | p.R335H | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670705C>T | c.1004G>A | p.R335H | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670705C>T | c.1004G>A | p.R335H | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670705C>T | c.1004G>A | p.R335H | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670705C>T | c.1004G>A | p.R335H | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670705C>T | c.1004G>A | p.R335H | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670705C>T | c.1004G>A | p.R335H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 R335H | unknown | p53 Activator p53 Gene Therapy |