Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TP53 |
Variant | L350P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 L350P lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L350P results in decreased binding to Tfap2a, decreased Tp53 transactivation activity in a reporter assay, and decreased induction of p21 gene expression in cell culture (PMID: 16288208). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 L350P TP53 mutant TP53 inact mut TP53 L350P |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670660A>G |
cDNA | c.1049T>C |
Protein | p.L350P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407262.1 | chr17:g.7670660A>G | c.1049T>C | p.L350P | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7670660A>G | c.1049T>C | p.L350P | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670660A>G | c.1049T>C | p.L350P | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670660A>G | c.1049T>C | p.L350P | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670660A>G | c.1049T>C | p.L350P | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670660A>G | c.1049T>C | p.L350P | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670660A>G | c.1049T>C | p.L350P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|