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 | R158L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R158L lies within the DNA-binding domain of the Tp53 protein (UniProt.org). R158L results in decreased Tp53 transactivation activity, as demonstrated by loss of p21 expression and decreased activation of Tp53 target genes, but does not interfere with wild-type Tp53 activity in cell culture (PMID: 16861262, PMID: 25584008, PMID: 31067569), and also results in aberrant gene regulation in cultured cells (PMID: 31067569). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R158L TP53 mutant TP53 inact mut TP53 R158L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675139C>A |
cDNA | c.473G>T |
Protein | p.R158L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.2 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126115 | chr17:g.7673751C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126115.2 | chr17:g.7673751C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126117.1 | chr17:g.7673751C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126116.1 | chr17:g.7673751C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126117 | chr17:g.7673751C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126116.2 | chr17:g.7673751C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126116 | chr17:g.7673751C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126117.2 | chr17:g.7673751C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126115.1 | chr17:g.7673751C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675139C>A | c.473G>T | p.R158L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 R158L | loss of function | p53 Activator p53 Gene Therapy |