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 | R337L |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 R337L lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). R337L results in reduced Tp53 tetramerization and decreased DNA binding and transactivation activity in cell culture (PMID: 19454241, PMID: 9766574). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon10 TP53 R337L TP53 mutant TP53 inact mut TP53 R337L |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7670699C>A |
| cDNA | c.1010G>T |
| Protein | p.R337L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001126112 | chr17:g.7670699C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_001126113 | chr17:g.7673250C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7670699C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7673250C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7670699C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7670699C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7670699C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7673250C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7670699C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7670699C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7670699C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7670699C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|