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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_001126112.2 | 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 |
NM_001126113.2 | chr17:g.7673250C>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_001407266.1 | chr17:g.7670699C>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_001407264.1 | 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_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 | chr17:g.7673250C>A | c.1010G>T | p.R337L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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