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Gene | TP53 |
Variant | R337C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R337C lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). R337C results decreased tetramerization, loss of Tp53 transcriptional activity, decreased apoptotic response to irradiation in cell culture (PMID: 19454241, PMID: 9150393), increased colony formation compared to wild-type in the presence of an MDM2 antagonist in cell culture, and tumor growth in mouse models (PMID: 35165384). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 R337C TP53 mutant TP53 inact mut TP53 R337C |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670700G>A |
cDNA | c.1009C>T |
Protein | p.R337C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.2 | chr17:g.7670700G>A | c.1009C>T | p.R337C | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7670700G>A | c.1009C>T | p.R337C | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673249_7673251delCGAinsTGT | c.1009_1011delCGAinsTGT | p.R337C | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673249_7673251delCGAinsTGT | c.1009_1011delCGAinsTGT | p.R337C | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670700G>A | c.1009C>T | p.R337C | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670700G>A | c.1009C>T | p.R337C | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7670700G>A | c.1009C>T | p.R337C | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673249_7673251delTCGinsACA | c.1009_1011delCGAinsTGT | p.R337C | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670700G>A | c.1009C>T | p.R337C | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670700G>A | c.1009C>T | p.R337C | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670700G>A | c.1009C>T | p.R337C | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670700G>A | c.1009C>T | p.R337C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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