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Gene | TP53 |
Variant | R181C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R181C lies within the DNA-binding domain and HIPK1, ZNF385A, FBXO42 and AXIN1-interacting region of the Tp53 protein (UniProt.org). R181C is able to transactivate the Tp53 targets p21 and PIG3, but does not transactivate other Tp53 targets including the apoptotic genes BAX and P53AIP1, and leads to decreased induction of apoptosis and enhances transformation in culture (PMID: 10229196, PMID: 20471942). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R181C TP53 mutant TP53 inact mut TP53 R181C |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675071G>A |
cDNA | c.541C>T |
Protein | p.R181C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.6 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675071G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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