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Gene | TP53 |
Variant | L194R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 L194R lies within the DNA binding domain of the Tp53 protein (UniProt.org). L194R results in decreased wild-type Tp53 transactivation activity and loss of growth suppression activity, and also confers a gain of function to Tp53 resulting in aberrant activation of ASNS and hTERT in culture (PMID: 12509279, PMID: 15077194). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 L194R TP53 mutant TP53 inact mut TP53 L194R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674950A>C |
cDNA | c.581T>G |
Protein | p.L194R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674950A>C | c.581T>G | p.L194R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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