TP53 L194R
Gene Variant Detail

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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

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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_001126114.2 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_000546.5 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_001407268.1 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
NM_001407264.1 chr17:g.7674950A>C c.581T>G p.L194R RefSeq GRCh38/hg38
NM_001126113 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_001126112.3 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_001126114 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_001407266.1 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_001126112 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

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References