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Gene TP53
Variant L194F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 L194F lies within the DNA binding domain of the Tp53 protein (UniProt.org). L194F confers a loss of function to the Tp53 protein, as demonstrated by decreased Tp53 transactivation activity and decreased binding to Bcl2 in cell culture (PMID: 16443602).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon6 TP53 L194F

TP53 mutant TP53 inact mut TP53 L194F

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Transcript NM_000546.6
gDNA chr17:g.7674951G>A
cDNA c.580C>T
Protein p.L194F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674951G>A c.580C>T p.L194F RefSeq GRCh38/hg38
NM_000546 chr17:g.7674951G>A c.580C>T p.L194F 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 L194F breast cancer sensitive Ganetespib Preclinical - Cell culture Actionable In a preclinical study, Ganetespib inhibited growth of human breast cancer cells harboring TP53 L194F in culture (PMID: 26009011). 26009011
TP53 L194F breast cancer sensitive Tanespimycin Preclinical - Cell line xenograft Actionable In a preclinical study, Tanespimycin (17-AAG) inhibited tumor growth in human breast cancer cell line xenograft models harboring TP53 L194F (PMID: 26009011). 26009011
TP53 L194F breast cancer sensitive Vorinostat Preclinical - Cell line xenograft Actionable In a preclinical study, Zolinza (vorinostat) inhibited tumor growth in human breast cancer cell line xenograft models harboring TP53 L194F (PMID: 26009011). 26009011
TP53 L194F breast cancer sensitive Tanespimycin + Vorinostat Preclinical - Cell line xenograft Actionable In a preclinical study, Tanespimycin (17-AAG) and Zolinza (vorinostat) were synergistic towards tumor growth inhibition in human breast cancer cell line xenograft models harboring TP53 L194F (PMID: 26009011). 26009011