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Gene TP53
Variant C135Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 C135Y lies within the DNA-binding domain of the Tp53 protein (UniProt.org). C135Y confers a loss of function to the Tp53 protein as demonstrated by loss of binding to the Drosha complex, inability to induce downstream miRs, loss of transactivation activity in cell culture (PMID: 19626115, PMID: 8336941), 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 exon5 TP53 C135Y

TP53 mutant TP53 inact mut TP53 C135Y

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Transcript NM_000546.6
gDNA chr17:g.7675208C>T
cDNA c.404G>A
Protein p.C135Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.5 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001126114 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001126113 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_000546 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675208C>T c.404G>A p.C135Y RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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
TP53 C135Y peritoneum cancer sensitive APR-246 + Cisplatin Preclinical - Patient cell culture Actionable In a preclinical study, the combination of APR-246 and Platinol (cisplatin) resulted in strong synergism, thereby reducing cell viability in patient derived peritoneum cancer cells harboring TP53 C135Y in culture (PMID: 27179933). 27179933