Gene Variant Detail

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Gene TP53
Variant C275S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 C275S lies within the DNA interaction region of the Tp53 protein (UniProt.org). C275S confers a loss of function on the Tp53 protein, as demonstrated by decreased DNA-binding in cell culture (PMID: 12034820), attenuated oxidative dissociation, decreased affinity for the Gadd45 promoter in an in vitro assay (PMID: 25584637), and decreased induction of p21 in culture (PMID: 34679713).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 C275S

TP53 mutant TP53 inact mut TP53 C275S

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Transcript NM_000546.6
gDNA chr17:g.7673797A>T
cDNA c.823T>A
Protein p.C275S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126114.2 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_000546 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673797A>T c.823T>A p.C275S RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673797A>T c.823T>A p.C275S 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