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TP53 C242S - Gene Variant Detail

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Gene TP53
Variant C242S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 C242S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C242S results in decreased Tp53 binding to DNA in cell culture (PMID: 17170001), decreased interaction with MIF (PMID: 18502749), decreased nuclear translocation of YB1 (PMID: 12743601), decreased Tp53 protein stability (PMID: 10713666), and leads to a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 C242S

TP53 mutant TP53 inact mut TP53 C242S

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Transcript NM_000546.6
gDNA chr17:g.7674239A>T
cDNA c.724T>A
Protein p.C242S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.5 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_000546 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674239A>T c.724T>A p.C242S RefSeq GRCh38/hg38

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