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Gene TP53
Variant G245C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 G245C is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). G245C results in a loss of transactivation of several targets of wild-type Tp53 (PMID: 22170099, PMID: 30126368), and also confers a gain of function to Tp53, as demonstrated through inhibition of Ampk activation in cell culture, and leads to increased tumor formation in mouse models (PMID: 24857548), and increased migration and invasion in culture (PMID: 30126368).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 G245C

TP53 mutant TP53 inact mut TP53 G245C

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Transcript NM_000546.6
gDNA chr17:g.7674230C>A
cDNA c.733G>T
Protein p.G245C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674230C>A c.733G>T p.G245C RefSeq GRCh38/hg38

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  • 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