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Gene TP53
Variant G245A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 G245A is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). G245A results in decreased DNA binding and reduced transactivation of p21 by Tp53, and also confers a gain of function to the Tp53 protein as demonstrated by transcriptional activation of SLC25A and increased tumorigenesis in mouse models (PMID: 24681808, PMID: 20589832).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 G245A

TP53 mutant TP53 inact mut TP53 G245A

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Transcript NM_000546.6
gDNA chr17:g.7674229C>G
cDNA c.734G>C
Protein p.G245A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.2 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674229C>G c.734G>C p.G245A RefSeq GRCh38/hg38
NM_000546 chr17:g.7674229C>G c.734G>C p.G245A 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 )
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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 Protein Effect Treatment Approaches
TP53 G245A loss of function p53 Activator p53 Gene Therapy