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TP53 G245D - Gene Variant Detail

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Gene TP53
Variant G245D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 G245D is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). G245D results in decreased activation of Tp53 target genes (PMID: 22214764, PMID: 25634208, PMID: 27533082), and also confers a gain of function to Tp53 as demonstrated by aberrant interaction with ZBP-89, as well as induction of FOXM1 expression, and leads to decreased apoptosis in culture and increased tumor growth and metastasis in mouse models (PMID: 22214764, PMID: 29269868).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 G245D

TP53 mutant TP53 inact mut TP53 G245D

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Transcript NM_000546.6
gDNA chr17:g.7674229C>T
cDNA c.734G>A
Protein p.G245D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113.2 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_000546 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674229C>T c.734G>A p.G245D RefSeq GRCh38/hg38

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Sorting

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