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Gene Variant Detail

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Gene TP53
Variant E224K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 E224K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E224K demonstrates defects in Tp53 transactivation activity in a yeast assay (PMID: 11429705), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon6 TP53 E224K

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Transcript NM_000546.6
gDNA chr17:g.7674861C>T
cDNA c.670G>A
Protein p.E224K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407268.1 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_000546 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674861C>T c.670G>A p.E224K RefSeq GRCh38/hg38

Filtering

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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