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Gene TP53
Variant E224fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 E224fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 224 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). E224fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of E224 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon6 TP53 E224fs

TP53 mutant TP53 inact mut TP53 E224fs

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Transcript NM_000546.6
gDNA chr17:g.(7674861_7674862)
cDNA c.(670_669)
Protein p.E224fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407262.1 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001126113 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7674861_7674862) c.(670_669) p.E224fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7674861_7674862) c.(670_669) p.E224fs 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