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Gene TP53
Variant S240I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 S240I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). The functional effect of S240I is conflicting, as it has been reported to reduce Tp53 transactivation activity, but retains growth suppression ability in cell culture (PMID: 10901165), and therefore, its effect on Tp53 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 S240I

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Transcript NM_000546.6
gDNA chr17:g.7674244C>A
cDNA c.719G>T
Protein p.S240I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674244C>A c.719G>T p.S240I RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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